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 16 57775658 57775658 + Missense_Mutation SNP C C T TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr16:57775658C>T c.100C>T c.(100-102)Cgg>Tgg p.R34W BLCA 16 57775676 57775676 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr16:57775676G>A c.118G>A c.(118-120)Ggg>Agg p.G40R BLCA 16 57778405 57778405 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr16:57778405G>C c.271G>C c.(271-273)Gac>Cac p.D91H BLCA 16 57786699 57786699 + Silent SNP C C G TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr16:57786699C>G c.714C>G c.(712-714)ctC>ctG p.L238L BLCA 16 57786743 57786743 + Nonsense_Mutation SNP C C G TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr16:57786743C>G c.758C>G c.(757-759)tCa>tGa p.S253* BLCA 16 57786831 57786831 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr16:57786831T>C c.846T>C c.(844-846)aaT>aaC p.N282N BLCA 16 57787344 57787344 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr16:57787344G>A c.1090G>A c.(1090-1092)Gag>Aag p.E364K BLCA 16 57787356 57787356 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr16:57787356G>A c.1102G>A c.(1102-1104)Gac>Aac p.D368N BLCA 16 57789144 57789144 + IGR SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr16:57789144C>T BLCA 16 57789809 57789809 + IGR SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr16:57789809G>C BLCA 16 57789974 57789974 + IGR SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr16:57789974G>A BRCA 16 57775730 57775730 + Splice_Site SNP G G A TCGA-AN-A04D-01A-21W-A050-09 TCGA-AN-A04D-10A-01W-A055-09 g.chr16:57775730G>A c.e3+1 BRCA 16 57786814 57786814 + Missense_Mutation SNP G G A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 g.chr16:57786814G>A c.829G>A c.(829-831)Gac>Aac p.D277N BRCA 16 57789124 57789124 + Missense_Mutation SNP G G C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 g.chr16:57789124G>C c.1390G>C c.(1390-1392)Ggg>Cgg p.G464R BRCA 16 57790846 57790847 + IGR INS - - G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 g.chr16:57790846_57790847insG CESC 16 57778385 57778385 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr16:57778385C>T c.251C>T c.(250-252)tCg>tTg p.S84L CESC 16 57787337 57787337 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr16:57787337C>G c.1083C>G c.(1081-1083)ccC>ccG p.P361P COAD 16 57778419 57778419 + Silent SNP C C A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr16:57778419C>A c.285C>A c.(283-285)gcC>gcA p.A95A COAD 16 57785560 57785560 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:57785560G>A c.440G>A c.(439-441)aGc>aAc p.S147N COAD 16 57789767 57789767 + IGR SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr16:57789767C>T COAD 16 57789769 57789769 + IGR SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:57789769C>A COAD 16 57790279 57790279 + IGR SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr16:57790279C>T COADREAD 16 57778419 57778419 + Silent SNP C C A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr16:57778419C>A c.285C>A c.(283-285)gcC>gcA p.A95A COADREAD 16 57785560 57785560 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:57785560G>A c.440G>A c.(439-441)aGc>aAc p.S147N COADREAD 16 57787863 57787863 + Missense_Mutation SNP C C T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr16:57787863C>T c.1184C>T c.(1183-1185)aCg>aTg p.T395M COADREAD 16 57789767 57789767 + IGR SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr16:57789767C>T COADREAD 16 57789769 57789769 + IGR SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:57789769C>A COADREAD 16 57790279 57790279 + IGR SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr16:57790279C>T ESCA 16 57785554 57785554 + Splice_Site SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr16:57785554G>T c.434G>T c.(433-435)gGg>gTg p.G145V ESCA 16 57789109 57789109 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr16:57789109C>T c.1375C>T c.(1375-1377)Cgg>Tgg p.R459W ESCA 16 57789353 57789353 + IGR SNP C C T TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr16:57789353C>T GBMLGG 16 57787351 57787351 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57787351A>G c.1097A>G c.(1096-1098)gAc>gGc p.D366G GBMLGG 16 57790311 57790311 + IGR SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57790311C>T HNSC 16 57775607 57775607 + Missense_Mutation SNP G G A TCGA-T2-A6X0-01A-11D-A34J-08 TCGA-T2-A6X0-10B-01D-A34M-08 g.chr16:57775607G>A c.49G>A c.(49-51)Gtc>Atc p.V17I HNSC 16 57785854 57785854 + Silent SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 g.chr16:57785854C>G c.519C>G c.(517-519)ctC>ctG p.L173L HNSC 16 57786709 57786709 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr16:57786709G>C c.724G>C c.(724-726)Gac>Cac p.D242H HNSC 16 57786825 57786825 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr16:57786825C>T c.840C>T c.(838-840)atC>atT p.I280I KICH 16 57788846 57788846 + Silent SNP A A G TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr16:57788846A>G c.1233A>G c.(1231-1233)gcA>gcG p.A411A KIPAN 16 57775693 57775693 + Silent SNP C C T TCGA-AK-3456-01A-02D-1386-10 TCGA-AK-3456-10A-01D-1251-10 g.chr16:57775693C>T c.135C>T c.(133-135)gtC>gtT p.V45V KIPAN 16 57785950 57785950 + Silent SNP C C T TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr16:57785950C>T c.615C>T c.(613-615)gcC>gcT p.A205A KIPAN 16 57788846 57788846 + Silent SNP A A G TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr16:57788846A>G c.1233A>G c.(1231-1233)gcA>gcG p.A411A KIRC 16 57775693 57775693 + Silent SNP C C T TCGA-AK-3456-01A-02D-1386-10 TCGA-AK-3456-10A-01D-1251-10 g.chr16:57775693C>T c.135C>T c.(133-135)gtC>gtT p.V45V KIRC 16 57785950 57785950 + Silent SNP C C T TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr16:57785950C>T c.615C>T c.(613-615)gcC>gcT p.A205A LGG 16 57787351 57787351 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57787351A>G c.1097A>G c.(1096-1098)gAc>gGc p.D366G LGG 16 57790311 57790311 + IGR SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57790311C>T LIHC 16 57785926 57785926 + Missense_Mutation SNP T T G TCGA-DD-AACT-01A-11D-A40R-10 TCGA-DD-AACT-10A-01D-A40U-10 g.chr16:57785926T>G c.591T>G c.(589-591)ttT>ttG p.F197L LIHC 16 57788908 57788908 + Splice_Site SNP A A C TCGA-GJ-A9DB-01A-11D-A36X-10 TCGA-GJ-A9DB-10A-01D-A370-10 g.chr16:57788908A>C c.1295A>C c.(1294-1296)aAt>aCt p.N432T LIHC 16 57790767 57790767 + IGR SNP T T G TCGA-DD-AAE4-01A-11D-A40R-10 TCGA-DD-AAE4-10A-01D-A40U-10 g.chr16:57790767T>G LUAD 16 57775655 57775655 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 g.chr16:57775655G>T c.97G>T c.(97-99)Ggg>Tgg p.G33W LUAD 16 57778336 57778336 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr16:57778336A>G c.202A>G c.(202-204)Agc>Ggc p.S68G LUAD 16 57789824 57789824 + IGR SNP G G A TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr16:57789824G>A LUSC 16 57778365 57778365 + Silent SNP C C G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr16:57778365C>G c.231C>G c.(229-231)ctC>ctG p.L77L LUSC 16 57787893 57787893 + Missense_Mutation SNP C C A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr16:57787893C>A c.1214C>A c.(1213-1215)gCa>gAa p.A405E OV 16 57771184 57771184 + Missense_Mutation SNP C C A TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 g.chr16:57771184C>A c.29C>A c.(28-30)gCc>gAc p.A10D OV 16 57787122 57787122 + Missense_Mutation SNP G G A TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 g.chr16:57787122G>A c.989G>A c.(988-990)aGc>aAc p.S330N PAAD 16 57789369 57789369 + IGR SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:57789369A>G PRAD 16 57789088 57789088 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:57789088C>T c.1354C>T c.(1354-1356)Cct>Tct p.P452S READ 16 57787863 57787863 + Missense_Mutation SNP C C T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr16:57787863C>T c.1184C>T c.(1183-1185)aCg>aTg p.T395M SARC 16 57790824 57790824 + IGR SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr16:57790824G>A SKCM 16 57775606 57775606 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr16:57775606C>T c.48C>T c.(46-48)atC>atT p.I16I SKCM 16 57775704 57775704 + Missense_Mutation SNP C C T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr16:57775704C>T c.146C>T c.(145-147)tCc>tTc p.S49F SKCM 16 57775705 57775705 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr16:57775705C>T c.147C>T c.(145-147)tcC>tcT p.S49S SKCM 16 57778395 57778395 + Silent SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr16:57778395C>T c.261C>T c.(259-261)atC>atT p.I87I SKCM 16 57785579 57785579 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr16:57785579C>T c.459C>T c.(457-459)ctC>ctT p.L153L SKCM 16 57785890 57785890 + Silent SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr16:57785890C>T c.555C>T c.(553-555)ttC>ttT p.F185F SKCM 16 57785893 57785893 + Silent SNP T T G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr16:57785893T>G c.558T>G c.(556-558)ccT>ccG p.P186P SKCM 16 57787310 57787310 + Silent SNP G G A TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr16:57787310G>A c.1056G>A c.(1054-1056)caG>caA p.Q352Q SKCM 16 57787354 57787354 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 g.chr16:57787354G>A c.1100G>A c.(1099-1101)cGg>cAg p.R367Q SKCM 16 57787413 57787413 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr16:57787413C>T c.1159C>T c.(1159-1161)Cag>Tag p.Q387* SKCM 16 57789407 57789407 + IGR SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr16:57789407G>A SKCM 16 57790379 57790379 + IGR SNP G G A TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr16:57790379G>A

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 16 57787906 57787906 single base substitution C T downstream_gene_variant BLCA-CN 16 57787906 57787906 single base substitution C T splice_region_variant BLCA-CN 16 57787906 57787906 single base substitution C T upstream_gene_variant BLCA-US 16 57786831 57786831 single base substitution T C downstream_gene_variant BLCA-US 16 57786831 57786831 single base substitution T C exon_variant BLCA-US 16 57786831 57786831 single base substitution T C synonymous_variant N282N 846T>C BLCA-US 16 57786831 57786831 single base substitution T C upstream_gene_variant BLCA-US 16 57787344 57787344 single base substitution G A downstream_gene_variant BLCA-US 16 57787344 57787344 single base substitution G A exon_variant BLCA-US 16 57787344 57787344 single base substitution G A missense_variant E364K 1090G>A BLCA-US 16 57787344 57787344 single base substitution G A upstream_gene_variant BLCA-US 16 57787356 57787356 single base substitution G A downstream_gene_variant BLCA-US 16 57787356 57787356 single base substitution G A exon_variant BLCA-US 16 57787356 57787356 single base substitution G A missense_variant D368N 1102G>A BLCA-US 16 57787356 57787356 single base substitution G A upstream_gene_variant BLCA-US 16 57789144 57789144 single base substitution C T downstream_gene_variant BLCA-US 16 57789144 57789144 single base substitution C T exon_variant BLCA-US 16 57789144 57789144 single base substitution C T synonymous_variant F470F 1410C>T BLCA-US 16 57789144 57789144 single base substitution C T synonymous_variant F98F 294C>T BLCA-US 16 57789144 57789144 single base substitution C T upstream_gene_variant BLCA-US 16 57789809 57789809 single base substitution G C downstream_gene_variant BLCA-US 16 57789809 57789809 single base substitution G C exon_variant BLCA-US 16 57789809 57789809 single base substitution G C synonymous_variant L186L 558G>C BLCA-US 16 57789809 57789809 single base substitution G C synonymous_variant L541L 1623G>C BRCA-EU 16 57767685 57767685 single base substitution G A upstream_gene_variant BRCA-EU 16 57768085 57768085 single base substitution G T upstream_gene_variant BRCA-EU 16 57768621 57768621 single base substitution T C upstream_gene_variant BRCA-EU 16 57769401 57769401 single base substitution A C upstream_gene_variant BRCA-EU 16 57769603 57769603 single base substitution A G upstream_gene_variant BRCA-EU 16 57770340 57770340 single base substitution C T intron_variant BRCA-EU 16 57770340 57770340 single base substitution C T upstream_gene_variant BRCA-EU 16 57771053 57771099 deletion of <=200bp CTGCCAACTTGATTGGTGGATCTGGGGGGGGATCCACCCCCACCCCA - 5_prime_UTR_variant BRCA-EU 16 57771053 57771099 deletion of <=200bp CTGCCAACTTGATTGGTGGATCTGGGGGGGGATCCACCCCCACCCCA - exon_variant BRCA-EU 16 57771053 57771099 deletion of <=200bp CTGCCAACTTGATTGGTGGATCTGGGGGGGGATCCACCCCCACCCCA - intron_variant BRCA-EU 16 57771053 57771099 deletion of <=200bp CTGCCAACTTGATTGGTGGATCTGGGGGGGGATCCACCCCCACCCCA - upstream_gene_variant BRCA-EU 16 57773504 57773504 single base substitution C T intron_variant BRCA-EU 16 57774453 57774453 single base substitution C T intron_variant BRCA-EU 16 57774609 57774609 single base substitution G T intron_variant BRCA-EU 16 57774793 57774793 single base substitution C G intron_variant BRCA-EU 16 57775252 57775252 single base substitution A G intron_variant BRCA-EU 16 57775286 57775286 single base substitution C G intron_variant BRCA-EU 16 57776582 57776582 single base substitution G C intron_variant BRCA-EU 16 57777659 57777659 single base substitution T C intron_variant BRCA-EU 16 57778347 57778347 single base substitution C T exon_variant BRCA-EU 16 57778347 57778347 single base substitution C T synonymous_variant L71L 213C>T BRCA-EU 16 57778347 57778347 single base substitution C T synonymous_variant L75L 225C>T BRCA-EU 16 57782187 57782187 single base substitution A T downstream_gene_variant BRCA-EU 16 57782187 57782187 single base substitution A T intron_variant BRCA-EU 16 57783503 57783503 single base substitution A G intron_variant BRCA-EU 16 57783503 57783503 single base substitution A G upstream_gene_variant BRCA-EU 16 57784594 57784594 single base substitution C A intron_variant BRCA-EU 16 57784594 57784594 single base substitution C A upstream_gene_variant BRCA-EU 16 57784907 57784907 single base substitution C G intron_variant BRCA-EU 16 57784907 57784907 single base substitution C G upstream_gene_variant BRCA-EU 16 57789123 57789123 single base substitution C T downstream_gene_variant BRCA-EU 16 57789123 57789123 single base substitution C T exon_variant BRCA-EU 16 57789123 57789123 single base substitution C T synonymous_variant I463I 1389C>T BRCA-EU 16 57789123 57789123 single base substitution C T synonymous_variant I91I 273C>T BRCA-EU 16 57789123 57789123 single base substitution C T upstream_gene_variant BRCA-EU 16 57791485 57791485 single base substitution G T downstream_gene_variant BRCA-EU 16 57791778 57791778 single base substitution G A downstream_gene_variant BRCA-EU 16 57792868 57792868 single base substitution C T downstream_gene_variant BRCA-EU 16 57792935 57792935 single base substitution G C downstream_gene_variant BRCA-EU 16 57793201 57793201 single base substitution G A downstream_gene_variant BRCA-EU 16 57795032 57795032 single base substitution C G downstream_gene_variant BRCA-EU 16 57795036 57795036 single base substitution C T downstream_gene_variant BRCA-EU 16 57795853 57795853 single base substitution C G downstream_gene_variant BRCA-FR 16 57768085 57768085 single base substitution G T upstream_gene_variant BRCA-FR 16 57769401 57769401 single base substitution A C upstream_gene_variant BRCA-FR 16 57770002 57770002 single base substitution C T exon_variant BRCA-FR 16 57770002 57770002 single base substitution C T intron_variant BRCA-FR 16 57770002 57770002 single base substitution C T upstream_gene_variant BRCA-FR 16 57789010 57789010 single base substitution C T downstream_gene_variant BRCA-FR 16 57789010 57789010 single base substitution C T intron_variant BRCA-FR 16 57789010 57789010 single base substitution C T upstream_gene_variant BRCA-FR 16 57795036 57795036 single base substitution C T downstream_gene_variant BRCA-KR 16 57789815 57789815 single base substitution C T downstream_gene_variant BRCA-KR 16 57789815 57789815 single base substitution C T exon_variant BRCA-KR 16 57789815 57789815 single base substitution C T synonymous_variant I188I 564C>T BRCA-KR 16 57789815 57789815 single base substitution C T synonymous_variant I543I 1629C>T BRCA-KR 16 57792511 57792511 single base substitution G A downstream_gene_variant BRCA-US 16 57775730 57775730 single base substitution G A splice_donor_variant BRCA-US 16 57786814 57786814 single base substitution G A downstream_gene_variant BRCA-US 16 57786814 57786814 single base substitution G A exon_variant BRCA-US 16 57786814 57786814 single base substitution G A missense_variant D277N 829G>A BRCA-US 16 57786814 57786814 single base substitution G A upstream_gene_variant BRCA-US 16 57789124 57789124 single base substitution G C downstream_gene_variant BRCA-US 16 57789124 57789124 single base substitution G C exon_variant BRCA-US 16 57789124 57789124 single base substitution G C missense_variant G464R 1390G>C BRCA-US 16 57789124 57789124 single base substitution G C missense_variant G92R 274G>C BRCA-US 16 57789124 57789124 single base substitution G C upstream_gene_variant BRCA-US 16 57790846 57790846 insertion of <=200bp - G downstream_gene_variant BRCA-US 16 57790846 57790846 insertion of <=200bp - G frameshift_variant A652A? BRCA-US 16 57794238 57794238 single base substitution G A downstream_gene_variant BRCA-US 16 57794309 57794311 deletion of <=200bp TTC - downstream_gene_variant BRCA-US 16 57795058 57795058 single base substitution C T downstream_gene_variant BTCA-JP 16 57770813 57770813 single base substitution T C intron_variant BTCA-JP 16 57770813 57770813 single base substitution T C upstream_gene_variant BTCA-JP 16 57778488 57778488 single base substitution A G downstream_gene_variant BTCA-JP 16 57778488 57778488 single base substitution A G intron_variant BTCA-JP 16 57785849 57785849 single base substitution C T downstream_gene_variant BTCA-JP 16 57785849 57785849 single base substitution C T intron_variant BTCA-JP 16 57785849 57785849 single base substitution C T splice_region_variant BTCA-JP 16 57785849 57785849 single base substitution C T upstream_gene_variant BTCA-JP 16 57786739 57786739 single base substitution G A downstream_gene_variant BTCA-JP 16 57786739 57786739 single base substitution G A exon_variant BTCA-JP 16 57786739 57786739 single base substitution G A missense_variant D252N 754G>A BTCA-JP 16 57786739 57786739 single base substitution G A upstream_gene_variant BTCA-JP 16 57787373 57787373 single base substitution C T downstream_gene_variant BTCA-JP 16 57787373 57787373 single base substitution C T exon_variant BTCA-JP 16 57787373 57787373 single base substitution C T synonymous_variant R1R 3C>T BTCA-JP 16 57787373 57787373 single base substitution C T synonymous_variant R373R 1119C>T BTCA-JP 16 57787373 57787373 single base substitution C T upstream_gene_variant BTCA-JP 16 57789314 57789314 single base substitution C T downstream_gene_variant BTCA-JP 16 57789314 57789314 single base substitution C T exon_variant BTCA-JP 16 57789314 57789314 single base substitution C T missense_variant R120C 358C>T BTCA-JP 16 57789314 57789314 single base substitution C T missense_variant R492C 1474C>T BTCA-JP 16 57789314 57789314 single base substitution C T upstream_gene_variant BTCA-JP 16 57789322 57789322 single base substitution C T downstream_gene_variant BTCA-JP 16 57789322 57789322 single base substitution C T exon_variant BTCA-JP 16 57789322 57789322 single base substitution C T synonymous_variant G122G 366C>T BTCA-JP 16 57789322 57789322 single base substitution C T synonymous_variant G494G 1482C>T BTCA-JP 16 57789322 57789322 single base substitution C T upstream_gene_variant BTCA-JP 16 57789783 57789783 single base substitution G A downstream_gene_variant BTCA-JP 16 57789783 57789783 single base substitution G A exon_variant BTCA-JP 16 57789783 57789783 single base substitution G A missense_variant D178N 532G>A BTCA-JP 16 57789783 57789783 single base substitution G A missense_variant D533N 1597G>A BTCA-JP 16 57794736 57794736 single base substitution G A downstream_gene_variant CESC-US 16 57778385 57778385 single base substitution C T downstream_gene_variant CESC-US 16 57778385 57778385 single base substitution C T exon_variant CESC-US 16 57778385 57778385 single base substitution C T missense_variant S84L 251C>T CESC-US 16 57778385 57778385 single base substitution C T missense_variant S88L 263C>T CESC-US 16 57787337 57787337 single base substitution C G downstream_gene_variant CESC-US 16 57787337 57787337 single base substitution C G exon_variant CESC-US 16 57787337 57787337 single base substitution C G synonymous_variant P361P 1083C>G CESC-US 16 57787337 57787337 single base substitution C G upstream_gene_variant CESC-US 16 57795349 57795349 single base substitution C A downstream_gene_variant CLLE-ES 16 57771081 57771081 single base substitution G A 5_prime_UTR_variant CLLE-ES 16 57771081 57771081 single base substitution G A exon_variant CLLE-ES 16 57771081 57771081 single base substitution G A intron_variant CLLE-ES 16 57771081 57771081 single base substitution G A upstream_gene_variant CLLE-ES 16 57778686 57778687 deletion of <=200bp CA - downstream_gene_variant CLLE-ES 16 57778686 57778687 deletion of <=200bp CA - intron_variant COAD-US 16 57785560 57785560 single base substitution G A exon_variant COAD-US 16 57785560 57785560 single base substitution G A missense_variant S147N 440G>A COAD-US 16 57785560 57785560 single base substitution G A missense_variant S151N 452G>A COAD-US 16 57785560 57785560 single base substitution G A synonymous_variant Q113Q 339G>A COAD-US 16 57785560 57785560 single base substitution G A upstream_gene_variant COAD-US 16 57789767 57789767 single base substitution C T downstream_gene_variant COAD-US 16 57789767 57789767 single base substitution C T exon_variant COAD-US 16 57789767 57789767 single base substitution C T synonymous_variant S172S 516C>T COAD-US 16 57789767 57789767 single base substitution C T synonymous_variant S527S 1581C>T COAD-US 16 57789769 57789769 single base substitution C A downstream_gene_variant COAD-US 16 57789769 57789769 single base substitution C A exon_variant COAD-US 16 57789769 57789769 single base substitution C A missense_variant A173D 518C>A COAD-US 16 57789769 57789769 single base substitution C A missense_variant A528D 1583C>A COAD-US 16 57790279 57790279 single base substitution C T downstream_gene_variant COAD-US 16 57790279 57790279 single base substitution C T exon_variant COAD-US 16 57790279 57790279 single base substitution C T missense_variant T222M 665C>T COAD-US 16 57790279 57790279 single base substitution C T missense_variant T577M 1730C>T COAD-US 16 57794238 57794238 single base substitution G A downstream_gene_variant COAD-US 16 57794832 57794832 single base substitution G A downstream_gene_variant COAD-US 16 57794971 57794971 single base substitution G C downstream_gene_variant COAD-US 16 57795395 57795395 single base substitution T G downstream_gene_variant COCA-CN 16 57786250 57786250 single base substitution G A downstream_gene_variant COCA-CN 16 57786250 57786250 single base substitution G A exon_variant COCA-CN 16 57786250 57786250 single base substitution G A intron_variant COCA-CN 16 57786250 57786250 single base substitution G A upstream_gene_variant COCA-CN 16 57787519 57787519 single base substitution G A downstream_gene_variant COCA-CN 16 57787519 57787519 single base substitution G A intron_variant COCA-CN 16 57787519 57787519 single base substitution G A upstream_gene_variant COCA-CN 16 57789315 57789315 single base substitution G A downstream_gene_variant COCA-CN 16 57789315 57789315 single base substitution G A exon_variant COCA-CN 16 57789315 57789315 single base substitution G A missense_variant R120H 359G>A COCA-CN 16 57789315 57789315 single base substitution G A missense_variant R492H 1475G>A COCA-CN 16 57789315 57789315 single base substitution G A upstream_gene_variant COCA-CN 16 57789325 57789325 single base substitution C T downstream_gene_variant COCA-CN 16 57789325 57789325 single base substitution C T exon_variant COCA-CN 16 57789325 57789325 single base substitution C T synonymous_variant H123H 369C>T COCA-CN 16 57789325 57789325 single base substitution C T synonymous_variant H495H 1485C>T COCA-CN 16 57789325 57789325 single base substitution C T upstream_gene_variant COCA-CN 16 57789883 57789883 single base substitution G T downstream_gene_variant COCA-CN 16 57789883 57789883 single base substitution G T exon_variant COCA-CN 16 57789883 57789883 single base substitution G T intron_variant COCA-CN 16 57792719 57792719 single base substitution T C downstream_gene_variant COCA-CN 16 57792783 57792783 single base substitution G A downstream_gene_variant COCA-CN 16 57793729 57793729 single base substitution G A downstream_gene_variant COCA-CN 16 57795103 57795103 single base substitution G T downstream_gene_variant COCA-CN 16 57795236 57795236 single base substitution C T downstream_gene_variant ESAD-UK 16 57769985 57769985 single base substitution A C exon_variant ESAD-UK 16 57769985 57769985 single base substitution A C intron_variant ESAD-UK 16 57769985 57769985 single base substitution A C upstream_gene_variant ESAD-UK 16 57772317 57772317 single base substitution G A intron_variant ESAD-UK 16 57773844 57773844 single base substitution C T intron_variant ESAD-UK 16 57774622 57774622 single base substitution G T intron_variant ESAD-UK 16 57778221 57778221 single base substitution A G intron_variant ESAD-UK 16 57780693 57780693 single base substitution C A downstream_gene_variant ESAD-UK 16 57780693 57780693 single base substitution C A intron_variant ESAD-UK 16 57780832 57780832 single base substitution C T downstream_gene_variant ESAD-UK 16 57780832 57780832 single base substitution C T intron_variant ESAD-UK 16 57782772 57782772 single base substitution C A downstream_gene_variant ESAD-UK 16 57782772 57782772 single base substitution C A intron_variant ESAD-UK 16 57782772 57782772 single base substitution C A upstream_gene_variant ESAD-UK 16 57783045 57783045 single base substitution C T downstream_gene_variant ESAD-UK 16 57783045 57783045 single base substitution C T intron_variant ESAD-UK 16 57783045 57783045 single base substitution C T upstream_gene_variant ESAD-UK 16 57788481 57788481 single base substitution C T downstream_gene_variant ESAD-UK 16 57788481 57788481 single base substitution C T intron_variant ESAD-UK 16 57788481 57788481 single base substitution C T upstream_gene_variant ESAD-UK 16 57789880 57789880 single base substitution G C downstream_gene_variant ESAD-UK 16 57789880 57789880 single base substitution G C exon_variant ESAD-UK 16 57789880 57789880 single base substitution G C intron_variant ESAD-UK 16 57790188 57790190 deletion of <=200bp CTC - downstream_gene_variant ESAD-UK 16 57790188 57790190 deletion of <=200bp CTC - exon_variant ESAD-UK 16 57790188 57790190 deletion of <=200bp CTC - intron_variant ESAD-UK 16 57791335 57791335 single base substitution C T downstream_gene_variant ESAD-UK 16 57792737 57792737 single base substitution C T downstream_gene_variant ESAD-UK 16 57793168 57793168 single base substitution C T downstream_gene_variant ESCA-CN 16 57785954 57785954 single base substitution G A downstream_gene_variant ESCA-CN 16 57785954 57785954 single base substitution G A exon_variant ESCA-CN 16 57785954 57785954 single base substitution G A missense_variant G207S 619G>A ESCA-CN 16 57785954 57785954 single base substitution G A upstream_gene_variant GBM-US 16 57794781 57794781 single base substitution T C downstream_gene_variant KIRC-US 16 57775693 57775693 single base substitution C T exon_variant KIRC-US 16 57775693 57775693 single base substitution C T synonymous_variant V45V 135C>T KIRC-US 16 57775693 57775693 single base substitution C T synonymous_variant V49V 147C>T KIRC-US 16 57785950 57785950 single base substitution C T downstream_gene_variant KIRC-US 16 57785950 57785950 single base substitution C T exon_variant KIRC-US 16 57785950 57785950 single base substitution C T synonymous_variant A205A 615C>T KIRC-US 16 57785950 57785950 single base substitution C T upstream_gene_variant LAML-KR 16 57778488 57778488 single base substitution A G downstream_gene_variant LAML-KR 16 57778488 57778488 single base substitution A G intron_variant LAML-KR 16 57787027 57787027 single base substitution C T downstream_gene_variant LAML-KR 16 57787027 57787027 single base substitution C T exon_variant LAML-KR 16 57787027 57787027 single base substitution C T synonymous_variant Y298Y 894C>T LAML-KR 16 57787027 57787027 single base substitution C T upstream_gene_variant LAML-KR 16 57789150 57789150 single base substitution C T downstream_gene_variant LAML-KR 16 57789150 57789150 single base substitution C T splice_region_variant LAML-KR 16 57789150 57789150 single base substitution C T upstream_gene_variant LAML-KR 16 57789719 57789719 single base substitution C A downstream_gene_variant LAML-KR 16 57789719 57789719 single base substitution C A exon_variant LAML-KR 16 57789719 57789719 single base substitution C A intron_variant LAML-KR 16 57789719 57789719 single base substitution C A missense_variant H156Q 468C>A LICA-FR 16 57776159 57776159 single base substitution A G intron_variant LICA-FR 16 57782177 57782177 single base substitution C T downstream_gene_variant LICA-FR 16 57782177 57782177 single base substitution C T intron_variant LICA-FR 16 57785571 57785571 single base substitution C T exon_variant LICA-FR 16 57785571 57785571 single base substitution C T missense_variant A117V 350C>T LICA-FR 16 57785571 57785571 single base substitution C T missense_variant R151W 451C>T LICA-FR 16 57785571 57785571 single base substitution C T missense_variant R155W 463C>T LICA-FR 16 57785571 57785571 single base substitution C T upstream_gene_variant LICA-FR 16 57787148 57787148 single base substitution C T downstream_gene_variant LICA-FR 16 57787148 57787148 single base substitution C T exon_variant LICA-FR 16 57787148 57787148 single base substitution C T missense_variant R339W 1015C>T LICA-FR 16 57787148 57787148 single base substitution C T upstream_gene_variant LINC-JP 16 57768464 57768464 single base substitution G A upstream_gene_variant LINC-JP 16 57781837 57781837 single base substitution C T downstream_gene_variant LINC-JP 16 57781837 57781837 single base substitution C T intron_variant LINC-JP 16 57792853 57792860 deletion of <=200bp CCACTTGC - downstream_gene_variant LIRI-JP 16 57765735 57765735 single base substitution C T upstream_gene_variant LIRI-JP 16 57767616 57767616 single base substitution T C upstream_gene_variant LIRI-JP 16 57777043 57777043 single base substitution A G intron_variant LIRI-JP 16 57778115 57778115 single base substitution C T intron_variant LIRI-JP 16 57785915 57785915 single base substitution G A downstream_gene_variant LIRI-JP 16 57785915 57785915 single base substitution G A exon_variant LIRI-JP 16 57785915 57785915 single base substitution G A missense_variant V194M 580G>A LIRI-JP 16 57785915 57785915 single base substitution G A missense_variant V198M 592G>A LIRI-JP 16 57785915 57785915 single base substitution G A upstream_gene_variant LIRI-JP 16 57787696 57787696 single base substitution G T downstream_gene_variant LIRI-JP 16 57787696 57787696 single base substitution G T intron_variant LIRI-JP 16 57787696 57787696 single base substitution G T upstream_gene_variant LIRI-JP 16 57789375 57789375 single base substitution T C downstream_gene_variant LIRI-JP 16 57789375 57789375 single base substitution T C exon_variant LIRI-JP 16 57789375 57789375 single base substitution T C missense_variant V140A 419T>C LIRI-JP 16 57789375 57789375 single base substitution T C missense_variant V512A 1535T>C LUSC-KR 16 57766138 57766138 single base substitution A G upstream_gene_variant LUSC-KR 16 57768119 57768119 single base substitution C T upstream_gene_variant LUSC-KR 16 57768302 57768302 single base substitution C T upstream_gene_variant LUSC-KR 16 57768725 57768725 single base substitution G A upstream_gene_variant LUSC-KR 16 57769545 57769545 single base substitution T C upstream_gene_variant LUSC-KR 16 57769744 57769744 single base substitution C A 5_prime_UTR_variant LUSC-KR 16 57769744 57769744 single base substitution C A upstream_gene_variant LUSC-KR 16 57778198 57778198 single base substitution C T intron_variant LUSC-KR 16 57783805 57783805 single base substitution C G intron_variant LUSC-KR 16 57783805 57783805 single base substitution C G upstream_gene_variant LUSC-KR 16 57788235 57788235 single base substitution G A downstream_gene_variant LUSC-KR 16 57788235 57788235 single base substitution G A intron_variant LUSC-KR 16 57788235 57788235 single base substitution G A upstream_gene_variant LUSC-US 16 57778365 57778365 single base substitution C G exon_variant LUSC-US 16 57778365 57778365 single base substitution C G synonymous_variant L77L 231C>G LUSC-US 16 57778365 57778365 single base substitution C G synonymous_variant L81L 243C>G LUSC-US 16 57787893 57787893 single base substitution C A downstream_gene_variant LUSC-US 16 57787893 57787893 single base substitution C A exon_variant LUSC-US 16 57787893 57787893 single base substitution C A missense_variant A33E 98C>A LUSC-US 16 57787893 57787893 single base substitution C A missense_variant A405E 1214C>A LUSC-US 16 57787893 57787893 single base substitution C A upstream_gene_variant MALY-DE 16 57766282 57766282 single base substitution C T upstream_gene_variant MALY-DE 16 57766496 57766496 single base substitution C T upstream_gene_variant MALY-DE 16 57767617 57767617 single base substitution G A upstream_gene_variant MALY-DE 16 57771652 57771652 single base substitution A T intron_variant MALY-DE 16 57782852 57782852 single base substitution C T downstream_gene_variant MALY-DE 16 57782852 57782852 single base substitution C T intron_variant MALY-DE 16 57782852 57782852 single base substitution C T upstream_gene_variant MALY-DE 16 57793212 57793212 single base substitution C T downstream_gene_variant MELA-AU 16 57764963 57764963 single base substitution C T upstream_gene_variant MELA-AU 16 57765234 57765234 single base substitution C T upstream_gene_variant MELA-AU 16 57765350 57765350 single base substitution C T upstream_gene_variant MELA-AU 16 57765433 57765433 single base substitution G A upstream_gene_variant MELA-AU 16 57765676 57765676 single base substitution G A upstream_gene_variant MELA-AU 16 57765787 57765787 single base substitution G A upstream_gene_variant MELA-AU 16 57766005 57766005 single base substitution G A upstream_gene_variant MELA-AU 16 57766478 57766478 single base substitution G A upstream_gene_variant MELA-AU 16 57766766 57766766 single base substitution G A upstream_gene_variant MELA-AU 16 57767173 57767173 single base substitution G A upstream_gene_variant MELA-AU 16 57767266 57767266 single base substitution G A upstream_gene_variant MELA-AU 16 57767555 57767555 single base substitution C T upstream_gene_variant MELA-AU 16 57767685 57767685 single base substitution G A upstream_gene_variant MELA-AU 16 57767756 57767756 single base substitution G A upstream_gene_variant MELA-AU 16 57767840 57767840 single base substitution C T upstream_gene_variant MELA-AU 16 57767846 57767846 single base substitution C T upstream_gene_variant MELA-AU 16 57767848 57767848 single base substitution C T upstream_gene_variant MELA-AU 16 57767978 57767978 single base substitution C T upstream_gene_variant MELA-AU 16 57769294 57769294 single base substitution A G upstream_gene_variant MELA-AU 16 57769294 57769295 multiple base substitution (>=2bp and <=200bp) AA GT upstream_gene_variant MELA-AU 16 57769324 57769325 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 57769403 57769403 single base substitution G A upstream_gene_variant MELA-AU 16 57769418 57769418 single base substitution G A upstream_gene_variant MELA-AU 16 57769419 57769419 single base substitution G A upstream_gene_variant MELA-AU 16 57769420 57769420 single base substitution G A upstream_gene_variant MELA-AU 16 57769430 57769430 single base substitution G A upstream_gene_variant MELA-AU 16 57769448 57769448 single base substitution G A upstream_gene_variant MELA-AU 16 57769484 57769484 single base substitution G A upstream_gene_variant MELA-AU 16 57769528 57769528 single base substitution G A upstream_gene_variant MELA-AU 16 57769549 57769549 single base substitution G A upstream_gene_variant MELA-AU 16 57769560 57769560 single base substitution G A upstream_gene_variant MELA-AU 16 57769563 57769563 single base substitution G A upstream_gene_variant MELA-AU 16 57769589 57769589 single base substitution G A upstream_gene_variant MELA-AU 16 57769593 57769593 single base substitution G A upstream_gene_variant MELA-AU 16 57769627 57769627 single base substitution G A upstream_gene_variant MELA-AU 16 57769635 57769635 single base substitution G A upstream_gene_variant MELA-AU 16 57769643 57769643 single base substitution G A 5_prime_UTR_variant MELA-AU 16 57769643 57769643 single base substitution G A upstream_gene_variant MELA-AU 16 57770265 57770265 single base substitution G A intron_variant MELA-AU 16 57770265 57770265 single base substitution G A upstream_gene_variant MELA-AU 16 57772002 57772002 single base substitution C T intron_variant MELA-AU 16 57772409 57772409 single base substitution C T intron_variant MELA-AU 16 57772703 57772704 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 57772801 57772801 single base substitution G A intron_variant MELA-AU 16 57772807 57772807 single base substitution C T intron_variant MELA-AU 16 57773731 57773731 single base substitution C T intron_variant MELA-AU 16 57773991 57773992 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 57774183 57774183 single base substitution T G intron_variant MELA-AU 16 57774523 57774523 single base substitution C T intron_variant MELA-AU 16 57774731 57774731 single base substitution C T intron_variant MELA-AU 16 57775012 57775012 single base substitution C T intron_variant MELA-AU 16 57775322 57775322 single base substitution C T intron_variant MELA-AU 16 57775679 57775679 single base substitution G A exon_variant MELA-AU 16 57775679 57775679 single base substitution G A missense_variant D41N 121G>A MELA-AU 16 57775679 57775679 single base substitution G A missense_variant D45N 133G>A MELA-AU 16 57775825 57775825 single base substitution C T intron_variant MELA-AU 16 57776358 57776358 single base substitution C T intron_variant MELA-AU 16 57776707 57776708 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 57776827 57776827 single base substitution G A intron_variant MELA-AU 16 57777255 57777255 single base substitution T C intron_variant MELA-AU 16 57778108 57778108 single base substitution C T intron_variant MELA-AU 16 57778751 57778751 single base substitution C T downstream_gene_variant MELA-AU 16 57778751 57778751 single base substitution C T intron_variant MELA-AU 16 57778852 57778852 single base substitution C T downstream_gene_variant MELA-AU 16 57778852 57778852 single base substitution C T intron_variant MELA-AU 16 57780129 57780129 single base substitution C T downstream_gene_variant MELA-AU 16 57780129 57780129 single base substitution C T intron_variant MELA-AU 16 57780159 57780159 single base substitution C T downstream_gene_variant MELA-AU 16 57780159 57780159 single base substitution C T intron_variant MELA-AU 16 57781891 57781891 single base substitution C T downstream_gene_variant MELA-AU 16 57781891 57781891 single base substitution C T intron_variant MELA-AU 16 57781963 57781963 single base substitution C T downstream_gene_variant MELA-AU 16 57781963 57781963 single base substitution C T intron_variant MELA-AU 16 57782077 57782077 single base substitution G A downstream_gene_variant MELA-AU 16 57782077 57782077 single base substitution G A intron_variant MELA-AU 16 57783802 57783802 single base substitution C T intron_variant MELA-AU 16 57783802 57783802 single base substitution C T upstream_gene_variant MELA-AU 16 57783887 57783887 single base substitution C T intron_variant MELA-AU 16 57783887 57783887 single base substitution C T upstream_gene_variant MELA-AU 16 57783946 57783946 single base substitution C T intron_variant MELA-AU 16 57783946 57783946 single base substitution C T upstream_gene_variant MELA-AU 16 57784029 57784029 single base substitution C T intron_variant MELA-AU 16 57784029 57784029 single base substitution C T upstream_gene_variant MELA-AU 16 57784562 57784562 single base substitution C T intron_variant MELA-AU 16 57784562 57784562 single base substitution C T upstream_gene_variant MELA-AU 16 57785286 57785286 single base substitution C T intron_variant MELA-AU 16 57785286 57785286 single base substitution C T upstream_gene_variant MELA-AU 16 57785530 57785530 single base substitution G A intron_variant MELA-AU 16 57785530 57785530 single base substitution G A upstream_gene_variant MELA-AU 16 57785836 57785837 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 57785836 57785837 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 57785836 57785837 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 57785893 57785893 single base substitution T G downstream_gene_variant MELA-AU 16 57785893 57785893 single base substitution T G exon_variant MELA-AU 16 57785893 57785893 single base substitution T G synonymous_variant P186P 558T>G MELA-AU 16 57785893 57785893 single base substitution T G synonymous_variant P190P 570T>G MELA-AU 16 57785893 57785893 single base substitution T G upstream_gene_variant MELA-AU 16 57785936 57785936 single base substitution G A downstream_gene_variant MELA-AU 16 57785936 57785936 single base substitution G A exon_variant MELA-AU 16 57785936 57785936 single base substitution G A missense_variant E201K 601G>A MELA-AU 16 57785936 57785936 single base substitution G A missense_variant E205K 613G>A MELA-AU 16 57785936 57785936 single base substitution G A upstream_gene_variant MELA-AU 16 57785979 57785979 single base substitution G A downstream_gene_variant MELA-AU 16 57785979 57785979 single base substitution G A exon_variant MELA-AU 16 57785979 57785979 single base substitution G A intron_variant MELA-AU 16 57785979 57785979 single base substitution G A upstream_gene_variant MELA-AU 16 57786153 57786153 single base substitution C T downstream_gene_variant MELA-AU 16 57786153 57786153 single base substitution C T exon_variant MELA-AU 16 57786153 57786153 single base substitution C T intron_variant MELA-AU 16 57786153 57786153 single base substitution C T upstream_gene_variant MELA-AU 16 57786216 57786216 single base substitution G A downstream_gene_variant MELA-AU 16 57786216 57786216 single base substitution G A exon_variant MELA-AU 16 57786216 57786216 single base substitution G A intron_variant MELA-AU 16 57786216 57786216 single base substitution G A upstream_gene_variant MELA-AU 16 57786470 57786470 single base substitution T C downstream_gene_variant MELA-AU 16 57786470 57786470 single base substitution T C exon_variant MELA-AU 16 57786470 57786470 single base substitution T C missense_variant F221L 661T>C MELA-AU 16 57786470 57786470 single base substitution T C upstream_gene_variant MELA-AU 16 57787310 57787310 single base substitution G A downstream_gene_variant MELA-AU 16 57787310 57787310 single base substitution G A exon_variant MELA-AU 16 57787310 57787310 single base substitution G A synonymous_variant Q352Q 1056G>A MELA-AU 16 57787310 57787310 single base substitution G A upstream_gene_variant MELA-AU 16 57787464 57787464 single base substitution C T downstream_gene_variant MELA-AU 16 57787464 57787464 single base substitution C T intron_variant MELA-AU 16 57787464 57787464 single base substitution C T upstream_gene_variant MELA-AU 16 57787543 57787543 single base substitution C T downstream_gene_variant MELA-AU 16 57787543 57787543 single base substitution C T intron_variant MELA-AU 16 57787543 57787543 single base substitution C T upstream_gene_variant MELA-AU 16 57787577 57787577 single base substitution C T downstream_gene_variant MELA-AU 16 57787577 57787577 single base substitution C T intron_variant MELA-AU 16 57787577 57787577 single base substitution C T upstream_gene_variant MELA-AU 16 57788011 57788011 single base substitution C T downstream_gene_variant MELA-AU 16 57788011 57788011 single base substitution C T intron_variant MELA-AU 16 57788011 57788011 single base substitution C T upstream_gene_variant MELA-AU 16 57788182 57788182 single base substitution G A downstream_gene_variant MELA-AU 16 57788182 57788182 single base substitution G A intron_variant MELA-AU 16 57788182 57788182 single base substitution G A upstream_gene_variant MELA-AU 16 57788348 57788348 single base substitution G A downstream_gene_variant MELA-AU 16 57788348 57788348 single base substitution G A intron_variant MELA-AU 16 57788348 57788348 single base substitution G A upstream_gene_variant MELA-AU 16 57788924 57788924 single base substitution G A downstream_gene_variant MELA-AU 16 57788924 57788924 single base substitution G A intron_variant MELA-AU 16 57788924 57788924 single base substitution G A upstream_gene_variant MELA-AU 16 57789467 57789467 single base substitution C T downstream_gene_variant MELA-AU 16 57789467 57789467 single base substitution C T intron_variant MELA-AU 16 57789807 57789807 single base substitution C T downstream_gene_variant MELA-AU 16 57789807 57789807 single base substitution C T exon_variant MELA-AU 16 57789807 57789807 single base substitution C T synonymous_variant L186L 556C>T MELA-AU 16 57789807 57789807 single base substitution C T synonymous_variant L541L 1621C>T MELA-AU 16 57790379 57790379 single base substitution G A downstream_gene_variant MELA-AU 16 57790379 57790379 single base substitution G A exon_variant MELA-AU 16 57790379 57790379 single base substitution G A synonymous_variant E255E 765G>A MELA-AU 16 57790379 57790379 single base substitution G A synonymous_variant E610E 1830G>A MELA-AU 16 57790947 57790947 single base substitution C T 3_prime_UTR_variant MELA-AU 16 57790947 57790947 single base substitution C T downstream_gene_variant MELA-AU 16 57791080 57791080 single base substitution C T 3_prime_UTR_variant MELA-AU 16 57791080 57791080 single base substitution C T downstream_gene_variant MELA-AU 16 57791279 57791279 single base substitution C A downstream_gene_variant MELA-AU 16 57791323 57791323 single base substitution G A downstream_gene_variant MELA-AU 16 57791467 57791467 single base substitution G A downstream_gene_variant MELA-AU 16 57791569 57791569 single base substitution G A downstream_gene_variant MELA-AU 16 57791869 57791869 single base substitution G A downstream_gene_variant MELA-AU 16 57792727 57792727 single base substitution G A downstream_gene_variant MELA-AU 16 57792785 57792785 single base substitution G A downstream_gene_variant MELA-AU 16 57792834 57792834 single base substitution G A downstream_gene_variant MELA-AU 16 57792900 57792900 single base substitution G A downstream_gene_variant MELA-AU 16 57792953 57792953 single base substitution G A downstream_gene_variant MELA-AU 16 57793042 57793042 single base substitution G C downstream_gene_variant MELA-AU 16 57793303 57793303 single base substitution G A downstream_gene_variant MELA-AU 16 57793391 57793392 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 57793672 57793672 single base substitution G A downstream_gene_variant MELA-AU 16 57793862 57793862 single base substitution C T downstream_gene_variant MELA-AU 16 57794159 57794159 single base substitution G A downstream_gene_variant MELA-AU 16 57794431 57794431 single base substitution G A downstream_gene_variant MELA-AU 16 57794744 57794744 single base substitution G A downstream_gene_variant MELA-AU 16 57795183 57795183 single base substitution G C downstream_gene_variant MELA-AU 16 57795801 57795801 single base substitution C T downstream_gene_variant ORCA-IN 16 57767790 57767790 single base substitution C T upstream_gene_variant ORCA-IN 16 57771723 57771723 single base substitution G A intron_variant ORCA-IN 16 57778343 57778343 single base substitution G A exon_variant ORCA-IN 16 57778343 57778343 single base substitution G A missense_variant R70H 209G>A ORCA-IN 16 57778343 57778343 single base substitution G A missense_variant R74H 221G>A ORCA-IN 16 57788257 57788257 single base substitution G A downstream_gene_variant ORCA-IN 16 57788257 57788257 single base substitution G A intron_variant ORCA-IN 16 57788257 57788257 single base substitution G A upstream_gene_variant ORCA-IN 16 57789260 57789260 single base substitution G T downstream_gene_variant ORCA-IN 16 57789260 57789260 single base substitution G T exon_variant ORCA-IN 16 57789260 57789260 single base substitution G T missense_variant V102L 304G>T ORCA-IN 16 57789260 57789260 single base substitution G T missense_variant V474L 1420G>T ORCA-IN 16 57789260 57789260 single base substitution G T upstream_gene_variant ORCA-IN 16 57791547 57791547 single base substitution G T downstream_gene_variant ORCA-IN 16 57794647 57794647 single base substitution C A downstream_gene_variant OV-AU 16 57765127 57765127 single base substitution A G upstream_gene_variant OV-AU 16 57765471 57765471 single base substitution C G upstream_gene_variant OV-AU 16 57769496 57769496 single base substitution A G upstream_gene_variant OV-AU 16 57776483 57776483 single base substitution C A intron_variant OV-AU 16 57790823 57790823 single base substitution C T downstream_gene_variant OV-AU 16 57790823 57790823 single base substitution C T missense_variant R645C 1933C>T OV-AU 16 57794943 57794943 single base substitution G T downstream_gene_variant PACA-AU 16 57766006 57766006 single base substitution A G upstream_gene_variant PACA-AU 16 57771904 57771904 single base substitution G A intron_variant PACA-AU 16 57775304 57775304 single base substitution A C intron_variant PACA-AU 16 57775920 57775920 single base substitution C T intron_variant PACA-AU 16 57782385 57782385 single base substitution A T downstream_gene_variant PACA-AU 16 57782385 57782385 single base substitution A T intron_variant PACA-AU 16 57782385 57782385 single base substitution A T upstream_gene_variant PACA-AU 16 57784528 57784528 single base substitution A C intron_variant PACA-AU 16 57784528 57784528 single base substitution A C upstream_gene_variant PACA-AU 16 57788092 57788092 single base substitution G T downstream_gene_variant PACA-AU 16 57788092 57788092 single base substitution G T intron_variant PACA-AU 16 57788092 57788092 single base substitution G T upstream_gene_variant PACA-AU 16 57789623 57789623 single base substitution G A downstream_gene_variant PACA-AU 16 57789623 57789623 single base substitution G A intron_variant PACA-AU 16 57794159 57794172 deletion of <=200bp GGCCACCTGAGCCA - downstream_gene_variant PACA-AU 16 57794533 57794533 single base substitution C T downstream_gene_variant PACA-CA 16 57765125 57765125 single base substitution C G upstream_gene_variant PACA-CA 16 57765544 57765544 single base substitution A G upstream_gene_variant PACA-CA 16 57767000 57767000 single base substitution A T upstream_gene_variant PACA-CA 16 57768310 57768310 single base substitution C G upstream_gene_variant PACA-CA 16 57768826 57768826 single base substitution G A upstream_gene_variant PACA-CA 16 57773255 57773255 single base substitution C T intron_variant PACA-CA 16 57775874 57775874 single base substitution G A intron_variant PACA-CA 16 57778043 57778043 single base substitution C T intron_variant PACA-CA 16 57787703 57787703 single base substitution C T downstream_gene_variant PACA-CA 16 57787703 57787703 single base substitution C T intron_variant PACA-CA 16 57787703 57787703 single base substitution C T upstream_gene_variant PACA-CA 16 57790805 57790805 single base substitution C T downstream_gene_variant PACA-CA 16 57790805 57790805 single base substitution C T exon_variant PACA-CA 16 57790805 57790805 single base substitution C T missense_variant R639C 1915C>T PACA-CA 16 57790980 57790980 single base substitution G A 3_prime_UTR_variant PACA-CA 16 57790980 57790980 single base substitution G A downstream_gene_variant PAEN-AU 16 57774365 57774365 single base substitution G A intron_variant PBCA-DE 16 57769656 57769656 insertion of <=200bp - A 5_prime_UTR_variant PBCA-DE 16 57769656 57769656 insertion of <=200bp - A upstream_gene_variant PBCA-DE 16 57770459 57770459 single base substitution C A intron_variant PBCA-DE 16 57770459 57770459 single base substitution C A upstream_gene_variant PBCA-DE 16 57788507 57788507 single base substitution G A downstream_gene_variant PBCA-DE 16 57788507 57788507 single base substitution G A intron_variant PBCA-DE 16 57788507 57788507 single base substitution G A upstream_gene_variant PBCA-DE 16 57789322 57789322 single base substitution C T downstream_gene_variant PBCA-DE 16 57789322 57789322 single base substitution C T exon_variant PBCA-DE 16 57789322 57789322 single base substitution C T synonymous_variant G122G 366C>T PBCA-DE 16 57789322 57789322 single base substitution C T synonymous_variant G494G 1482C>T PBCA-DE 16 57789322 57789322 single base substitution C T upstream_gene_variant PBCA-DE 16 57796160 57796160 single base substitution A G downstream_gene_variant PRAD-CA 16 57782384 57782384 single base substitution A T downstream_gene_variant PRAD-CA 16 57782384 57782384 single base substitution A T intron_variant PRAD-CA 16 57782384 57782384 single base substitution A T upstream_gene_variant READ-US 16 57787863 57787863 single base substitution C T downstream_gene_variant READ-US 16 57787863 57787863 single base substitution C T exon_variant READ-US 16 57787863 57787863 single base substitution C T missense_variant T23M 68C>T READ-US 16 57787863 57787863 single base substitution C T missense_variant T395M 1184C>T READ-US 16 57787863 57787863 single base substitution C T upstream_gene_variant RECA-EU 16 57771592 57771592 single base substitution A T intron_variant RECA-EU 16 57778594 57778594 single base substitution A C downstream_gene_variant RECA-EU 16 57778594 57778594 single base substitution A C intron_variant RECA-EU 16 57780684 57780684 single base substitution A G downstream_gene_variant RECA-EU 16 57780684 57780684 single base substitution A G intron_variant RECA-EU 16 57781919 57781919 single base substitution G A downstream_gene_variant RECA-EU 16 57781919 57781919 single base substitution G A intron_variant RECA-EU 16 57781920 57781920 single base substitution G T downstream_gene_variant RECA-EU 16 57781920 57781920 single base substitution G T intron_variant RECA-EU 16 57785737 57785737 single base substitution C G downstream_gene_variant RECA-EU 16 57785737 57785737 single base substitution C G intron_variant RECA-EU 16 57785737 57785737 single base substitution C G upstream_gene_variant RECA-EU 16 57786982 57786982 single base substitution T A downstream_gene_variant RECA-EU 16 57786982 57786982 single base substitution T A exon_variant RECA-EU 16 57786982 57786982 single base substitution T A splice_region_variant RECA-EU 16 57786982 57786982 single base substitution T A upstream_gene_variant SKCA-BR 16 57766616 57766616 single base substitution C T upstream_gene_variant SKCA-BR 16 57766773 57766773 single base substitution G A upstream_gene_variant SKCA-BR 16 57768741 57768741 single base substitution G A upstream_gene_variant SKCA-BR 16 57769549 57769549 single base substitution G A upstream_gene_variant SKCA-BR 16 57769593 57769593 single base substitution G A upstream_gene_variant SKCA-BR 16 57772357 57772357 single base substitution G A intron_variant SKCA-BR 16 57772589 57772589 single base substitution A G intron_variant SKCA-BR 16 57773731 57773731 single base substitution C T intron_variant SKCA-BR 16 57775351 57775351 single base substitution C T intron_variant SKCA-BR 16 57775848 57775848 single base substitution C T intron_variant SKCA-BR 16 57778688 57778690 deletion of <=200bp CGT - downstream_gene_variant SKCA-BR 16 57778688 57778690 deletion of <=200bp CGT - intron_variant SKCA-BR 16 57779224 57779224 single base substitution G A downstream_gene_variant SKCA-BR 16 57779224 57779224 single base substitution G A intron_variant SKCA-BR 16 57782373 57782373 insertion of <=200bp - ATTT downstream_gene_variant SKCA-BR 16 57782373 57782373 insertion of <=200bp - ATTT intron_variant SKCA-BR 16 57782373 57782373 insertion of <=200bp - ATTT upstream_gene_variant SKCA-BR 16 57782381 57782381 single base substitution A T downstream_gene_variant SKCA-BR 16 57782381 57782381 single base substitution A T intron_variant SKCA-BR 16 57782381 57782381 single base substitution A T upstream_gene_variant SKCA-BR 16 57786232 57786232 single base substitution G A downstream_gene_variant SKCA-BR 16 57786232 57786232 single base substitution G A exon_variant SKCA-BR 16 57786232 57786232 single base substitution G A intron_variant SKCA-BR 16 57786232 57786232 single base substitution G A upstream_gene_variant SKCA-BR 16 57786916 57786916 single base substitution C T downstream_gene_variant SKCA-BR 16 57786916 57786916 single base substitution C T exon_variant SKCA-BR 16 57786916 57786916 single base substitution C T intron_variant SKCA-BR 16 57786916 57786916 single base substitution C T upstream_gene_variant SKCA-BR 16 57787467 57787467 single base substitution C T downstream_gene_variant SKCA-BR 16 57787467 57787467 single base substitution C T intron_variant SKCA-BR 16 57787467 57787467 single base substitution C T upstream_gene_variant SKCA-BR 16 57787496 57787496 single base substitution C T downstream_gene_variant SKCA-BR 16 57787496 57787496 single base substitution C T intron_variant SKCA-BR 16 57787496 57787496 single base substitution C T upstream_gene_variant SKCA-BR 16 57788522 57788522 single base substitution C T downstream_gene_variant SKCA-BR 16 57788522 57788522 single base substitution C T intron_variant SKCA-BR 16 57788522 57788522 single base substitution C T upstream_gene_variant SKCA-BR 16 57790245 57790245 single base substitution A G downstream_gene_variant SKCA-BR 16 57790245 57790245 single base substitution A G exon_variant SKCA-BR 16 57790245 57790245 single base substitution A G intron_variant SKCA-BR 16 57791933 57791933 single base substitution G A downstream_gene_variant SKCA-BR 16 57792257 57792257 single base substitution T C downstream_gene_variant SKCA-BR 16 57792263 57792263 single base substitution A C downstream_gene_variant SKCM-US 16 57764843 57764843 single base substitution G A upstream_gene_variant SKCM-US 16 57775606 57775606 single base substitution C T exon_variant SKCM-US 16 57775606 57775606 single base substitution C T synonymous_variant I16I 48C>T SKCM-US 16 57775606 57775606 single base substitution C T synonymous_variant I20I 60C>T SKCM-US 16 57775704 57775704 single base substitution C T exon_variant SKCM-US 16 57775704 57775704 single base substitution C T missense_variant S49F 146C>T SKCM-US 16 57775704 57775704 single base substitution C T missense_variant S53F 158C>T SKCM-US 16 57775705 57775705 single base substitution C T exon_variant SKCM-US 16 57775705 57775705 single base substitution C T synonymous_variant S49S 147C>T SKCM-US 16 57775705 57775705 single base substitution C T synonymous_variant S53S 159C>T SKCM-US 16 57778395 57778395 single base substitution C T downstream_gene_variant SKCM-US 16 57778395 57778395 single base substitution C T exon_variant SKCM-US 16 57778395 57778395 single base substitution C T synonymous_variant I87I 261C>T SKCM-US 16 57778395 57778395 single base substitution C T synonymous_variant I91I 273C>T SKCM-US 16 57785579 57785579 single base substitution C T downstream_gene_variant SKCM-US 16 57785579 57785579 single base substitution C T exon_variant SKCM-US 16 57785579 57785579 single base substitution C T synonymous_variant L153L 459C>T SKCM-US 16 57785579 57785579 single base substitution C T synonymous_variant L157L 471C>T SKCM-US 16 57785579 57785579 single base substitution C T upstream_gene_variant SKCM-US 16 57785890 57785890 single base substitution C T downstream_gene_variant SKCM-US 16 57785890 57785890 single base substitution C T exon_variant SKCM-US 16 57785890 57785890 single base substitution C T synonymous_variant F185F 555C>T SKCM-US 16 57785890 57785890 single base substitution C T synonymous_variant F189F 567C>T SKCM-US 16 57785890 57785890 single base substitution C T upstream_gene_variant SKCM-US 16 57785893 57785893 single base substitution T G downstream_gene_variant SKCM-US 16 57785893 57785893 single base substitution T G exon_variant SKCM-US 16 57785893 57785893 single base substitution T G synonymous_variant P186P 558T>G SKCM-US 16 57785893 57785893 single base substitution T G synonymous_variant P190P 570T>G SKCM-US 16 57785893 57785893 single base substitution T G upstream_gene_variant SKCM-US 16 57787310 57787310 single base substitution G A downstream_gene_variant SKCM-US 16 57787310 57787310 single base substitution G A exon_variant SKCM-US 16 57787310 57787310 single base substitution G A synonymous_variant Q352Q 1056G>A SKCM-US 16 57787310 57787310 single base substitution G A upstream_gene_variant SKCM-US 16 57787354 57787354 single base substitution G A downstream_gene_variant SKCM-US 16 57787354 57787354 single base substitution G A exon_variant SKCM-US 16 57787354 57787354 single base substitution G A missense_variant R367Q 1100G>A SKCM-US 16 57787354 57787354 single base substitution G A upstream_gene_variant SKCM-US 16 57787413 57787413 single base substitution C T downstream_gene_variant SKCM-US 16 57787413 57787413 single base substitution C T exon_variant SKCM-US 16 57787413 57787413 single base substitution C T stop_gained Q15* 43C>T SKCM-US 16 57787413 57787413 single base substitution C T stop_gained Q387* 1159C>T SKCM-US 16 57787413 57787413 single base substitution C T upstream_gene_variant SKCM-US 16 57789407 57789407 single base substitution G A downstream_gene_variant SKCM-US 16 57789407 57789407 single base substitution G A splice_donor_variant SKCM-US 16 57790379 57790379 single base substitution G A downstream_gene_variant SKCM-US 16 57790379 57790379 single base substitution G A exon_variant SKCM-US 16 57790379 57790379 single base substitution G A synonymous_variant E255E 765G>A SKCM-US 16 57790379 57790379 single base substitution G A synonymous_variant E610E 1830G>A SKCM-US 16 57793672 57793672 single base substitution G A downstream_gene_variant SKCM-US 16 57794744 57794744 single base substitution G A downstream_gene_variant STAD-US 16 57764845 57764845 single base substitution G T upstream_gene_variant STAD-US 16 57778313 57778313 single base substitution C T exon_variant STAD-US 16 57778313 57778313 single base substitution C T missense_variant T60M 179C>T STAD-US 16 57778313 57778313 single base substitution C T missense_variant T64M 191C>T STAD-US 16 57778372 57778372 single base substitution G A downstream_gene_variant STAD-US 16 57778372 57778372 single base substitution G A exon_variant STAD-US 16 57778372 57778372 single base substitution G A missense_variant A80T 238G>A STAD-US 16 57778372 57778372 single base substitution G A missense_variant A84T 250G>A STAD-US 16 57785608 57785608 single base substitution C T downstream_gene_variant STAD-US 16 57785608 57785608 single base substitution C T exon_variant STAD-US 16 57785608 57785608 single base substitution C T missense_variant A163V 488C>T STAD-US 16 57785608 57785608 single base substitution C T missense_variant A167V 500C>T STAD-US 16 57785608 57785608 single base substitution C T upstream_gene_variant STAD-US 16 57787375 57787375 single base substitution C T downstream_gene_variant STAD-US 16 57787375 57787375 single base substitution C T exon_variant STAD-US 16 57787375 57787375 single base substitution C T missense_variant A2V 5C>T STAD-US 16 57787375 57787375 single base substitution C T missense_variant A374V 1121C>T STAD-US 16 57787375 57787375 single base substitution C T upstream_gene_variant STAD-US 16 57789031 57789031 single base substitution C T downstream_gene_variant STAD-US 16 57789031 57789031 single base substitution C T splice_region_variant STAD-US 16 57789031 57789031 single base substitution C T upstream_gene_variant STAD-US 16 57789257 57789257 single base substitution G A downstream_gene_variant STAD-US 16 57789257 57789257 single base substitution G A missense_variant A101T 301G>A STAD-US 16 57789257 57789257 single base substitution G A missense_variant A473T 1417G>A STAD-US 16 57789257 57789257 single base substitution G A splice_region_variant STAD-US 16 57789257 57789257 single base substitution G A upstream_gene_variant STAD-US 16 57789377 57789377 single base substitution C T downstream_gene_variant STAD-US 16 57789377 57789377 single base substitution C T exon_variant STAD-US 16 57789377 57789377 single base substitution C T missense_variant R141W 421C>T STAD-US 16 57789377 57789377 single base substitution C T missense_variant R513W 1537C>T STAD-US 16 57789829 57789829 single base substitution C T downstream_gene_variant STAD-US 16 57789829 57789829 single base substitution C T exon_variant STAD-US 16 57789829 57789829 single base substitution C T missense_variant A193V 578C>T STAD-US 16 57789829 57789829 single base substitution C T missense_variant A548V 1643C>T STAD-US 16 57789829 57789829 single base substitution C T splice_region_variant STAD-US 16 57789830 57789830 single base substitution G A downstream_gene_variant STAD-US 16 57789830 57789830 single base substitution G A exon_variant STAD-US 16 57789830 57789830 single base substitution G A splice_donor_variant STAD-US 16 57790289 57790289 single base substitution C A downstream_gene_variant STAD-US 16 57790289 57790289 single base substitution C A exon_variant STAD-US 16 57790289 57790289 single base substitution C A synonymous_variant T225T 675C>A STAD-US 16 57790289 57790289 single base substitution C A synonymous_variant T580T 1740C>A STAD-US 16 57794222 57794222 single base substitution C T downstream_gene_variant STAD-US 16 57794956 57794956 single base substitution G A downstream_gene_variant STAD-US 16 57795042 57795042 single base substitution G C downstream_gene_variant THCA-SA 16 57795028 57795028 single base substitution T C downstream_gene_variant UCEC-US 16 57764951 57764951 single base substitution C T upstream_gene_variant UCEC-US 16 57764958 57764958 single base substitution G A upstream_gene_variant UCEC-US 16 57765082 57765082 single base substitution A C upstream_gene_variant UCEC-US 16 57765158 57765158 single base substitution A C upstream_gene_variant UCEC-US 16 57775612 57775612 single base substitution G A exon_variant UCEC-US 16 57775612 57775612 single base substitution G A synonymous_variant A18A 54G>A UCEC-US 16 57775612 57775612 single base substitution G A synonymous_variant A22A 66G>A UCEC-US 16 57785560 57785560 single base substitution G A exon_variant UCEC-US 16 57785560 57785560 single base substitution G A missense_variant S147N 440G>A UCEC-US 16 57785560 57785560 single base substitution G A missense_variant S151N 452G>A UCEC-US 16 57785560 57785560 single base substitution G A synonymous_variant Q113Q 339G>A UCEC-US 16 57785560 57785560 single base substitution G A upstream_gene_variant UCEC-US 16 57786832 57786832 single base substitution G A downstream_gene_variant UCEC-US 16 57786832 57786832 single base substitution G A exon_variant UCEC-US 16 57786832 57786832 single base substitution G A missense_variant D283N 847G>A UCEC-US 16 57786832 57786832 single base substitution G A upstream_gene_variant UCEC-US 16 57787372 57787372 single base substitution G A downstream_gene_variant UCEC-US 16 57787372 57787372 single base substitution G A exon_variant UCEC-US 16 57787372 57787372 single base substitution G A missense_variant R1H 2G>A UCEC-US 16 57787372 57787372 single base substitution G A missense_variant R373H 1118G>A UCEC-US 16 57787372 57787372 single base substitution G A upstream_gene_variant UCEC-US 16 57789048 57789048 single base substitution G A downstream_gene_variant UCEC-US 16 57789048 57789048 single base substitution G A exon_variant UCEC-US 16 57789048 57789048 single base substitution G A synonymous_variant R438R 1314G>A UCEC-US 16 57789048 57789048 single base substitution G A synonymous_variant R66R 198G>A UCEC-US 16 57789048 57789048 single base substitution G A upstream_gene_variant UCEC-US 16 57789114 57789114 single base substitution C T downstream_gene_variant UCEC-US 16 57789114 57789114 single base substitution C T exon_variant UCEC-US 16 57789114 57789114 single base substitution C T synonymous_variant N460N 1380C>T UCEC-US 16 57789114 57789114 single base substitution C T synonymous_variant N88N 264C>T UCEC-US 16 57789114 57789114 single base substitution C T upstream_gene_variant UCEC-US 16 57792822 57792822 single base substitution C A downstream_gene_variant UCEC-US 16 57793712 57793712 single base substitution G A downstream_gene_variant UCEC-US 16 57794638 57794638 single base substitution C A downstream_gene_variant UCEC-US 16 57794675 57794675 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 42T COSM3712051 c.209G>A p.R70H Substitution - Missense 16:57744431-57744431 + YUROG COSM5385069 c.1191C>T p.P397P Substitution - coding silent 16:57753958-57753958 + MedB-1 COSM1211362 c.1135G>A p.A379T Substitution - Missense 16:57753477-57753477 + TCGA-BR-8487-01 COSM4061457 c.238G>A p.A80T Substitution - Missense 16:57744460-57744460 + TCGA-04-1342-01 COSM116750 c.977T>G p.L326R Substitution - Missense 16:57753198-57753198 + ESCC_151 COSM5645154 c.1006A>T p.I336F Substitution - Missense 16:57753227-57753227 + TCGA-A6-6653-01 COSM1378596 c.1581C>T p.S527S Substitution - coding silent 16:57755855-57755855 + YUNEKI COSM5385073 c.1890C>T p.V630V Substitution - coding silent 16:57756868-57756868 + 353 COSM3722231 c.1638G>A p.Q546Q Substitution - coding silent 16:57755912-57755912 + CSCC-41-T COSM4482174 c.257C>T p.S86F Substitution - Missense 16:57744479-57744479 + TCGA-D5-6930-01 COSM5166334 c.1567-3C>A p.? Unknown 16:57755838-57755838 + 3_PRE-TREATMENT COSM1723579 c.1044G>A p.Q348Q Substitution - coding silent 16:57753265-57753265 + 587238 COSM1211360 c.40C>T p.Q14* Substitution - Nonsense 16:57737283-57737283 + YUOMEGA COSM5385068 c.601G>A p.E201K Substitution - Missense 16:57752024-57752024 + BD246T COSM5496278 c.517-3C>T p.? Unknown 16:57751937-57751937 + TCGA-DR-A0ZM-01 COSM460514 c.1620C>T p.L540L Substitution - coding silent 16:57755894-57755894 + TCGA-AP-A059-01 COSM971888 c.440G>A p.S147N Substitution - Missense 16:57751648-57751648 + TCGA-EE-A29C-06 COSM3510553 c.558T>G p.P186P Substitution - coding silent 16:57751981-57751981 + 169 COSM3729651 c.596C>A p.P199H Substitution - Missense 16:57752019-57752019 + MO_1012 COSM5555848 c.1904G>A p.G635D Substitution - Missense 16:57756882-57756882 + TCGA-A2-A0D1-01 COSM5833108 c.1956_1957insG p.S653fs*>4 Insertion - Frameshift 16:57756934-57756935 + TCGA-EE-A29M-06 COSM3510556 c.1159C>T p.Q387* Substitution - Nonsense 16:57753501-57753501 + TCGA-BR-8680-01 COSM4061461 c.1417G>A p.A473T Substitution - Missense 16:57755345-57755345 + OSCC-GB_00190111 COSM3712052 c.1420G>T p.V474L Substitution - Missense 16:57755348-57755348 + TCGA-EE-A2MC-06 COSM3510550 c.261C>T p.I87I Substitution - coding silent 16:57744483-57744483 + Pat_15_B COSM5851103 c.1420G>A p.V474M Substitution - Missense 16:57755348-57755348 + KPOPBR-27-T COSM5966071 c.1629C>T p.I543I Substitution - coding silent 16:57755903-57755903 + TCGA-20-1685-01 COSM1324387 c.29C>A p.A10D Substitution - Missense 16:57737272-57737272 + TCGA-CG-5728-01 COSM4061463 c.1643+1G>A p.? Unknown 16:57755918-57755918 + TCGA-AZ-6601-01 COSM5142365 c.432+10C>T p.? Unknown 16:57751312-57751312 + TCGA-D1-A16F-01 COSM971891 c.1118G>A p.R373H Substitution - Missense 16:57753460-57753460 + RK164_C01 COSM3701093 c.1535T>C p.V512A Substitution - Missense 16:57755463-57755463 + C0092T COSM4151361 c.856-7T>A p.? Unknown 16:57753070-57753070 + TCGA-AK-3456-01 COSM471866 c.135C>T p.V45V Substitution - coding silent 16:57741781-57741781 + T26 COSM5342801 c.1605G>A p.S535S Substitution - coding silent 16:57755879-57755879 + TCGA-B2-5641-01 COSM471867 c.615C>T p.A205A Substitution - coding silent 16:57752038-57752038 + 73 COSM4945260 c.1763G>A p.R588Q Substitution - Missense 16:57756400-57756400 + ESO-043 COSM1255200 c.222C>T p.P74P Substitution - coding silent 16:57744444-57744444 + P143 COSM1737049 c.389A>G p.K130R Substitution - Missense 16:57750926-57750926 + 3_RESISTANT COSM1723579 c.1044G>A p.Q348Q Substitution - coding silent 16:57753265-57753265 + T3118 COSM4694089 c.1149C>T p.N383N Substitution - coding silent 16:57753491-57753491 + TCGA-EE-A2M5-06 COSM3510547 c.48C>T p.I16I Substitution - coding silent 16:57741694-57741694 + PD7219a COSM5775171 c.213C>T p.L71L Substitution - coding silent 16:57744435-57744435 + TCGA-DK-A3IN-01 COSM3794941 c.1623G>C p.L541L Substitution - coding silent 16:57755897-57755897 + PT31 COSM5906976 c.1229-2A>T p.? Unknown 16:57754928-57754928 + T3021 COSM4694088 c.1072C>T p.R358C Substitution - Missense 16:57753414-57753414 + CN-AML-CR-60-Dx COSM4129148 c.894C>T p.Y298Y Substitution - coding silent 16:57753115-57753115 + TCGA-FP-A4BE-01 COSM4061462 c.1643C>T p.A548V Substitution - Missense 16:57755917-57755917 + OSCC-GB_00420111 COSM3712051 c.209G>A p.R70H Substitution - Missense 16:57744431-57744431 + 2292387 COSM4610733 c.1513C>T p.R505C Substitution - Missense 16:57755441-57755441 + TCGA-AP-A0LM-01 COSM971887 c.54G>A p.A18A Substitution - coding silent 16:57741700-57741700 + TCGA-DY-A0XA-01 COSM1563583 c.1184C>T p.T395M Substitution - Missense 16:57753951-57753951 + PTC-28C COSM4129147 c.726C>T p.D242D Substitution - coding silent 16:57752799-57752799 + T3174 COSM4694087 c.1003C>T p.R335C Substitution - Missense 16:57753224-57753224 + TCGA-BR-4361-01 COSM4061458 c.488C>T p.A163V Substitution - Missense 16:57751696-57751696 + TCGA-39-5028-01 COSM704031 c.231C>G p.L77L Substitution - coding silent 16:57744453-57744453 + PT09_1 COSM5895011 c.226G>A p.E76K Substitution - Missense 16:57744448-57744448 + CSCC-10-T COSM4505607 c.697C>T p.P233S Substitution - Missense 16:57752594-57752594 + ESCC-178T COSM3937103 c.619G>A p.G207S Substitution - Missense 16:57752042-57752042 + B60-Tumor COSM3932370 c.1227C>T p.D409D Substitution - coding silent 16:57753994-57753994 + TCGA-EE-A182-06 COSM3510549 c.147C>T p.S49S Substitution - coding silent 16:57741793-57741793 + TCGA-WS-AB45-01 COSM5188741 c.992delC p.L333fs*18 Deletion - Frameshift 16:57753213-57753213 + TCGA-EE-A20H-06 COSM3510548 c.146C>T p.S49F Substitution - Missense 16:57741792-57741792 + CHC1616T COSM4803707 c.451C>T p.R151W Substitution - Missense 16:57751659-57751659 + PT09_2 COSM5895011 c.226G>A p.E76K Substitution - Missense 16:57744448-57744448 + TCGA-BR-4361-01 COSM4061456 c.179C>T p.T60M Substitution - Missense 16:57744401-57744401 + TCGA-AN-A04D-01 COSM435440 c.171+1G>A p.? Unknown 16:57741818-57741818 + CHC1616T COSM4803707 c.451C>T p.R151W Substitution - Missense 16:57751659-57751659 + SJRHB059R COSM3738085 c.517-8G>A p.? Unknown 16:57751932-57751932 + TCGA-HU-A4H3-01 COSM4061460 c.1297C>T p.L433L Substitution - coding silent 16:57755119-57755119 + PT37 COSM5920994 c.1538G>A p.R513Q Substitution - Missense 16:57755466-57755466 + 4989_CLM COSM5754878 c.391-1G>T p.? Unknown 16:57751260-57751260 + TCGA-CK-4951-01 COSM5148881 c.885C>T p.V295V Substitution - coding silent 16:57753106-57753106 + CSCC-55-T COSM4474757 c.193C>T p.P65S Substitution - Missense 16:57744415-57744415 + sysucc-1370T COSM5176331 c.1475G>A p.R492H Substitution - Missense 16:57755403-57755403 + BD55T COSM5509520 c.1597G>A p.D533N Substitution - Missense 16:57755871-57755871 + YUKSI COSM5385072 c.1859_1860insC p.K621fs*4 Insertion - Frameshift 16:57756837-57756838 + TCGA-DK-A3X1-01 COSM3794939 c.1102G>A p.D368N Substitution - Missense 16:57753444-57753444 + CHC1556T COSM4787692 c.1015C>T p.R339W Substitution - Missense 16:57753236-57753236 + sysucc-1640T COSM5765550 c.1485C>T p.H495H Substitution - coding silent 16:57755413-57755413 + 19 COSM4945260 c.1763G>A p.R588Q Substitution - Missense 16:57756400-57756400 + BD166T COSM5494647 c.1119C>T p.R373R Substitution - coding silent 16:57753461-57753461 + T3246 COSM4694090 c.1286C>T p.P429L Substitution - Missense 16:57754987-57754987 + TCGA-E2-A1B4-01 COSM435441 c.829G>A p.D277N Substitution - Missense 16:57752902-57752902 + LAU63 COSM232576 c.1312C>T p.R438W Substitution - Missense 16:57755134-57755134 + TCGA-A6-2686-01 COSM5084750 c.1068C>T p.S356S Substitution - coding silent 16:57753410-57753410 + TCGA-BR-A4IY-01 COSM4061459 c.1121C>T p.A374V Substitution - Missense 16:57753463-57753463 + TCGA-AD-6889-01 COSM971888 c.440G>A p.S147N Substitution - Missense 16:57751648-57751648 + TCGA-D3-A2J8-06 COSM3510551 c.459C>T p.L153L Substitution - coding silent 16:57751667-57751667 + PTC-14C COSM4129148 c.894C>T p.Y298Y Substitution - coding silent 16:57753115-57753115 + TCGA-BT-A3PJ-01 COSM3794938 c.1090G>A p.E364K Substitution - Missense 16:57753432-57753432 + S0075 COSM5882739 c.1245G>T p.K415N Substitution - Missense 16:57754946-57754946 + SCC-25 COSM4597294 c.122A>G p.D41G Substitution - Missense 16:57741768-57741768 + C086 COSM5532994 c.711C>T p.V237V Substitution - coding silent 16:57752784-57752784 + TCGA-EE-A2MN-06 COSM3510554 c.1056G>A p.Q352Q Substitution - coding silent 16:57753398-57753398 + TCGA-CM-5861-01 COSM1378597 c.1583C>A p.A528D Substitution - Missense 16:57755857-57755857 + AOCS-162-1-1 COSM3948605 c.1933C>T p.R645C Substitution - Missense 16:57756911-57756911 + TCGA-BR-6452-01 COSM4061464 c.1740C>A p.T580T Substitution - coding silent 16:57756377-57756377 + TCGA-G4-6309-01 COSM5176331 c.1475G>A p.R492H Substitution - Missense 16:57755403-57755403 + TCGA-D3-A2J9-06 COSM3510555 c.1100G>A p.R367Q Substitution - Missense 16:57753442-57753442 + HN_00761 COSM123837 c.1150G>A p.E384K Substitution - Missense 16:57753492-57753492 + UM-SCC-11B COSM4597732 c.1126A>T p.I376F Substitution - Missense 16:57753468-57753468 + 587338 COSM1211362 c.1135G>A p.A379T Substitution - Missense 16:57753477-57753477 + CN-AML-CR-66-Dx COSM5426879 c.1416C>T p.P472P Substitution - coding silent 16:57755238-57755238 + TCGA-AP-A0LV-01 COSM971893 c.1380C>T p.N460N Substitution - coding silent 16:57755202-57755202 + TCGA-AZ-6601-01 COSM5142366 c.1060T>C p.S354P Substitution - Missense 16:57753402-57753402 + TCGA-BK-A0C9-01 COSM971890 c.847G>A p.D283N Substitution - Missense 16:57752920-57752920 + BD169T COSM5505636 c.1474C>T p.R492C Substitution - Missense 16:57755402-57755402 + TCGA-FS-A1Z3-06 COSM3510552 c.555C>T p.F185F Substitution - coding silent 16:57751978-57751978 + BD49T COSM5498220 c.1482C>T p.G494G Substitution - coding silent 16:57755410-57755410 + YUROG COSM5385071 c.1440C>G p.A480A Substitution - coding silent 16:57755368-57755368 + BD186T COSM5501234 c.754G>A p.D252N Substitution - Missense 16:57752827-57752827 + TCGA-AD-A5EJ-01 COSM5133086 c.1231G>A p.A411T Substitution - Missense 16:57754932-57754932 + TCGA-AA-3518-01 COSM291690 c.285C>A p.A95A Substitution - coding silent 16:57744507-57744507 + TCGA-AD-5900-01 COSM5128541 c.995C>A p.P332H Substitution - Missense 16:57753216-57753216 + T2225 COSM4694086 c.511G>A p.V171M Substitution - Missense 16:57751719-57751719 + TCGA-66-2794-01 COSM704028 c.1214C>A p.A405E Substitution - Missense 16:57753981-57753981 + 19T COSM3712052 c.1420G>T p.V474L Substitution - Missense 16:57755348-57755348 + YUROG COSM5385070 c.1192C>T p.R398W Substitution - Missense 16:57753959-57753959 + YUCHIME COSM1686727 c.433-1G>A p.? Unknown 16:57751640-57751640 + TCGA-19-1790 COSM2156078 c.1510_1511delAG p.S504fs*60 Deletion - Frameshift 16:57755438-57755439 + TCGA-FD-A3N5-01 COSM1302069 c.846T>C p.N282N Substitution - coding silent 16:57752919-57752919 + S0075 COSM5882738 c.526C>G p.L176V Substitution - Missense 16:57751949-57751949 + H358 COSM1194177 c.1268C>T p.A423V Substitution - Missense 16:57754969-57754969 + SNUH_G06_S1 COSM3679931 c.630C>G p.D210E Substitution - Missense 16:57752053-57752053 + TCGA-EE-A29N-06 COSM3510557 c.1566+1G>A p.? Unknown 16:57755495-57755495 + CHC1556T COSM4787692 c.1015C>T p.R339W Substitution - Missense 16:57753236-57753236 + TCGA-AZ-6598-01 COSM5141141 c.1718+5G>A p.? Unknown 16:57756071-57756071 + I2L-P7-Tumor-Organoid COSM5363621 c.1134C>T p.N378N Substitution - coding silent 16:57753476-57753476 + TCGA-B5-A0JY-01 COSM971892 c.1314G>A p.R438R Substitution - coding silent 16:57755136-57755136 + 587338 COSM1211361 c.448G>A p.V150M Substitution - Missense 16:57751656-57751656 + 410 COSM4430856 c.1400C>T p.A467V Substitution - Missense 16:57755222-57755222 + PT36 COSM5916520 c.1337C>T p.P446L Substitution - Missense 16:57755159-57755159 + TCGA-BR-8081-01 COSM2992411 c.1537C>T p.R513W Substitution - Missense 16:57755465-57755465 + TCGA-EE-A2MN-06 COSM3510558 c.1830G>A p.E610E Substitution - coding silent 16:57756467-57756467 + TCGA-36-2538-01 COSM1324386 c.989G>A p.S330N Substitution - Missense 16:57753210-57753210 + T3094 COSM4694085 c.96C>T p.S32S Substitution - coding silent 16:57741742-57741742 + CSB14 COSM5028145 c.1001G>A p.R334Q Substitution - Missense 16:57753222-57753222 + TCGA-EK-A2PG-01 COSM4819935 c.1083C>G p.P361P Substitution - coding silent 16:57753425-57753425 + TCGA-DK-A3IN-01 COSM3794940 c.1410C>T p.F470F Substitution - coding silent 16:57755232-57755232 + TCGA-AA-3492-01 COSM1378598 c.1730C>T p.T577M Substitution - Missense 16:57756367-57756367 + TCGA-D1-A177-01 COSM971889 c.803T>C p.V268A Substitution - Missense 16:57752876-57752876 + RK308_C01 COSM3741956 c.580G>A p.V194M Substitution - Missense 16:57752003-57752003 + TCGA-E9-A1N9-01 COSM3818164 c.1390G>C p.G464R Substitution - Missense 16:57755212-57755212 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.275545;Hs.275663;Hs.275675 16q21 602703

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.A405E c.1214C>A 16 57787893 LUSC C G Synonymous p.L77L c.231C>G 16 57778365 LUSC C T Missense p.S49F c.146C>T 16 57775704 CM C T Nonsense p.Q387* c.1159C>T 16 57787413 CM C T Synonymous p.A205A c.615C>T 16 57785950 RCCC C T Synonymous p.F141F c.423C>T 16 57785205 CM C T Synonymous p.F185F c.555C>T 16 57785890 CM C T Synonymous p.F470F c.1410C>T 16 57789144 BLCA C T Synonymous p.I16I c.48C>T 16 57775606 CM C T Synonymous p.I87I c.261C>T 16 57778395 CM C T Synonymous p.L153L c.459C>T 16 57785579 CM C T Synonymous p.N460N c.1380C>T 16 57789114 UCEC C T Synonymous p.P157P c.471C>T 16 57785591 STAD C T Synonymous p.S49S c.147C>T 16 57775705 CM C T Synonymous p.V45V c.135C>T 16 57775693 RCCC G A 5-UTRSNV . c.1-75G>A 16 57771081 CLL G A Missense p.D277N c.829G>A 16 57786814 BRCA G A Missense p.D283N c.847G>A 16 57786832 UCEC G A Missense p.E364K c.1090G>A 16 57787344 BLCA G A Missense p.E384K c.1150G>A 16 57787404 HNSC G A Missense p.R334Q c.1001G>A 16 57787134 BRCA G A Missense p.R367Q c.1100G>A 16 57787354 CM G A Missense p.R373H c.1118G>A 16 57787372 UCEC G A SpliceDonorSNV . c.1566+1G>A 16 57789407 CM G A SpliceDonorSNV . c.1643+1G>A 16 57789830 STAD G A SpliceDonorSNV . c.171+1G>A 16 57775730 BRCA G A Synonymous p.E610E c.1830G>A 16 57790379 CM G A Synonymous p.Q352Q c.1056G>A 16 57787310 CM G C Missense p.D242H c.724G>C 16 57786709 HNSC G C Synonymous p.L541L c.1623G>C 16 57789809 BLCA G T IntronicSNV . c.1835+47G>T 16 57790431 STAD T C Synonymous p.N282N c.846T>C 16 57786831 BLCA T G Missense p.L326R c.977T>G 16 57787110 OV T G Synonymous p.P186P c.558T>G 16 57785893 CM