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 TPM4 7171 broad.mit.edu 37 19 16199868 16199868 + Silent SNP C C T TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr19:16199868C>T uc002ndi.2 + 5 695 c.577C>T c.(577-579)Ctg>Ttg p.L193L TPM4_uc002ndj.2_Silent_p.L157L|TPM4_uc002ndk.1_Silent_p.L67L NM_001145160 NP_001138632 P67936 TPM4_HUMAN Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA. 157 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 ATGTGGTGACCTGGAAGAAGA 0.438000 T ALK ALCL OREG0025329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 36 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb 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 41 39 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38287336 38287336 + Silent SNP C C T TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr8:38287336C>T uc011lbu.2 - 3 644 c.321G>A c.(319-321)gcG>gcA p.A107A FGFR1_uc011lbv.2_Silent_p.A74A|FGFR1_uc011lbw.2_Intron|FGFR1_uc003xlp.3_Silent_p.A74A|FGFR1_uc022aub.1_Silent_p.A74A|FGFR1_uc022auc.1_Intron|FGFR1_uc022aud.1_Intron|FGFR1_uc010lwk.3_Silent_p.A66A|FGFR1_uc022aua.1_Silent_p.A74A|FGFR1_uc011lbr.2_5'Flank|FGFR1_uc011lbs.2_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.3_Intron|FGFR1_uc003xlu.3_Intron|FGFR1_uc003xlw.1_Non-coding_Transcript NM_001174067 NP_056934 P11362 FGFR1_HUMAN Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 14, mRNA. 74 Ig-like C2-type 1. MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGTTGCTTTCCGCCAGCTGCA 0.667000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 5 14 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153745028 153745028 + Missense_Mutation SNP G G A TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr1:153745028G>A uc010peb.2 + 20 2590 c.2315G>A c.(2314-2316)cGg>cAg p.R772Q INTS3_uc009wom.3_Intron|INTS3_uc001fct.3_Intron|INTS3_uc001fcu.3_Intron|INTS3_uc001fcv.3_Intron|INTS3_uc001fcw.3_Intron|INTS3_uc010pec.2_Intron|INTS3_uc001fcx.3_Intron|INTS3_uc001fcy.3_Missense_Mutation_p.R275Q NM_023015 NP_075391 Q68E01 INT3_HUMAN Homo sapiens integrator complex subunit 3 (INTS3), mRNA. 0 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing SOSS complex|integrator complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACCCACACTCGGGATAAAACA 0.572000 9 12 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 127999360 127999360 + Silent SNP A A C TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr9:127999360A>C uc004bpn.3 - 7 1737 c.1476T>G c.(1474-1476)cgT>cgG p.R492R NM_005347 NP_005338 P11021 GRP78_HUMAN Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA. 492 ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) GTGGGACCCCACGAGGAGCAG 0.423000 Prostate(1;0.17) 15 96 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179610555 179610555 + Silent SNP A A G TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr2:179610555A>G uc002unb.2 - 45 16797 c.16572T>C c.(16570-16572)taT>taC p.Y5524Y TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant novex-3, mRNA. 8994 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTATTGGTGCATAACAGTCAG 0.418000 46 76 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58734159 58734159 + Frame_Shift_Del DEL C C - TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr17:58734159delC uc002iyt.2 + 4 1449 c.1217delC c.(1216-1218)accfs p.T406fs PPM1D_uc010ddm.2_Non-coding_Transcript NM_003620 NP_003611 O15297 PPM1D_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA. 406 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AGTCAAGAAACCTGTGTGATG 0.398 34 56 --- --- --- ---