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 30198031 30198031 + Missense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr16:30198031G>T c.311G>T c.(310-312)tGc>tTc p.C104F BLCA 16 30197968 30197968 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr16:30197968C>T c.248C>T c.(247-249)cCt>cTt p.P83L BLCA 16 30198143 30198143 + Missense_Mutation SNP G G C TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr16:30198143G>C c.328G>C c.(328-330)Gag>Cag p.E110Q BLCA 16 30198213 30198213 + Missense_Mutation SNP G G A TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr16:30198213G>A c.398G>A c.(397-399)cGt>cAt p.R133H BLCA 16 30198259 30198259 + Silent SNP C C T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr16:30198259C>T c.444C>T c.(442-444)ctC>ctT p.L148L BLCA 16 30198259 30198260 + Frame_Shift_Ins INS - - T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr16:30198259_30198260insT c.444_445insT c.(445-447)agtfs p.S149fs BLCA 16 30199132 30199132 + Silent SNP C C A TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr16:30199132C>A c.843C>A c.(841-843)atC>atA p.I281I BLCA 16 30199566 30199566 + Missense_Mutation SNP G G A TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chr16:30199566G>A c.1061G>A c.(1060-1062)cGa>cAa p.R354Q BLCA 16 30199708 30199708 + Nonsense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr16:30199708C>A c.1092C>A c.(1090-1092)taC>taA p.Y364* BLCA 16 30199780 30199780 + Silent SNP C C G TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr16:30199780C>G c.1164C>G c.(1162-1164)ctC>ctG p.L388L BLCA 16 30199868 30199868 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr16:30199868G>A c.1252G>A c.(1252-1254)Gca>Aca p.A418T BRCA 16 30198152 30198152 + Missense_Mutation SNP G G C TCGA-BH-A1FU-01A-11D-A14G-09 TCGA-BH-A1FU-11A-23D-A14G-09 g.chr16:30198152G>C c.337G>C c.(337-339)Gat>Cat p.D113H CESC 16 30198163 30198163 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr16:30198163G>C c.348G>C c.(346-348)ctG>ctC p.L116L COAD 16 30196692 30196692 + Silent SNP C C T TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr16:30196692C>T c.162C>T c.(160-162)agC>agT p.S54S COAD 16 30196724 30196724 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr16:30196724G>A c.194G>A c.(193-195)gGc>gAc p.G65D COAD 16 30199718 30199718 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr16:30199718G>A c.1102G>A c.(1102-1104)Gca>Aca p.A368T COADREAD 16 30196692 30196692 + Silent SNP C C T TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr16:30196692C>T c.162C>T c.(160-162)agC>agT p.S54S COADREAD 16 30196724 30196724 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr16:30196724G>A c.194G>A c.(193-195)gGc>gAc p.G65D COADREAD 16 30199718 30199718 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr16:30199718G>A c.1102G>A c.(1102-1104)Gca>Aca p.A368T DLBC 16 30198463 30198463 + Silent SNP C C T TCGA-FA-A6HN-01A-11D-A31X-10 TCGA-FA-A6HN-10A-01D-A31X-10 g.chr16:30198463C>T c.555C>T c.(553-555)agC>agT p.S185S DLBC 16 30199792 30199792 + Silent SNP C C G TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr16:30199792C>G c.1176C>G c.(1174-1176)ctC>ctG p.L392L ESCA 16 30198370 30198370 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr16:30198370C>T c.462C>T c.(460-462)aaC>aaT p.N154N GBM 16 30198720 30198720 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 g.chr16:30198720C>T c.654C>T c.(652-654)caC>caT p.H218H GBMLGG 16 30198720 30198720 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 g.chr16:30198720C>T c.654C>T c.(652-654)caC>caT p.H218H GBMLGG 16 30199764 30199764 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr16:30199764G>A c.1148G>A c.(1147-1149)cGg>cAg p.R383Q HNSC 16 30199516 30199516 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr16:30199516C>G c.1011C>G c.(1009-1011)ttC>ttG p.F337L HNSC 16 30199820 30199820 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 g.chr16:30199820C>T c.1204C>T c.(1204-1206)Cgg>Tgg p.R402W KICH 16 30198795 30198795 + Silent SNP T T C TCGA-KL-8337-01A-11D-2310-10 TCGA-KL-8337-11A-01D-2310-10 g.chr16:30198795T>C c.729T>C c.(727-729)agT>agC p.S243S KIPAN 16 30198495 30198495 + Missense_Mutation SNP G G A TCGA-B2-4098-01A-01D-1458-08 TCGA-B2-4098-10A-01D-1458-08 g.chr16:30198495G>A c.587G>A c.(586-588)cGt>cAt p.R196H KIPAN 16 30198546 30198547 + Splice_Site INS - - GA TCGA-A4-7734-01A-11D-2136-08 TCGA-A4-7734-10A-01D-2136-08 g.chr16:30198546_30198547insGA c.e5+2 KIPAN 16 30198794 30198794 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 g.chr16:30198794G>A c.728G>A c.(727-729)aGt>aAt p.S243N KIPAN 16 30198795 30198795 + Silent SNP T T C TCGA-KL-8337-01A-11D-2310-10 TCGA-KL-8337-11A-01D-2310-10 g.chr16:30198795T>C c.729T>C c.(727-729)agT>agC p.S243S KIPAN 16 30199863 30199863 + Missense_Mutation SNP G G C TCGA-CJ-4905-01A-02D-1429-08 TCGA-CJ-4905-11A-01D-1429-08 g.chr16:30199863G>C c.1247G>C c.(1246-1248)aGg>aCg p.R416T KIRC 16 30198495 30198495 + Missense_Mutation SNP G G A TCGA-B2-4098-01A-01D-1458-08 TCGA-B2-4098-10A-01D-1458-08 g.chr16:30198495G>A c.587G>A c.(586-588)cGt>cAt p.R196H KIRC 16 30198794 30198794 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 g.chr16:30198794G>A c.728G>A c.(727-729)aGt>aAt p.S243N KIRC 16 30199863 30199863 + Missense_Mutation SNP G G C TCGA-CJ-4905-01A-02D-1429-08 TCGA-CJ-4905-11A-01D-1429-08 g.chr16:30199863G>C c.1247G>C c.(1246-1248)aGg>aCg p.R416T KIRP 16 30198546 30198547 + Splice_Site INS - - GA TCGA-A4-7734-01A-11D-2136-08 TCGA-A4-7734-10A-01D-2136-08 g.chr16:30198546_30198547insGA c.e5+2 LGG 16 30199764 30199764 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr16:30199764G>A c.1148G>A c.(1147-1149)cGg>cAg p.R383Q LIHC 16 30196584 30196584 + Silent SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr16:30196584G>T c.54G>T c.(52-54)ccG>ccT p.P18P LIHC 16 30198463 30198463 + Silent SNP C C T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr16:30198463C>T c.555C>T c.(553-555)agC>agT p.S185S LIHC 16 30199817 30199817 + Missense_Mutation SNP A A G TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr16:30199817A>G c.1201A>G c.(1201-1203)Agc>Ggc p.S401G LUAD 16 30198005 30198005 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr16:30198005C>T c.285C>T c.(283-285)aaC>aaT p.N95N LUAD 16 30198403 30198403 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr16:30198403delG c.495delG c.(493-495)gcgfs p.A166fs LUAD 16 30198429 30198429 + Missense_Mutation SNP T T C TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr16:30198429T>C c.521T>C c.(520-522)gTg>gCg p.V174A LUAD 16 30199766 30199766 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr16:30199766G>A c.1150G>A c.(1150-1152)Gat>Aat p.D384N PRAD 16 30198525 30198525 + Missense_Mutation SNP G G A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 g.chr16:30198525G>A c.617G>A c.(616-618)cGc>cAc p.R206H SKCM 16 30196587 30196587 + Silent SNP C C A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr16:30196587C>A c.57C>A c.(55-57)gcC>gcA p.A19A SKCM 16 30198041 30198041 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr16:30198041G>A c.321G>A c.(319-321)atG>atA p.M107I SKCM 16 30198142 30198142 + Nonsense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr16:30198142G>A c.327G>A c.(325-327)tgG>tgA p.W109* SKCM 16 30198725 30198725 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr16:30198725G>A c.659G>A c.(658-660)gGg>gAg p.G220E SKCM 16 30199304 30199304 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 g.chr16:30199304C>T c.903C>T c.(901-903)gcC>gcT p.A301A SKCM 16 30199684 30199684 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr16:30199684G>A c.1068G>A c.(1066-1068)tcG>tcA p.S356S SKCM 16 30199760 30199760 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr16:30199760G>A c.1144G>A c.(1144-1146)Ggt>Agt p.G382S SKCM 16 30199816 30199816 + Silent SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr16:30199816G>A c.1200G>A c.(1198-1200)aaG>aaA p.K400K SKCM 16 30199825 30199825 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:30199825G>A c.1209G>A c.(1207-1209)gaG>gaA p.E403E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 16 30198259 30198259 insertion of <=200bp - T downstream_gene_variant BLCA-US 16 30198259 30198259 insertion of <=200bp - T exon_variant BLCA-US 16 30198259 30198259 insertion of <=200bp - T frameshift_variant L107L? BLCA-US 16 30198259 30198259 insertion of <=200bp - T frameshift_variant L148L? BLCA-US 16 30198259 30198259 insertion of <=200bp - T frameshift_variant L184L? BLCA-US 16 30198259 30198259 insertion of <=200bp - T intron_variant BLCA-US 16 30198259 30198259 insertion of <=200bp - T upstream_gene_variant BLCA-US 16 30199708 30199708 single base substitution C A downstream_gene_variant BLCA-US 16 30199708 30199708 single base substitution C A exon_variant BLCA-US 16 30199708 30199708 single base substitution C A intron_variant BLCA-US 16 30199708 30199708 single base substitution C A stop_gained Y364* 1092C>A BLCA-US 16 30199868 30199868 single base substitution G A downstream_gene_variant BLCA-US 16 30199868 30199868 single base substitution G A exon_variant BLCA-US 16 30199868 30199868 single base substitution G A intron_variant BLCA-US 16 30199868 30199868 single base substitution G A missense_variant A418T 1252G>A BOCA-UK 16 30198505 30198505 single base substitution C T downstream_gene_variant BOCA-UK 16 30198505 30198505 single base substitution C T exon_variant BOCA-UK 16 30198505 30198505 single base substitution C T synonymous_variant R158R 474C>T BOCA-UK 16 30198505 30198505 single base substitution C T synonymous_variant R199R 597C>T BOCA-UK 16 30198505 30198505 single base substitution C T upstream_gene_variant BRCA-EU 16 30189790 30189790 single base substitution T G upstream_gene_variant BRCA-EU 16 30190084 30190084 single base substitution G T upstream_gene_variant BRCA-EU 16 30190790 30190790 single base substitution C G upstream_gene_variant BRCA-EU 16 30192864 30192864 single base substitution A T upstream_gene_variant BRCA-EU 16 30193765 30193765 single base substitution C G upstream_gene_variant BRCA-EU 16 30194168 30194168 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 30194168 30194168 single base substitution C G upstream_gene_variant BRCA-EU 16 30194533 30194533 single base substitution C T intron_variant BRCA-EU 16 30194533 30194533 single base substitution C T upstream_gene_variant BRCA-EU 16 30195592 30195592 single base substitution A T 5_prime_UTR_variant BRCA-EU 16 30195592 30195592 single base substitution A T exon_variant BRCA-EU 16 30195592 30195592 single base substitution A T intron_variant BRCA-EU 16 30195592 30195592 single base substitution A T upstream_gene_variant BRCA-EU 16 30198750 30198750 single base substitution C T downstream_gene_variant BRCA-EU 16 30198750 30198750 single base substitution C T exon_variant BRCA-EU 16 30198750 30198750 single base substitution C T synonymous_variant F187F 561C>T BRCA-EU 16 30198750 30198750 single base substitution C T synonymous_variant F228F 684C>T BRCA-EU 16 30198750 30198750 single base substitution C T upstream_gene_variant BRCA-EU 16 30202688 30202688 single base substitution G A downstream_gene_variant BRCA-FR 16 30190084 30190084 single base substitution G T upstream_gene_variant BRCA-FR 16 30194168 30194168 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 16 30194168 30194168 single base substitution C G upstream_gene_variant BRCA-FR 16 30197526 30197526 single base substitution C T downstream_gene_variant BRCA-FR 16 30197526 30197526 single base substitution C T exon_variant BRCA-FR 16 30197526 30197526 single base substitution C T intron_variant BRCA-FR 16 30197526 30197526 single base substitution C T upstream_gene_variant BRCA-FR 16 30198750 30198750 single base substitution C T downstream_gene_variant BRCA-FR 16 30198750 30198750 single base substitution C T exon_variant BRCA-FR 16 30198750 30198750 single base substitution C T synonymous_variant F187F 561C>T BRCA-FR 16 30198750 30198750 single base substitution C T synonymous_variant F228F 684C>T BRCA-FR 16 30198750 30198750 single base substitution C T upstream_gene_variant BRCA-US 16 30198152 30198152 single base substitution G C downstream_gene_variant BRCA-US 16 30198152 30198152 single base substitution G C exon_variant BRCA-US 16 30198152 30198152 single base substitution G C intron_variant BRCA-US 16 30198152 30198152 single base substitution G C missense_variant D113H 337G>C BRCA-US 16 30198152 30198152 single base substitution G C missense_variant D149H 445G>C BRCA-US 16 30198152 30198152 single base substitution G C missense_variant D72H 214G>C BRCA-US 16 30198152 30198152 single base substitution G C upstream_gene_variant BTCA-JP 16 30194412 30194412 single base substitution G C intron_variant BTCA-JP 16 30194412 30194412 single base substitution G C missense_variant R22T 65G>C BTCA-JP 16 30194412 30194412 single base substitution G C upstream_gene_variant BTCA-JP 16 30198395 30198395 single base substitution A G downstream_gene_variant BTCA-JP 16 30198395 30198395 single base substitution A G exon_variant BTCA-JP 16 30198395 30198395 single base substitution A G missense_variant T122A 364A>G BTCA-JP 16 30198395 30198395 single base substitution A G missense_variant T163A 487A>G BTCA-JP 16 30198395 30198395 single base substitution A G missense_variant T199A 595A>G BTCA-JP 16 30198395 30198395 single base substitution A G upstream_gene_variant BTCA-JP 16 30198589 30198591 deletion of <=200bp CTT - downstream_gene_variant BTCA-JP 16 30198589 30198591 deletion of <=200bp CTT - intron_variant BTCA-JP 16 30198589 30198591 deletion of <=200bp CTT - upstream_gene_variant CESC-US 16 30198163 30198163 single base substitution G C downstream_gene_variant CESC-US 16 30198163 30198163 single base substitution G C exon_variant CESC-US 16 30198163 30198163 single base substitution G C intron_variant CESC-US 16 30198163 30198163 single base substitution G C synonymous_variant L116L 348G>C CESC-US 16 30198163 30198163 single base substitution G C synonymous_variant L152L 456G>C CESC-US 16 30198163 30198163 single base substitution G C synonymous_variant L75L 225G>C CESC-US 16 30198163 30198163 single base substitution G C upstream_gene_variant COCA-CN 16 30198403 30198403 single base substitution G A downstream_gene_variant COCA-CN 16 30198403 30198403 single base substitution G A exon_variant COCA-CN 16 30198403 30198403 single base substitution G A synonymous_variant A124A 372G>A COCA-CN 16 30198403 30198403 single base substitution G A synonymous_variant A165A 495G>A COCA-CN 16 30198403 30198403 single base substitution G A synonymous_variant A201A 603G>A COCA-CN 16 30198403 30198403 single base substitution G A upstream_gene_variant COCA-CN 16 30198510 30198510 single base substitution G A downstream_gene_variant COCA-CN 16 30198510 30198510 single base substitution G A exon_variant COCA-CN 16 30198510 30198510 single base substitution G A missense_variant R160H 479G>A COCA-CN 16 30198510 30198510 single base substitution G A missense_variant R201H 602G>A COCA-CN 16 30198510 30198510 single base substitution G A upstream_gene_variant COCA-CN 16 30198525 30198525 single base substitution G A downstream_gene_variant COCA-CN 16 30198525 30198525 single base substitution G A exon_variant COCA-CN 16 30198525 30198525 single base substitution G A missense_variant R165H 494G>A COCA-CN 16 30198525 30198525 single base substitution G A missense_variant R206H 617G>A COCA-CN 16 30198525 30198525 single base substitution G A upstream_gene_variant ESAD-UK 16 30190394 30190394 single base substitution G A upstream_gene_variant ESAD-UK 16 30190763 30190763 single base substitution C G upstream_gene_variant ESAD-UK 16 30191333 30191333 single base substitution C T upstream_gene_variant ESAD-UK 16 30194189 30194189 single base substitution C A 5_prime_UTR_variant ESAD-UK 16 30194189 30194189 single base substitution C A upstream_gene_variant ESAD-UK 16 30201729 30201729 insertion of <=200bp - TATAA downstream_gene_variant GBM-US 16 30198720 30198720 single base substitution C T downstream_gene_variant GBM-US 16 30198720 30198720 single base substitution C T exon_variant GBM-US 16 30198720 30198720 single base substitution C T synonymous_variant H177H 531C>T GBM-US 16 30198720 30198720 single base substitution C T synonymous_variant H218H 654C>T GBM-US 16 30198720 30198720 single base substitution C T upstream_gene_variant KIRC-US 16 30199863 30199863 single base substitution G C downstream_gene_variant KIRC-US 16 30199863 30199863 single base substitution G C exon_variant KIRC-US 16 30199863 30199863 single base substitution G C intron_variant KIRC-US 16 30199863 30199863 single base substitution G C missense_variant R416T 1247G>C KIRP-US 16 30198546 30198546 insertion of <=200bp - GA downstream_gene_variant KIRP-US 16 30198546 30198546 insertion of <=200bp - GA splice_donor_variant KIRP-US 16 30198546 30198546 insertion of <=200bp - GA upstream_gene_variant LAML-KR 16 30203002 30203002 single base substitution C T downstream_gene_variant LICA-FR 16 30190792 30190792 single base substitution G T upstream_gene_variant LICA-FR 16 30199778 30199778 single base substitution C T downstream_gene_variant LICA-FR 16 30199778 30199778 single base substitution C T exon_variant LICA-FR 16 30199778 30199778 single base substitution C T intron_variant LICA-FR 16 30199778 30199778 single base substitution C T missense_variant L388F 1162C>T LINC-JP 16 30198090 30198090 single base substitution G T downstream_gene_variant LINC-JP 16 30198090 30198090 single base substitution G T exon_variant LINC-JP 16 30198090 30198090 single base substitution G T intron_variant LINC-JP 16 30198090 30198090 single base substitution G T upstream_gene_variant LINC-JP 16 30198169 30198169 single base substitution G A downstream_gene_variant LINC-JP 16 30198169 30198169 single base substitution G A exon_variant LINC-JP 16 30198169 30198169 single base substitution G A intron_variant LINC-JP 16 30198169 30198169 single base substitution G A synonymous_variant L118L 354G>A LINC-JP 16 30198169 30198169 single base substitution G A synonymous_variant L154L 462G>A LINC-JP 16 30198169 30198169 single base substitution G A synonymous_variant L77L 231G>A LINC-JP 16 30198169 30198169 single base substitution G A upstream_gene_variant LINC-JP 16 30199013 30199013 single base substitution G C downstream_gene_variant LINC-JP 16 30199013 30199013 single base substitution G C exon_variant LINC-JP 16 30199013 30199013 single base substitution G C intron_variant LINC-JP 16 30199013 30199013 single base substitution G C upstream_gene_variant LIRI-JP 16 30191255 30191255 single base substitution C T upstream_gene_variant LIRI-JP 16 30192536 30192536 single base substitution T G upstream_gene_variant LIRI-JP 16 30193548 30193548 single base substitution T C upstream_gene_variant LIRI-JP 16 30196833 30196833 single base substitution C T downstream_gene_variant LIRI-JP 16 30196833 30196833 single base substitution C T exon_variant LIRI-JP 16 30196833 30196833 single base substitution C T intron_variant LIRI-JP 16 30196833 30196833 single base substitution C T upstream_gene_variant LIRI-JP 16 30198538 30198538 single base substitution C A downstream_gene_variant LIRI-JP 16 30198538 30198538 single base substitution C A exon_variant LIRI-JP 16 30198538 30198538 single base substitution C A synonymous_variant V169V 507C>A LIRI-JP 16 30198538 30198538 single base substitution C A synonymous_variant V210V 630C>A LIRI-JP 16 30198538 30198538 single base substitution C A upstream_gene_variant LUSC-KR 16 30192287 30192287 single base substitution C A upstream_gene_variant LUSC-KR 16 30193324 30193324 single base substitution C A upstream_gene_variant LUSC-KR 16 30194605 30194605 single base substitution G A intron_variant LUSC-KR 16 30194605 30194605 single base substitution G A upstream_gene_variant LUSC-KR 16 30194834 30194834 single base substitution A G 5_prime_UTR_variant LUSC-KR 16 30194834 30194834 single base substitution A G intron_variant LUSC-KR 16 30194834 30194834 single base substitution A G upstream_gene_variant LUSC-KR 16 30194846 30194846 single base substitution G A 5_prime_UTR_variant LUSC-KR 16 30194846 30194846 single base substitution G A exon_variant LUSC-KR 16 30194846 30194846 single base substitution G A intron_variant LUSC-KR 16 30194846 30194846 single base substitution G A upstream_gene_variant LUSC-KR 16 30196538 30196538 single base substitution G T downstream_gene_variant LUSC-KR 16 30196538 30196538 single base substitution G T exon_variant LUSC-KR 16 30196538 30196538 single base substitution G T missense_variant R39L 116G>T LUSC-KR 16 30196538 30196538 single base substitution G T missense_variant R3L 8G>T LUSC-KR 16 30196538 30196538 single base substitution G T upstream_gene_variant LUSC-KR 16 30199579 30199579 single base substitution C T downstream_gene_variant LUSC-KR 16 30199579 30199579 single base substitution C T exon_variant LUSC-KR 16 30199579 30199579 single base substitution C T intron_variant LUSC-KR 16 30199584 30199584 single base substitution G A downstream_gene_variant LUSC-KR 16 30199584 30199584 single base substitution G A exon_variant LUSC-KR 16 30199584 30199584 single base substitution G A intron_variant LUSC-KR 16 30200562 30200562 single base substitution A G downstream_gene_variant MALY-DE 16 30195370 30195370 single base substitution G A intron_variant MALY-DE 16 30195370 30195370 single base substitution G A upstream_gene_variant MALY-DE 16 30195685 30195685 single base substitution C T exon_variant MALY-DE 16 30195685 30195685 single base substitution C T intron_variant MALY-DE 16 30195685 30195685 single base substitution C T upstream_gene_variant MALY-DE 16 30195790 30195790 single base substitution G A downstream_gene_variant MALY-DE 16 30195790 30195790 single base substitution G A intron_variant MALY-DE 16 30195790 30195790 single base substitution G A upstream_gene_variant MALY-DE 16 30196471 30196471 single base substitution C T downstream_gene_variant MALY-DE 16 30196471 30196471 single base substitution C T intron_variant MALY-DE 16 30196471 30196471 single base substitution C T upstream_gene_variant MALY-DE 16 30199013 30199013 single base substitution G C downstream_gene_variant MALY-DE 16 30199013 30199013 single base substitution G C exon_variant MALY-DE 16 30199013 30199013 single base substitution G C intron_variant MALY-DE 16 30199013 30199013 single base substitution G C upstream_gene_variant MALY-DE 16 30199388 30199388 single base substitution G T downstream_gene_variant MALY-DE 16 30199388 30199388 single base substitution G T exon_variant MALY-DE 16 30199388 30199388 single base substitution G T synonymous_variant V329V 987G>T MALY-DE 16 30199388 30199388 single base substitution G T upstream_gene_variant MELA-AU 16 30189614 30189614 single base substitution C T upstream_gene_variant MELA-AU 16 30189641 30189641 single base substitution C T upstream_gene_variant MELA-AU 16 30189681 30189681 single base substitution C T upstream_gene_variant MELA-AU 16 30189957 30189957 single base substitution C T upstream_gene_variant MELA-AU 16 30190100 30190100 single base substitution G A upstream_gene_variant MELA-AU 16 30190458 30190458 single base substitution G A upstream_gene_variant MELA-AU 16 30190464 30190464 single base substitution G A upstream_gene_variant MELA-AU 16 30190628 30190628 single base substitution C T upstream_gene_variant MELA-AU 16 30190879 30190879 single base substitution G A upstream_gene_variant MELA-AU 16 30190937 30190937 single base substitution C T upstream_gene_variant MELA-AU 16 30190980 30190980 single base substitution C T upstream_gene_variant MELA-AU 16 30191502 30191502 single base substitution C T upstream_gene_variant MELA-AU 16 30191686 30191686 single base substitution G A upstream_gene_variant MELA-AU 16 30191754 30191754 single base substitution G A upstream_gene_variant MELA-AU 16 30191755 30191756 multiple base substitution (>=2bp and <=200bp) AA TC upstream_gene_variant MELA-AU 16 30191887 30191887 single base substitution C T upstream_gene_variant MELA-AU 16 30192091 30192091 single base substitution C T upstream_gene_variant MELA-AU 16 30192297 30192298 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 30192380 30192380 single base substitution C T upstream_gene_variant MELA-AU 16 30192589 30192589 single base substitution G A upstream_gene_variant MELA-AU 16 30193260 30193260 single base substitution G A upstream_gene_variant MELA-AU 16 30193862 30193862 single base substitution C T upstream_gene_variant MELA-AU 16 30194055 30194055 single base substitution G A upstream_gene_variant MELA-AU 16 30194896 30194896 single base substitution C T 5_prime_UTR_variant MELA-AU 16 30194896 30194896 single base substitution C T exon_variant MELA-AU 16 30194896 30194896 single base substitution C T intron_variant MELA-AU 16 30194896 30194896 single base substitution C T upstream_gene_variant MELA-AU 16 30194992 30194992 single base substitution C T 5_prime_UTR_variant MELA-AU 16 30194992 30194992 single base substitution C T exon_variant MELA-AU 16 30194992 30194992 single base substitution C T intron_variant MELA-AU 16 30194992 30194992 single base substitution C T upstream_gene_variant MELA-AU 16 30195366 30195366 single base substitution G A intron_variant MELA-AU 16 30195366 30195366 single base substitution G A upstream_gene_variant MELA-AU 16 30195544 30195544 single base substitution C T exon_variant MELA-AU 16 30195544 30195544 single base substitution C T intron_variant MELA-AU 16 30195544 30195544 single base substitution C T splice_region_variant MELA-AU 16 30195544 30195544 single base substitution C T upstream_gene_variant MELA-AU 16 30195948 30195948 single base substitution G A downstream_gene_variant MELA-AU 16 30195948 30195948 single base substitution G A intron_variant MELA-AU 16 30195948 30195948 single base substitution G A upstream_gene_variant MELA-AU 16 30195958 30195958 single base substitution G A downstream_gene_variant MELA-AU 16 30195958 30195958 single base substitution G A intron_variant MELA-AU 16 30195958 30195958 single base substitution G A upstream_gene_variant MELA-AU 16 30196405 30196405 single base substitution G A downstream_gene_variant MELA-AU 16 30196405 30196405 single base substitution G A intron_variant MELA-AU 16 30196405 30196405 single base substitution G A upstream_gene_variant MELA-AU 16 30197361 30197361 single base substitution C T downstream_gene_variant MELA-AU 16 30197361 30197361 single base substitution C T exon_variant MELA-AU 16 30197361 30197361 single base substitution C T intron_variant MELA-AU 16 30197361 30197361 single base substitution C T upstream_gene_variant MELA-AU 16 30197752 30197753 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 30197752 30197753 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 16 30197752 30197753 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 30197752 30197753 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 30198142 30198142 single base substitution G A downstream_gene_variant MELA-AU 16 30198142 30198142 single base substitution G A exon_variant MELA-AU 16 30198142 30198142 single base substitution G A intron_variant MELA-AU 16 30198142 30198142 single base substitution G A stop_gained W109* 327G>A MELA-AU 16 30198142 30198142 single base substitution G A stop_gained W145* 435G>A MELA-AU 16 30198142 30198142 single base substitution G A stop_gained W68* 204G>A MELA-AU 16 30198142 30198142 single base substitution G A upstream_gene_variant MELA-AU 16 30198442 30198442 single base substitution G A downstream_gene_variant MELA-AU 16 30198442 30198442 single base substitution G A exon_variant MELA-AU 16 30198442 30198442 single base substitution G A synonymous_variant T137T 411G>A MELA-AU 16 30198442 30198442 single base substitution G A synonymous_variant T178T 534G>A MELA-AU 16 30198442 30198442 single base substitution G A synonymous_variant T214T 642G>A MELA-AU 16 30198442 30198442 single base substitution G A upstream_gene_variant MELA-AU 16 30198475 30198475 deletion of <=200bp C - downstream_gene_variant MELA-AU 16 30198475 30198475 deletion of <=200bp C - exon_variant MELA-AU 16 30198475 30198475 deletion of <=200bp C - frameshift_variant G148 MELA-AU 16 30198475 30198475 deletion of <=200bp C - frameshift_variant G189 MELA-AU 16 30198475 30198475 deletion of <=200bp C - upstream_gene_variant MELA-AU 16 30198547 30198547 single base substitution G A downstream_gene_variant MELA-AU 16 30198547 30198547 single base substitution G A intron_variant MELA-AU 16 30198547 30198547 single base substitution G A splice_region_variant MELA-AU 16 30198547 30198547 single base substitution G A upstream_gene_variant MELA-AU 16 30198725 30198725 single base substitution G A downstream_gene_variant MELA-AU 16 30198725 30198725 single base substitution G A exon_variant MELA-AU 16 30198725 30198725 single base substitution G A missense_variant G179E 536G>A MELA-AU 16 30198725 30198725 single base substitution G A missense_variant G220E 659G>A MELA-AU 16 30198725 30198725 single base substitution G A upstream_gene_variant MELA-AU 16 30198936 30198936 single base substitution G A downstream_gene_variant MELA-AU 16 30198936 30198936 single base substitution G A exon_variant MELA-AU 16 30198936 30198936 single base substitution G A intron_variant MELA-AU 16 30198936 30198936 single base substitution G A upstream_gene_variant MELA-AU 16 30199777 30199777 single base substitution C T downstream_gene_variant MELA-AU 16 30199777 30199777 single base substitution C T exon_variant MELA-AU 16 30199777 30199777 single base substitution C T intron_variant MELA-AU 16 30199777 30199777 single base substitution C T synonymous_variant P387P 1161C>T MELA-AU 16 30201733 30201733 single base substitution T A downstream_gene_variant ORCA-IN 16 30196884 30196884 single base substitution C A downstream_gene_variant ORCA-IN 16 30196884 30196884 single base substitution C A exon_variant ORCA-IN 16 30196884 30196884 single base substitution C A intron_variant ORCA-IN 16 30196884 30196884 single base substitution C A upstream_gene_variant OV-AU 16 30190562 30190562 single base substitution T C upstream_gene_variant OV-AU 16 30192882 30192882 single base substitution C T upstream_gene_variant OV-AU 16 30194291 30194291 single base substitution C T 5_prime_UTR_variant OV-AU 16 30194291 30194291 single base substitution C T upstream_gene_variant OV-AU 16 30199253 30199253 single base substitution C T downstream_gene_variant OV-AU 16 30199253 30199253 single base substitution C T exon_variant OV-AU 16 30199253 30199253 single base substitution C T intron_variant OV-AU 16 30199253 30199253 single base substitution C T upstream_gene_variant PACA-AU 16 30190249 30190249 single base substitution G A upstream_gene_variant PACA-AU 16 30195518 30195518 single base substitution C T intron_variant PACA-AU 16 30195518 30195518 single base substitution C T upstream_gene_variant PACA-AU 16 30197925 30197925 single base substitution C T downstream_gene_variant PACA-AU 16 30197925 30197925 single base substitution C T exon_variant PACA-AU 16 30197925 30197925 single base substitution C T intron_variant PACA-AU 16 30197925 30197925 single base substitution C T missense_variant R105C 313C>T PACA-AU 16 30197925 30197925 single base substitution C T missense_variant R69C 205C>T PACA-AU 16 30197925 30197925 single base substitution C T upstream_gene_variant PACA-AU 16 30198110 30198110 single base substitution G T downstream_gene_variant PACA-AU 16 30198110 30198110 single base substitution G T exon_variant PACA-AU 16 30198110 30198110 single base substitution G T intron_variant PACA-AU 16 30198110 30198110 single base substitution G T upstream_gene_variant PACA-CA 16 30189863 30189863 single base substitution A C upstream_gene_variant PACA-CA 16 30190503 30190503 deletion of <=200bp A - upstream_gene_variant PACA-CA 16 30193613 30193613 insertion of <=200bp - T upstream_gene_variant PACA-CA 16 30197544 30197544 insertion of <=200bp - C downstream_gene_variant PACA-CA 16 30197544 30197544 insertion of <=200bp - C exon_variant PACA-CA 16 30197544 30197544 insertion of <=200bp - C intron_variant PACA-CA 16 30197544 30197544 insertion of <=200bp - C upstream_gene_variant PACA-CA 16 30197939 30197939 single base substitution T C downstream_gene_variant PACA-CA 16 30197939 30197939 single base substitution T C exon_variant PACA-CA 16 30197939 30197939 single base substitution T C intron_variant PACA-CA 16 30197939 30197939 single base substitution T C synonymous_variant N109N 327T>C PACA-CA 16 30197939 30197939 single base substitution T C synonymous_variant N73N 219T>C PACA-CA 16 30197939 30197939 single base substitution T C upstream_gene_variant PACA-CA 16 30198691 30198691 single base substitution C T downstream_gene_variant PACA-CA 16 30198691 30198691 single base substitution C T intron_variant PACA-CA 16 30198691 30198691 single base substitution C T upstream_gene_variant PAEN-AU 16 30198878 30198878 single base substitution T G downstream_gene_variant PAEN-AU 16 30198878 30198878 single base substitution T G exon_variant PAEN-AU 16 30198878 30198878 single base substitution T G intron_variant PAEN-AU 16 30198878 30198878 single base substitution T G upstream_gene_variant PAEN-AU 16 30201609 30201610 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 16 30190356 30190356 single base substitution G A upstream_gene_variant PBCA-DE 16 30199122 30199122 single base substitution A T downstream_gene_variant PBCA-DE 16 30199122 30199122 single base substitution A T exon_variant PBCA-DE 16 30199122 30199122 single base substitution A T missense_variant D237V 710A>T PBCA-DE 16 30199122 30199122 single base substitution A T missense_variant D278V 833A>T PBCA-DE 16 30199122 30199122 single base substitution A T upstream_gene_variant PBCA-DE 16 30199176 30199176 single base substitution T G downstream_gene_variant PBCA-DE 16 30199176 30199176 single base substitution T G exon_variant PBCA-DE 16 30199176 30199176 single base substitution T G intron_variant PBCA-DE 16 30199176 30199176 single base substitution T G upstream_gene_variant PRAD-UK 16 30201615 30201616 deletion of <=200bp AA - downstream_gene_variant READ-US 16 30196692 30196692 single base substitution C T downstream_gene_variant READ-US 16 30196692 30196692 single base substitution C T exon_variant READ-US 16 30196692 30196692 single base substitution C T synonymous_variant S54S 162C>T READ-US 16 30196692 30196692 single base substitution C T synonymous_variant S90S 270C>T READ-US 16 30196692 30196692 single base substitution C T upstream_gene_variant SKCA-BR 16 30194880 30194880 single base substitution A C 5_prime_UTR_variant SKCA-BR 16 30194880 30194880 single base substitution A C exon_variant SKCA-BR 16 30194880 30194880 single base substitution A C intron_variant SKCA-BR 16 30194880 30194880 single base substitution A C upstream_gene_variant SKCA-BR 16 30197686 30197686 single base substitution T G downstream_gene_variant SKCA-BR 16 30197686 30197686 single base substitution T G exon_variant SKCA-BR 16 30197686 30197686 single base substitution T G intron_variant SKCA-BR 16 30197686 30197686 single base substitution T G upstream_gene_variant SKCA-BR 16 30201417 30201418 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 16 30201493 30201493 single base substitution T C downstream_gene_variant SKCA-BR 16 30201518 30201520 deletion of <=200bp AAT - downstream_gene_variant SKCA-BR 16 30201533 30201533 single base substitution A T downstream_gene_variant SKCA-BR 16 30202741 30202741 single base substitution T A downstream_gene_variant SKCM-US 16 30196587 30196587 single base substitution C A downstream_gene_variant SKCM-US 16 30196587 30196587 single base substitution C A exon_variant SKCM-US 16 30196587 30196587 single base substitution C A synonymous_variant A19A 57C>A SKCM-US 16 30196587 30196587 single base substitution C A synonymous_variant A55A 165C>A SKCM-US 16 30196587 30196587 single base substitution C A upstream_gene_variant SKCM-US 16 30198041 30198041 single base substitution G A downstream_gene_variant SKCM-US 16 30198041 30198041 single base substitution G A exon_variant SKCM-US 16 30198041 30198041 single base substitution G A intron_variant SKCM-US 16 30198041 30198041 single base substitution G A missense_variant M107I 321G>A SKCM-US 16 30198041 30198041 single base substitution G A missense_variant M143I 429G>A SKCM-US 16 30198041 30198041 single base substitution G A splice_region_variant SKCM-US 16 30198041 30198041 single base substitution G A upstream_gene_variant SKCM-US 16 30198142 30198142 single base substitution G A downstream_gene_variant SKCM-US 16 30198142 30198142 single base substitution G A exon_variant SKCM-US 16 30198142 30198142 single base substitution G A intron_variant SKCM-US 16 30198142 30198142 single base substitution G A stop_gained W109* 327G>A SKCM-US 16 30198142 30198142 single base substitution G A stop_gained W145* 435G>A SKCM-US 16 30198142 30198142 single base substitution G A stop_gained W68* 204G>A SKCM-US 16 30198142 30198142 single base substitution G A upstream_gene_variant SKCM-US 16 30198152 30198152 single base substitution G A downstream_gene_variant SKCM-US 16 30198152 30198152 single base substitution G A exon_variant SKCM-US 16 30198152 30198152 single base substitution G A intron_variant SKCM-US 16 30198152 30198152 single base substitution G A missense_variant D113N 337G>A SKCM-US 16 30198152 30198152 single base substitution G A missense_variant D149N 445G>A SKCM-US 16 30198152 30198152 single base substitution G A missense_variant D72N 214G>A SKCM-US 16 30198152 30198152 single base substitution G A upstream_gene_variant SKCM-US 16 30198725 30198725 single base substitution G A downstream_gene_variant SKCM-US 16 30198725 30198725 single base substitution G A exon_variant SKCM-US 16 30198725 30198725 single base substitution G A missense_variant G179E 536G>A SKCM-US 16 30198725 30198725 single base substitution G A missense_variant G220E 659G>A SKCM-US 16 30198725 30198725 single base substitution G A upstream_gene_variant SKCM-US 16 30199304 30199304 single base substitution C T downstream_gene_variant SKCM-US 16 30199304 30199304 single base substitution C T exon_variant SKCM-US 16 30199304 30199304 single base substitution C T synonymous_variant A301A 903C>T SKCM-US 16 30199304 30199304 single base substitution C T upstream_gene_variant SKCM-US 16 30199684 30199684 single base substitution G A downstream_gene_variant SKCM-US 16 30199684 30199684 single base substitution G A exon_variant SKCM-US 16 30199684 30199684 single base substitution G A intron_variant SKCM-US 16 30199684 30199684 single base substitution G A splice_region_variant SKCM-US 16 30199825 30199825 single base substitution G A downstream_gene_variant SKCM-US 16 30199825 30199825 single base substitution G A exon_variant SKCM-US 16 30199825 30199825 single base substitution G A intron_variant SKCM-US 16 30199825 30199825 single base substitution G A synonymous_variant E403E 1209G>A STAD-US 16 30196549 30196549 single base substitution C T downstream_gene_variant STAD-US 16 30196549 30196549 single base substitution C T exon_variant STAD-US 16 30196549 30196549 single base substitution C T missense_variant R43C 127C>T STAD-US 16 30196549 30196549 single base substitution C T missense_variant R7C 19C>T STAD-US 16 30196549 30196549 single base substitution C T upstream_gene_variant STAD-US 16 30198029 30198029 single base substitution C T downstream_gene_variant STAD-US 16 30198029 30198029 single base substitution C T exon_variant STAD-US 16 30198029 30198029 single base substitution C T intron_variant STAD-US 16 30198029 30198029 single base substitution C T synonymous_variant D103D 309C>T STAD-US 16 30198029 30198029 single base substitution C T synonymous_variant D139D 417C>T STAD-US 16 30198029 30198029 single base substitution C T upstream_gene_variant STAD-US 16 30198155 30198155 deletion of <=200bp G - downstream_gene_variant STAD-US 16 30198155 30198155 deletion of <=200bp G - exon_variant STAD-US 16 30198155 30198155 deletion of <=200bp G - frameshift_variant G114 STAD-US 16 30198155 30198155 deletion of <=200bp G - frameshift_variant G150 STAD-US 16 30198155 30198155 deletion of <=200bp G - frameshift_variant G73 STAD-US 16 30198155 30198155 deletion of <=200bp G - intron_variant STAD-US 16 30198155 30198155 deletion of <=200bp G - upstream_gene_variant STAD-US 16 30198388 30198388 single base substitution C T downstream_gene_variant STAD-US 16 30198388 30198388 single base substitution C T exon_variant STAD-US 16 30198388 30198388 single base substitution C T synonymous_variant D119D 357C>T STAD-US 16 30198388 30198388 single base substitution C T synonymous_variant D160D 480C>T STAD-US 16 30198388 30198388 single base substitution C T synonymous_variant D196D 588C>T STAD-US 16 30198388 30198388 single base substitution C T upstream_gene_variant STAD-US 16 30198745 30198745 single base substitution G A downstream_gene_variant STAD-US 16 30198745 30198745 single base substitution G A exon_variant STAD-US 16 30198745 30198745 single base substitution G A missense_variant V186M 556G>A STAD-US 16 30198745 30198745 single base substitution G A missense_variant V227M 679G>A STAD-US 16 30198745 30198745 single base substitution G A upstream_gene_variant STAD-US 16 30199292 30199292 single base substitution C T downstream_gene_variant STAD-US 16 30199292 30199292 single base substitution C T exon_variant STAD-US 16 30199292 30199292 single base substitution C T synonymous_variant I297I 891C>T STAD-US 16 30199292 30199292 single base substitution C T upstream_gene_variant STAD-US 16 30199327 30199327 single base substitution T C downstream_gene_variant STAD-US 16 30199327 30199327 single base substitution T C exon_variant STAD-US 16 30199327 30199327 single base substitution T C missense_variant M309T 926T>C STAD-US 16 30199327 30199327 single base substitution T C upstream_gene_variant STAD-US 16 30199690 30199690 single base substitution G A downstream_gene_variant STAD-US 16 30199690 30199690 single base substitution G A exon_variant STAD-US 16 30199690 30199690 single base substitution G A intron_variant STAD-US 16 30199690 30199690 single base substitution G A synonymous_variant L358L 1074G>A STAD-US 16 30199729 30199729 single base substitution C A downstream_gene_variant STAD-US 16 30199729 30199729 single base substitution C A exon_variant STAD-US 16 30199729 30199729 single base substitution C A intron_variant STAD-US 16 30199729 30199729 single base substitution C A missense_variant D371E 1113C>A STAD-US 16 30199821 30199821 single base substitution G A downstream_gene_variant STAD-US 16 30199821 30199821 single base substitution G A exon_variant STAD-US 16 30199821 30199821 single base substitution G A intron_variant STAD-US 16 30199821 30199821 single base substitution G A missense_variant R402Q 1205G>A THCA-SA 16 30198151 30198151 single base substitution A G downstream_gene_variant THCA-SA 16 30198151 30198151 single base substitution A G exon_variant THCA-SA 16 30198151 30198151 single base substitution A G intron_variant THCA-SA 16 30198151 30198151 single base substitution A G synonymous_variant P112P 336A>G THCA-SA 16 30198151 30198151 single base substitution A G synonymous_variant P148P 444A>G THCA-SA 16 30198151 30198151 single base substitution A G synonymous_variant P71P 213A>G THCA-SA 16 30198151 30198151 single base substitution A G upstream_gene_variant UCEC-US 16 30197941 30197941 single base substitution C T downstream_gene_variant UCEC-US 16 30197941 30197941 single base substitution C T exon_variant UCEC-US 16 30197941 30197941 single base substitution C T intron_variant UCEC-US 16 30197941 30197941 single base substitution C T missense_variant A110V 329C>T UCEC-US 16 30197941 30197941 single base substitution C T missense_variant A74V 221C>T UCEC-US 16 30197941 30197941 single base substitution C T upstream_gene_variant UCEC-US 16 30198006 30198006 single base substitution G A downstream_gene_variant UCEC-US 16 30198006 30198006 single base substitution G A exon_variant UCEC-US 16 30198006 30198006 single base substitution G A intron_variant UCEC-US 16 30198006 30198006 single base substitution G A missense_variant V132I 394G>A UCEC-US 16 30198006 30198006 single base substitution G A missense_variant V96I 286G>A UCEC-US 16 30198006 30198006 single base substitution G A upstream_gene_variant UCEC-US 16 30198370 30198370 single base substitution C T downstream_gene_variant UCEC-US 16 30198370 30198370 single base substitution C T exon_variant UCEC-US 16 30198370 30198370 single base substitution C T synonymous_variant N113N 339C>T UCEC-US 16 30198370 30198370 single base substitution C T synonymous_variant N154N 462C>T UCEC-US 16 30198370 30198370 single base substitution C T synonymous_variant N190N 570C>T UCEC-US 16 30198370 30198370 single base substitution C T upstream_gene_variant UCEC-US 16 30198425 30198425 single base substitution G T downstream_gene_variant UCEC-US 16 30198425 30198425 single base substitution G T exon_variant UCEC-US 16 30198425 30198425 single base substitution G T stop_gained E132* 394G>T UCEC-US 16 30198425 30198425 single base substitution G T stop_gained E173* 517G>T UCEC-US 16 30198425 30198425 single base substitution G T stop_gained E209* 625G>T UCEC-US 16 30198425 30198425 single base substitution G T upstream_gene_variant UCEC-US 16 30199132 30199132 single base substitution C T downstream_gene_variant UCEC-US 16 30199132 30199132 single base substitution C T exon_variant UCEC-US 16 30199132 30199132 single base substitution C T synonymous_variant I240I 720C>T UCEC-US 16 30199132 30199132 single base substitution C T synonymous_variant I281I 843C>T UCEC-US 16 30199132 30199132 single base substitution C T upstream_gene_variant UCEC-US 16 30199747 30199747 single base substitution G T downstream_gene_variant UCEC-US 16 30199747 30199747 single base substitution G T exon_variant UCEC-US 16 30199747 30199747 single base substitution G T intron_variant UCEC-US 16 30199747 30199747 single base substitution G T missense_variant E377D 1131G>T UCEC-US 16 30199763 30199763 single base substitution C T downstream_gene_variant UCEC-US 16 30199763 30199763 single base substitution C T exon_variant UCEC-US 16 30199763 30199763 single base substitution C T intron_variant UCEC-US 16 30199763 30199763 single base substitution C T missense_variant R383W 1147C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A059-01 COSM969802 c.1147C>T p.R383W Substitution - Missense 16:30188442-30188442 + TCGA-19-1390-01 COSM3111891 c.654C>T p.H218H Substitution - coding silent 16:30187399-30187399 + LUAD-NYU947 COSM377037 c.23C>T p.S8F Substitution - Missense 16:30185232-30185232 + TCGA-CJ-4905-01 COSM471622 c.1247G>C p.R416T Substitution - Missense 16:30188542-30188542 + CHC892T COSM4793570 c.1162C>T p.L388F Substitution - Missense 16:30188457-30188457 + TCGA-D3-A3C6-06 COSM3508766 c.903C>T p.A301A Substitution - coding silent 16:30187983-30187983 + T3498 COSM4674221 c.475T>C p.W159R Substitution - Missense 16:30187062-30187062 + TCGA-D1-A103-01 COSM969794 c.462C>T p.N154N Substitution - coding silent 16:30187049-30187049 + OV207 COSM252452 c.8G>A p.R3Q Substitution - Missense 16:30185217-30185217 + T613 COSM4674225 c.878G>A p.R293Q Substitution - Missense 16:30187958-30187958 + Pat_45_B COSM5850710 c.1193C>T p.P398L Substitution - Missense 16:30188488-30188488 + 5-RS COSM1731724 c.896C>T p.S299F Substitution - Missense 16:30187976-30187976 + TCGA-BR-4362-01 COSM4060097 c.1074G>A p.L358L Substitution - coding silent 16:30188369-30188369 + pfg156T COSM4751954 c.1211T>A p.L404Q Substitution - Missense 16:30188506-30188506 + YUROL COSM1709064 c.787G>A p.E263K Substitution - Missense 16:30187755-30187755 + TCGA-D1-A103-01 COSM969798 c.843C>T p.I281I Substitution - coding silent 16:30187811-30187811 + TCGA-B4-5838-01 COSM1493636 c.728G>A p.S243N Substitution - Missense 16:30187473-30187473 + SJMB031 COSM255395 c.418C>A p.H140N Substitution - Missense 16:30186912-30186912 + SJMB031 COSM255395 c.418C>A p.H140N Substitution - Missense 16:30186912-30186912 + TCGA-HU-A4GQ-01 COSM4060091 c.19C>T p.R7C Substitution - Missense 16:30185228-30185228 + 392 COSM3721331 c.336A>G p.P112P Substitution - coding silent 16:30186830-30186830 + TCGA-EK-A2H0-01 COSM4819089 c.348G>C p.L116L Substitution - coding silent 16:30186842-30186842 + J54_T COSM3957455 c.8G>T p.R3L Substitution - Missense 16:30185217-30185217 + T3306 COSM4674226 c.975T>A p.R325R Substitution - coding silent 16:30188055-30188055 + TCGA-EE-A20C-06 COSM3508763 c.327G>A p.W109* Substitution - Nonsense 16:30186821-30186821 + PTC-28C COSM4128969 c.1003G>T p.A335S Substitution - Missense 16:30188083-30188083 + 1910786 COSM1293122 c.397C>T p.R133C Substitution - Missense 16:30186891-30186891 + DLD1 COSM1678997 c.703C>A p.L235M Substitution - Missense 16:30187448-30187448 + GC_357T-GC_357N COSM4774198 c.90C>A p.V30V Substitution - coding silent 16:30185299-30185299 + 1517_PT COSM5754838 c.1028G>A p.R343Q Substitution - Missense 16:30188212-30188212 + pfg272T COSM4746877 c.126delC p.N43fs*7 Deletion - Frameshift 16:30185335-30185335 + T2269 COSM4674224 c.852C>T p.L284L Substitution - coding silent 16:30187820-30187820 + E56 COSM1717599 c.481G>A p.V161M Substitution - Missense 16:30187068-30187068 + LS411 COSM3111884 c.229G>A p.V77I Substitution - Missense 16:30186628-30186628 + HCT15 COSM1678997 c.703C>A p.L235M Substitution - Missense 16:30187448-30187448 + T263 COSM4674220 c.87C>T p.R29R Substitution - coding silent 16:30185296-30185296 + AOCS-056-1-X COSM3948461 c.862-10C>T p.? Unknown 16:30187932-30187932 + cSCCP2 COSM137639 c.166G>A p.G56R Substitution - Missense 16:30185375-30185375 + TCGA-CG-5717-01 COSM4060095 c.891C>T p.I297I Substitution - coding silent 16:30187971-30187971 + HX34T COSM3706995 c.354G>A p.L118L Substitution - coding silent 16:30186848-30186848 + TCGA-B2-4098-01 COSM471621 c.587G>A p.R196H Substitution - Missense 16:30187174-30187174 + TCGA-CG-5721-01 COSM4060096 c.926T>C p.M309T Substitution - Missense 16:30188006-30188006 + PCSI_0268_Pa_P_526 COSM4961696 c.219T>C p.N73N Substitution - coding silent 16:30186618-30186618 + TCGA-CH-5739-01 COSM3672223 c.272C>A p.P91Q Substitution - Missense 16:30186671-30186671 + 8057783 COSM3387371 c.205C>T p.R69C Substitution - Missense 16:30186604-30186604 + TCGA-EB-A4IS-01 COSM3508764 c.337G>A p.D113N Substitution - Missense 16:30186831-30186831 + BD14T COSM5517210 c.487A>G p.T163A Substitution - Missense 16:30187074-30187074 + Pat_28_B COSM5148832 c.62C>T p.A21V Substitution - Missense 16:30185271-30185271 + TCGA-AP-A0LM-01 COSM969800 c.1131G>T p.E377D Substitution - Missense 16:30188426-30188426 + sysucc-274T COSM1678996 c.602G>A p.R201H Substitution - Missense 16:30187189-30187189 + TCGA-EI-6917-01 COSM1377341 c.162C>T p.S54S Substitution - coding silent 16:30185371-30185371 + YUMER COSM1709064 c.787G>A p.E263K Substitution - Missense 16:30187755-30187755 + ESCC_81 COSM5635873 c.947A>T p.Q316L Substitution - Missense 16:30188027-30188027 + 66 COSM3111881 c.163G>A p.G55R Substitution - Missense 16:30185372-30185372 + TCGA-BT-A20R-01 COSM1301858 c.1092C>A p.Y364* Substitution - Nonsense 16:30188387-30188387 + TCGA-B5-A11E-01 COSM969796 c.517G>T p.E173* Substitution - Nonsense 16:30187104-30187104 + TCGA-GN-A266-06 COSM3508767 c.1068G>A p.S356S Substitution - coding silent 16:30188363-30188363 + S02293 COSM5688457 c.733C>A p.R245R Substitution - coding silent 16:30187478-30187478 + 425 COSM4432720 c.1189G>A p.V397I Substitution - Missense 16:30188484-30188484 + PD6351a COSM1238584 c.597C>T p.R199R Substitution - coding silent 16:30187184-30187184 + S02382 COSM5697819 c.595C>A p.R199S Substitution - Missense 16:30187182-30187182 + pfg030T COSM4746878 c.281_283delACA p.N95delN Deletion - In frame 16:30186680-30186682 + 18195 COSM1301859 c.1252G>A p.A418T Substitution - Missense 16:30188547-30188547 + RK005_C COSM1629868 c.630C>A p.V210V Substitution - coding silent 16:30187217-30187217 + TCGA-EE-A184-06 COSM3508762 c.57C>A p.A19A Substitution - coding silent 16:30185266-30185266 + TCGA-BH-A1FU-01 COSM3817780 c.337G>C p.D113H Substitution - Missense 16:30186831-30186831 + ESO-859 COSM1238584 c.597C>T p.R199R Substitution - coding silent 16:30187184-30187184 + sysucc-783T COSM5484011 c.617G>A p.R206H Substitution - Missense 16:30187204-30187204 + tumor_4189200 COSM3356822 c.987G>T p.V329V Substitution - coding silent 16:30188067-30188067 + TCGA-BR-7703-01 COSM4060094 c.679G>A p.V227M Substitution - Missense 16:30187424-30187424 + T368 COSM4674223 c.844G>A p.V282I Substitution - Missense 16:30187812-30187812 + T3658 COSM4674222 c.842T>C p.I281T Substitution - Missense 16:30187810-30187810 + TCGA-CD-8531-01 COSM4060098 c.1113C>A p.D371E Substitution - Missense 16:30188408-30188408 + CSCC-27-T COSM4559025 c.789G>A p.E263E Substitution - coding silent 16:30187757-30187757 + ESO-159 COSM1248982 c.393C>A p.T131T Substitution - coding silent 16:30186887-30186887 + PTC-10C COSM3721331 c.336A>G p.P112P Substitution - coding silent 16:30186830-30186830 + TCGA-QB-A6FS-06 COSM3888395 c.321G>A p.M107I Substitution - Missense 16:30186720-30186720 + RK005_C01 COSM1629868 c.630C>A p.V210V Substitution - coding silent 16:30187217-30187217 + TCGA-BR-8487-01 COSM4060093 c.480C>T p.D160D Substitution - coding silent 16:30187067-30187067 + sysucc-834T COSM5485789 c.495G>A p.A165A Substitution - coding silent 16:30187082-30187082 + SE2 COSM1165718 c.1140G>A p.L380L Substitution - coding silent 16:30188435-30188435 + SNUH_G16_S1 COSM3679778 c.1065+9C>T p.? Unknown 16:30188258-30188258 + ESO-859 COSM1238583 c.534G>A p.T178T Substitution - coding silent 16:30187121-30187121 + TCGA-FW-A3R5-06 COSM3888396 c.1209G>A p.E403E Substitution - coding silent 16:30188504-30188504 + TCGA-BR-4201-01 COSM4060099 c.1205G>A p.R402Q Substitution - Missense 16:30188500-30188500 + CHEWS025 COSM4578944 c.96G>T p.Q32H Substitution - Missense 16:30185305-30185305 + TCGA-IP-7968-01 COSM4060092 c.309C>T p.D103D Substitution - coding silent 16:30186708-30186708 + TCGA-D1-A17Q-01 COSM969790 c.221C>T p.A74V Substitution - Missense 16:30186620-30186620 + LUAD-F00089 COSM339633 c.653A>T p.H218L Substitution - Missense 16:30187398-30187398 + TCGA-BR-8360-01 COSM4060099 c.1205G>A p.R402Q Substitution - Missense 16:30188500-30188500 + CHC892T COSM4793570 c.1162C>T p.L388F Substitution - Missense 16:30188457-30188457 + YUDUTY COSM1709065 c.1106_1107GG>AA p.G369E Substitution - Missense 16:30188401-30188402 + HCT-15 COSM1678997 c.703C>A p.L235M Substitution - Missense 16:30187448-30187448 + MOLT-4 COSM1678995 c.35G>A p.R12H Substitution - Missense 16:30185244-30185244 + TCGA-E5-A2PC-01 COSM1301859 c.1252G>A p.A418T Substitution - Missense 16:30188547-30188547 + TCGA-EE-A3J5-06 COSM3508765 c.659G>A p.G220E Substitution - Missense 16:30187404-30187404 + TCGA-D1-A103-01 COSM969792 c.286G>A p.V96I Substitution - Missense 16:30186685-30186685 + S02382 COSM5697820 c.773C>A p.P258Q Substitution - Missense 16:30187741-30187741 + MOLT-4 COSM1678996 c.602G>A p.R201H Substitution - Missense 16:30187189-30187189 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.415067 16p11.2 605000 2422519|CGAP|BC110374|A/G|coding|Pro112Pro|469|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Nonsense p.Y364* c.1092C>A 16 30199708 BLCA C A Synonymous p.A19A c.57C>A 16 30196587 CM C A Synonymous p.T131T c.393C>A 16 30198208 ESCA C A Synonymous p.V210V c.630C>A 16 30198538 HC C G Missense p.F337L c.1011C>G 16 30199516 HNSC C T IntronicSNV . c.198+105C>T 16 30196833 HC C T IntronicSNV . c.199-85C>T 16 30197834 CM C T Missense p.R402W c.1204C>T 16 30199820 HNSC C T Synonymous p.A301A c.903C>T 16 30199304 CM C T Synonymous p.H218H c.654C>T 16 30198720 GBM C T Synonymous p.H341H c.1023C>T 16 30199528 STAD C T Synonymous p.I297I c.891C>T 16 30199292 STAD C T Synonymous p.N95N c.285C>T 16 30198005 LUAD C T Synonymous p.R199R c.597C>T 16 30198505 ESCA G A IntronicSNV . c.757-35G>A 16 30199011 CM G A Missense p.A418T c.1252G>A 16 30199868 BLCA G A Missense p.D384N c.1150G>A 16 30199766 LUAD G A Missense p.G220E c.659G>A 16 30198725 CM G A Missense p.G386E c.1157G>A 16 30199773 CM G A Missense p.R196H c.587G>A 16 30198495 RCCC G A Missense p.R402Q c.1205G>A 16 30199821 STAD G A Missense p.V146M c.436G>A 16 30198251 CM G A Nonsense p.W109* c.327G>A 16 30198142 CM G A Synonymous p.K20K c.60G>A 16 30196590 CM G A Synonymous p.T178T c.534G>A 16 30198442 ESCA G C Missense p.R416T c.1247G>C 16 30199863 RCCC G T Synonymous p.V329V c.987G>T 16 30199388 DLBCL T C Missense p.V174A c.521T>C 16 30198429 LUAD