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 PSG7 5676 broad.mit.edu 37 19 43439887 43439887 + RNA SNP T T A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr19:43439887T>A ENST00000406070.2 - 0 195 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TGACTTGGGCTGTGGTGGGCG 0.493000 5 182 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52855033 52855033 + RNA SNP A A G TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr13:52855033A>G ENST00000451298.1 - 0 396 RP11-64P12.8_ENST00000606031.1_RNA GTCTTTTTAGATGAGCCAGAT 0.343000 6 14 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123939 26123939 + Missense_Mutation SNP G G T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr6:26123939G>T ENST00000314332.5 - 1 199 c.194C>A c.(193-195)tCt>tAt p.S65Y HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65Y P62807 H2B1C_HUMAN histone cluster 1, H2bc 65 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.S65Y(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 GTTAACGAAAGAATTCATGAT 0.562000 50 115 3.21987e-24 3.62236e-24 1 1 0 KDM5A 5927 broad.mit.edu 37 12 464375 464375 + Silent SNP G G A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr12:464375G>A ENST00000399788.2 - 7 1181 c.819C>T c.(817-819)gaC>gaT p.D273D KDM5A_ENST00000382815.4_Silent_p.D273D NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 273 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TGTTAAATGCGTCTGACCTGT 0.373000 T NUP98 AML 6 67 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132272835 132272835 + Missense_Mutation SNP C C T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr5:132272835C>T ENST00000265343.5 - 2 426 c.47G>A c.(46-48)aGg>aAg p.R16K AFF4_ENST00000378595.3_Missense_Mutation_p.R16K|AFF4_ENST00000491831.1_5'UTR NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 16 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGATTCCGCCTTTCCCGTTC 0.433000 5 35 0 0 1 0 0 MED30 90390 broad.mit.edu 37 8 118533175 118533175 + Missense_Mutation SNP G G C TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr8:118533175G>C ENST00000297347.3 + 1 224 c.60G>C c.(58-60)caG>caC p.Q20H MED30_ENST00000522839.1_Missense_Mutation_p.Q20H NM_080651.2 NP_542382.1 Q96HR3 MED30_HUMAN mediator complex subunit 30 20 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding kidney(1)|lung(3)|prostate(3) 7 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) CCGGGCCCCAGGCTCAGCAGG 0.706000 5 24 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52339183 52339183 + Missense_Mutation SNP C C T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr15:52339183C>T ENST00000261845.5 + 2 1333 c.526C>T c.(526-528)Cgg>Tgg p.R176W NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 176 Protein kinase. cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) TGGTCTTGCACGGATCATGGA 0.383000 24 64 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 26 0 0 1 0 0 ATP1B4 23439 broad.mit.edu 37 X 119505020 119505020 + Missense_Mutation SNP G G C TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chrX:119505020G>C ENST00000218008.3 + 4 574 c.517G>C c.(517-519)Gac>Cac p.D173H ATP1B4_ENST00000539306.1_Missense_Mutation_p.D130H|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D169H NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 173 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TTCTGAACCCGACACTTGGCA 0.428000 11 52 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3237362 3237362 + Missense_Mutation SNP G G T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr4:3237362G>T ENST00000355072.5 + 63 8787 c.8642G>T c.(8641-8643)gGc>gTc p.G2881V NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2881 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCCCTCAGAGGCCTGGAGCGC 0.597000 10 23 4.68919e-08 4.96502e-08 1 1 0 FAM167A 83648 broad.mit.edu 37 8 11282013 11282013 + Nonsense_Mutation SNP C C A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr8:11282013C>A ENST00000284486.4 - 3 1052 c.514G>T c.(514-516)Gag>Tag p.E172* FAM167A_ENST00000531564.1_5'UTR|FAM167A_ENST00000528897.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000534308.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000529305.1_Intron NM_053279.2 NP_444509.2 Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 172 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 TCCCGCTCCTCCAGCTCGTAG 0.577000 4 47 1 1 1 1 0 BARHL1 56751 broad.mit.edu 37 9 135458232 135458232 + Silent SNP C C T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr9:135458232C>T ENST00000263610.2 + 1 661 c.48C>T c.(46-48)cgC>cgT p.R16R BARHL1_ENST00000542090.1_Silent_p.R16R NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 16 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(2)|skin(3) 8 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) TCTCCCACCGCGCGGGCAGCC 0.657000 24 62 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 3 13 0 0 1 0 0 DBF4 10926 broad.mit.edu 37 7 87514300 87514302 + In_Frame_Del DEL GAA GAA - TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr7:87514300_87514302delGAA ENST00000265728.1 + 3 730_732 c.226_228delGAA c.(226-228)del p.E77del NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 77 BRCT 1. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) CTAGCGAGTTGAAGAATTTCTCA 0.350 10 41 --- --- --- ---