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 FSCB 84075 broad.mit.edu 37 14 44974999 44974999 + Missense_Mutation SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr14:44974999G>A uc001wvn.3 - 0 1501 c.1192C>T c.(1192-1194)Cct>Tct p.P398S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 398 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GCTGGTAAAGGCTGTACTTCA 0.507000 9 75 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86195042 86195042 + Missense_Mutation SNP T T C TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr6:86195042T>C uc003pko.4 + 3 1397 c.841T>C c.(841-843)Tat>Cat p.Y281H NT5E_uc010kbr.3_Missense_Mutation_p.Y281H NM_002526 NP_002517 P21589 5NTD_HUMAN Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA. 281 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) AGTCCAGGCCTATGCTTTTGG 0.453000 3 83 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113728878 113728878 + Splice_Site SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr13:113728878G>A uc001vsu.3 + 10 1287 c.1287_splice c.e10+1 p.G429_splice MCF2L_uc001vsq.3_Splice_Site_p.G429_splice|MCF2L_uc010tjr.2_Splice_Site_p.G372_splice|MCF2L_uc001vsr.3_Splice_Site_p.G376_splice|MCF2L_uc001vss.4_Splice_Site_p.G370_splice|MCF2L_uc010tjs.2_Splice_Site_p.G370_splice|MCF2L_uc001vst.1_Splice_Site_p.G334_splice NM_024979 NP_079255 O15068 MCF2L_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA. 402 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GAAATCAGGCGTAAGGCGGGG 0.642000 4 108 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976198 131976198 + Missense_Mutation SNP A A G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr2:131976198A>G uc002tsn.2 + 0 275 c.223A>G c.(223-225)Agt>Ggt p.S75G PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 75 ATP binding CTGCAGGGGGAGTGGCAAGAG 0.587000 4 223 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178553069 178553069 + Missense_Mutation SNP A A T TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr5:178553069A>T uc003mjw.3 - 17 2782 c.2680T>A c.(2680-2682)Ttc>Atc p.F894I NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 894 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GCGGCACAGAAGCCACGGTGT 0.652000 6 217 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8158830 8158830 + Missense_Mutation SNP C C A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr17:8158830C>A uc002gkr.3 + 4 536 c.395C>A c.(394-396)cCc>cAc p.P132H PFAS_uc010vuv.2_Intron NM_012393 NP_036525 O15067 PUR4_HUMAN Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA. 132 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTTGCCCACCCCCCGTCAGCT 0.567000 4 139 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254301 98254301 + Nonsense_Mutation SNP C C G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr7:98254301C>G uc003upl.2 + 2 888 c.711C>G c.(709-711)taC>taG p.Y237* NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 237 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ACTACCTATACGGCAAGATCA 0.587000 4 286 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160080795 160080795 + Missense_Mutation SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr2:160080795G>A uc002uag.3 + 22 4005 c.3731G>A c.(3730-3732)gGg>gAg p.G1244E TANC1_uc010zcm.2_Missense_Mutation_p.G1236E|TANC1_uc010fom.1_Missense_Mutation_p.G1050E|TANC1_uc010fon.3_Missense_Mutation_p.G88E NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA. 1244 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 GACCACAGCGGGATGCGGCCC 0.592000 3 101 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138656 126138656 + Silent SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr12:126138656G>A uc001uhe.1 + 8 2645 c.2637G>A c.(2635-2637)ccG>ccA p.P879P TMEM132B_uc001uhf.1_Silent_p.P391P NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 879 integral to membrane p.P879L(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGAAGTCACCGGACCCCAATA 0.517000 17 38 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173859 51173859 + Silent SNP A A G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr16:51173859A>G uc021tif.1 - 1 2305 c.1983T>C c.(1981-1983)gcT>gcC p.A661A SALL1_uc021tid.1_Silent_p.A661A|SALL1_uc021tie.1_Silent_p.A758A|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 758 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GCGGGGGCATAGCACGATGGA 0.552000 3 93 0 0 1 0 0