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 2 74756548 74756548 + 5'UTR SNP G G C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr2:74756548G>C BLCA 2 74753938 74753938 + 5'Flank SNP C C G TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr2:74753938C>G BLCA 2 74754085 74754085 + 5'Flank SNP T T C TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr2:74754085T>C BLCA 2 74754468 74754468 + 5'Flank SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr2:74754468C>G BLCA 2 74754679 74754679 + 5'Flank SNP C C T TCGA-PQ-A6FN-01A-11D-A31L-08 TCGA-PQ-A6FN-10A-01D-A31J-08 g.chr2:74754679C>T BLCA 2 74754952 74754952 + 5'Flank SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr2:74754952T>C BLCA 2 74755396 74755396 + 5'Flank SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr2:74755396G>C BLCA 2 74755967 74755967 + 5'Flank SNP G G A TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr2:74755967G>A BLCA 2 74755973 74755973 + 5'Flank SNP C C G TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr2:74755973C>G BLCA 2 74756363 74756363 + 5'Flank SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 g.chr2:74756363G>A BLCA 2 74756539 74756539 + 5'UTR SNP C C T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr2:74756539C>T BRCA 2 74754449 74754449 + 5'Flank SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 g.chr2:74754449C>G BRCA 2 74754622 74754622 + 5'Flank SNP A A G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 g.chr2:74754622A>G BRCA 2 74756062 74756062 + 5'Flank SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 g.chr2:74756062G>A CESC 2 74755126 74755126 + 5'Flank SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr2:74755126G>A CESC 2 74756717 74756717 + 5'UTR SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr2:74756717C>G COAD 2 74756624 74756624 + 5'UTR SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:74756624A>C COADREAD 2 74755126 74755126 + 5'Flank SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:74755126G>A COADREAD 2 74755993 74755993 + 5'Flank DEL C C - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:74755993delC COADREAD 2 74756624 74756624 + 5'UTR SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:74756624A>C DLBC 2 74756500 74756500 + 5'Flank SNP G G A TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr2:74756500G>A DLBC 2 74756626 74756626 + 5'UTR SNP C C T TCGA-FF-A7CQ-01A-11D-A382-10 TCGA-FF-A7CQ-10A-01D-A385-10 g.chr2:74756626C>T ESCA 2 74755953 74755953 + 5'Flank SNP C C G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr2:74755953C>G GBM 2 74756731 74756731 + 5'UTR SNP G G A TCGA-14-0817-01A-01W-0424-08 TCGA-14-0817-10A-01W-0424-08 g.chr2:74756731G>A GBMLGG 2 74756731 74756731 + 5'UTR SNP G G A TCGA-14-0817-01A-01W-0424-08 TCGA-14-0817-10A-01W-0424-08 g.chr2:74756731G>A HNSC 2 74754072 74754072 + 5'Flank SNP T T C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 g.chr2:74754072T>C HNSC 2 74754875 74754875 + 5'Flank SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr2:74754875G>A HNSC 2 74755571 74755571 + 5'Flank SNP C C A TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 g.chr2:74755571C>A HNSC 2 74756406 74756406 + 5'Flank SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr2:74756406G>A KIPAN 2 74754424 74754424 + 5'Flank SNP T T C TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr2:74754424T>C KIPAN 2 74755400 74755400 + 5'Flank SNP C C T TCGA-UZ-A9PR-01A-11D-A42J-10 TCGA-UZ-A9PR-10A-01D-A42M-10 g.chr2:74755400C>T KIPAN 2 74755401 74755401 + 5'Flank SNP G G T TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr2:74755401G>T KIPAN 2 74756587 74756587 + 5'UTR SNP G G C TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr2:74756587G>C KIRC 2 74754424 74754424 + 5'Flank SNP T T C TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr2:74754424T>C KIRP 2 74755400 74755400 + 5'Flank SNP C C T TCGA-UZ-A9PR-01A-11D-A42J-10 TCGA-UZ-A9PR-10A-01D-A42M-10 g.chr2:74755400C>T KIRP 2 74755401 74755401 + 5'Flank SNP G G T TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr2:74755401G>T KIRP 2 74756587 74756587 + 5'UTR SNP G G C TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr2:74756587G>C LIHC 2 74754135 74754135 + 5'Flank SNP T T C TCGA-DD-A4NI-01A-11D-A27I-10 TCGA-DD-A4NI-10A-01D-A27I-10 g.chr2:74754135T>C LIHC 2 74755115 74755115 + 5'Flank DEL A A - TCGA-DD-A1EL-01A-11D-A152-10 TCGA-DD-A1EL-10A-01D-A152-10 g.chr2:74755115delA LUAD 2 74754375 74754375 + 5'Flank SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr2:74754375C>A LUAD 2 74755112 74755112 + 5'Flank SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 g.chr2:74755112G>A LUAD 2 74755588 74755588 + 5'Flank SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 g.chr2:74755588C>T LUSC 2 74756577 74756577 + 5'UTR SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr2:74756577C>T OV 2 74754614 74754614 + 5'Flank SNP G G A TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 g.chr2:74754614G>A PAAD 2 74754875 74754875 + 5'Flank SNP G G A TCGA-2L-AAQE-01A-11D-A397-08 TCGA-2L-AAQE-11A-11D-A39A-08 g.chr2:74754875G>A PAAD 2 74754875 74754875 + 5'Flank SNP G G A TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr2:74754875G>A PCPG 2 74754875 74754875 + 5'Flank SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 g.chr2:74754875G>A READ 2 74755126 74755126 + 5'Flank SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:74755126G>A READ 2 74755993 74755993 + 5'Flank DEL C C - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:74755993delC SKCM 2 74754932 74754932 + 5'Flank SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr2:74754932G>A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 2 74760087 74760087 single base substitution A G upstream_gene_variant BLCA-CN 2 74754098 74754098 single base substitution C T 3_prime_UTR_variant BLCA-CN 2 74754098 74754098 single base substitution C T downstream_gene_variant BLCA-CN 2 74754098 74754098 single base substitution C T exon_variant BLCA-CN 2 74754098 74754098 single base substitution C T missense_variant R389H 1166G>A BLCA-CN 2 74757841 74757841 single base substitution G A upstream_gene_variant BLCA-US 2 74749805 74749805 single base substitution G C downstream_gene_variant BLCA-US 2 74752218 74752218 single base substitution C T downstream_gene_variant BLCA-US 2 74754468 74754468 single base substitution C G downstream_gene_variant BLCA-US 2 74754468 74754468 single base substitution C G exon_variant BLCA-US 2 74754468 74754468 single base substitution C G missense_variant L328F 984G>C BLCA-US 2 74754952 74754952 single base substitution T C downstream_gene_variant BLCA-US 2 74754952 74754952 single base substitution T C exon_variant BLCA-US 2 74754952 74754952 single base substitution T C missense_variant E251G 752A>G BLCA-US 2 74754952 74754952 single base substitution T C upstream_gene_variant BLCA-US 2 74756246 74756246 single base substitution C T exon_variant BLCA-US 2 74756246 74756246 single base substitution C T intron_variant BLCA-US 2 74756246 74756246 single base substitution C T upstream_gene_variant BLCA-US 2 74756363 74756363 single base substitution G A exon_variant BLCA-US 2 74756363 74756363 single base substitution G A stop_gained Q79* 235C>T BLCA-US 2 74756363 74756363 single base substitution G A upstream_gene_variant BLCA-US 2 74757145 74757145 single base substitution G A upstream_gene_variant BLCA-US 2 74757342 74757342 single base substitution C T upstream_gene_variant BLCA-US 2 74757805 74757805 single base substitution G A upstream_gene_variant BLCA-US 2 74757942 74757942 single base substitution G C upstream_gene_variant BLCA-US 2 74761668 74761668 single base substitution C G upstream_gene_variant BRCA-EU 2 74750560 74750560 single base substitution G C downstream_gene_variant BRCA-EU 2 74750967 74750967 single base substitution T G downstream_gene_variant BRCA-EU 2 74751677 74751677 single base substitution A T downstream_gene_variant BRCA-EU 2 74752460 74752460 single base substitution G A downstream_gene_variant BRCA-EU 2 74755017 74755017 single base substitution C G downstream_gene_variant BRCA-EU 2 74755017 74755017 single base substitution C G exon_variant BRCA-EU 2 74755017 74755017 single base substitution C G intron_variant BRCA-EU 2 74755017 74755017 single base substitution C G upstream_gene_variant BRCA-EU 2 74755854 74755854 single base substitution G A downstream_gene_variant BRCA-EU 2 74755854 74755854 single base substitution G A intron_variant BRCA-EU 2 74755854 74755854 single base substitution G A upstream_gene_variant BRCA-EU 2 74755999 74755999 single base substitution G A exon_variant BRCA-EU 2 74755999 74755999 single base substitution G A missense_variant R135W 403C>T BRCA-EU 2 74755999 74755999 single base substitution G A upstream_gene_variant BRCA-EU 2 74756497 74756497 single base substitution G T exon_variant BRCA-EU 2 74756497 74756497 single base substitution G T synonymous_variant V60V 180C>A BRCA-EU 2 74756497 74756497 single base substitution G T upstream_gene_variant BRCA-EU 2 74757137 74757137 single base substitution G C upstream_gene_variant BRCA-EU 2 74757255 74757255 single base substitution C T upstream_gene_variant BRCA-EU 2 74757409 74757409 single base substitution C T upstream_gene_variant BRCA-EU 2 74757473 74757473 deletion of <=200bp G - upstream_gene_variant BRCA-EU 2 74757942 74757942 single base substitution G T upstream_gene_variant BRCA-EU 2 74759883 74759883 single base substitution G A upstream_gene_variant BRCA-EU 2 74762005 74762008 deletion of <=200bp TTTG - upstream_gene_variant BRCA-FR 2 74755017 74755017 single base substitution C G downstream_gene_variant BRCA-FR 2 74755017 74755017 single base substitution C G exon_variant BRCA-FR 2 74755017 74755017 single base substitution C G intron_variant BRCA-FR 2 74755017 74755017 single base substitution C G upstream_gene_variant BRCA-FR 2 74755999 74755999 single base substitution G A exon_variant BRCA-FR 2 74755999 74755999 single base substitution G A missense_variant R135W 403C>T BRCA-FR 2 74755999 74755999 single base substitution G A upstream_gene_variant BRCA-FR 2 74757942 74757942 single base substitution G T upstream_gene_variant BRCA-US 2 74749893 74749893 single base substitution C A downstream_gene_variant BRCA-US 2 74750598 74750598 single base substitution G T downstream_gene_variant BRCA-US 2 74751035 74751035 single base substitution T C downstream_gene_variant BRCA-US 2 74752197 74752197 single base substitution C A downstream_gene_variant BRCA-US 2 74754449 74754449 single base substitution C G downstream_gene_variant BRCA-US 2 74754449 74754449 single base substitution C G exon_variant BRCA-US 2 74754449 74754449 single base substitution C G missense_variant E335Q 1003G>C BRCA-US 2 74754622 74754622 single base substitution A G downstream_gene_variant BRCA-US 2 74754622 74754622 single base substitution A G exon_variant BRCA-US 2 74754622 74754622 single base substitution A G synonymous_variant L313L 937T>C BRCA-US 2 74756062 74756062 single base substitution G A exon_variant BRCA-US 2 74756062 74756062 single base substitution G A missense_variant P114S 340C>T BRCA-US 2 74756062 74756062 single base substitution G A splice_region_variant BRCA-US 2 74756062 74756062 single base substitution G A upstream_gene_variant BRCA-US 2 74758059 74758059 single base substitution C T upstream_gene_variant BRCA-US 2 74761116 74761116 single base substitution A T upstream_gene_variant BRCA-US 2 74761688 74761688 single base substitution C T upstream_gene_variant BTCA-JP 2 74749837 74749837 deletion of <=200bp A - downstream_gene_variant BTCA-JP 2 74750022 74750022 single base substitution T A downstream_gene_variant BTCA-JP 2 74750273 74750273 single base substitution G A downstream_gene_variant BTCA-JP 2 74754144 74754144 single base substitution T G 3_prime_UTR_variant BTCA-JP 2 74754144 74754144 single base substitution T G downstream_gene_variant BTCA-JP 2 74754144 74754144 single base substitution T G exon_variant BTCA-JP 2 74754144 74754144 single base substitution T G missense_variant T374P 1120A>C BTCA-JP 2 74754216 74754216 single base substitution C T downstream_gene_variant BTCA-JP 2 74754216 74754216 single base substitution C T exon_variant BTCA-JP 2 74754216 74754216 single base substitution C T intron_variant BTCA-JP 2 74755260 74755260 single base substitution C A downstream_gene_variant BTCA-JP 2 74755260 74755260 single base substitution C A exon_variant BTCA-JP 2 74755260 74755260 single base substitution C A intron_variant BTCA-JP 2 74755260 74755260 single base substitution C A upstream_gene_variant BTCA-JP 2 74756122 74756122 single base substitution C A exon_variant BTCA-JP 2 74756122 74756122 single base substitution C A intron_variant BTCA-JP 2 74756122 74756122 single base substitution C A upstream_gene_variant BTCA-JP 2 74758602 74758602 single base substitution C T upstream_gene_variant BTCA-JP 2 74761814 74761814 single base substitution G A upstream_gene_variant BTCA-JP 2 74761858 74761858 single base substitution G A upstream_gene_variant CESC-US 2 74751187 74751187 single base substitution C T downstream_gene_variant CESC-US 2 74755126 74755126 single base substitution G A downstream_gene_variant CESC-US 2 74755126 74755126 single base substitution G A exon_variant CESC-US 2 74755126 74755126 single base substitution G A missense_variant R227C 679C>T CESC-US 2 74755126 74755126 single base substitution G A upstream_gene_variant CESC-US 2 74756717 74756717 single base substitution C G exon_variant CESC-US 2 74756717 74756717 single base substitution C G missense_variant D14H 40G>C CESC-US 2 74756717 74756717 single base substitution C G upstream_gene_variant COAD-US 2 74749713 74749713 single base substitution G A downstream_gene_variant COAD-US 2 74751195 74751195 single base substitution A C downstream_gene_variant COAD-US 2 74751208 74751208 single base substitution G C downstream_gene_variant COAD-US 2 74756548 74756548 single base substitution G C exon_variant COAD-US 2 74756548 74756548 single base substitution G C synonymous_variant L43L 129C>G COAD-US 2 74756548 74756548 single base substitution G C upstream_gene_variant COAD-US 2 74757951 74757951 deletion of <=200bp G - upstream_gene_variant COAD-US 2 74758994 74758994 single base substitution G A upstream_gene_variant COAD-US 2 74761232 74761232 single base substitution G A upstream_gene_variant COAD-US 2 74761757 74761757 single base substitution C T upstream_gene_variant COAD-US 2 74761842 74761842 single base substitution G A upstream_gene_variant COCA-CN 2 74750419 74750420 deletion of <=200bp TC - downstream_gene_variant COCA-CN 2 74755194 74755194 single base substitution C T downstream_gene_variant COCA-CN 2 74755194 74755194 single base substitution C T exon_variant COCA-CN 2 74755194 74755194 single base substitution C T intron_variant COCA-CN 2 74755194 74755194 single base substitution C T upstream_gene_variant COCA-CN 2 74755590 74755590 single base substitution A G downstream_gene_variant COCA-CN 2 74755590 74755590 single base substitution A G exon_variant COCA-CN 2 74755590 74755590 single base substitution A G missense_variant V184A 551T>C COCA-CN 2 74755590 74755590 single base substitution A G upstream_gene_variant COCA-CN 2 74756614 74756614 single base substitution G A exon_variant COCA-CN 2 74756614 74756614 single base substitution G A synonymous_variant D21D 63C>T COCA-CN 2 74756614 74756614 single base substitution G A upstream_gene_variant COCA-CN 2 74758934 74758934 single base substitution G A upstream_gene_variant COCA-CN 2 74761573 74761573 single base substitution G A upstream_gene_variant COCA-CN 2 74761849 74761849 single base substitution G T upstream_gene_variant ESAD-UK 2 74749754 74749754 single base substitution T C downstream_gene_variant ESAD-UK 2 74752072 74752072 single base substitution G C downstream_gene_variant ESAD-UK 2 74752218 74752218 single base substitution C T downstream_gene_variant ESAD-UK 2 74754092 74754092 single base substitution T G 3_prime_UTR_variant ESAD-UK 2 74754092 74754092 single base substitution T G downstream_gene_variant ESAD-UK 2 74754092 74754092 single base substitution T G exon_variant ESAD-UK 2 74754092 74754092 single base substitution T G missense_variant Q391P 1172A>C ESAD-UK 2 74755807 74755807 single base substitution T C downstream_gene_variant ESAD-UK 2 74755807 74755807 single base substitution T C intron_variant ESAD-UK 2 74755807 74755807 single base substitution T C upstream_gene_variant ESAD-UK 2 74755943 74755943 insertion of <=200bp - G downstream_gene_variant ESAD-UK 2 74755943 74755943 insertion of <=200bp - G exon_variant ESAD-UK 2 74755943 74755943 insertion of <=200bp - G frameshift_variant P153P? ESAD-UK 2 74755943 74755943 insertion of <=200bp - G upstream_gene_variant ESAD-UK 2 74757473 74757473 deletion of <=200bp G - upstream_gene_variant ESAD-UK 2 74759762 74759762 single base substitution C T upstream_gene_variant ESCA-CN 2 74754865 74754865 single base substitution G A downstream_gene_variant ESCA-CN 2 74754865 74754865 single base substitution G A exon_variant ESCA-CN 2 74754865 74754865 single base substitution G A missense_variant S280L 839C>T ESCA-CN 2 74754865 74754865 single base substitution G A splice_region_variant ESCA-CN 2 74754865 74754865 single base substitution G A upstream_gene_variant ESCA-CN 2 74756560 74756560 single base substitution G A exon_variant ESCA-CN 2 74756560 74756560 single base substitution G A synonymous_variant L39L 117C>T ESCA-CN 2 74756560 74756560 single base substitution G A upstream_gene_variant ESCA-CN 2 74757354 74757354 single base substitution C G upstream_gene_variant ESCA-CN 2 74760538 74760538 single base substitution C T upstream_gene_variant GBM-US 2 74756731 74756731 single base substitution G A exon_variant GBM-US 2 74756731 74756731 single base substitution G A missense_variant P9L 26C>T GBM-US 2 74756731 74756731 single base substitution G A upstream_gene_variant GBM-US 2 74761513 74761513 single base substitution G A upstream_gene_variant KIRC-US 2 74754424 74754424 single base substitution T C downstream_gene_variant KIRC-US 2 74754424 74754424 single base substitution T C exon_variant KIRC-US 2 74754424 74754424 single base substitution T C missense_variant E343G 1028A>G KIRP-US 2 74755401 74755401 single base substitution G T downstream_gene_variant KIRP-US 2 74755401 74755401 single base substitution G T exon_variant KIRP-US 2 74755401 74755401 single base substitution G T missense_variant F215L 645C>A KIRP-US 2 74755401 74755401 single base substitution G T upstream_gene_variant KIRP-US 2 74761483 74761483 single base substitution G A upstream_gene_variant LAML-CN 2 74758129 74758129 single base substitution A G upstream_gene_variant LAML-KR 2 74758143 74758143 single base substitution G A upstream_gene_variant LAML-KR 2 74758934 74758934 single base substitution G A upstream_gene_variant LGG-US 2 74750021 74750021 single base substitution A G downstream_gene_variant LGG-US 2 74757185 74757185 insertion of <=200bp - G upstream_gene_variant LICA-CN 2 74751413 74751413 single base substitution A C downstream_gene_variant LICA-CN 2 74754380 74754380 single base substitution A T downstream_gene_variant LICA-CN 2 74754380 74754380 single base substitution A T exon_variant LICA-CN 2 74754380 74754380 single base substitution A T missense_variant S358T 1072T>A LICA-CN 2 74758066 74758066 single base substitution G T upstream_gene_variant LICA-FR 2 74754122 74754122 single base substitution G A 3_prime_UTR_variant LICA-FR 2 74754122 74754122 single base substitution G A downstream_gene_variant LICA-FR 2 74754122 74754122 single base substitution G A exon_variant LICA-FR 2 74754122 74754122 single base substitution G A missense_variant A381V 1142C>T LICA-FR 2 74754930 74754930 single base substitution C T downstream_gene_variant LICA-FR 2 74754930 74754930 single base substitution C T exon_variant LICA-FR 2 74754930 74754930 single base substitution C T synonymous_variant R258R 774G>A LICA-FR 2 74754930 74754930 single base substitution C T upstream_gene_variant LICA-FR 2 74757186 74757186 single base substitution G A upstream_gene_variant LICA-FR 2 74757616 74757616 single base substitution G A upstream_gene_variant LIHC-US 2 74751076 74751076 single base substitution C T downstream_gene_variant LIHC-US 2 74754135 74754135 single base substitution T C 3_prime_UTR_variant LIHC-US 2 74754135 74754135 single base substitution T C downstream_gene_variant LIHC-US 2 74754135 74754135 single base substitution T C exon_variant LIHC-US 2 74754135 74754135 single base substitution T C missense_variant K377E 1129A>G LIHC-US 2 74754660 74754660 single base substitution A T downstream_gene_variant LIHC-US 2 74754660 74754660 single base substitution A T exon_variant LIHC-US 2 74754660 74754660 single base substitution A T missense_variant L300Q 899T>A LIHC-US 2 74755115 74755115 deletion of <=200bp A - downstream_gene_variant LIHC-US 2 74755115 74755115 deletion of <=200bp A - exon_variant LIHC-US 2 74755115 74755115 deletion of <=200bp A - frameshift_variant H230 LIHC-US 2 74755115 74755115 deletion of <=200bp A - upstream_gene_variant LIHC-US 2 74757144 74757144 single base substitution C T upstream_gene_variant LIHC-US 2 74757336 74757336 single base substitution C G upstream_gene_variant LIHC-US 2 74757927 74757927 single base substitution A G upstream_gene_variant LIHC-US 2 74761507 74761507 single base substitution A G upstream_gene_variant LINC-JP 2 74750753 74750753 single base substitution C T downstream_gene_variant LINC-JP 2 74754467 74754467 single base substitution T A downstream_gene_variant LINC-JP 2 74754467 74754467 single base substitution T A exon_variant LINC-JP 2 74754467 74754467 single base substitution T A missense_variant T329S 985A>T LINC-JP 2 74754829 74754829 single base substitution A C downstream_gene_variant LINC-JP 2 74754829 74754829 single base substitution A C intron_variant LINC-JP 2 74754829 74754829 single base substitution A C upstream_gene_variant LINC-JP 2 74757348 74757348 single base substitution T A upstream_gene_variant LINC-JP 2 74757595 74757595 insertion of <=200bp - GGAGAAGAC upstream_gene_variant LINC-JP 2 74759614 74759614 single base substitution C T upstream_gene_variant LINC-JP 2 74760133 74760133 single base substitution G A upstream_gene_variant LINC-JP 2 74762063 74762063 single base substitution C T upstream_gene_variant LIRI-JP 2 74755781 74755781 single base substitution T C downstream_gene_variant LIRI-JP 2 74755781 74755781 single base substitution T C intron_variant LIRI-JP 2 74755781 74755781 single base substitution T C upstream_gene_variant LIRI-JP 2 74759454 74759454 single base substitution A C upstream_gene_variant LIRI-JP 2 74760079 74760079 single base substitution G C upstream_gene_variant LIRI-JP 2 74761143 74761143 single base substitution T G upstream_gene_variant LUSC-KR 2 74754417 74754417 single base substitution G C downstream_gene_variant LUSC-KR 2 74754417 74754417 single base substitution G C exon_variant LUSC-KR 2 74754417 74754417 single base substitution G C missense_variant I345M 1035C>G LUSC-KR 2 74754532 74754532 single base substitution C G downstream_gene_variant LUSC-KR 2 74754532 74754532 single base substitution C G exon_variant LUSC-KR 2 74754532 74754532 single base substitution C G intron_variant LUSC-KR 2 74758934 74758934 single base substitution G A upstream_gene_variant LUSC-KR 2 74759620 74759620 single base substitution A G upstream_gene_variant LUSC-US 2 74750078 74750078 single base substitution G T downstream_gene_variant LUSC-US 2 74756577 74756577 single base substitution C T exon_variant LUSC-US 2 74756577 74756577 single base substitution C T missense_variant V34I 100G>A LUSC-US 2 74756577 74756577 single base substitution C T upstream_gene_variant LUSC-US 2 74757145 74757145 single base substitution G A upstream_gene_variant LUSC-US 2 74757203 74757203 single base substitution C T upstream_gene_variant LUSC-US 2 74758161 74758161 single base substitution C G upstream_gene_variant LUSC-US 2 74761091 74761091 single base substitution T A upstream_gene_variant LUSC-US 2 74761715 74761715 single base substitution C T upstream_gene_variant MALY-DE 2 74750353 74750353 single base substitution C T downstream_gene_variant MALY-DE 2 74751131 74751131 single base substitution C G downstream_gene_variant MELA-AU 2 74748789 74748789 single base substitution A T downstream_gene_variant MELA-AU 2 74748825 74748825 single base substitution G A downstream_gene_variant MELA-AU 2 74748840 74748840 single base substitution C T downstream_gene_variant MELA-AU 2 74748893 74748893 single base substitution C T downstream_gene_variant MELA-AU 2 74749460 74749460 single base substitution G A downstream_gene_variant MELA-AU 2 74749873 74749873 single base substitution C T downstream_gene_variant MELA-AU 2 74750050 74750050 single base substitution G A downstream_gene_variant MELA-AU 2 74750282 74750282 single base substitution C T downstream_gene_variant MELA-AU 2 74750324 74750324 single base substitution C T downstream_gene_variant MELA-AU 2 74750326 74750326 single base substitution C T downstream_gene_variant MELA-AU 2 74750724 74750724 single base substitution C T downstream_gene_variant MELA-AU 2 74750894 74750894 single base substitution C T downstream_gene_variant MELA-AU 2 74751210 74751210 single base substitution G A downstream_gene_variant MELA-AU 2 74751498 74751498 single base substitution G A downstream_gene_variant MELA-AU 2 74751690 74751690 single base substitution G A downstream_gene_variant MELA-AU 2 74752273 74752273 single base substitution A C downstream_gene_variant MELA-AU 2 74752292 74752292 single base substitution C T downstream_gene_variant MELA-AU 2 74752430 74752430 single base substitution G A downstream_gene_variant MELA-AU 2 74752549 74752549 single base substitution C T downstream_gene_variant MELA-AU 2 74752550 74752550 single base substitution C T downstream_gene_variant MELA-AU 2 74753202 74753202 single base substitution G A downstream_gene_variant MELA-AU 2 74753359 74753360 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 74754183 74754183 single base substitution G A 3_prime_UTR_variant MELA-AU 2 74754183 74754183 single base substitution G A downstream_gene_variant MELA-AU 2 74754183 74754183 single base substitution G A exon_variant MELA-AU 2 74754183 74754183 single base substitution G A missense_variant P361S 1081C>T MELA-AU 2 74754459 74754459 single base substitution A T downstream_gene_variant MELA-AU 2 74754459 74754459 single base substitution A T exon_variant MELA-AU 2 74754459 74754459 single base substitution A T synonymous_variant T331T 993T>A MELA-AU 2 74754496 74754496 single base substitution G A downstream_gene_variant MELA-AU 2 74754496 74754496 single base substitution G A exon_variant MELA-AU 2 74754496 74754496 single base substitution G A splice_region_variant MELA-AU 2 74754505 74754505 single base substitution G A downstream_gene_variant MELA-AU 2 74754505 74754505 single base substitution G A exon_variant MELA-AU 2 74754505 74754505 single base substitution G A intron_variant MELA-AU 2 74754730 74754730 single base substitution G A downstream_gene_variant MELA-AU 2 74754730 74754730 single base substitution G A exon_variant MELA-AU 2 74754730 74754730 single base substitution G A intron_variant MELA-AU 2 74755061 74755061 single base substitution G A downstream_gene_variant MELA-AU 2 74755061 74755061 single base substitution G A exon_variant MELA-AU 2 74755061 74755061 single base substitution G A splice_region_variant MELA-AU 2 74755061 74755061 single base substitution G A upstream_gene_variant MELA-AU 2 74755178 74755178 single base substitution G A downstream_gene_variant MELA-AU 2 74755178 74755178 single base substitution G A exon_variant MELA-AU 2 74755178 74755178 single base substitution G A intron_variant MELA-AU 2 74755178 74755178 single base substitution G A upstream_gene_variant MELA-AU 2 74755295 74755296 multiple base substitution (>=2bp and <=200bp) TG AA downstream_gene_variant MELA-AU 2 74755295 74755296 multiple base substitution (>=2bp and <=200bp) TG AA exon_variant MELA-AU 2 74755295 74755296 multiple base substitution (>=2bp and <=200bp) TG AA intron_variant MELA-AU 2 74755295 74755296 multiple base substitution (>=2bp and <=200bp) TG AA upstream_gene_variant MELA-AU 2 74755342 74755342 single base substitution C T downstream_gene_variant MELA-AU 2 74755342 74755342 single base substitution C T exon_variant MELA-AU 2 74755342 74755342 single base substitution C T intron_variant MELA-AU 2 74755342 74755342 single base substitution C T upstream_gene_variant MELA-AU 2 74755617 74755617 single base substitution C T downstream_gene_variant MELA-AU 2 74755617 74755617 single base substitution C T splice_acceptor_variant MELA-AU 2 74755617 74755617 single base substitution C T upstream_gene_variant MELA-AU 2 74755635 74755635 single base substitution A T downstream_gene_variant MELA-AU 2 74755635 74755635 single base substitution A T intron_variant MELA-AU 2 74755635 74755635 single base substitution A T upstream_gene_variant MELA-AU 2 74756682 74756682 single base substitution G A intron_variant MELA-AU 2 74756682 74756682 single base substitution G A upstream_gene_variant MELA-AU 2 74756850 74756850 single base substitution C T 5_prime_UTR_variant MELA-AU 2 74756850 74756850 single base substitution C T exon_variant MELA-AU 2 74756850 74756850 single base substitution C T upstream_gene_variant MELA-AU 2 74756892 74756892 single base substitution G A 5_prime_UTR_variant MELA-AU 2 74756892 74756892 single base substitution G A upstream_gene_variant MELA-AU 2 74756892 74756893 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 2 74756892 74756893 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 74757646 74757646 single base substitution G A upstream_gene_variant MELA-AU 2 74757769 74757769 single base substitution C T upstream_gene_variant MELA-AU 2 74759903 74759903 single base substitution G A upstream_gene_variant MELA-AU 2 74760901 74760901 single base substitution G A upstream_gene_variant MELA-AU 2 74760942 74760942 single base substitution G T upstream_gene_variant MELA-AU 2 74761328 74761328 single base substitution C T upstream_gene_variant MELA-AU 2 74761807 74761807 single base substitution C T upstream_gene_variant ORCA-IN 2 74748940 74748940 single base substitution G A downstream_gene_variant ORCA-IN 2 74753344 74753344 single base substitution A G downstream_gene_variant ORCA-IN 2 74754382 74754382 single base substitution G T downstream_gene_variant ORCA-IN 2 74754382 74754382 single base substitution G T exon_variant ORCA-IN 2 74754382 74754382 single base substitution G T missense_variant A357D 1070C>A ORCA-IN 2 74756443 74756443 single base substitution C G exon_variant ORCA-IN 2 74756443 74756443 single base substitution C G intron_variant ORCA-IN 2 74756443 74756443 single base substitution C G upstream_gene_variant ORCA-IN 2 74759821 74759821 single base substitution C T upstream_gene_variant ORCA-IN 2 74761346 74761346 single base substitution C A upstream_gene_variant OV-AU 2 74752366 74752366 single base substitution G A downstream_gene_variant OV-AU 2 74757177 74757177 single base substitution G C upstream_gene_variant OV-AU 2 74757178 74757178 single base substitution G C upstream_gene_variant OV-US 2 74751165 74751165 single base substitution G A downstream_gene_variant PACA-AU 2 74752581 74752581 single base substitution A C downstream_gene_variant PACA-AU 2 74756636 74756636 single base substitution A C intron_variant PACA-AU 2 74756636 74756636 single base substitution A C upstream_gene_variant PACA-AU 2 74758370 74758370 single base substitution G A upstream_gene_variant PACA-AU 2 74760989 74760989 single base substitution T C upstream_gene_variant PACA-CA 2 74749132 74749132 single base substitution A G downstream_gene_variant PACA-CA 2 74750556 74750556 single base substitution G A downstream_gene_variant PACA-CA 2 74751022 74751022 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 74752323 74752323 single base substitution G T downstream_gene_variant PACA-CA 2 74752340 74752340 single base substitution A C downstream_gene_variant PACA-CA 2 74753881 74753881 single base substitution C A 3_prime_UTR_variant PACA-CA 2 74753881 74753881 single base substitution C A downstream_gene_variant PACA-CA 2 74753881 74753881 single base substitution C A exon_variant PACA-CA 2 74755173 74755173 single base substitution G A downstream_gene_variant PACA-CA 2 74755173 74755173 single base substitution G A exon_variant PACA-CA 2 74755173 74755173 single base substitution G A intron_variant PACA-CA 2 74755173 74755173 single base substitution G A upstream_gene_variant PACA-CA 2 74759769 74759769 single base substitution G A upstream_gene_variant PACA-CA 2 74760620 74760620 single base substitution T C upstream_gene_variant PACA-CA 2 74760680 74760680 single base substitution C G upstream_gene_variant PBCA-DE 2 74748903 74748903 single base substitution C T downstream_gene_variant PBCA-DE 2 74755445 74755445 single base substitution C G downstream_gene_variant PBCA-DE 2 74755445 74755445 single base substitution C G exon_variant PBCA-DE 2 74755445 74755445 single base substitution C G missense_variant V201L 601G>C PBCA-DE 2 74755445 74755445 single base substitution C G upstream_gene_variant PBCA-DE 2 74760008 74760008 single base substitution G A upstream_gene_variant PRAD-UK 2 74756128 74756128 single base substitution T C exon_variant PRAD-UK 2 74756128 74756128 single base substitution T C intron_variant PRAD-UK 2 74756128 74756128 single base substitution T C upstream_gene_variant PRAD-US 2 74750268 74750268 single base substitution C T downstream_gene_variant PRAD-US 2 74750442 74750442 single base substitution G T downstream_gene_variant READ-US 2 74751136 74751136 single base substitution G A downstream_gene_variant READ-US 2 74755993 74755993 deletion of <=200bp C - exon_variant READ-US 2 74755993 74755993 deletion of <=200bp C - frameshift_variant E137 READ-US 2 74755993 74755993 deletion of <=200bp C - upstream_gene_variant RECA-EU 2 74756195 74756195 single base substitution G A exon_variant RECA-EU 2 74756195 74756195 single base substitution G A intron_variant RECA-EU 2 74756195 74756195 single base substitution G A upstream_gene_variant SKCA-BR 2 74749907 74749907 single base substitution G A downstream_gene_variant SKCA-BR 2 74750721 74750721 single base substitution G A downstream_gene_variant SKCA-BR 2 74753774 74753774 single base substitution A G 3_prime_UTR_variant SKCA-BR 2 74753774 74753774 single base substitution A G downstream_gene_variant SKCA-BR 2 74754115 74754115 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 74754115 74754115 single base substitution C T downstream_gene_variant SKCA-BR 2 74754115 74754115 single base substitution C T exon_variant SKCA-BR 2 74754115 74754115 single base substitution C T synonymous_variant Q383Q 1149G>A SKCA-BR 2 74754970 74754970 single base substitution G A downstream_gene_variant SKCA-BR 2 74754970 74754970 single base substitution G A exon_variant SKCA-BR 2 74754970 74754970 single base substitution G A splice_region_variant SKCA-BR 2 74754970 74754970 single base substitution G A upstream_gene_variant SKCA-BR 2 74756339 74756339 single base substitution G A exon_variant SKCA-BR 2 74756339 74756339 single base substitution G A missense_variant H87Y 259C>T SKCA-BR 2 74756339 74756339 single base substitution G A upstream_gene_variant SKCA-BR 2 74756893 74756893 single base substitution G A 5_prime_UTR_variant SKCA-BR 2 74756893 74756893 single base substitution G A upstream_gene_variant SKCA-BR 2 74757508 74757508 single base substitution T G upstream_gene_variant SKCA-BR 2 74757514 74757514 single base substitution T G upstream_gene_variant SKCA-BR 2 74758419 74758419 single base substitution G C upstream_gene_variant SKCM-US 2 74749796 74749796 single base substitution G A downstream_gene_variant SKCM-US 2 74750029 74750029 single base substitution C T downstream_gene_variant SKCM-US 2 74750093 74750093 single base substitution G A downstream_gene_variant SKCM-US 2 74750657 74750657 single base substitution G A downstream_gene_variant SKCM-US 2 74751085 74751085 single base substitution G A downstream_gene_variant SKCM-US 2 74751156 74751156 single base substitution C T downstream_gene_variant SKCM-US 2 74751370 74751370 single base substitution C T downstream_gene_variant SKCM-US 2 74754932 74754932 single base substitution G A downstream_gene_variant SKCM-US 2 74754932 74754932 single base substitution G A exon_variant SKCM-US 2 74754932 74754932 single base substitution G A missense_variant R258W 772C>T SKCM-US 2 74754932 74754932 single base substitution G A upstream_gene_variant SKCM-US 2 74757235 74757235 single base substitution C T upstream_gene_variant SKCM-US 2 74757402 74757402 single base substitution C T upstream_gene_variant SKCM-US 2 74757769 74757769 single base substitution C T upstream_gene_variant SKCM-US 2 74761257 74761257 single base substitution C T upstream_gene_variant SKCM-US 2 74761311 74761311 single base substitution C A upstream_gene_variant SKCM-US 2 74761740 74761740 single base substitution A G upstream_gene_variant STAD-US 2 74749707 74749707 single base substitution C A downstream_gene_variant STAD-US 2 74750267 74750267 single base substitution G A downstream_gene_variant STAD-US 2 74750442 74750442 single base substitution G A downstream_gene_variant STAD-US 2 74750496 74750496 single base substitution A C downstream_gene_variant STAD-US 2 74750531 74750531 single base substitution G A downstream_gene_variant STAD-US 2 74754076 74754076 single base substitution G A 3_prime_UTR_variant STAD-US 2 74754076 74754076 single base substitution G A downstream_gene_variant STAD-US 2 74754076 74754076 single base substitution G A exon_variant STAD-US 2 74754076 74754076 single base substitution G A synonymous_variant Y396Y 1188C>T STAD-US 2 74754151 74754151 single base substitution T A 3_prime_UTR_variant STAD-US 2 74754151 74754151 single base substitution T A downstream_gene_variant STAD-US 2 74754151 74754151 single base substitution T A exon_variant STAD-US 2 74754151 74754151 single base substitution T A synonymous_variant T371T 1113A>T STAD-US 2 74754443 74754443 deletion of <=200bp C - downstream_gene_variant STAD-US 2 74754443 74754443 deletion of <=200bp C - exon_variant STAD-US 2 74754443 74754443 deletion of <=200bp C - frameshift_variant A337 STAD-US 2 74754634 74754634 single base substitution G A downstream_gene_variant STAD-US 2 74754634 74754634 single base substitution G A exon_variant STAD-US 2 74754634 74754634 single base substitution G A missense_variant P309S 925C>T STAD-US 2 74754869 74754869 deletion of <=200bp G - downstream_gene_variant STAD-US 2 74754869 74754869 deletion of <=200bp G - exon_variant STAD-US 2 74754869 74754869 deletion of <=200bp G - frameshift_variant Q279 STAD-US 2 74754869 74754869 deletion of <=200bp G - upstream_gene_variant STAD-US 2 74755023 74755023 single base substitution C A downstream_gene_variant STAD-US 2 74755023 74755023 single base substitution C A exon_variant STAD-US 2 74755023 74755023 single base substitution C A intron_variant STAD-US 2 74755023 74755023 single base substitution C A upstream_gene_variant STAD-US 2 74755569 74755569 single base substitution T C downstream_gene_variant STAD-US 2 74755569 74755569 single base substitution T C exon_variant STAD-US 2 74755569 74755569 single base substitution T C missense_variant Q191R 572A>G STAD-US 2 74755569 74755569 single base substitution T C upstream_gene_variant STAD-US 2 74755993 74755993 deletion of <=200bp C - exon_variant STAD-US 2 74755993 74755993 deletion of <=200bp C - frameshift_variant E137 STAD-US 2 74755993 74755993 deletion of <=200bp C - upstream_gene_variant STAD-US 2 74756072 74756074 deletion of <=200bp AGG - exon_variant STAD-US 2 74756072 74756074 deletion of <=200bp AGG - intron_variant STAD-US 2 74756072 74756074 deletion of <=200bp AGG - upstream_gene_variant STAD-US 2 74757166 74757166 single base substitution C T upstream_gene_variant STAD-US 2 74757242 74757242 single base substitution G A upstream_gene_variant STAD-US 2 74757473 74757473 deletion of <=200bp G - upstream_gene_variant STAD-US 2 74757775 74757775 single base substitution T C upstream_gene_variant STAD-US 2 74757811 74757811 single base substitution C A upstream_gene_variant STAD-US 2 74758134 74758134 single base substitution A G upstream_gene_variant STAD-US 2 74759794 74759794 single base substitution G A upstream_gene_variant STAD-US 2 74760069 74760069 single base substitution G A upstream_gene_variant STAD-US 2 74761465 74761465 single base substitution G A upstream_gene_variant UCEC-US 2 74750060 74750060 single base substitution T C downstream_gene_variant UCEC-US 2 74751333 74751333 single base substitution G A downstream_gene_variant UCEC-US 2 74752202 74752202 single base substitution G C downstream_gene_variant UCEC-US 2 74753947 74753947 single base substitution G A 3_prime_UTR_variant UCEC-US 2 74753947 74753947 single base substitution G A downstream_gene_variant UCEC-US 2 74753947 74753947 single base substitution G A exon_variant UCEC-US 2 74753947 74753947 single base substitution G A stop_gained R405* 1213C>T UCEC-US 2 74754150 74754150 single base substitution C T 3_prime_UTR_variant UCEC-US 2 74754150 74754150 single base substitution C T downstream_gene_variant UCEC-US 2 74754150 74754150 single base substitution C T exon_variant UCEC-US 2 74754150 74754150 single base substitution C T missense_variant A372T 1114G>A UCEC-US 2 74754170 74754170 single base substitution G A 3_prime_UTR_variant UCEC-US 2 74754170 74754170 single base substitution G A downstream_gene_variant UCEC-US 2 74754170 74754170 single base substitution G A exon_variant UCEC-US 2 74754170 74754170 single base substitution G A missense_variant P365L 1094C>T UCEC-US 2 74754243 74754243 single base substitution G A downstream_gene_variant UCEC-US 2 74754243 74754243 single base substitution G A exon_variant UCEC-US 2 74754243 74754243 single base substitution G A intron_variant UCEC-US 2 74754422 74754422 single base substitution C T downstream_gene_variant UCEC-US 2 74754422 74754422 single base substitution C T exon_variant UCEC-US 2 74754422 74754422 single base substitution C T missense_variant D344N 1030G>A UCEC-US 2 74755126 74755126 single base substitution G A downstream_gene_variant UCEC-US 2 74755126 74755126 single base substitution G A exon_variant UCEC-US 2 74755126 74755126 single base substitution G A missense_variant R227C 679C>T UCEC-US 2 74755126 74755126 single base substitution G A upstream_gene_variant UCEC-US 2 74755129 74755129 single base substitution G A downstream_gene_variant UCEC-US 2 74755129 74755129 single base substitution G A exon_variant UCEC-US 2 74755129 74755129 single base substitution G A missense_variant L226F 676C>T UCEC-US 2 74755129 74755129 single base substitution G A upstream_gene_variant UCEC-US 2 74755981 74755981 single base substitution A G exon_variant UCEC-US 2 74755981 74755981 single base substitution A G missense_variant S141P 421T>C UCEC-US 2 74755981 74755981 single base substitution A G upstream_gene_variant UCEC-US 2 74756061 74756061 single base substitution G T exon_variant UCEC-US 2 74756061 74756061 single base substitution G T missense_variant P114H 341C>A UCEC-US 2 74756061 74756061 single base substitution G T splice_region_variant UCEC-US 2 74756061 74756061 single base substitution G T upstream_gene_variant UCEC-US 2 74758793 74758793 single base substitution C A upstream_gene_variant UCEC-US 2 74758800 74758800 single base substitution G A upstream_gene_variant UCEC-US 2 74759015 74759015 single base substitution C T upstream_gene_variant UCEC-US 2 74759768 74759768 single base substitution C T upstream_gene_variant UCEC-US 2 74760030 74760030 single base substitution G A upstream_gene_variant UCEC-US 2 74761527 74761530 deletion of <=200bp AGTG - upstream_gene_variant UCEC-US 2 74761554 74761554 single base substitution A G upstream_gene_variant UCEC-US 2 74761840 74761840 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-29-1770-01 COSM1326958 c.945C>T p.V315V Substitution - coding silent 2:74527487-74527487 - HCT8 COSM4634863 c.153G>T p.L51L Substitution - coding silent 2:74529397-74529397 - TCGA-CG-5721-01 COSM4095815 c.1113A>T p.T371T Substitution - coding silent 2:74527024-74527024 - ESO-963 COSM1245841 c.1049A>G p.Q350R Substitution - Missense 2:74527276-74527276 - S02285 COSM5684773 c.728G>T p.R243L Substitution - Missense 2:74527950-74527950 - OSCC-GB_00170111 COSM3714239 c.1070C>A p.A357D Substitution - Missense 2:74527255-74527255 - S02248 COSM5702016 c.766_767GG>TA p.G256* Substitution - Nonsense 2:74527810-74527811 - TCGA-D9-A149-06 COSM2999852 c.772C>T p.R258W Substitution - Missense 2:74527805-74527805 - 3006_T COSM3963081 c.291G>A p.V97V Substitution - coding silent 2:74529180-74529180 - TCGA-D8-A1XT-01 COSM1483283 c.937T>C p.L313L Substitution - coding silent 2:74527495-74527495 - B63 COSM1752675 c.1166G>A p.R389H Substitution - Missense 2:74526971-74526971 - sysucc-1397T COSM5474509 c.551T>C p.V184A Substitution - Missense 2:74528463-74528463 - SNU-175 COSM2999847 c.1145G>A p.R382Q Substitution - Missense 2:74526992-74526992 - ESO-051 COSM1245840 c.246C>G p.S82S Substitution - coding silent 2:74529225-74529225 - sysucc-274T COSM5476400 c.63C>T p.D21D Substitution - coding silent 2:74529487-74529487 - TCGA-A5-A0VP-01 COSM1023047 c.421T>C p.S141P Substitution - Missense 2:74528854-74528854 - TCGA-GV-A40G-01 COSM3799202 c.235C>T p.Q79* Substitution - Nonsense 2:74529236-74529236 - T3262 COSM4664746 c.202A>G p.T68A Substitution - Missense 2:74529269-74529269 - TCGA-AP-A051-01 COSM1023046 c.676C>T p.L226F Substitution - Missense 2:74528002-74528002 - TCGA-AP-A059-01 COSM1023048 c.341C>A p.P114H Substitution - Missense 2:74528934-74528934 - KM12 COSM1669089 c.727C>T p.R243C Substitution - Missense 2:74527951-74527951 - 8057501 COSM3770744 c.51-10T>G p.? Unknown 2:74529509-74529509 - LIM2099 COSM4641193 c.527C>T p.S176F Substitution - Missense 2:74528487-74528487 - CSCC-20-T COSM4459499 c.1128C>T p.A376A Substitution - coding silent 2:74527009-74527009 - LS411 COSM2999850 c.984G>T p.L328F Substitution - Missense 2:74527341-74527341 - TCGA-FD-A3SL-01 COSM3799201 c.752A>G p.E251G Substitution - Missense 2:74527825-74527825 - TCGA-AX-A0J0-01 COSM259586 c.679C>T p.R227C Substitution - Missense 2:74527999-74527999 - TCGA-B0-4852-01 COSM477652 c.1028A>G p.E343G Substitution - Missense 2:74527297-74527297 - TCGA-66-2759-01 COSM722483 c.100G>A p.V34I Substitution - Missense 2:74529450-74529450 - 2492725 COSM5724650 c.1201T>C p.F401L Substitution - Missense 2:74526832-74526832 - PD7243a COSM5795279 c.180C>A p.V60V Substitution - coding silent 2:74529370-74529370 - CSCC-41-T COSM4520123 c.1043G>A p.G348E Substitution - Missense 2:74527282-74527282 - CHC892T COSM4794400 c.1142C>T p.A381V Substitution - Missense 2:74526995-74526995 - LIM1899 COSM4613093 c.403_404delCG p.R135fs*26 Deletion - Frameshift 2:74528871-74528872 - LIM1215 COSM4315336 c.1161G>T p.Q387H Substitution - Missense 2:74526976-74526976 - TCGA-BR-6452-01 COSM4095816 c.925C>T p.P309S Substitution - Missense 2:74527507-74527507 - TCGA-CG-4306-01 COSM4095817 c.572A>G p.Q191R Substitution - Missense 2:74528442-74528442 - S00831 COSM5660556 c.470T>A p.L157Q Substitution - Missense 2:74528805-74528805 - TCGA-D1-A17Q-01 COSM1023042 c.1213C>T p.R405* Substitution - Nonsense 2:74526820-74526820 - TCGA-14-0817-01 COSM3407989 c.26C>T p.P9L Substitution - Missense 2:74529604-74529604 - TCGA-EI-6507-01 COSM1565461 c.409delG p.E137fs*63 Deletion - Frameshift 2:74528866-74528866 - TCGA-BS-A0UV-01 COSM1023043 c.1114G>A p.A372T Substitution - Missense 2:74527023-74527023 - TCGA-MH-A561-01 COSM3991463 c.645C>A p.F215L Substitution - Missense 2:74528274-74528274 - HCC24T COSM3659960 c.985A>T p.T329S Substitution - Missense 2:74527340-74527340 - NYU658 COSM4771178 c.344T>A p.L115Q Substitution - Missense 2:74528931-74528931 - TCGA-G2-A3IE-01 COSM1307008 c.984G>C p.L328F Substitution - Missense 2:74527341-74527341 - CHC892T COSM4794400 c.1142C>T p.A381V Substitution - Missense 2:74526995-74526995 - ESO-0292 COSM1240882 c.583C>T p.P195S Substitution - Missense 2:74528431-74528431 - TCGA-FU-A3HZ-01 COSM259586 c.679C>T p.R227C Substitution - Missense 2:74527999-74527999 - 8014573 COSM3770744 c.51-10T>G p.? Unknown 2:74529509-74529509 - SA084 COSM213507 c.751G>A p.E251K Substitution - Missense 2:74527826-74527826 - B63-Tumor COSM1752675 c.1166G>A p.R389H Substitution - Missense 2:74526971-74526971 - 6115227 COSM5565357 c.829C>T p.R277C Substitution - Missense 2:74527748-74527748 - TCGA-A7-A13D-01 COSM443235 c.340C>T p.P114S Substitution - Missense 2:74528935-74528935 - LUAD-NYU315 COSM373625 c.213G>C p.A71A Substitution - coding silent 2:74529258-74529258 - TCGA-B5-A11E-01 COSM1023044 c.1094C>T p.P365L Substitution - Missense 2:74527043-74527043 - ESCC-237T COSM3939178 c.117C>T p.L39L Substitution - coding silent 2:74529433-74529433 - 2492724 COSM5724650 c.1201T>C p.F401L Substitution - Missense 2:74526832-74526832 - TCGA-BR-8680-01 COSM4095814 c.1188C>T p.Y396Y Substitution - coding silent 2:74526949-74526949 - CSCC-40-T COSM4455854 c.92A>T p.Y31F Substitution - Missense 2:74529458-74529458 - 8066067 COSM3770744 c.51-10T>G p.? Unknown 2:74529509-74529509 - TCGA-DD-A73F-01 COSM4935372 c.899T>A p.L300Q Substitution - Missense 2:74527533-74527533 - TCGA-A2-A0D0-01 COSM443234 c.1003G>C p.E335Q Substitution - Missense 2:74527322-74527322 - CSCC-47-T COSM4511545 c.872C>T p.P291L Substitution - Missense 2:74527560-74527560 - I2L-P7-Tumor-Organoid COSM2999852 c.772C>T p.R258W Substitution - Missense 2:74527805-74527805 - WT031 COSM5351953 c.738+2T>G p.? Unknown 2:74527938-74527938 - TCGA-DD-A4NI-01 COSM4926210 c.1129A>G p.K377E Substitution - Missense 2:74527008-74527008 - PCA17-2 COSM5415704 c.1102C>A p.P368T Substitution - Missense 2:74527035-74527035 - TCGA-BS-A0UF-01 COSM1023045 c.1030G>A p.D344N Substitution - Missense 2:74527295-74527295 - T3174 COSM4664745 c.1041G>T p.K347N Substitution - Missense 2:74527284-74527284 - PD11462a COSM5783100 c.403C>T p.R135W Substitution - Missense 2:74528872-74528872 - CSCC-29-T COSM4496542 c.477C>T p.F159F Substitution - coding silent 2:74528798-74528798 - 16246 COSM5615128 c.346C>T p.L116F Substitution - Missense 2:74528929-74528929 - SNU-175 COSM2999852 c.772C>T p.R258W Substitution - Missense 2:74527805-74527805 - DN12015 COSM5783100 c.403C>T p.R135W Substitution - Missense 2:74528872-74528872 - HCC021T COSM5815529 c.1072T>A p.S358T Substitution - Missense 2:74527253-74527253 - ESCC_BICR_024T COSM5440939 c.839C>T p.S280L Substitution - Missense 2:74527738-74527738 - ICGC_MB49 COSM215885 c.601G>C p.V201L Substitution - Missense 2:74528318-74528318 - CHC892T COSM4959635 c.774G>A p.R258R Substitution - coding silent 2:74527803-74527803 - TCGA-AM-5821-01 COSM3758375 c.129C>G p.L43L Substitution - coding silent 2:74529421-74529421 - 8066081 COSM3770744 c.51-10T>G p.? Unknown 2:74529509-74529509 - 2492726 COSM5724650 c.1201T>C p.F401L Substitution - Missense 2:74526832-74526832 - HCT15 COSM2999845 c.1173A>G p.Q391Q Substitution - coding silent 2:74526964-74526964 - 8057513 COSM3770744 c.51-10T>G p.? Unknown 2:74529509-74529509 - DLD1 COSM2999845 c.1173A>G p.Q391Q Substitution - coding silent 2:74526964-74526964 - HCC24 COSM3659960 c.985A>T p.T329S Substitution - Missense 2:74527340-74527340 - CHC892T COSM4959635 c.774G>A p.R258R Substitution - coding silent 2:74527803-74527803 - PD12803a COSM3769912 c.455C>T p.P152L Substitution - Missense 2:74528820-74528820 - KM12 COSM1669089 c.727C>T p.R243C Substitution - Missense 2:74527951-74527951 - 17T COSM3714239 c.1070C>A p.A357D Substitution - Missense 2:74527255-74527255 - 587246 COSM1184253 c.143A>G p.H48R Substitution - Missense 2:74529407-74529407 - CSCC-44-T COSM4467812 c.150C>T p.F50F Substitution - coding silent 2:74529400-74529400 - TCGA-AG-A002-01 COSM259586 c.679C>T p.R227C Substitution - Missense 2:74527999-74527999 - TCGA-JX-A3Q0-01 COSM4824267 c.40G>C p.D14H Substitution - Missense 2:74529590-74529590 - CSCC-16-T COSM4455242 c.704A>G p.E235G Substitution - Missense 2:74527974-74527974 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.411480 2p13 602434

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.S141P c.421T>C 2 74755981 UCEC A G Synonymous p.L313L c.937T>C 2 74754622 BRCA C A Synonymous p.L190L c.570G>T 2 74755571 HNSC C G Missense p.E335Q c.1003G>C 2 74754449 BRCA C G Missense p.L328F c.984G>C 2 74754468 BLCA C G Missense p.V201L c.601G>C 2 74755445 MB C T Missense p.E251K c.751G>A 2 74754953 BRCA C T Missense p.V185I c.553G>A 2 74755588 LUAD C T Missense p.V34I c.100G>A 2 74756577 LUSC G A 3-UTRSNV . c.1230+116C>T 2 74753814 CM G A IntronicSNV . c.1077+69C>T 2 74754306 CM G A Missense p.L116F c.346C>T 2 74756056 NSCLC G A Missense p.P114S c.340C>T 2 74756062 BRCA G A Missense p.P9L c.26C>T 2 74756731 GBM G A Missense p.R258W c.772C>T 2 74754932 CM G A Synonymous p.F64F c.192C>T 2 74756406 HNSC G A Synonymous p.R231R c.693C>T 2 74755112 LUAD G C Synonymous p.S82S c.246C>G 2 74756352 ESCA G - Frameshift p.L373*fs*1 c.1117delC 2 74754147 THCA G T IntronicSNV . c.339+29C>A 2 74756230 NSCLC T C Missense p.E343G c.1028A>G 2 74754424 RCCC T C Missense p.Q191R c.572A>G 2 74755569 STAD T C Missense p.Q350R c.1049A>G 2 74754403 ESCA T C Missense p.R398G c.1192A>G 2 74754072 HNSC