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 uc001hyd.2 - 38 5784 c.5632C>T c.(5632-5634)Cga>Tga p.R1878* HEATR1_uc009xgh.2_Nonsense_Mutation_p.R1040* NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 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 1 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 uc001qsz.3 - 7 1956 c.1828T>C c.(1828-1830)Tct>Cct p.S610P CD163_uc001qta.3_Missense_Mutation_p.S610P|CD163_uc009zfw.2_Missense_Mutation_p.S643P NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 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 1 0 0 AKT2 208 broad.mit.edu 37 19 40745948 40745948 + Missense_Mutation SNP T T 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.chr19:40745948T>C uc010xvk.1 - 6 951 c.643A>G c.(643-645)Agt>Ggt p.S215G AKT2_uc010egs.3_Intron|AKT2_uc002onf.3_Intron|AKT2_uc010xvj.2_Intron|AKT2_uc010egt.3_Intron|AKT2_uc010egu.2_Intron|AKT2_uc002one.3_Intron NM_001626 NP_001617 P31751 AKT2_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA. 0 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GGAGGGCAACTCACAGTGAGG 0.597000 A """ovarian, pancreatic """ 40 87 0 0 1 0 0 GATC 283459 broad.mit.edu 37 12 120897756 120897756 + 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.chr12:120897756C>T uc010szi.2 + 3 448 c.405C>T c.(403-405)caC>caT p.H135H GATC_uc021rev.1_Non-coding_Transcript NM_176818 NP_789788 O43716 GATCL_HUMAN Homo sapiens glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) (GATC), transcript variant 1, mRNA. 135 regulation of translational fidelity p.H135Q(2) breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CATTCCCACACAGCTGAGTAG 0.353000 9 33 0 0 1 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 uc002red.3 - 24 4211 c.4083T>A c.(4081-4083)aaT>aaA p.N1361K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 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(2) 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 1 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 uc002wrz.3 - 15 2243 c.2100G>A c.(2098-2100)cgG>cgA p.R700R RALGAPA2_uc002wry.3_Silent_p.R315R|RALGAPA2_uc010zsg.2_Silent_p.R101R NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 700 activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity p.R700R(1) 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 1 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 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 22 47 0 0 1 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 uc003mxn.3 + 9 1051 c.877G>A c.(877-879)Gtc>Atc p.V293I RIOK1_uc003mxo.3_Missense_Mutation_p.V52I NM_031480 NP_694550 Q9BRS2 RIOK1_HUMAN Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA. 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 1 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 uc002arl.3 - 5 844 c.673G>A c.(673-675)Gaa>Aaa p.E225K NM_006305 NP_006296 P39687 AN32A_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A (ANP32A), mRNA. 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 1 0 0 abParts 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 uc021ser.1 - 488 c.14496T>G Parts of antibodies, mostly variable regions. TCGGCCCTTCACAGAGTCTGC 0.527000 40 117 0 0 1 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 uc003jon.4 + 12 1547 c.1365C>G c.(1363-1365)ctC>ctG p.L455L PARP8_uc011cpz.2_Silent_p.L347L|PARP8_uc003joo.3_Silent_p.L455L|PARP8_uc003jop.3_Silent_p.L455L NM_001178055 NP_078891 Q8N3A8 PARP8_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA. 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 1 0 0