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 HEATR1 55127 broad.mit.edu 37 1 236719122 236719122 + Nonsense_Mutation SNP G G A TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr1:236719122G>A ENST00000366582.3 - 39 5746 c.5632C>T c.(5632-5634)Cga>Tga p.R1878* HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R1797* NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1878 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGCTGGGCTCGGAAGTCCAGG 0.493000 40 86 0 0 0.098360 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 22 47 0 0 0.055883 0 0 APOB 338 broad.mit.edu 37 2 21236165 21236165 + Missense_Mutation SNP A A T TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr2:21236165A>T ENST00000233242.1 - 25 4210 c.4083T>A c.(4081-4083)aaT>aaA p.N1361K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1361 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.N1361N(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGCTGTAGACATTCGTGGAGA 0.512000 46 102 0 0 0.048971 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 6 47 0 0 0.021553 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 8 32 0 0 0.105934 0 0 AL021546.6 0 broad.mit.edu 37 12 120897756 120897756 + Nonsense_Mutation SNP C C T TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr12:120897756C>T ENST00000551806.1 + 5 499 c.499C>T c.(499-501)Cag>Tag p.Q167* GATC_ENST00000551765.1_Silent_p.H135H p.H135Q(1) CATTCCCACACAGCTGAGTAG 0.353000 9 33 0 0 0.058154 0 0 RIOK1 83732 broad.mit.edu 37 6 7404673 7404673 + Missense_Mutation SNP G G A TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr6:7404673G>A ENST00000379834.2 + 10 1384 c.877G>A c.(877-879)Gtc>Atc p.V293I NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 293 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) CTTGAAAAATGTCCAGTTATC 0.418000 11 104 0 0 0.069234 0 0 IGHV3-35 0 broad.mit.edu 37 14 106845426 106845426 + RNA SNP A A C TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr14:106845426A>C ENST00000390617.2 - 0 262 TCGGCCCTTCACAGAGTCTGC 0.527000 40 117 0 0 0.098360 0 0 CD163 9332 broad.mit.edu 37 12 7640177 7640177 + Missense_Mutation SNP A A G TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr12:7640177A>G ENST00000359156.4 - 8 2030 c.1828T>C c.(1828-1830)Tct>Cct p.S610P CD163_ENST00000396620.3_Missense_Mutation_p.S643P|CD163_ENST00000541972.1_Missense_Mutation_p.S598P|CD163_ENST00000432237.2_Missense_Mutation_p.S610P NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 610 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TCCCAGTGAGAGTTACAGAGG 0.517000 9 91 0 0 0.047766 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20582429 20582429 + Silent SNP C C T TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr20:20582429C>T ENST00000202677.6 - 16 2242 c.2100G>A c.(2098-2100)cgG>cgA p.R700R RALGAPA2_ENST00000495793.1_5'UTR NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 700 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CTGGGTGGCTCCGCCAGCTGA 0.488000 4 26 0 0 0.014758 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 5 102 0 0 0.014758 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 41 0 0 0.004672 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395831 47395831 + Missense_Mutation SNP G G A rs58897090 TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr1:47395831G>A ENST00000310638.4 - 12 1547 c.1516C>T c.(1516-1518)Ctc>Ttc p.L506F CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 506 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGCCTCCTGAGACGCAGGTGG 0.577000 3 39 0 0 0.004672 0 0 ANP32A 8125 broad.mit.edu 37 15 69072764 69072764 + Missense_Mutation SNP C C T TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr15:69072764C>T ENST00000465139.2 - 6 816 c.673G>A c.(673-675)Gaa>Aaa p.E225K ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_3'UTR NM_006305.3 NP_006296.1 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 225 Asp/Glu-rich (highly acidic).|Interaction with E4F1 (By similarity). intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding endometrium(1)|large_intestine(1)|lung(2) 4 AGCTCTTCTTCATCTTCCTCG 0.498000 6 41 0 0 0.029380 0 0 PARP8 79668 broad.mit.edu 37 5 50091188 50091188 + Silent SNP C C G TCGA-DJ-A2PV-01A-11D-A19J-08 TCGA-DJ-A2PV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47e34bfc-1871-4943-833f-60894efc3112 40a0e16b-e1e8-4ccc-b56f-73603a392548 g.chr5:50091188C>G ENST00000281631.5 + 12 1523 c.1365C>G c.(1363-1365)ctC>ctG p.L455L PARP8_ENST00000514342.2_Silent_p.L208L|PARP8_ENST00000503750.2_Silent_p.L455L|PARP8_ENST00000514067.2_Silent_p.L455L|PARP8_ENST00000505554.1_Silent_p.L434L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.L455L NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 455 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GCAGGAGGCTCTCTCTTACCT 0.433000 4 60 0 0 0.009096 0 0