Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 6 13977385 13977385 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr6:13977385C>G c.35C>G c.(34-36)tCt>tGt p.S12C BLCA 6 13977507 13977507 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 g.chr6:13977507G>C c.157G>C c.(157-159)Gac>Cac p.D53H BLCA 6 13977520 13977520 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 g.chr6:13977520C>T c.170C>T c.(169-171)tCc>tTc p.S57F BRCA 6 13977498 13977498 + Missense_Mutation SNP A A C TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 g.chr6:13977498A>C c.148A>C c.(148-150)Aag>Cag p.K50Q BRCA 6 13977576 13977576 + Missense_Mutation SNP G G A TCGA-E9-A22B-01A-11D-A159-09 TCGA-E9-A22B-10A-01D-A159-09 g.chr6:13977576G>A c.226G>A c.(226-228)Gat>Aat p.D76N BRCA 6 13977596 13977596 + Silent SNP C C G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 g.chr6:13977596C>G c.246C>G c.(244-246)ccC>ccG p.P82P BRCA 6 13977702 13977702 + Missense_Mutation SNP C C G TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr6:13977702C>G c.352C>G c.(352-354)Ctg>Gtg p.L118V BRCA 6 13977923 13977923 + Missense_Mutation SNP G G T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 g.chr6:13977923G>T c.573G>T c.(571-573)ttG>ttT p.L191F BRCA 6 13977941 13977941 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:13977941A>C c.591A>C c.(589-591)ttA>ttC p.L197F BRCA 6 13978083 13978083 + Missense_Mutation SNP C C A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr6:13978083C>A c.733C>A c.(733-735)Cct>Act p.P245T COAD 6 13977386 13977386 + Silent SNP T T A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:13977386T>A c.36T>A c.(34-36)tcT>tcA p.S12S COAD 6 13977427 13977427 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:13977427G>A c.77G>A c.(76-78)cGa>cAa p.R26Q COAD 6 13977478 13977478 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:13977478T>C c.128T>C c.(127-129)gTt>gCt p.V43A COAD 6 13977478 13977478 + Missense_Mutation SNP T T C TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr6:13977478T>C c.128T>C c.(127-129)gTt>gCt p.V43A COAD 6 13977479 13977479 + Silent SNP T T C TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr6:13977479T>C c.129T>C c.(127-129)gtT>gtC p.V43V COAD 6 13977479 13977479 + Silent SNP T T C TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr6:13977479T>C c.129T>C c.(127-129)gtT>gtC p.V43V COAD 6 13977522 13977522 + Missense_Mutation SNP C C T TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr6:13977522C>T c.172C>T c.(172-174)Cca>Tca p.P58S COAD 6 13977523 13977523 + Missense_Mutation SNP C C A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr6:13977523C>A c.173C>A c.(172-174)cCa>cAa p.P58Q COAD 6 13977523 13977523 + Missense_Mutation SNP C C A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr6:13977523C>A c.173C>A c.(172-174)cCa>cAa p.P58Q COAD 6 13977523 13977523 + Missense_Mutation SNP C C A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr6:13977523C>A c.173C>A c.(172-174)cCa>cAa p.P58Q COAD 6 13977524 13977524 + Silent SNP A A G TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr6:13977524A>G c.174A>G c.(172-174)ccA>ccG p.P58P COAD 6 13977524 13977524 + Silent SNP A A G TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr6:13977524A>G c.174A>G c.(172-174)ccA>ccG p.P58P COAD 6 13977524 13977524 + Silent SNP A A G TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr6:13977524A>G c.174A>G c.(172-174)ccA>ccG p.P58P COAD 6 13977543 13977543 + Missense_Mutation SNP C C T TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr6:13977543C>T c.193C>T c.(193-195)Cct>Tct p.P65S COAD 6 13977651 13977651 + Missense_Mutation SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:13977651C>A c.301C>A c.(301-303)Ctg>Atg p.L101M COAD 6 13977722 13977722 + Silent SNP G G A TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr6:13977722G>A c.372G>A c.(370-372)acG>acA p.T124T COAD 6 13977776 13977776 + Silent SNP G G A TCGA-AA-3530-01A-01W-0995-10 TCGA-AA-3530-10A-01W-0995-10 g.chr6:13977776G>A c.426G>A c.(424-426)ccG>ccA p.P142P COAD 6 13978020 13978020 + Missense_Mutation SNP G G A TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr6:13978020G>A c.670G>A c.(670-672)Gtt>Att p.V224I COAD 6 13978054 13978054 + Missense_Mutation SNP T T C TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr6:13978054T>C c.704T>C c.(703-705)gTt>gCt p.V235A COAD 6 13978054 13978054 + Missense_Mutation SNP T T C TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr6:13978054T>C c.704T>C c.(703-705)gTt>gCt p.V235A COAD 6 13978054 13978054 + Missense_Mutation SNP T T C TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr6:13978054T>C c.704T>C c.(703-705)gTt>gCt p.V235A COADREAD 6 13977386 13977386 + Silent SNP T T A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:13977386T>A c.36T>A c.(34-36)tcT>tcA p.S12S COADREAD 6 13977427 13977427 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:13977427G>A c.77G>A c.(76-78)cGa>cAa p.R26Q COADREAD 6 13977478 13977478 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:13977478T>C c.128T>C c.(127-129)gTt>gCt p.V43A COADREAD 6 13977478 13977478 + Missense_Mutation SNP T T C TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr6:13977478T>C c.128T>C c.(127-129)gTt>gCt p.V43A COADREAD 6 13977479 13977479 + Silent SNP T T C TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr6:13977479T>C c.129T>C c.(127-129)gtT>gtC p.V43V COADREAD 6 13977479 13977479 + Silent SNP T T C TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr6:13977479T>C c.129T>C c.(127-129)gtT>gtC p.V43V COADREAD 6 13977507 13977507 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:13977507G>T c.157G>T c.(157-159)Gac>Tac p.D53Y COADREAD 6 13977522 13977522 + Missense_Mutation SNP C C T TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr6:13977522C>T c.172C>T c.(172-174)Cca>Tca p.P58S COADREAD 6 13977523 13977523 + Missense_Mutation SNP C C A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr6:13977523C>A c.173C>A c.(172-174)cCa>cAa p.P58Q COADREAD 6 13977523 13977523 + Missense_Mutation SNP C C A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr6:13977523C>A c.173C>A c.(172-174)cCa>cAa p.P58Q COADREAD 6 13977523 13977523 + Missense_Mutation SNP C C A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr6:13977523C>A c.173C>A c.(172-174)cCa>cAa p.P58Q COADREAD 6 13977523 13977523 + Missense_Mutation SNP C C T TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr6:13977523C>T c.173C>T c.(172-174)cCa>cTa p.P58L COADREAD 6 13977524 13977524 + Silent SNP A A G TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr6:13977524A>G c.174A>G c.(172-174)ccA>ccG p.P58P COADREAD 6 13977524 13977524 + Silent SNP A A G TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr6:13977524A>G c.174A>G c.(172-174)ccA>ccG p.P58P COADREAD 6 13977524 13977524 + Silent SNP A A G TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr6:13977524A>G c.174A>G c.(172-174)ccA>ccG p.P58P COADREAD 6 13977543 13977543 + Missense_Mutation SNP C C T TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr6:13977543C>T c.193C>T c.(193-195)Cct>Tct p.P65S COADREAD 6 13977651 13977651 + Missense_Mutation SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:13977651C>A c.301C>A c.(301-303)Ctg>Atg p.L101M COADREAD 6 13977722 13977722 + Silent SNP G G A TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr6:13977722G>A c.372G>A c.(370-372)acG>acA p.T124T COADREAD 6 13977776 13977776 + Silent SNP G G A TCGA-AA-3530-01A-01W-0995-10 TCGA-AA-3530-10A-01W-0995-10 g.chr6:13977776G>A c.426G>A c.(424-426)ccG>ccA p.P142P COADREAD 6 13978020 13978020 + Missense_Mutation SNP G G A TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr6:13978020G>A c.670G>A c.(670-672)Gtt>Att p.V224I COADREAD 6 13978054 13978054 + Missense_Mutation SNP T T C TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr6:13978054T>C c.704T>C c.(703-705)gTt>gCt p.V235A COADREAD 6 13978054 13978054 + Missense_Mutation SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr6:13978054T>C c.704T>C c.(703-705)gTt>gCt p.V235A COADREAD 6 13978054 13978054 + Missense_Mutation SNP T T C TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr6:13978054T>C c.704T>C c.(703-705)gTt>gCt p.V235A COADREAD 6 13978054 13978054 + Missense_Mutation SNP T T C TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr6:13978054T>C c.704T>C c.(703-705)gTt>gCt p.V235A HNSC 6 13977405 13977405 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr6:13977405G>C c.55G>C c.(55-57)Gag>Cag p.E19Q HNSC 6 13977531 13977531 + Missense_Mutation SNP G G T TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr6:13977531G>T c.181G>T c.(181-183)Gtc>Ttc p.V61F HNSC 6 13977639 13977639 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr6:13977639G>A c.289G>A c.(289-291)Ggg>Agg p.G97R HNSC 6 13978077 13978077 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 g.chr6:13978077A>G c.727A>G c.(727-729)Atg>Gtg p.M243V LIHC 6 13977395 13977395 + Silent SNP T T C TCGA-CC-5263-01A-01D-A12Z-10 TCGA-CC-5263-10B-01D-A12Z-10 g.chr6:13977395T>C c.45T>C c.(43-45)tcT>tcC p.S15S LUAD 6 13977460 13977460 + Missense_Mutation SNP T T G TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr6:13977460T>G c.110T>G c.(109-111)cTg>cGg p.L37R LUAD 6 13977461 13977461 + Silent SNP G G T TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr6:13977461G>T c.111G>T c.(109-111)ctG>ctT p.L37L LUAD 6 13977560 13977560 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr6:13977560G>T c.210G>T c.(208-210)gaG>gaT p.E70D LUAD 6 13977775 13977775 + Missense_Mutation SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr6:13977775C>A c.425C>A c.(424-426)cCg>cAg p.P142Q LUSC 6 13977368 13977368 + Silent SNP T T G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr6:13977368T>G c.18T>G c.(16-18)ccT>ccG p.P6P LUSC 6 13977868 13977868 + Missense_Mutation SNP G G A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr6:13977868G>A c.518G>A c.(517-519)tGc>tAc p.C173Y OV 6 13978055 13978055 + Silent SNP T T C TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 g.chr6:13978055T>C c.705T>C c.(703-705)gtT>gtC p.V235V READ 6 13977507 13977507 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:13977507G>T c.157G>T c.(157-159)Gac>Tac p.D53Y READ 6 13977523 13977523 + Missense_Mutation SNP C C T TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr6:13977523C>T c.173C>T c.(172-174)cCa>cTa p.P58L READ 6 13978054 13978054 + Missense_Mutation SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr6:13978054T>C c.704T>C c.(703-705)gTt>gCt p.V235A SKCM 6 13977475 13977475 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr6:13977475G>A c.125G>A c.(124-126)aGg>aAg p.R42K SKCM 6 13977476 13977476 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr6:13977476G>A c.126G>A c.(124-126)agG>agA p.R42R SKCM 6 13977521 13977521 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr6:13977521C>T c.171C>T c.(169-171)tcC>tcT p.S57S SKCM 6 13977612 13977612 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:13977612C>T c.262C>T c.(262-264)Ctt>Ttt p.L88F SKCM 6 13977773 13977773 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr6:13977773C>T c.423C>T c.(421-423)tcC>tcT p.S141S SKCM 6 13977949 13977949 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:13977949G>A c.599G>A c.(598-600)gGa>gAa p.G200E SKCM 6 13977949 13977949 + Missense_Mutation SNP G G A TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr6:13977949G>A c.599G>A c.(598-600)gGa>gAa p.G200E SKCM 6 13978059 13978059 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr6:13978059C>T c.709C>T c.(709-711)Cat>Tat p.H237Y

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 6 13977385 13977385 single base substitution C G missense_variant S12C 35C>G BLCA-US 6 13977507 13977507 single base substitution G C downstream_gene_variant BLCA-US 6 13977507 13977507 single base substitution G C missense_variant D53H 157G>C BOCA-FR 6 13980798 13980798 single base substitution A G downstream_gene_variant BRCA-EU 6 13921043 13921043 single base substitution C T upstream_gene_variant BRCA-EU 6 13921057 13921057 single base substitution A C upstream_gene_variant BRCA-EU 6 13921681 13921681 single base substitution T A upstream_gene_variant BRCA-EU 6 13921777 13921777 single base substitution C T upstream_gene_variant BRCA-EU 6 13923152 13923152 single base substitution C A upstream_gene_variant BRCA-EU 6 13923226 13923226 single base substitution T G upstream_gene_variant BRCA-EU 6 13924022 13924022 single base substitution C G upstream_gene_variant BRCA-EU 6 13924265 13924265 single base substitution G T upstream_gene_variant BRCA-EU 6 13924685 13924685 single base substitution T C 5_prime_UTR_variant BRCA-EU 6 13924685 13924685 single base substitution T C upstream_gene_variant BRCA-EU 6 13924836 13924836 insertion of <=200bp - G intron_variant BRCA-EU 6 13924836 13924836 insertion of <=200bp - G upstream_gene_variant BRCA-EU 6 13924943 13924943 single base substitution C G intron_variant BRCA-EU 6 13924943 13924943 single base substitution C G upstream_gene_variant BRCA-EU 6 13925977 13925977 single base substitution G T intron_variant BRCA-EU 6 13930171 13930171 single base substitution C T intron_variant BRCA-EU 6 13931161 13931161 single base substitution C G intron_variant BRCA-EU 6 13931431 13931431 insertion of <=200bp - A intron_variant BRCA-EU 6 13932335 13932335 single base substitution G T intron_variant BRCA-EU 6 13934528 13934528 single base substitution T A intron_variant BRCA-EU 6 13935641 13935641 single base substitution C T intron_variant BRCA-EU 6 13937291 13937291 single base substitution G A intron_variant BRCA-EU 6 13938803 13938803 single base substitution G C intron_variant BRCA-EU 6 13938872 13938872 single base substitution C G intron_variant BRCA-EU 6 13940798 13940798 deletion of <=200bp T - intron_variant BRCA-EU 6 13941181 13941181 deletion of <=200bp T - intron_variant BRCA-EU 6 13941181 13941181 insertion of <=200bp - T intron_variant BRCA-EU 6 13941371 13941371 single base substitution C G intron_variant BRCA-EU 6 13941405 13941405 single base substitution C G intron_variant BRCA-EU 6 13941718 13941718 single base substitution C G intron_variant BRCA-EU 6 13942097 13942097 single base substitution G C intron_variant BRCA-EU 6 13944946 13944946 single base substitution A G intron_variant BRCA-EU 6 13945814 13945814 single base substitution A G intron_variant BRCA-EU 6 13947940 13947940 single base substitution A G intron_variant BRCA-EU 6 13948469 13948469 single base substitution G C intron_variant BRCA-EU 6 13948961 13948961 single base substitution C G intron_variant BRCA-EU 6 13949086 13949086 deletion of <=200bp T - intron_variant BRCA-EU 6 13949578 13949578 single base substitution C T intron_variant BRCA-EU 6 13951887 13951887 single base substitution A T intron_variant BRCA-EU 6 13952501 13952501 single base substitution G A intron_variant BRCA-EU 6 13952800 13952800 single base substitution G A intron_variant BRCA-EU 6 13953179 13953179 single base substitution G T intron_variant BRCA-EU 6 13955138 13955138 single base substitution C T intron_variant BRCA-EU 6 13955312 13955312 single base substitution G T intron_variant BRCA-EU 6 13956902 13956902 single base substitution G C intron_variant BRCA-EU 6 13957403 13957403 single base substitution C A intron_variant BRCA-EU 6 13957428 13957428 single base substitution G A intron_variant BRCA-EU 6 13958882 13958882 single base substitution C G intron_variant BRCA-EU 6 13959106 13959106 single base substitution A C intron_variant BRCA-EU 6 13960091 13960091 single base substitution C G intron_variant BRCA-EU 6 13960246 13960246 single base substitution C A intron_variant BRCA-EU 6 13961040 13961040 single base substitution C G intron_variant BRCA-EU 6 13961469 13961469 single base substitution T C intron_variant BRCA-EU 6 13963800 13963800 single base substitution C T intron_variant BRCA-EU 6 13965611 13965611 single base substitution G A intron_variant BRCA-EU 6 13965927 13965927 single base substitution A T intron_variant BRCA-EU 6 13966690 13966690 single base substitution C A intron_variant BRCA-EU 6 13966972 13966972 single base substitution C T intron_variant BRCA-EU 6 13969150 13969151 deletion of <=200bp AC - intron_variant BRCA-EU 6 13970445 13970445 single base substitution T C intron_variant BRCA-EU 6 13971573 13971573 single base substitution G C intron_variant BRCA-EU 6 13972152 13972152 single base substitution T A intron_variant BRCA-EU 6 13972507 13972507 single base substitution G A intron_variant BRCA-EU 6 13973262 13973262 single base substitution C T intron_variant BRCA-EU 6 13973513 13973513 single base substitution T A intron_variant BRCA-EU 6 13974417 13974417 single base substitution C T intron_variant BRCA-EU 6 13974504 13974504 single base substitution T C 5_prime_UTR_variant BRCA-EU 6 13974504 13974504 single base substitution T C intron_variant BRCA-EU 6 13975685 13975685 single base substitution G A intron_variant BRCA-EU 6 13976561 13976561 single base substitution C G intron_variant BRCA-EU 6 13977092 13977092 single base substitution G A intron_variant BRCA-EU 6 13979232 13979232 single base substitution A G 3_prime_UTR_variant BRCA-EU 6 13979232 13979232 single base substitution A G downstream_gene_variant BRCA-EU 6 13980960 13980960 single base substitution A G downstream_gene_variant BRCA-EU 6 13981367 13981367 single base substitution G C downstream_gene_variant BRCA-EU 6 13981714 13981714 single base substitution A T downstream_gene_variant BRCA-EU 6 13982945 13982945 single base substitution G A downstream_gene_variant BRCA-EU 6 13983300 13983300 single base substitution G C downstream_gene_variant BRCA-EU 6 13985265 13985265 insertion of <=200bp - T downstream_gene_variant BRCA-FR 6 13923226 13923226 single base substitution T G upstream_gene_variant BRCA-FR 6 13924685 13924685 single base substitution T C 5_prime_UTR_variant BRCA-FR 6 13924685 13924685 single base substitution T C upstream_gene_variant BRCA-FR 6 13933901 13933901 single base substitution C G intron_variant BRCA-FR 6 13949578 13949578 single base substitution C T intron_variant BRCA-FR 6 13949699 13949699 single base substitution G A intron_variant BRCA-FR 6 13954356 13954356 single base substitution T G intron_variant BRCA-FR 6 13959106 13959106 single base substitution A C intron_variant BRCA-FR 6 13983283 13983283 single base substitution A T downstream_gene_variant BRCA-UK 6 13923152 13923152 single base substitution C A upstream_gene_variant BRCA-UK 6 13924297 13924297 single base substitution C T upstream_gene_variant BRCA-UK 6 13951887 13951887 single base substitution A T intron_variant BRCA-UK 6 13953179 13953179 single base substitution G T intron_variant BRCA-US 6 13977498 13977498 single base substitution A C downstream_gene_variant BRCA-US 6 13977498 13977498 single base substitution A C missense_variant K50Q 148A>C BRCA-US 6 13977576 13977576 single base substitution G A downstream_gene_variant BRCA-US 6 13977576 13977576 single base substitution G A missense_variant D76N 226G>A BRCA-US 6 13977596 13977596 single base substitution C G downstream_gene_variant BRCA-US 6 13977596 13977596 single base substitution C G synonymous_variant P82P 246C>G BRCA-US 6 13977702 13977702 single base substitution C G downstream_gene_variant BRCA-US 6 13977702 13977702 single base substitution C G missense_variant L118V 352C>G BRCA-US 6 13977923 13977923 single base substitution G T downstream_gene_variant BRCA-US 6 13977923 13977923 single base substitution G T missense_variant L191F 573G>T BRCA-US 6 13977941 13977941 single base substitution A C downstream_gene_variant BRCA-US 6 13977941 13977941 single base substitution A C missense_variant L197F 591A>C BRCA-US 6 13978083 13978083 single base substitution C A downstream_gene_variant BRCA-US 6 13978083 13978083 single base substitution C A missense_variant P245T 733C>A BTCA-JP 6 13977355 13977355 single base substitution C T missense_variant A2V 5C>T CLLE-ES 6 13937928 13937928 single base substitution A T intron_variant CLLE-ES 6 13941689 13941689 single base substitution G A intron_variant COAD-US 6 13977427 13977427 single base substitution G A downstream_gene_variant COAD-US 6 13977427 13977427 single base substitution G A missense_variant R26Q 77G>A COCA-CN 6 13938499 13938499 single base substitution C T intron_variant COCA-CN 6 13943947 13943947 single base substitution G T intron_variant COCA-CN 6 13949699 13949699 single base substitution G A intron_variant COCA-CN 6 13960877 13960877 single base substitution G A intron_variant COCA-CN 6 13967065 13967065 single base substitution G A intron_variant COCA-CN 6 13970263 13970263 single base substitution A G intron_variant COCA-CN 6 13977252 13977252 single base substitution G A 5_prime_UTR_variant COCA-CN 6 13977509 13977509 single base substitution C A downstream_gene_variant COCA-CN 6 13977509 13977509 single base substitution C A missense_variant D53E 159C>A COCA-CN 6 13977956 13977956 single base substitution C A downstream_gene_variant COCA-CN 6 13977956 13977956 single base substitution C A stop_gained Y202* 606C>A EOPC-DE 6 13948653 13948653 single base substitution C A intron_variant ESAD-UK 6 13921810 13921810 single base substitution T A upstream_gene_variant ESAD-UK 6 13923384 13923384 deletion of <=200bp T - upstream_gene_variant ESAD-UK 6 13923681 13923681 single base substitution A C upstream_gene_variant ESAD-UK 6 13926030 13926030 single base substitution C T intron_variant ESAD-UK 6 13927025 13927025 single base substitution T G intron_variant ESAD-UK 6 13927026 13927026 single base substitution T G intron_variant ESAD-UK 6 13927229 13927229 single base substitution C T intron_variant ESAD-UK 6 13928745 13928745 insertion of <=200bp - T intron_variant ESAD-UK 6 13931884 13931884 insertion of <=200bp - C intron_variant ESAD-UK 6 13931884 13931884 single base substitution T C intron_variant ESAD-UK 6 13934039 13934039 single base substitution G A intron_variant ESAD-UK 6 13934268 13934268 insertion of <=200bp - A intron_variant ESAD-UK 6 13936977 13936977 single base substitution G T intron_variant ESAD-UK 6 13937496 13937496 single base substitution C A intron_variant ESAD-UK 6 13937672 13937672 single base substitution T G intron_variant ESAD-UK 6 13939184 13939184 single base substitution C G intron_variant ESAD-UK 6 13940239 13940239 deletion of <=200bp T - intron_variant ESAD-UK 6 13941425 13941425 single base substitution C G intron_variant ESAD-UK 6 13943093 13943093 single base substitution C T intron_variant ESAD-UK 6 13943629 13943629 single base substitution G T intron_variant ESAD-UK 6 13948423 13948423 single base substitution G A intron_variant ESAD-UK 6 13949282 13949282 single base substitution T C intron_variant ESAD-UK 6 13952136 13952136 single base substitution T G intron_variant ESAD-UK 6 13952510 13952510 single base substitution C T intron_variant ESAD-UK 6 13955015 13955015 single base substitution C A intron_variant ESAD-UK 6 13955873 13955873 single base substitution G C intron_variant ESAD-UK 6 13956397 13956397 single base substitution C A intron_variant ESAD-UK 6 13956402 13956402 single base substitution T G intron_variant ESAD-UK 6 13958084 13958084 single base substitution C T intron_variant ESAD-UK 6 13958108 13958108 single base substitution A C intron_variant ESAD-UK 6 13960926 13960926 insertion of <=200bp - GT intron_variant ESAD-UK 6 13961798 13961798 single base substitution G A intron_variant ESAD-UK 6 13961798 13961798 single base substitution G A splice_region_variant ESAD-UK 6 13963605 13963605 single base substitution C A intron_variant ESAD-UK 6 13963887 13963887 single base substitution G A intron_variant ESAD-UK 6 13964306 13964306 single base substitution T G intron_variant ESAD-UK 6 13964670 13964670 single base substitution C T intron_variant ESAD-UK 6 13967004 13967004 deletion of <=200bp C - intron_variant ESAD-UK 6 13967848 13967848 single base substitution T A intron_variant ESAD-UK 6 13968765 13968765 single base substitution A C intron_variant ESAD-UK 6 13969001 13969001 single base substitution A G intron_variant ESAD-UK 6 13969247 13969247 insertion of <=200bp - A intron_variant ESAD-UK 6 13969550 13969550 single base substitution G T intron_variant ESAD-UK 6 13969551 13969551 single base substitution A T intron_variant ESAD-UK 6 13971059 13971059 single base substitution C T intron_variant ESAD-UK 6 13971062 13971062 single base substitution G A intron_variant ESAD-UK 6 13971152 13971152 single base substitution C T intron_variant ESAD-UK 6 13971518 13971518 single base substitution G A intron_variant ESAD-UK 6 13971895 13971895 single base substitution G A intron_variant ESAD-UK 6 13972892 13972892 single base substitution G T intron_variant ESAD-UK 6 13973338 13973338 single base substitution C G intron_variant ESAD-UK 6 13973657 13973657 single base substitution G T intron_variant ESAD-UK 6 13975619 13975619 single base substitution T C intron_variant ESAD-UK 6 13975779 13975779 single base substitution T C intron_variant ESAD-UK 6 13979996 13979996 single base substitution C A 3_prime_UTR_variant ESAD-UK 6 13979996 13979996 single base substitution C A downstream_gene_variant ESAD-UK 6 13981477 13981477 single base substitution A C downstream_gene_variant ESAD-UK 6 13981841 13981841 single base substitution G C downstream_gene_variant ESAD-UK 6 13982849 13982849 single base substitution G A downstream_gene_variant ESAD-UK 6 13984527 13984527 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 13984560 13984560 single base substitution T G downstream_gene_variant ESAD-UK 6 13985475 13985475 single base substitution T C downstream_gene_variant ESAD-UK 6 13985515 13985515 single base substitution G A downstream_gene_variant ESCA-CN 6 13978569 13978569 single base substitution A C 3_prime_UTR_variant ESCA-CN 6 13978569 13978569 single base substitution A C downstream_gene_variant LICA-CN 6 13977759 13977759 single base substitution C A downstream_gene_variant LICA-CN 6 13977759 13977759 single base substitution C A missense_variant Q137K 409C>A LICA-FR 6 13938235 13938235 single base substitution G T intron_variant LICA-FR 6 13959666 13959666 single base substitution T C intron_variant LICA-FR 6 13977447 13977447 single base substitution A C downstream_gene_variant LICA-FR 6 13977447 13977447 single base substitution A C missense_variant K33Q 97A>C LICA-FR 6 13977482 13977482 single base substitution T A downstream_gene_variant LICA-FR 6 13977482 13977482 single base substitution T A stop_gained C44* 132T>A LICA-FR 6 13977775 13977775 single base substitution C T downstream_gene_variant LICA-FR 6 13977775 13977775 single base substitution C T missense_variant P142L 425C>T LICA-FR 6 13977779 13977779 single base substitution C T downstream_gene_variant LICA-FR 6 13977779 13977779 single base substitution C T synonymous_variant S143S 429C>T LICA-FR 6 13977852 13977852 single base substitution T C downstream_gene_variant LICA-FR 6 13977852 13977852 single base substitution T C missense_variant W168R 502T>C LICA-FR 6 13985208 13985208 single base substitution T C downstream_gene_variant LIHC-US 6 13977395 13977395 single base substitution T C downstream_gene_variant LIHC-US 6 13977395 13977395 single base substitution T C synonymous_variant S15S 45T>C LINC-JP 6 13925295 13925295 single base substitution A C intron_variant LINC-JP 6 13925295 13925295 single base substitution A C upstream_gene_variant LINC-JP 6 13936637 13936637 single base substitution A G intron_variant LINC-JP 6 13943615 13943615 single base substitution G A intron_variant LINC-JP 6 13958208 13958208 single base substitution G A intron_variant LINC-JP 6 13959641 13959641 single base substitution T C intron_variant LINC-JP 6 13960516 13960516 single base substitution G T intron_variant LINC-JP 6 13972207 13972207 single base substitution T C intron_variant LINC-JP 6 13972671 13972671 single base substitution A G intron_variant LINC-JP 6 13977247 13977247 deletion of <=200bp G - 5_prime_UTR_variant LINC-JP 6 13977620 13977620 single base substitution C G downstream_gene_variant LINC-JP 6 13977620 13977620 single base substitution C G missense_variant N90K 270C>G LINC-JP 6 13980081 13980081 single base substitution G C 3_prime_UTR_variant LINC-JP 6 13980081 13980081 single base substitution G C downstream_gene_variant LIRI-JP 6 13920362 13920362 single base substitution A G upstream_gene_variant LIRI-JP 6 13920906 13920906 single base substitution A G upstream_gene_variant LIRI-JP 6 13924113 13924113 single base substitution T C upstream_gene_variant LIRI-JP 6 13927950 13927950 single base substitution T C intron_variant LIRI-JP 6 13929884 13929884 single base substitution A T intron_variant LIRI-JP 6 13929928 13929928 single base substitution T C intron_variant LIRI-JP 6 13931590 13931590 single base substitution A G intron_variant LIRI-JP 6 13932509 13932509 single base substitution T C intron_variant LIRI-JP 6 13933116 13933116 single base substitution G T intron_variant LIRI-JP 6 13933231 13933231 single base substitution G T intron_variant LIRI-JP 6 13934187 13934187 single base substitution T C intron_variant LIRI-JP 6 13937210 13937210 single base substitution T G intron_variant LIRI-JP 6 13937280 13937280 single base substitution A T intron_variant LIRI-JP 6 13937542 13937542 single base substitution G T intron_variant LIRI-JP 6 13938537 13938537 single base substitution T C intron_variant LIRI-JP 6 13939369 13939369 single base substitution T C intron_variant LIRI-JP 6 13942205 13942205 single base substitution T A intron_variant LIRI-JP 6 13943592 13943592 single base substitution T C intron_variant LIRI-JP 6 13944868 13944868 single base substitution C A intron_variant LIRI-JP 6 13945095 13945095 single base substitution C T intron_variant LIRI-JP 6 13945268 13945268 single base substitution C G intron_variant LIRI-JP 6 13946173 13946173 single base substitution G T intron_variant LIRI-JP 6 13948233 13948233 single base substitution T C intron_variant LIRI-JP 6 13949894 13949894 single base substitution A G intron_variant LIRI-JP 6 13949936 13949936 single base substitution A G intron_variant LIRI-JP 6 13950247 13950247 single base substitution C G intron_variant LIRI-JP 6 13950260 13950260 single base substitution A G intron_variant LIRI-JP 6 13951942 13951942 single base substitution G A intron_variant LIRI-JP 6 13953436 13953436 single base substitution T A intron_variant LIRI-JP 6 13956169 13956169 single base substitution C T intron_variant LIRI-JP 6 13957035 13957035 single base substitution T C intron_variant LIRI-JP 6 13957185 13957185 single base substitution C A intron_variant LIRI-JP 6 13958395 13958395 single base substitution G A intron_variant LIRI-JP 6 13958763 13958763 single base substitution A G intron_variant LIRI-JP 6 13958807 13958807 single base substitution A G intron_variant LIRI-JP 6 13959047 13959047 single base substitution T A intron_variant LIRI-JP 6 13961804 13961804 single base substitution C T intron_variant LIRI-JP 6 13964406 13964406 single base substitution A G intron_variant LIRI-JP 6 13966580 13966580 single base substitution G A intron_variant LIRI-JP 6 13969015 13969015 single base substitution G T intron_variant LIRI-JP 6 13969908 13969908 single base substitution A G intron_variant LIRI-JP 6 13970934 13970934 single base substitution C A intron_variant LIRI-JP 6 13971060 13971060 single base substitution G A intron_variant LIRI-JP 6 13973084 13973084 single base substitution G T intron_variant LIRI-JP 6 13973368 13973368 single base substitution G A intron_variant LIRI-JP 6 13974322 13974322 single base substitution T A intron_variant LIRI-JP 6 13975030 13975030 single base substitution T G intron_variant LIRI-JP 6 13975642 13975642 single base substitution T C intron_variant LIRI-JP 6 13975670 13975670 single base substitution C A intron_variant LIRI-JP 6 13975797 13975797 single base substitution A G intron_variant LIRI-JP 6 13975832 13975832 single base substitution T C intron_variant LIRI-JP 6 13978247 13978247 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 13978247 13978247 single base substitution T C downstream_gene_variant LIRI-JP 6 13978763 13978763 single base substitution T A 3_prime_UTR_variant LIRI-JP 6 13978763 13978763 single base substitution T A downstream_gene_variant LIRI-JP 6 13979468 13979468 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 13979468 13979468 single base substitution T C downstream_gene_variant LIRI-JP 6 13979692 13979692 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 13979692 13979692 single base substitution T C downstream_gene_variant LIRI-JP 6 13980842 13980842 single base substitution A T downstream_gene_variant LIRI-JP 6 13980935 13980935 single base substitution C G downstream_gene_variant LIRI-JP 6 13982658 13982658 single base substitution T C downstream_gene_variant LIRI-JP 6 13983402 13983402 single base substitution T C downstream_gene_variant LIRI-JP 6 13983645 13983645 single base substitution C G downstream_gene_variant LIRI-JP 6 13984372 13984372 single base substitution A G downstream_gene_variant LIRI-JP 6 13984495 13984495 single base substitution A G downstream_gene_variant LUSC-KR 6 13925613 13925613 single base substitution C A intron_variant LUSC-KR 6 13925726 13925726 single base substitution C T intron_variant LUSC-KR 6 13926881 13926881 single base substitution A G intron_variant LUSC-KR 6 13927042 13927042 single base substitution G A intron_variant LUSC-KR 6 13930448 13930448 single base substitution A T intron_variant LUSC-KR 6 13938276 13938276 single base substitution G A intron_variant LUSC-KR 6 13938456 13938456 single base substitution G T intron_variant LUSC-KR 6 13938859 13938859 single base substitution G T intron_variant LUSC-KR 6 13943410 13943410 single base substitution C G intron_variant LUSC-KR 6 13949458 13949458 single base substitution G T intron_variant LUSC-KR 6 13949843 13949843 single base substitution T A intron_variant LUSC-KR 6 13950461 13950461 single base substitution G T intron_variant LUSC-KR 6 13950669 13950669 single base substitution G A intron_variant LUSC-KR 6 13953091 13953091 single base substitution T C intron_variant LUSC-KR 6 13964950 13964950 single base substitution G A intron_variant LUSC-KR 6 13966920 13966920 single base substitution C G intron_variant LUSC-KR 6 13969226 13969226 single base substitution A G intron_variant LUSC-KR 6 13982572 13982572 single base substitution T C downstream_gene_variant LUSC-US 6 13977368 13977368 single base substitution T G synonymous_variant P6P 18T>G LUSC-US 6 13977868 13977868 single base substitution G A downstream_gene_variant LUSC-US 6 13977868 13977868 single base substitution G A missense_variant C173Y 518G>A MALY-DE 6 13926824 13926824 single base substitution G A intron_variant MALY-DE 6 13930139 13930139 single base substitution A C intron_variant MALY-DE 6 13930672 13930672 single base substitution G A intron_variant MALY-DE 6 13933453 13933453 single base substitution A T intron_variant MALY-DE 6 13940888 13940888 insertion of <=200bp - T intron_variant MALY-DE 6 13945069 13945069 single base substitution T G intron_variant MALY-DE 6 13948422 13948422 single base substitution C T intron_variant MALY-DE 6 13950112 13950112 single base substitution C T intron_variant MALY-DE 6 13960126 13960126 single base substitution G T intron_variant MALY-DE 6 13960127 13960127 single base substitution G T intron_variant MALY-DE 6 13960220 13960220 single base substitution T A intron_variant MALY-DE 6 13963488 13963488 single base substitution C A intron_variant MALY-DE 6 13966230 13966243 deletion of <=200bp CTGGAAGTACTCTC - intron_variant MALY-DE 6 13967977 13967977 single base substitution A T intron_variant MALY-DE 6 13972318 13972318 single base substitution T A intron_variant MALY-DE 6 13977776 13977776 single base substitution G A downstream_gene_variant MALY-DE 6 13977776 13977776 single base substitution G A synonymous_variant P142P 426G>A MALY-DE 6 13978013 13978013 single base substitution G A downstream_gene_variant MALY-DE 6 13978013 13978013 single base substitution G A synonymous_variant S221S 663G>A MALY-DE 6 13979908 13979908 single base substitution T G 3_prime_UTR_variant MALY-DE 6 13979908 13979908 single base substitution T G downstream_gene_variant MALY-DE 6 13982969 13982969 single base substitution G A downstream_gene_variant MALY-DE 6 13984670 13984670 single base substitution T C downstream_gene_variant MALY-DE 6 13984932 13984932 single base substitution G A downstream_gene_variant MELA-AU 6 13919679 13919679 single base substitution T C upstream_gene_variant MELA-AU 6 13919786 13919786 single base substitution G A upstream_gene_variant MELA-AU 6 13919793 13919793 single base substitution T C upstream_gene_variant MELA-AU 6 13920107 13920107 single base substitution G A upstream_gene_variant MELA-AU 6 13920477 13920477 single base substitution G A upstream_gene_variant MELA-AU 6 13920574 13920574 single base substitution G A upstream_gene_variant MELA-AU 6 13920723 13920723 single base substitution G A upstream_gene_variant MELA-AU 6 13921042 13921042 single base substitution C T upstream_gene_variant MELA-AU 6 13921052 13921052 single base substitution G A upstream_gene_variant MELA-AU 6 13921074 13921074 single base substitution G A upstream_gene_variant MELA-AU 6 13921191 13921191 single base substitution C T upstream_gene_variant MELA-AU 6 13921226 13921226 single base substitution G A upstream_gene_variant MELA-AU 6 13921323 13921323 single base substitution G A upstream_gene_variant MELA-AU 6 13921363 13921363 single base substitution T C upstream_gene_variant MELA-AU 6 13921561 13921561 single base substitution C T upstream_gene_variant MELA-AU 6 13921793 13921793 single base substitution A C upstream_gene_variant MELA-AU 6 13921991 13921991 single base substitution A T upstream_gene_variant MELA-AU 6 13922503 13922503 single base substitution C T upstream_gene_variant MELA-AU 6 13922566 13922566 single base substitution G A upstream_gene_variant MELA-AU 6 13922802 13922802 single base substitution G A upstream_gene_variant MELA-AU 6 13923065 13923065 single base substitution G A upstream_gene_variant MELA-AU 6 13923066 13923066 single base substitution G A upstream_gene_variant MELA-AU 6 13923292 13923292 single base substitution G A upstream_gene_variant MELA-AU 6 13923448 13923448 single base substitution C T upstream_gene_variant MELA-AU 6 13923628 13923628 deletion of <=200bp A - upstream_gene_variant MELA-AU 6 13923700 13923700 single base substitution C T upstream_gene_variant MELA-AU 6 13924081 13924081 single base substitution C T upstream_gene_variant MELA-AU 6 13924143 13924143 single base substitution A T upstream_gene_variant MELA-AU 6 13924545 13924546 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 13924799 13924799 single base substitution G A 5_prime_UTR_variant MELA-AU 6 13924799 13924799 single base substitution G A upstream_gene_variant MELA-AU 6 13925130 13925130 single base substitution C T 5_prime_UTR_variant MELA-AU 6 13925130 13925130 single base substitution C T intron_variant MELA-AU 6 13925130 13925130 single base substitution C T upstream_gene_variant MELA-AU 6 13926317 13926317 single base substitution T C intron_variant MELA-AU 6 13926805 13926805 single base substitution C T intron_variant MELA-AU 6 13927042 13927042 single base substitution G A intron_variant MELA-AU 6 13927440 13927440 single base substitution C T intron_variant MELA-AU 6 13927500 13927500 single base substitution A G intron_variant MELA-AU 6 13927716 13927716 single base substitution A T intron_variant MELA-AU 6 13927722 13927722 single base substitution G A intron_variant MELA-AU 6 13928129 13928129 single base substitution G A intron_variant MELA-AU 6 13928727 13928727 single base substitution C T intron_variant MELA-AU 6 13929385 13929385 single base substitution C A intron_variant MELA-AU 6 13929894 13929894 single base substitution T G intron_variant MELA-AU 6 13930077 13930077 single base substitution C T intron_variant MELA-AU 6 13930113 13930113 single base substitution A T intron_variant MELA-AU 6 13930254 13930254 single base substitution C T intron_variant MELA-AU 6 13930602 13930602 single base substitution C T intron_variant MELA-AU 6 13930782 13930782 single base substitution C T intron_variant MELA-AU 6 13930854 13930854 single base substitution T A intron_variant MELA-AU 6 13931219 13931219 single base substitution G A intron_variant MELA-AU 6 13931596 13931596 single base substitution C T intron_variant MELA-AU 6 13931741 13931741 single base substitution G A intron_variant MELA-AU 6 13931790 13931790 single base substitution G A intron_variant MELA-AU 6 13932046 13932046 single base substitution C T intron_variant MELA-AU 6 13932722 13932722 single base substitution C T intron_variant MELA-AU 6 13932764 13932764 single base substitution C T intron_variant MELA-AU 6 13932996 13932996 single base substitution A G intron_variant MELA-AU 6 13933104 13933104 single base substitution A T intron_variant MELA-AU 6 13933767 13933767 single base substitution A G intron_variant MELA-AU 6 13934017 13934017 single base substitution G A intron_variant MELA-AU 6 13934541 13934541 single base substitution G A intron_variant MELA-AU 6 13934873 13934873 single base substitution G A intron_variant MELA-AU 6 13934969 13934969 single base substitution C T intron_variant MELA-AU 6 13935257 13935257 single base substitution G A intron_variant MELA-AU 6 13935495 13935495 single base substitution C T intron_variant MELA-AU 6 13936241 13936241 single base substitution G A intron_variant MELA-AU 6 13936415 13936415 single base substitution C T intron_variant MELA-AU 6 13936734 13936734 single base substitution T C intron_variant MELA-AU 6 13936884 13936884 single base substitution G A intron_variant MELA-AU 6 13936955 13936955 single base substitution G A intron_variant MELA-AU 6 13937274 13937274 single base substitution G T intron_variant MELA-AU 6 13937439 13937439 single base substitution C T intron_variant MELA-AU 6 13937533 13937533 single base substitution C T intron_variant MELA-AU 6 13937719 13937719 single base substitution G T intron_variant MELA-AU 6 13937795 13937795 single base substitution C T intron_variant MELA-AU 6 13938553 13938553 single base substitution C T intron_variant MELA-AU 6 13938572 13938572 single base substitution T C intron_variant MELA-AU 6 13938665 13938665 single base substitution C T intron_variant MELA-AU 6 13939071 13939071 single base substitution T C intron_variant MELA-AU 6 13939141 13939141 single base substitution C T intron_variant MELA-AU 6 13939865 13939865 single base substitution C T intron_variant MELA-AU 6 13939933 13939933 single base substitution C T intron_variant MELA-AU 6 13940089 13940089 single base substitution T C intron_variant MELA-AU 6 13940509 13940509 single base substitution C T intron_variant MELA-AU 6 13940732 13940732 single base substitution C T intron_variant MELA-AU 6 13940994 13940994 single base substitution C T intron_variant MELA-AU 6 13941232 13941232 single base substitution G A intron_variant MELA-AU 6 13941524 13941524 single base substitution C G intron_variant MELA-AU 6 13941838 13941838 single base substitution C T intron_variant MELA-AU 6 13942361 13942361 single base substitution C T intron_variant MELA-AU 6 13942763 13942763 single base substitution A G intron_variant MELA-AU 6 13942803 13942803 single base substitution C T intron_variant MELA-AU 6 13942866 13942866 single base substitution C T intron_variant MELA-AU 6 13943011 13943011 single base substitution C T intron_variant MELA-AU 6 13943034 13943034 single base substitution C T intron_variant MELA-AU 6 13943506 13943506 single base substitution G A intron_variant MELA-AU 6 13943522 13943522 single base substitution T C intron_variant MELA-AU 6 13943711 13943711 single base substitution C T intron_variant MELA-AU 6 13943968 13943968 single base substitution G A intron_variant MELA-AU 6 13944017 13944017 single base substitution T A intron_variant MELA-AU 6 13944142 13944142 single base substitution G T intron_variant MELA-AU 6 13944314 13944314 single base substitution G A intron_variant MELA-AU 6 13944380 13944380 single base substitution C T intron_variant MELA-AU 6 13944530 13944530 single base substitution A C intron_variant MELA-AU 6 13944837 13944837 single base substitution G A intron_variant MELA-AU 6 13944937 13944937 single base substitution C T intron_variant MELA-AU 6 13945201 13945201 single base substitution G A intron_variant MELA-AU 6 13945403 13945403 single base substitution C T intron_variant MELA-AU 6 13945816 13945816 single base substitution G A intron_variant MELA-AU 6 13946136 13946136 single base substitution G A intron_variant MELA-AU 6 13946265 13946265 single base substitution G A intron_variant MELA-AU 6 13946409 13946409 single base substitution T A intron_variant MELA-AU 6 13946426 13946426 single base substitution C T intron_variant MELA-AU 6 13946759 13946759 single base substitution C T intron_variant MELA-AU 6 13946827 13946827 single base substitution C T intron_variant MELA-AU 6 13946842 13946842 single base substitution C T intron_variant MELA-AU 6 13946917 13946917 single base substitution C T intron_variant MELA-AU 6 13947006 13947006 single base substitution G A intron_variant MELA-AU 6 13947292 13947292 single base substitution T A intron_variant MELA-AU 6 13947491 13947491 single base substitution A T intron_variant MELA-AU 6 13948006 13948006 single base substitution T C intron_variant MELA-AU 6 13948015 13948015 single base substitution C T intron_variant MELA-AU 6 13948044 13948044 single base substitution T A intron_variant MELA-AU 6 13948485 13948485 single base substitution C T intron_variant MELA-AU 6 13948554 13948554 single base substitution G A intron_variant MELA-AU 6 13948592 13948592 single base substitution G A intron_variant MELA-AU 6 13948604 13948604 single base substitution C T intron_variant MELA-AU 6 13948776 13948776 single base substitution G A intron_variant MELA-AU 6 13949382 13949382 single base substitution C T intron_variant MELA-AU 6 13949434 13949434 single base substitution C T intron_variant MELA-AU 6 13949586 13949586 single base substitution C T intron_variant MELA-AU 6 13949819 13949819 single base substitution C T intron_variant MELA-AU 6 13949871 13949871 single base substitution C T intron_variant MELA-AU 6 13950286 13950286 single base substitution G A intron_variant MELA-AU 6 13950301 13950301 single base substitution C T intron_variant MELA-AU 6 13950397 13950397 single base substitution C T intron_variant MELA-AU 6 13950631 13950631 single base substitution C T intron_variant MELA-AU 6 13950817 13950817 single base substitution C T intron_variant MELA-AU 6 13950819 13950819 single base substitution C T intron_variant MELA-AU 6 13950985 13950985 single base substitution C T intron_variant MELA-AU 6 13951031 13951031 single base substitution C T intron_variant MELA-AU 6 13951151 13951151 single base substitution C T intron_variant MELA-AU 6 13951679 13951679 single base substitution C T intron_variant MELA-AU 6 13951889 13951889 single base substitution G A intron_variant MELA-AU 6 13951956 13951956 single base substitution C T intron_variant MELA-AU 6 13952242 13952242 single base substitution G A intron_variant MELA-AU 6 13952364 13952364 single base substitution G A intron_variant MELA-AU 6 13952365 13952365 single base substitution A G intron_variant MELA-AU 6 13952546 13952546 single base substitution T C intron_variant MELA-AU 6 13952573 13952573 single base substitution C T intron_variant MELA-AU 6 13952656 13952656 single base substitution C T intron_variant MELA-AU 6 13952771 13952771 single base substitution G A intron_variant MELA-AU 6 13952858 13952858 single base substitution C T intron_variant MELA-AU 6 13952862 13952862 single base substitution C T intron_variant MELA-AU 6 13952902 13952902 single base substitution C T intron_variant MELA-AU 6 13953123 13953123 single base substitution C T intron_variant MELA-AU 6 13953348 13953348 single base substitution T C intron_variant MELA-AU 6 13953664 13953664 single base substitution G A intron_variant MELA-AU 6 13954033 13954033 single base substitution C T intron_variant MELA-AU 6 13954085 13954085 single base substitution C T intron_variant MELA-AU 6 13954186 13954186 single base substitution C T intron_variant MELA-AU 6 13954229 13954229 single base substitution G A intron_variant MELA-AU 6 13954303 13954303 single base substitution C T intron_variant MELA-AU 6 13954372 13954372 single base substitution C T intron_variant MELA-AU 6 13954579 13954579 single base substitution C T intron_variant MELA-AU 6 13954695 13954696 multiple base substitution (>=2bp and <=200bp) TG AA intron_variant MELA-AU 6 13955183 13955183 single base substitution T C intron_variant MELA-AU 6 13956354 13956354 single base substitution C T intron_variant MELA-AU 6 13956590 13956590 single base substitution C T intron_variant MELA-AU 6 13956945 13956945 single base substitution C T intron_variant MELA-AU 6 13956946 13956946 single base substitution C A intron_variant MELA-AU 6 13957057 13957057 single base substitution C T intron_variant MELA-AU 6 13957117 13957117 single base substitution C T intron_variant MELA-AU 6 13957305 13957305 single base substitution C T intron_variant MELA-AU 6 13957597 13957597 deletion of <=200bp A - intron_variant MELA-AU 6 13958096 13958096 single base substitution A T intron_variant MELA-AU 6 13958326 13958326 single base substitution C T intron_variant MELA-AU 6 13958739 13958739 single base substitution C T intron_variant MELA-AU 6 13959223 13959223 single base substitution C T intron_variant MELA-AU 6 13959794 13959794 single base substitution G A intron_variant MELA-AU 6 13959795 13959795 single base substitution G A intron_variant MELA-AU 6 13959876 13959876 single base substitution G A intron_variant MELA-AU 6 13959886 13959886 single base substitution G A intron_variant MELA-AU 6 13960182 13960182 single base substitution G A intron_variant MELA-AU 6 13960632 13960632 single base substitution G A intron_variant MELA-AU 6 13960778 13960778 single base substitution T C intron_variant MELA-AU 6 13961342 13961342 single base substitution C T intron_variant MELA-AU 6 13961664 13961664 single base substitution C T intron_variant MELA-AU 6 13961672 13961672 single base substitution C T intron_variant MELA-AU 6 13961912 13961912 single base substitution A T intron_variant MELA-AU 6 13962606 13962606 single base substitution C T intron_variant MELA-AU 6 13962820 13962820 single base substitution C T intron_variant MELA-AU 6 13962932 13962932 single base substitution C T intron_variant MELA-AU 6 13963021 13963021 single base substitution C T intron_variant MELA-AU 6 13963308 13963308 single base substitution G A intron_variant MELA-AU 6 13963321 13963321 single base substitution C T intron_variant MELA-AU 6 13964424 13964424 single base substitution G A intron_variant MELA-AU 6 13964658 13964658 single base substitution C T intron_variant MELA-AU 6 13964947 13964947 single base substitution C T intron_variant MELA-AU 6 13965005 13965005 single base substitution G A intron_variant MELA-AU 6 13965044 13965044 single base substitution C T intron_variant MELA-AU 6 13965068 13965068 single base substitution C T intron_variant MELA-AU 6 13965069 13965069 single base substitution C T intron_variant MELA-AU 6 13965089 13965089 single base substitution G A intron_variant MELA-AU 6 13965202 13965202 single base substitution C T intron_variant MELA-AU 6 13965213 13965213 single base substitution C T intron_variant MELA-AU 6 13965634 13965634 single base substitution A T intron_variant MELA-AU 6 13965639 13965639 single base substitution G A intron_variant MELA-AU 6 13965675 13965675 single base substitution C T intron_variant MELA-AU 6 13965785 13965785 single base substitution G A intron_variant MELA-AU 6 13965974 13965974 single base substitution C T intron_variant MELA-AU 6 13966173 13966173 single base substitution G A intron_variant MELA-AU 6 13966243 13966243 single base substitution C T intron_variant MELA-AU 6 13966253 13966253 single base substitution G A intron_variant MELA-AU 6 13966363 13966363 single base substitution A T intron_variant MELA-AU 6 13966609 13966609 single base substitution C T intron_variant MELA-AU 6 13966708 13966708 single base substitution C T intron_variant MELA-AU 6 13966770 13966770 single base substitution G A intron_variant MELA-AU 6 13966819 13966819 single base substitution C T intron_variant MELA-AU 6 13966942 13966942 single base substitution T C intron_variant MELA-AU 6 13967116 13967116 single base substitution G A intron_variant MELA-AU 6 13967237 13967237 single base substitution T A intron_variant MELA-AU 6 13967269 13967269 single base substitution T C intron_variant MELA-AU 6 13967275 13967275 single base substitution C T intron_variant MELA-AU 6 13967389 13967389 single base substitution G A intron_variant MELA-AU 6 13967433 13967433 single base substitution C T intron_variant MELA-AU 6 13967446 13967446 single base substitution G A intron_variant MELA-AU 6 13968043 13968043 single base substitution C T intron_variant MELA-AU 6 13968047 13968047 single base substitution C T intron_variant MELA-AU 6 13968658 13968658 single base substitution T C intron_variant MELA-AU 6 13968722 13968722 single base substitution G T intron_variant MELA-AU 6 13968763 13968763 single base substitution G A intron_variant MELA-AU 6 13969244 13969244 single base substitution A G intron_variant MELA-AU 6 13969255 13969255 single base substitution G A intron_variant MELA-AU 6 13969336 13969336 single base substitution T G intron_variant MELA-AU 6 13969387 13969387 single base substitution C T intron_variant MELA-AU 6 13969771 13969771 single base substitution G A intron_variant MELA-AU 6 13970131 13970131 single base substitution T A intron_variant MELA-AU 6 13970248 13970248 single base substitution C T intron_variant MELA-AU 6 13970255 13970255 single base substitution T A intron_variant MELA-AU 6 13970389 13970389 single base substitution C T intron_variant MELA-AU 6 13970708 13970708 single base substitution C T intron_variant MELA-AU 6 13970795 13970796 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 13971136 13971136 single base substitution C T intron_variant MELA-AU 6 13971152 13971152 single base substitution C T intron_variant MELA-AU 6 13971410 13971410 single base substitution C T intron_variant MELA-AU 6 13971462 13971462 single base substitution C T intron_variant MELA-AU 6 13971473 13971473 single base substitution T C intron_variant MELA-AU 6 13971547 13971547 single base substitution C T intron_variant MELA-AU 6 13971589 13971589 single base substitution C T intron_variant MELA-AU 6 13971703 13971703 single base substitution C T intron_variant MELA-AU 6 13971798 13971798 single base substitution T C intron_variant MELA-AU 6 13971831 13971831 single base substitution G A intron_variant MELA-AU 6 13971909 13971909 single base substitution C T intron_variant MELA-AU 6 13971962 13971962 single base substitution A G intron_variant MELA-AU 6 13971973 13971973 single base substitution G A intron_variant MELA-AU 6 13971983 13971983 single base substitution C T intron_variant MELA-AU 6 13971988 13971988 single base substitution G A intron_variant MELA-AU 6 13971994 13971994 single base substitution G A intron_variant MELA-AU 6 13972311 13972311 single base substitution C T intron_variant MELA-AU 6 13972314 13972314 single base substitution G A intron_variant MELA-AU 6 13972807 13972807 single base substitution C T intron_variant MELA-AU 6 13972913 13972913 single base substitution C T intron_variant MELA-AU 6 13973075 13973075 single base substitution G A intron_variant MELA-AU 6 13973396 13973396 single base substitution C A intron_variant MELA-AU 6 13973418 13973418 single base substitution C T intron_variant MELA-AU 6 13973571 13973571 single base substitution A C intron_variant MELA-AU 6 13973729 13973729 single base substitution G A intron_variant MELA-AU 6 13973830 13973830 single base substitution C T intron_variant MELA-AU 6 13973947 13973947 single base substitution C T intron_variant MELA-AU 6 13974013 13974013 single base substitution G A intron_variant MELA-AU 6 13974025 13974025 single base substitution C T intron_variant MELA-AU 6 13974047 13974047 single base substitution C T intron_variant MELA-AU 6 13974342 13974342 single base substitution C T intron_variant MELA-AU 6 13974530 13974530 single base substitution G A 5_prime_UTR_variant MELA-AU 6 13974530 13974530 single base substitution G A intron_variant MELA-AU 6 13974594 13974594 single base substitution G A intron_variant MELA-AU 6 13974594 13974594 single base substitution G A splice_region_variant MELA-AU 6 13975115 13975115 single base substitution T A intron_variant MELA-AU 6 13975240 13975240 single base substitution C T intron_variant MELA-AU 6 13975365 13975365 single base substitution G A intron_variant MELA-AU 6 13975417 13975417 single base substitution C T intron_variant MELA-AU 6 13975538 13975538 single base substitution C T intron_variant MELA-AU 6 13975566 13975566 single base substitution G A intron_variant MELA-AU 6 13975662 13975662 single base substitution C T intron_variant MELA-AU 6 13975877 13975877 single base substitution C T intron_variant MELA-AU 6 13976021 13976021 single base substitution G A intron_variant MELA-AU 6 13976154 13976154 single base substitution C T intron_variant MELA-AU 6 13976493 13976493 single base substitution A G intron_variant MELA-AU 6 13977236 13977236 single base substitution C T 5_prime_UTR_variant MELA-AU 6 13977269 13977269 single base substitution A T 5_prime_UTR_variant MELA-AU 6 13977416 13977416 single base substitution C T downstream_gene_variant MELA-AU 6 13977416 13977416 single base substitution C T synonymous_variant I22I 66C>T MELA-AU 6 13977725 13977725 single base substitution C T downstream_gene_variant MELA-AU 6 13977725 13977725 single base substitution C T synonymous_variant S125S 375C>T MELA-AU 6 13978130 13978130 single base substitution C T 3_prime_UTR_variant MELA-AU 6 13978130 13978130 single base substitution C T downstream_gene_variant MELA-AU 6 13978348 13978348 single base substitution G A 3_prime_UTR_variant MELA-AU 6 13978348 13978348 single base substitution G A downstream_gene_variant MELA-AU 6 13978714 13978714 single base substitution C T 3_prime_UTR_variant MELA-AU 6 13978714 13978714 single base substitution C T downstream_gene_variant MELA-AU 6 13979056 13979056 single base substitution A G 3_prime_UTR_variant MELA-AU 6 13979056 13979056 single base substitution A G downstream_gene_variant MELA-AU 6 13980199 13980199 single base substitution C T 3_prime_UTR_variant MELA-AU 6 13980199 13980199 single base substitution C T downstream_gene_variant MELA-AU 6 13980357 13980357 single base substitution C T 3_prime_UTR_variant MELA-AU 6 13980357 13980357 single base substitution C T downstream_gene_variant MELA-AU 6 13981377 13981377 single base substitution T A downstream_gene_variant MELA-AU 6 13981378 13981378 single base substitution C T downstream_gene_variant MELA-AU 6 13981415 13981415 single base substitution C T downstream_gene_variant MELA-AU 6 13981800 13981800 single base substitution T C downstream_gene_variant MELA-AU 6 13982248 13982248 single base substitution C T downstream_gene_variant MELA-AU 6 13982687 13982687 single base substitution C T downstream_gene_variant MELA-AU 6 13982771 13982771 single base substitution G A downstream_gene_variant MELA-AU 6 13982796 13982796 single base substitution G A downstream_gene_variant MELA-AU 6 13983013 13983013 single base substitution G A downstream_gene_variant MELA-AU 6 13983140 13983140 single base substitution C T downstream_gene_variant MELA-AU 6 13983203 13983203 single base substitution C T downstream_gene_variant MELA-AU 6 13983426 13983427 multiple base substitution (>=2bp and <=200bp) TG CT downstream_gene_variant MELA-AU 6 13983668 13983668 single base substitution C T downstream_gene_variant MELA-AU 6 13983757 13983757 single base substitution G A downstream_gene_variant MELA-AU 6 13984281 13984281 single base substitution C T downstream_gene_variant MELA-AU 6 13984342 13984342 single base substitution C T downstream_gene_variant MELA-AU 6 13984879 13984879 single base substitution C T downstream_gene_variant MELA-AU 6 13984907 13984907 single base substitution C T downstream_gene_variant MELA-AU 6 13984967 13984967 single base substitution C T downstream_gene_variant MELA-AU 6 13985209 13985209 single base substitution C T downstream_gene_variant MELA-AU 6 13985396 13985396 single base substitution C T downstream_gene_variant MELA-AU 6 13985529 13985529 single base substitution C T downstream_gene_variant ORCA-IN 6 13929251 13929251 single base substitution C A intron_variant ORCA-IN 6 13939997 13939997 single base substitution A T intron_variant ORCA-IN 6 13946177 13946177 single base substitution C A intron_variant ORCA-IN 6 13983826 13983826 single base substitution C T downstream_gene_variant OV-AU 6 13922897 13922897 single base substitution T A upstream_gene_variant OV-AU 6 13925462 13925462 single base substitution C T 5_prime_UTR_variant OV-AU 6 13925462 13925462 single base substitution C T intron_variant OV-AU 6 13925702 13925702 single base substitution T C intron_variant OV-AU 6 13926102 13926102 single base substitution G T intron_variant OV-AU 6 13926595 13926595 single base substitution C T intron_variant OV-AU 6 13926666 13926666 single base substitution C A intron_variant OV-AU 6 13928609 13928609 single base substitution T A intron_variant OV-AU 6 13929141 13929141 single base substitution G A intron_variant OV-AU 6 13939938 13939938 single base substitution C A intron_variant OV-AU 6 13945142 13945142 single base substitution G A intron_variant OV-AU 6 13949270 13949270 single base substitution A G intron_variant OV-AU 6 13949455 13949455 single base substitution C A intron_variant OV-AU 6 13954200 13954200 single base substitution T C intron_variant OV-AU 6 13957886 13957886 single base substitution G C intron_variant OV-AU 6 13962054 13962054 single base substitution G T intron_variant OV-AU 6 13965663 13965663 single base substitution G C intron_variant OV-AU 6 13967868 13967868 single base substitution T C intron_variant OV-AU 6 13974197 13974197 single base substitution C A intron_variant OV-AU 6 13974527 13974527 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant OV-AU 6 13974527 13974527 single base substitution A G intron_variant OV-AU 6 13974803 13974803 single base substitution G C intron_variant OV-AU 6 13980431 13980431 single base substitution T C 3_prime_UTR_variant OV-AU 6 13980431 13980431 single base substitution T C downstream_gene_variant OV-US 6 13978055 13978055 single base substitution T C downstream_gene_variant OV-US 6 13978055 13978055 single base substitution T C synonymous_variant V235V 705T>C PACA-AU 6 13927026 13927026 single base substitution T G intron_variant PACA-AU 6 13929675 13929675 single base substitution C A intron_variant PACA-AU 6 13930566 13930566 deletion of <=200bp C - intron_variant PACA-AU 6 13931474 13931474 single base substitution G T intron_variant PACA-AU 6 13931821 13931821 single base substitution T C intron_variant PACA-AU 6 13933085 13933085 single base substitution C A intron_variant PACA-AU 6 13933230 13933230 single base substitution C T intron_variant PACA-AU 6 13934268 13934268 single base substitution A T intron_variant PACA-AU 6 13936893 13936893 single base substitution C T intron_variant PACA-AU 6 13940122 13940122 single base substitution T C intron_variant PACA-AU 6 13940510 13940510 single base substitution C A intron_variant PACA-AU 6 13944003 13944003 single base substitution G A intron_variant PACA-AU 6 13945680 13945680 single base substitution G A intron_variant PACA-AU 6 13945936 13945936 single base substitution A C intron_variant PACA-AU 6 13945993 13945993 deletion of <=200bp T - intron_variant PACA-AU 6 13951375 13951375 single base substitution C T intron_variant PACA-AU 6 13951968 13951968 single base substitution C T intron_variant PACA-AU 6 13960133 13960133 single base substitution C T intron_variant PACA-AU 6 13963876 13963876 single base substitution A G intron_variant PACA-AU 6 13963979 13963979 single base substitution G A intron_variant PACA-AU 6 13965843 13965843 single base substitution C T intron_variant PACA-AU 6 13969443 13969443 single base substitution G A intron_variant PACA-AU 6 13969476 13969476 single base substitution T A intron_variant PACA-AU 6 13974045 13974045 single base substitution C T intron_variant PACA-AU 6 13975045 13975045 single base substitution C A intron_variant PACA-AU 6 13975314 13975314 single base substitution G T intron_variant PACA-AU 6 13979924 13979924 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 6 13979924 13979924 deletion of <=200bp T - downstream_gene_variant PACA-CA 6 13927715 13927715 single base substitution A G intron_variant PACA-CA 6 13928215 13928215 single base substitution G T intron_variant PACA-CA 6 13928683 13928683 single base substitution C T intron_variant PACA-CA 6 13933650 13933650 single base substitution G T intron_variant PACA-CA 6 13936685 13936685 single base substitution G T intron_variant PACA-CA 6 13937075 13937075 single base substitution C G intron_variant PACA-CA 6 13937357 13937357 single base substitution G A intron_variant PACA-CA 6 13939112 13939112 single base substitution G C intron_variant PACA-CA 6 13939670 13939670 single base substitution T C intron_variant PACA-CA 6 13941689 13941689 single base substitution G A intron_variant PACA-CA 6 13944797 13944797 single base substitution T A intron_variant PACA-CA 6 13947267 13947267 single base substitution C T intron_variant PACA-CA 6 13948656 13948656 single base substitution A G intron_variant PACA-CA 6 13951949 13951949 single base substitution T C intron_variant PACA-CA 6 13952852 13952852 single base substitution C T intron_variant PACA-CA 6 13956958 13956958 single base substitution C G intron_variant PACA-CA 6 13957260 13957260 single base substitution A T intron_variant PACA-CA 6 13957802 13957802 single base substitution A T intron_variant PACA-CA 6 13958061 13958061 single base substitution A G intron_variant PACA-CA 6 13960521 13960521 single base substitution A C intron_variant PACA-CA 6 13962036 13962036 single base substitution G T intron_variant PACA-CA 6 13963756 13963756 single base substitution C T intron_variant PACA-CA 6 13964037 13964037 single base substitution T C intron_variant PACA-CA 6 13966075 13966075 single base substitution G A intron_variant PACA-CA 6 13970308 13970308 single base substitution C A intron_variant PACA-CA 6 13970907 13970907 single base substitution A G intron_variant PACA-CA 6 13971516 13971516 single base substitution A C intron_variant PACA-CA 6 13971881 13971881 single base substitution C T intron_variant PACA-CA 6 13972064 13972064 single base substitution G T intron_variant PACA-CA 6 13973844 13973844 single base substitution C T intron_variant PACA-CA 6 13975037 13975037 insertion of <=200bp - T intron_variant PACA-CA 6 13976866 13976866 single base substitution T C intron_variant PACA-CA 6 13979931 13979931 single base substitution A T 3_prime_UTR_variant PACA-CA 6 13979931 13979931 single base substitution A T downstream_gene_variant PACA-CA 6 13984032 13984032 deletion of <=200bp T - downstream_gene_variant PACA-CA 6 13985264 13985264 insertion of <=200bp - T downstream_gene_variant PAEN-AU 6 13929090 13929090 single base substitution T G intron_variant PAEN-AU 6 13931884 13931884 single base substitution T C intron_variant PAEN-IT 6 13959443 13959443 single base substitution G T intron_variant PAEN-IT 6 13959683 13959683 single base substitution A T intron_variant PAEN-IT 6 13965226 13965226 single base substitution C T intron_variant PBCA-DE 6 13931215 13931215 single base substitution T C intron_variant PBCA-DE 6 13931791 13931791 deletion of <=200bp A - intron_variant PBCA-DE 6 13940731 13940731 single base substitution T C intron_variant PBCA-DE 6 13942583 13942583 single base substitution T A intron_variant PBCA-DE 6 13942875 13942875 deletion of <=200bp T - intron_variant PBCA-DE 6 13945829 13945829 single base substitution A T intron_variant PBCA-DE 6 13950838 13950838 single base substitution G A intron_variant PBCA-DE 6 13956188 13956188 single base substitution C A intron_variant PBCA-DE 6 13958618 13958620 deletion of <=200bp AAT - intron_variant PBCA-DE 6 13960923 13960923 single base substitution T C intron_variant PBCA-DE 6 13965002 13965002 single base substitution G T intron_variant PBCA-DE 6 13967063 13967064 deletion of <=200bp GT - intron_variant PBCA-DE 6 13971972 13971972 single base substitution T G intron_variant PBCA-DE 6 13974928 13974928 single base substitution G T intron_variant PBCA-DE 6 13984747 13984747 single base substitution G C downstream_gene_variant PRAD-CA 6 13929143 13929143 single base substitution A C intron_variant PRAD-CA 6 13960889 13960889 single base substitution T A intron_variant PRAD-CA 6 13960891 13960891 single base substitution T A intron_variant PRAD-UK 6 13927520 13927520 single base substitution C A intron_variant PRAD-UK 6 13932485 13932485 single base substitution G T intron_variant PRAD-UK 6 13934755 13934755 insertion of <=200bp - T intron_variant PRAD-UK 6 13940695 13940695 single base substitution C T intron_variant PRAD-UK 6 13948967 13948967 single base substitution A T intron_variant PRAD-UK 6 13961519 13961519 single base substitution C A intron_variant PRAD-UK 6 13965081 13965081 single base substitution C T intron_variant PRAD-UK 6 13968152 13968152 single base substitution A G intron_variant PRAD-UK 6 13972782 13972782 single base substitution G A intron_variant PRAD-UK 6 13982302 13982302 single base substitution T C downstream_gene_variant PRAD-UK 6 13982471 13982471 single base substitution G T downstream_gene_variant PRAD-UK 6 13983874 13983874 single base substitution T G downstream_gene_variant RECA-EU 6 13933551 13933551 single base substitution A C intron_variant RECA-EU 6 13936506 13936506 single base substitution A T intron_variant RECA-EU 6 13942944 13942944 single base substitution C T intron_variant RECA-EU 6 13952924 13952924 single base substitution G T intron_variant RECA-EU 6 13960889 13960889 single base substitution T A intron_variant RECA-EU 6 13963670 13963670 single base substitution A T intron_variant RECA-EU 6 13974074 13974074 single base substitution C T intron_variant SKCA-BR 6 13921830 13921830 single base substitution G A upstream_gene_variant SKCA-BR 6 13923407 13923407 single base substitution C T upstream_gene_variant SKCA-BR 6 13927026 13927026 single base substitution T G intron_variant SKCA-BR 6 13927101 13927101 single base substitution G A intron_variant SKCA-BR 6 13930783 13930783 single base substitution C T intron_variant SKCA-BR 6 13932447 13932447 single base substitution C T intron_variant SKCA-BR 6 13934398 13934398 single base substitution A C intron_variant SKCA-BR 6 13935520 13935520 single base substitution G A intron_variant SKCA-BR 6 13937210 13937210 single base substitution T G intron_variant SKCA-BR 6 13937215 13937215 single base substitution T G intron_variant SKCA-BR 6 13937334 13937334 single base substitution T C intron_variant SKCA-BR 6 13939848 13939848 single base substitution C G intron_variant SKCA-BR 6 13944519 13944519 single base substitution G C intron_variant SKCA-BR 6 13944572 13944572 single base substitution G C intron_variant SKCA-BR 6 13946629 13946629 single base substitution C T intron_variant SKCA-BR 6 13946965 13946965 single base substitution C T intron_variant SKCA-BR 6 13947968 13947968 single base substitution C T intron_variant SKCA-BR 6 13948422 13948422 single base substitution C T intron_variant SKCA-BR 6 13950729 13950729 insertion of <=200bp - CTT intron_variant SKCA-BR 6 13950763 13950763 single base substitution C T intron_variant SKCA-BR 6 13953734 13953734 single base substitution G A intron_variant SKCA-BR 6 13953735 13953735 single base substitution G A intron_variant SKCA-BR 6 13954582 13954582 single base substitution C T intron_variant SKCA-BR 6 13954797 13954797 single base substitution A T intron_variant SKCA-BR 6 13955186 13955186 single base substitution C T intron_variant SKCA-BR 6 13957027 13957027 single base substitution G A intron_variant SKCA-BR 6 13958802 13958802 single base substitution T G intron_variant SKCA-BR 6 13958906 13958906 single base substitution G A intron_variant SKCA-BR 6 13960919 13960919 insertion of <=200bp - TGC intron_variant SKCA-BR 6 13961585 13961585 single base substitution G A intron_variant SKCA-BR 6 13963558 13963558 single base substitution C A intron_variant SKCA-BR 6 13964731 13964731 single base substitution C G intron_variant SKCA-BR 6 13965050 13965050 single base substitution G A intron_variant SKCA-BR 6 13965079 13965079 single base substitution T G intron_variant SKCA-BR 6 13969336 13969336 insertion of <=200bp - TTTG intron_variant SKCA-BR 6 13969890 13969890 single base substitution G T intron_variant SKCA-BR 6 13970714 13970714 single base substitution C T intron_variant SKCA-BR 6 13971141 13971141 single base substitution C T intron_variant SKCA-BR 6 13974896 13974896 single base substitution G A intron_variant SKCA-BR 6 13974897 13974897 single base substitution G A intron_variant SKCA-BR 6 13977722 13977722 single base substitution G A downstream_gene_variant SKCA-BR 6 13977722 13977722 single base substitution G A synonymous_variant T124T 372G>A SKCA-BR 6 13978588 13978588 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 13978588 13978588 single base substitution C T downstream_gene_variant SKCA-BR 6 13978592 13978592 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 13978592 13978592 single base substitution C T downstream_gene_variant SKCA-BR 6 13983827 13983827 single base substitution G A downstream_gene_variant SKCA-BR 6 13983901 13983901 single base substitution G A downstream_gene_variant SKCM-US 6 13977521 13977521 single base substitution C T downstream_gene_variant SKCM-US 6 13977521 13977521 single base substitution C T synonymous_variant S57S 171C>T SKCM-US 6 13977612 13977612 single base substitution C T downstream_gene_variant SKCM-US 6 13977612 13977612 single base substitution C T missense_variant L88F 262C>T SKCM-US 6 13977773 13977773 single base substitution C T downstream_gene_variant SKCM-US 6 13977773 13977773 single base substitution C T synonymous_variant S141S 423C>T SKCM-US 6 13977949 13977949 single base substitution G A downstream_gene_variant SKCM-US 6 13977949 13977949 single base substitution G A missense_variant G200E 599G>A SKCM-US 6 13978059 13978059 single base substitution C T downstream_gene_variant SKCM-US 6 13978059 13978059 single base substitution C T missense_variant H237Y 709C>T STAD-US 6 13977379 13977379 single base substitution C T missense_variant A10V 29C>T STAD-US 6 13977616 13977616 single base substitution T G downstream_gene_variant STAD-US 6 13977616 13977616 single base substitution T G missense_variant V89G 266T>G STAD-US 6 13977677 13977677 single base substitution G T downstream_gene_variant STAD-US 6 13977677 13977677 single base substitution G T synonymous_variant L109L 327G>T STAD-US 6 13977682 13977682 deletion of <=200bp C - downstream_gene_variant STAD-US 6 13977682 13977682 deletion of <=200bp C - frameshift_variant T111 STAD-US 6 13977703 13977703 single base substitution T C downstream_gene_variant STAD-US 6 13977703 13977703 single base substitution T C missense_variant L118P 353T>C STAD-US 6 13977897 13977897 single base substitution C T downstream_gene_variant STAD-US 6 13977897 13977897 single base substitution C T missense_variant R183W 547C>T THCA-SA 6 13978854 13978854 single base substitution G T 3_prime_UTR_variant THCA-SA 6 13978854 13978854 single base substitution G T downstream_gene_variant THCA-SA 6 13979526 13979526 single base substitution A G 3_prime_UTR_variant THCA-SA 6 13979526 13979526 single base substitution A G downstream_gene_variant UCEC-US 6 13977579 13977579 single base substitution G T downstream_gene_variant UCEC-US 6 13977579 13977579 single base substitution G T stop_gained E77* 229G>T UCEC-US 6 13977624 13977624 single base substitution A C downstream_gene_variant UCEC-US 6 13977624 13977624 single base substitution A C missense_variant T92P 274A>C UCEC-US 6 13977801 13977801 single base substitution G T downstream_gene_variant UCEC-US 6 13977801 13977801 single base substitution G T stop_gained E151* 451G>T UCEC-US 6 13977825 13977825 single base substitution G A downstream_gene_variant UCEC-US 6 13977825 13977825 single base substitution G A missense_variant D159N 475G>A UCEC-US 6 13978019 13978019 single base substitution C T downstream_gene_variant UCEC-US 6 13978019 13978019 single base substitution C T synonymous_variant L223L 669C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-3530-01 COSM291891 c.426G>A p.P142P Substitution - coding silent 6:13977545-13977545 + TCGA-CC-5263-01 COSM4919448 c.45T>C p.S15S Substitution - coding silent 6:13977164-13977164 + sysucc-311T COSM5466686 c.159C>A p.D53E Substitution - Missense 6:13977278-13977278 + TCGA-B5-A11N-01 COSM1073915 c.475G>A p.D159N Substitution - Missense 6:13977594-13977594 + TCGA-CM-6167-01 COSM1440858 c.372G>A p.T124T Substitution - coding silent 6:13977491-13977491 + YUAKER COSM1696936 c.662C>T p.S221L Substitution - Missense 6:13977781-13977781 + CSCC-27-T COSM4550933 c.513G>A p.W171* Substitution - Nonsense 6:13977632-13977632 + T222 COSM1440853 c.77G>A p.R26Q Substitution - Missense 6:13977196-13977196 + HN_62897 COSM127066 c.742T>A p.*248K Nonstop extension 6:13977861-13977861 + TCGA-EE-A3AE-06 COSM3621154 c.709C>T p.H237Y Substitution - Missense 6:13977828-13977828 + TCGA-A8-A0A6-01 COSM3829175 c.591A>C p.L197F Substitution - Missense 6:13977710-13977710 + CHC433T COSM217372 c.132T>A p.C44* Substitution - Nonsense 6:13977251-13977251 + 220 COSM4425256 c.432G>C p.L144L Substitution - coding silent 6:13977551-13977551 + 182896AML COSM1963605 c.522G>A p.T174T Substitution - coding silent 6:13977641-13977641 + ML_86_T_01 COSM1440858 c.372G>A p.T124T Substitution - coding silent 6:13977491-13977491 + TCGA-D3-A1Q6-06 COSM3621152 c.423C>T p.S141S Substitution - coding silent 6:13977542-13977542 + tumor_4182393 COSM1161587 c.663G>A p.S221S Substitution - coding silent 6:13977782-13977782 + TCGA-AX-A0J0-01 COSM1073913 c.274A>C p.T92P Substitution - Missense 6:13977393-13977393 + TCGA-AA-A010-01 COSM284625 c.36T>A p.S12S Substitution - coding silent 6:13977155-13977155 + CHC433T COSM217372 c.132T>A p.C44* Substitution - Nonsense 6:13977251-13977251 + PD7530a COSM3769718 c.543C>T p.S181S Substitution - coding silent 6:13977662-13977662 + Mx41 COSM32395 c.128T>C p.V43A Substitution - Missense 6:13977247-13977247 + S00501 COSM5658497 c.370A>G p.T124A Substitution - Missense 6:13977489-13977489 + TCGA-DR-A0ZM-01 COSM461889 c.415G>C p.E139Q Substitution - Missense 6:13977534-13977534 + TCGA-EE-A29E-06 COSM3621153 c.599G>A p.G200E Substitution - Missense 6:13977718-13977718 + HCT15 COSM1672247 c.76C>T p.R26* Substitution - Nonsense 6:13977195-13977195 + TCGA-BR-4256-01 COSM3858667 c.547C>T p.R183W Substitution - Missense 6:13977666-13977666 + 40M COSM5586429 c.159C>T p.D53D Substitution - coding silent 6:13977278-13977278 + TCGA-DM-A1HB-01 COSM5169341 c.301C>A p.L101M Substitution - Missense 6:13977420-13977420 + Pat_41_B COSM5869431 c.406G>A p.V136M Substitution - Missense 6:13977525-13977525 + TCGA-B5-A0JY-01 COSM1073914 c.451G>T p.E151* Substitution - Nonsense 6:13977570-13977570 + TCGA-FW-A3R5-06 COSM3920803 c.262C>T p.L88F Substitution - Missense 6:13977381-13977381 + Z138 COSM1739293 c.119G>T p.C40F Substitution - Missense 6:13977238-13977238 + CHC892T COSM4796487 c.429C>T p.S143S Substitution - coding silent 6:13977548-13977548 + TCGA-CD-A48A-01 COSM3858664 c.266T>G p.V89G Substitution - Missense 6:13977385-13977385 + Mx42 COSM32822 c.173C>T p.P58L Substitution - Missense 6:13977292-13977292 + LUAD-YINHD COSM351326 c.367C>T p.H123Y Substitution - Missense 6:13977486-13977486 + TCGA-D8-A1X5-01 COSM1487279 c.573G>T p.L191F Substitution - Missense 6:13977692-13977692 + SNUH_G16_S1 COSM3016562 c.273G>A p.L91L Substitution - coding silent 6:13977392-13977392 + CHC892T COSM4796487 c.429C>T p.S143S Substitution - coding silent 6:13977548-13977548 + LIM2551 COSM4644712 c.353T>G p.L118R Substitution - Missense 6:13977472-13977472 + TCGA-39-5016-01 COSM740802 c.18T>G p.P6P Substitution - coding silent 6:13977137-13977137 + TCGA-AA-3558-01 COSM292447 c.670G>A p.V224I Substitution - Missense 6:13977789-13977789 + TCGA-C8-A1HM-01 COSM450593 c.733C>A p.P245T Substitution - Missense 6:13977852-13977852 + TCGA-AX-A05Z-01 COSM1073912 c.229G>T p.E77* Substitution - Nonsense 6:13977348-13977348 + HCC119 COSM1620986 c.270C>G p.N90K Substitution - Missense 6:13977389-13977389 + T3094 COSM4722063 c.502T>C p.W168R Substitution - Missense 6:13977621-13977621 + TCGA-EE-A182-06 COSM3621151 c.171C>T p.S57S Substitution - coding silent 6:13977290-13977290 + TCGA-FP-8099-01 COSM3858663 c.29C>T p.A10V Substitution - Missense 6:13977148-13977148 + Pat_63_B COSM5040347 c.637G>A p.V213I Substitution - Missense 6:13977756-13977756 + TCGA-A7-A13E-01 COSM3829174 c.246C>G p.P82P Substitution - coding silent 6:13977365-13977365 + YUDON COSM4956747 c.425C>T p.P142L Substitution - Missense 6:13977544-13977544 + TCGA-AZ-4315-01 COSM1440853 c.77G>A p.R26Q Substitution - Missense 6:13977196-13977196 + LN18 COSM1672247 c.76C>T p.R26* Substitution - Nonsense 6:13977195-13977195 + TCGA-BR-8382-01 COSM3858666 c.353T>C p.L118P Substitution - Missense 6:13977472-13977472 + CHEWS004 COSM4586273 c.239G>T p.S80I Substitution - Missense 6:13977358-13977358 + CHC909T COSM4722063 c.502T>C p.W168R Substitution - Missense 6:13977621-13977621 + TCGA-BS-A0UF-01 COSM1073916 c.669C>T p.L223L Substitution - coding silent 6:13977788-13977788 + DLD1 COSM3016571 c.628A>G p.T210A Substitution - Missense 6:13977747-13977747 + DLD1 COSM1672247 c.76C>T p.R26* Substitution - Nonsense 6:13977195-13977195 + CHC2112T COSM4956747 c.425C>T p.P142L Substitution - Missense 6:13977544-13977544 + TCGA-HU-8243-01 COSM3858665 c.327G>T p.L109L Substitution - coding silent 6:13977446-13977446 + HCC119T COSM1620986 c.270C>G p.N90K Substitution - Missense 6:13977389-13977389 + TCGA-24-1470-01 COSM81664 c.705T>C p.V235V Substitution - coding silent 6:13977824-13977824 + HCT-15 COSM1672247 c.76C>T p.R26* Substitution - Nonsense 6:13977195-13977195 + HCC039T COSM5624938 c.409C>A p.Q137K Substitution - Missense 6:13977528-13977528 + CHC909T COSM4722063 c.502T>C p.W168R Substitution - Missense 6:13977621-13977621 + TCGA-FD-A3SP-01 COSM3777157 c.157G>C p.D53H Substitution - Missense 6:13977276-13977276 + 9087_T COSM5040556 c.653T>A p.L218Q Substitution - Missense 6:13977772-13977772 + ME045T COSM229488 c.542C>T p.S181F Substitution - Missense 6:13977661-13977661 + TCGA-ER-A19B-06 COSM3621153 c.599G>A p.G200E Substitution - Missense 6:13977718-13977718 + EGC3 COSM5061453 c.409_410insAG p.S140fs*6 Insertion - Frameshift 6:13977528-13977529 + TCGA-BT-A3PH-01 COSM1311616 c.35C>G p.S12C Substitution - Missense 6:13977154-13977154 + ESCC_12 COSM5624938 c.409C>A p.Q137K Substitution - Missense 6:13977528-13977528 + TCGA-AZ-4313-01 COSM5138911 c.613G>C p.V205L Substitution - Missense 6:13977732-13977732 + D16 COSM5007125 c.606C>A p.Y202* Substitution - Nonsense 6:13977725-13977725 + 9087_T COSM5040347 c.637G>A p.V213I Substitution - Missense 6:13977756-13977756 + CHC2112T COSM4956747 c.425C>T p.P142L Substitution - Missense 6:13977544-13977544 + HCT15 COSM3016571 c.628A>G p.T210A Substitution - Missense 6:13977747-13977747 + HCT8 COSM1672247 c.76C>T p.R26* Substitution - Nonsense 6:13977195-13977195 + 587284 COSM1223945 c.152T>C p.I51T Substitution - Missense 6:13977271-13977271 + YUMUL COSM5404486 c.546C>T p.I182I Substitution - coding silent 6:13977665-13977665 + TCGA-D8-A1JN-01 COSM1487278 c.352C>G p.L118V Substitution - Missense 6:13977471-13977471 + TCGA-A6-3810-01 COSM291426 c.193C>T p.P65S Substitution - Missense 6:13977312-13977312 + TCGA-E9-A22B-01 COSM1487277 c.226G>A p.D76N Substitution - Missense 6:13977345-13977345 + CHC433T COSM217372 c.132T>A p.C44* Substitution - Nonsense 6:13977251-13977251 + 4537_T COSM3948086 c.548G>A p.R183Q Substitution - Missense 6:13977667-13977667 + T2269 COSM4722064 c.651C>A p.S217R Substitution - Missense 6:13977770-13977770 + BD72T COSM5512193 c.5C>T p.A2V Substitution - Missense 6:13977124-13977124 + TCGA-AR-A1AH-01 COSM450592 c.148A>C p.K50Q Substitution - Missense 6:13977267-13977267 + TCGA-22-4595-01 COSM740801 c.518G>A p.C173Y Substitution - Missense 6:13977637-13977637 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.111164 6p23

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K50Q c.148A>C 6 13977498 BRCA C G Missense p.L118V c.352C>G 6 13977702 BRCA C G Missense p.S12C c.35C>G 6 13977385 BLCA C T Missense p.H237Y c.709C>T 6 13978059 CM C T Missense p.P34S c.100C>T 6 13977450 CM C T Missense p.P58L c.173C>T 6 13977523 COREAD C T Missense p.P65S c.193C>T 6 13977543 COREAD C T Missense p.R183W c.547C>T 6 13977897 STAD C T Missense p.S181F c.542C>T 6 13977892 CM C T Synonymous p.F66F c.198C>T 6 13977548 CM C T Synonymous p.S141S c.423C>T 6 13977773 CM C T Synonymous p.S196S c.588C>T 6 13977938 CM C T Synonymous p.S57S c.171C>T 6 13977521 CM G A Missense p.C173Y c.518G>A 6 13977868 LUSC G A Missense p.D76N c.226G>A 6 13977576 BRCA G A Missense p.G200E c.599G>A 6 13977949 CM G A Missense p.G97R c.289G>A 6 13977639 HNSC G A Missense p.V224I c.670G>A 6 13978020 COREAD G A Synonymous p.P142P c.426G>A 6 13977776 COREAD GG AA Missense p.R42K c.125_126delinsAA 6 13977475 CM G T Missense p.L191F c.573G>T 6 13977923 BRCA G T Missense p.V61F c.181G>T 6 13977531 HNSC T A 3-UTRSNV . c.741+1T>A 6 13978092 HNSC T C 3-UTRSNV . c.741+1601T>C 6 13979692 HC T C Missense p.I52T c.155T>C 6 13977505 CM T C Missense p.V43A c.128T>C 6 13977478 COREAD T C Synonymous p.V235V c.705T>C 6 13978055 OV T G Synonymous p.P6P c.18T>G 6 13977368 LUSC