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 WNT3A 89780 broad.mit.edu 37 1 228210473 228210473 + Silent SNP C C T TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr1:228210473C>T uc001hrp.2 + 1 284 c.177C>T c.(175-177)taC>taT p.Y59Y WNT3A_uc001hrq.2_Silent_p.Y59Y NM_033131 NP_149122 P56704 WNT3A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA. 59 Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity p.Y59Y(2) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GCAGGAACTACGTGGAGATCA 0.652000 14 28 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56906569 56906569 + Splice_Site SNP G G A rs149172580 byFrequency TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr16:56906569G>A uc002ekd.4 + 8 994 c.965_splice c.e8-1 p.A322_splice SLC12A3_uc010ccm.3_Splice_Site_p.A322_splice|SLC12A3_uc010ccn.3_Splice_Site_p.A321_splice NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 322 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CTTTTCCAGCGGACATTTTTG 0.592000 18 35 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48896807 48896807 + Missense_Mutation SNP A A C TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chrX:48896807A>C uc004dmb.3 - 2 597 c.359T>G c.(358-360)cTa>cGa p.L120R TFE3_uc004dmc.3_Missense_Mutation_p.L15R|TFE3_uc004dme.1_Non-coding_Transcript NM_006521 NP_006512 P19532 TFE3_HUMAN Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA. 120 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GGCCCGCATTAGCTGCTGCCG 0.657000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 8 3 0 0 1 0 0 SOLH 6650 broad.mit.edu 37 16 601310 601310 + Missense_Mutation SNP T T C TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr16:601310T>C uc002chi.3 + 7 2438 c.2075T>C c.(2074-2076)aTg>aCg p.M692T SOLH_uc002chj.3_5'Flank NM_005632 NP_005623 O75808 CAN15_HUMAN Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA. 692 Calpain catalytic. proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Hepatocellular(780;0.00335) AGGTTCCTCATGGGTGCCTCC 0.682000 14 24 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120677714 120677715 + Missense_Mutation DNP GC GC CA TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr2:120677714_120677715GC>CA uc002tmf.1 + 11 1669_1670 c.898_899GC>CA c.(898-900)gca>CAa p.A300Q PTPN4_uc010flj.1_Missense_Mutation_p.A13Q NM_002830 NP_002821 P29074 PTN4_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA. 300 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TTTGTGGAAAGCATGTGTAGAA 0.337000 64 77 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 49 76 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14492733 14492733 + Missense_Mutation SNP G G A TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr5:14492733G>A uc003jff.3 + 48 7696 c.7690G>A c.(7690-7692)Gca>Aca p.A2564T TRIO_uc003jfg.3_Non-coding_Transcript NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 2564 SH3 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CGATTACACGGCAGTGAAGGA 0.517000 13 31 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116413488 116413488 + Missense_Mutation SNP T T C TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr12:116413488T>C uc001tvw.3 - 23 5475 c.5420A>G c.(5419-5421)gAc>gGc p.D1807G NM_015335 NP_056150 Q71F56 MD13L_HUMAN Homo sapiens mediator complex subunit 13-like (MED13L), mRNA. 1807 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TGTCTGCTTGTCTTTGATTGG 0.488000 6 61 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101777048 101777048 + Missense_Mutation SNP T T G TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr12:101777048T>G uc001tia.1 + 58 8042 c.7886T>G c.(7885-7887)aTt>aGt p.I2629S NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 2629 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding p.R2628W(1) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CTGTCCCGGATTGCAAAACTG 0.493000 5 63 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47572495 47572495 + Missense_Mutation SNP C C A TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr19:47572495C>A uc002pga.4 - 13 2290 c.2252G>T c.(2251-2253)cGg>cTg p.R751L ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 751 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TGGCTTCGGCCGGCCTGGGGG 0.677000 11 17 0 0 1 0 0