Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ANKRD36 375248 broad.mit.edu 37 2 97856721 97856721 + Missense_Mutation SNP C C A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:97856721C>A ENST00000420699.2 + 35 2496 c.2252C>A c.(2251-2253)tCt>tAt p.S751Y ANKRD36_ENST00000461153.2_Missense_Mutation_p.S751Y NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 751 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TCAGTGTCTTCTCAGAAACAA 0.299000 3 11 0.0215528 0.0222059 1 1 0 EGLN1 54583 broad.mit.edu 37 1 231556829 231556829 + Missense_Mutation SNP A A G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:231556829A>G ENST00000366641.3 - 1 3961 c.806T>C c.(805-807)aTt>aCt p.I269T NM_022051.2 NP_071334.1 Q9GZT9 EGLN1_HUMAN egl-9 family hypoxia-inducible factor 1 269 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) GAGCAGCCCAATGGTTTCGCA 0.577000 9 45 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171076862 171076862 + Missense_Mutation SNP G G C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:171076862G>C ENST00000367755.4 + 4 479 c.368G>C c.(367-369)gGc>gCc p.G123A FMO3_ENST00000538429.1_Missense_Mutation_p.G60A|FMO3_ENST00000542847.1_Missense_Mutation_p.G103A|FMO3_ENST00000392085.2_Missense_Mutation_p.G123A NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 123 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCAACTACTGGCCAGTGGGAT 0.398000 14 42 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369200 158369200 + Silent SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:158369200G>A ENST00000334438.1 - 1 56 c.57C>T c.(55-57)tcC>tcT p.S19S NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CCCCCAGGCTGGAGAAACCCA 0.458000 10 9 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149227977 149227977 + Missense_Mutation SNP C C G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:149227977C>G ENST00000407073.1 + 9 3462 c.2465C>G c.(2464-2466)cCa>cGa p.P822R MBD5_ENST00000404807.1_Missense_Mutation_p.P822R NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 822 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCCTCCACTCCAGTGATACCA 0.423000 16 31 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 5 84 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100912716 100912716 + Missense_Mutation SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr11:100912716C>T ENST00000325455.5 - 7 4059 c.2606G>A c.(2605-2607)cGt>cAt p.R869H PGR_ENST00000534013.1_Missense_Mutation_p.R275H|PGR_ENST00000263463.5_Missense_Mutation_p.R767H NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 869 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTGATAGAAACGCTGTGAGCT 0.368000 9 15 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16261761 16261761 + Missense_Mutation SNP C C G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:16261761C>G ENST00000375759.3 + 11 9230 c.9026C>G c.(9025-9027)gCa>gGa p.A3009G NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3009 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGCATCCCAGCAGATCGAACT 0.617000 9 31 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123518383 123518383 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chrX:123518383T>C ENST00000422452.2 - 30 6461 c.6398A>G c.(6397-6399)cAa>cGa p.Q2133R STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.Q2126R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATTATCATATTGAATGGTCAT 0.398000 4 117 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18150576 18150576 + Silent SNP C C G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr17:18150576C>G ENST00000327031.4 - 21 2808 c.2583G>C c.(2581-2583)ggG>ggC p.G861G FLII_ENST00000545457.2_Silent_p.G806G|FLII_ENST00000579294.1_Silent_p.G850G|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.G775G NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 861 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GTTTCACCTTCCCGGAGAGAC 0.622000 12 30 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215792612 215792612 + Missense_Mutation SNP A A G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:215792612A>G ENST00000259154.4 + 17 2159 c.1865A>G c.(1864-1866)cAc>cGc p.H622R KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 622 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CAGCATAGCCACTTACGAGAA 0.363000 14 75 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 100 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39613293 39613293 + Missense_Mutation SNP C C A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr8:39613293C>A ENST00000265708.4 - 16 1854 c.1751G>T c.(1750-1752)aGc>aTc p.S584I ADAM2_ENST00000347580.4_Missense_Mutation_p.S565I|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000379853.2_Missense_Mutation_p.S428I NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 584 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CATCTTTTGGCTGTCTGCATG 0.348000 9 66 0.0477658 0.0477658 1 1 0 MCC 4163 broad.mit.edu 37 5 112824054 112824054 + Missense_Mutation SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr5:112824054C>T ENST00000408903.3 - 1 473 c.58G>A c.(58-60)Ggc>Agc p.G20S NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 548 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.G20S(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ccgctgccgccgccgccgccg 0.756000 3 10 0 0 1 0 0 CYP2A7 1549 broad.mit.edu 37 19 41387998 41387998 + Silent SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr19:41387998G>A ENST00000301146.4 - 1 659 c.118C>T c.(118-120)Ctg>Ttg p.L40L CYP2A7_ENST00000291764.3_Silent_p.L40L|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 40 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ATGAAGGGCAGTGGGGTGGGT 0.587000 3 41 0 0 1 0 0 CACYBP 27101 broad.mit.edu 37 1 174977818 174977818 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:174977818T>C ENST00000367681.2 + 5 1017 c.377T>C c.(376-378)gTt>gCt p.V126A CACYBP_ENST00000405362.1_Missense_Mutation_p.V126A|CACYBP_ENST00000367679.2_Missense_Mutation_p.V169A NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 169 CS.|Interaction with SKP1. beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 CTGACCCAGGTTGAAAAGGAG 0.333000 10 29 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087339 9087339 + Missense_Mutation SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr19:9087339C>T ENST00000397910.4 - 1 4679 c.4476G>A c.(4474-4476)atG>atA p.M1492I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1492 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGGTGTGGACATAGGTGGAA 0.423000 50 65 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54452061 54452061 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr17:54452061T>C ENST00000566473.2 + 7 905 c.905T>C c.(904-906)gTa>gCa p.V302A ANKFN1_ENST00000318698.2_Missense_Mutation_p.V302A Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 302 Fibronectin type-III. NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GCAGCTGTAGTAACCAGGTAT 0.448000 19 46 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735860 12735860 + Missense_Mutation SNP C C G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chrX:12735860C>G ENST00000380682.1 + 16 3421 c.2915C>G c.(2914-2916)gCt>gGt p.A972G NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 972 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CACGCCCTGGCTGCTAGGCCA 0.597000 5 78 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 100 0 0 1 0 0 ALKBH1 8846 broad.mit.edu 37 14 78174291 78174291 + Silent SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr14:78174291C>T ENST00000216489.3 - 1 72 c.57G>A c.(55-57)ggG>ggA p.G19G NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 19 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AGGCGTCCTCCCCGGGCTCAG 0.652000 6 42 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23906391 23906391 + Missense_Mutation SNP C C A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr13:23906391C>A ENST00000382298.3 - 10 12212 c.11624G>T c.(11623-11625)cGt>cTt p.R3875L SACS_ENST00000402364.1_Missense_Mutation_p.R3125L|SACS_ENST00000382292.3_Missense_Mutation_p.R3875L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3875 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTTAACTGTACGCATTTCATT 0.383000 21 107 3.62473e-10 3.97551e-10 1 1 0 WDR64 128025 broad.mit.edu 37 1 241886684 241886684 + Silent SNP C C T rs142859030 by1000genomes TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:241886684C>T ENST00000366552.2 + 9 1317 c.1110C>T c.(1108-1110)gcC>gcT p.A370A WDR64_ENST00000437684.2_Silent_p.A370A NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 370 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TCAGTATCGCCGAGATCGTAA 0.418000 4 24 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950986 235950986 + Missense_Mutation SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:235950986G>A ENST00000409212.1 + 4 2080 c.1573G>A c.(1573-1575)Ggg>Agg p.G525R SH3BP4_ENST00000392011.2_Missense_Mutation_p.G525R|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G525R Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 525 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GCAGCTGTGGGGGAAGCACCA 0.572000 8 42 0 0 1 0 0 TM2D1 83941 broad.mit.edu 37 1 62190656 62190656 + Missense_Mutation SNP A A C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:62190656A>C ENST00000371177.2 - 1 149 c.137T>G c.(136-138)cTt>cGt p.L46R TM2D1_ENST00000294613.5_Missense_Mutation_p.L46R|TM2D1_ENST00000371180.2_Missense_Mutation_p.L108R|TM2D1_ENST00000606498.1_Missense_Mutation_p.L46R Q9BX74 TM2D1_HUMAN TM2 domain containing 1 46 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 CTCGCACTTAAGCGACTCCTC 0.637000 3 34 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91866581 91866581 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:91866581T>C ENST00000370425.3 - 2 157 c.59A>G c.(58-60)gAt>gGt p.D20G HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 20 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTCAACTTCATCTGGTTTTTC 0.299000 4 9 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33466940 33466940 + Silent SNP G G C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr9:33466940G>C ENST00000379471.2 - 15 2007 c.1920C>G c.(1918-1920)ccC>ccG p.P640P NOL6_ENST00000455041.2_Silent_p.P588P|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 640 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GTGCATCCAGGGGGCCCCCCA 0.517000 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 238 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54966508 54966508 + Missense_Mutation SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr12:54966508C>T ENST00000243052.3 + 7 1154 c.718C>T c.(718-720)Ctc>Ttc p.L240F PDE1B_ENST00000538346.1_Missense_Mutation_p.L199F|PDE1B_ENST00000550620.1_Missense_Mutation_p.L220F|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 240 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TTGCTTCTTGCTCCGCACAGG 0.517000 6 150 0 0 1 0 0 YWHAQ 10971 broad.mit.edu 37 2 9728380 9728380 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:9728380T>C ENST00000381844.4 - 3 659 c.496A>G c.(496-498)Atc>Gtc p.I166V YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166V|YWHAQ_ENST00000474715.1_5'UTR P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 166 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) CCCAGGCGGATTGGGTGTGTG 0.423000 4 53 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552237 102552237 + Silent SNP A A T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr14:102552237A>T ENST00000334701.7 - 4 1034 c.753T>A c.(751-753)tcT>tcA p.S251S HSP90AA1_ENST00000216281.8_Silent_p.S129S|HSP90AA1_ENST00000441629.2_Intron NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 129 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GGCCAATCATAGAGATATCTG 0.448000 39 50 0 0 1 0 0 SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 2 4 --- --- --- --- IRF7 3665 broad.mit.edu 37 11 613833 613833 + Frame_Shift_Del DEL C C - TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr11:613833delC ENST00000397566.1 - 6 1247 c.838delG c.(838-840)cafs p.A280fs IRF7_ENST00000525445.1_Frame_Shift_Del_p.A161fs|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Frame_Shift_Del_p.A238fs|IRF7_ENST00000397574.2_Frame_Shift_Del_p.A267fs|IRF7_ENST00000348655.6_Frame_Shift_Del_p.A238fs|IRF7_ENST00000330243.5_Frame_Shift_Del_p.A280fs NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 267 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TACGGCTCTGCCTGGTGCGGG 0.697 2 4 --- --- --- ---