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 SEMG1 6406 broad.mit.edu 37 20 43836069 43836069 + Missense_Mutation SNP A A G TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr20:43836069A>G ENST00000372781.3 + 2 188 c.131A>G c.(130-132)aAg>aGg p.K44R SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CACGGACAAAAGGGCCAGCAC 0.388000 4 136 0 0 0.000602 0 0 RBM15 64783 broad.mit.edu 37 1 110882203 110882203 + Missense_Mutation SNP G G A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:110882203G>A ENST00000369784.3 + 1 1076 c.176G>A c.(175-177)cGt>cAt p.R59H RBM15_ENST00000487146.2_Missense_Mutation_p.R59H|RBM15_ENST00000602849.1_Missense_Mutation_p.R59H NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 59 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AAACGCTCCCGTGGTGGTGAG 0.647000 T MKL1 acute megakaryocytic leukemia 4 59 0 0 0.009096 0 0 LY9 4063 broad.mit.edu 37 1 160769618 160769618 + Missense_Mutation SNP T T C TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:160769618T>C ENST00000263285.5 + 2 230 c.200T>C c.(199-201)cTa>cCa p.L67P LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 67 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACTCTCCCCCTAAACATCTCA 0.498000 3 76 0 0 0.009096 0 0 GATA1 2623 broad.mit.edu 37 X 48650528 48650528 + Silent SNP T T C TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chrX:48650528T>C ENST00000376670.3 + 3 609 c.498T>C c.(496-498)ccT>ccC p.P166P GATA1_ENST00000376665.3_Silent_p.P166P NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 166 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 ATGGGGGCCCTGACTTTTCCA 0.582000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 3 50 0 0 0.009096 0 0 ZNF208 7757 broad.mit.edu 37 19 22156811 22156811 + Missense_Mutation SNP T T C TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr19:22156811T>C ENST00000397126.4 - 4 1173 c.1025A>G c.(1024-1026)aAa>aGa p.K342R ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTCTTTACATTTGTAGGGCTT 0.403000 4 30 0 0 0.000602 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 3 5 --- --- --- --- RP11-739N20.2 0 broad.mit.edu 37 1 204363980 204363980 + RNA DEL A A - TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:204363980delA ENST00000443515.1 + 0 146 tttgtttttcaaaaaaaaaaa 0.308 3 5 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGGCTGACCCTTGGGTCCTGGG 0.653 7 46 --- --- --- ---