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 FIGF 2277 broad.mit.edu 37 X 15365368 15365368 + Missense_Mutation SNP T T G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chrX:15365368T>G uc004cwt.2 - 5 1323 c.856A>C c.(856-858)Aaa>Caa p.K286Q FIGF_uc022bth.1_Non-coding_Transcript NM_004469 NP_004460 O43915 VEGFD_HUMAN Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA. 286 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) CTGCAGTTTTTGGGGTGCTGG 0.488000 3 82 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233348844 233348844 + Missense_Mutation SNP G G A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr2:233348844G>A uc002vsv.2 - 6 1479 c.1274C>T c.(1273-1275)gCa>gTa p.A425V ECEL1_uc010fya.1_Missense_Mutation_p.A425V|ECEL1_uc010fyb.1_Missense_Mutation_p.A132V NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 425 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CATCTCCTGTGCCAGCTCGTG 0.647000 42 67 0 0 1 0 0 TAPBP 6892 broad.mit.edu 37 6 33272093 33272093 + Silent SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr6:33272093C>T uc003odz.3 - 4 1537 c.1191G>A c.(1189-1191)gaG>gaA p.E397E TAPBP_uc003odx.2_Silent_p.E397E|TAPBP_uc010jut.2_Silent_p.E310E|TAPBP_uc003ody.3_3'UTR|TAPBP_uc011drc.2_Silent_p.E397E NM_172208 NP_757345 O15533 TPSN_HUMAN Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 2, mRNA. 397 Ig-like C1-type. antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 CCAGGGTGACCTCAGCGCTGC 0.642000 52 88 0 0 1 0 0 ALOX12 239 broad.mit.edu 37 17 6908626 6908626 + Silent SNP G G T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:6908626G>T uc002gdx.4 + 8 1265 c.1212G>T c.(1210-1212)cgG>cgT p.R404R LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron NM_000697 NP_000688 P18054 LOX12_HUMAN Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA. 404 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CCCGGGCCCGGACCCAACTCA 0.552000 OREG0024126 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 534 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185012454 185012454 + Missense_Mutation SNP G G A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr4:185012454G>A uc003iwc.3 - 7 1341 c.1199C>T c.(1198-1200)cCg>cTg p.P400L NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA. 400 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GTTGGGCAGCGGGGTGATGCC 0.587000 61 130 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219503377 219503377 + Missense_Mutation SNP G G C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr2:219503377G>C uc002vin.3 - 9 5185 c.4749C>G c.(4747-4749)caC>caG p.H1583Q ZNF142_uc002vil.3_Missense_Mutation_p.H1544Q|ZNF142_uc010fvt.3_Missense_Mutation_p.H1420Q|ZNF142_uc002vim.3_Missense_Mutation_p.H1420Q NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 1583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCTTGCGAAGGTGGGTGCGCA 0.622000 28 61 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324444 3324444 + Missense_Mutation SNP C C A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:3324444C>A uc010vrd.2 + 0 583 c.583C>A c.(583-585)Cag>Aag p.Q195K NM_012373 NP_036505 P47888 OR3A3_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 ACAGCTCTTCCAGCTCTCCTG 0.552000 56 90 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78073390 78073390 + Missense_Mutation SNP G G A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:78073390G>A uc010dht.3 + 19 3276 c.3245G>A c.(3244-3246)cGc>cAc p.R1082H CCDC40_uc002jxm.4_Missense_Mutation_p.R865H|CCDC40_uc002jxn.4_Missense_Mutation_p.R478H|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA. 1082 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AAGGAGGGGCGCTACGTGTTC 0.602000 3 67 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 169995788 169995788 + Missense_Mutation SNP A A G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr2:169995788A>G uc002ues.3 - 73 13574 c.13361T>C c.(13360-13362)cTt>cCt p.L4454P NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4454 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGCAGGCAAAAGGGAGCCGGT 0.468000 4 90 0 0 1 0 0 KRBA2 124751 broad.mit.edu 37 17 8273458 8273458 + Missense_Mutation SNP C C A rs139656920 byFrequency TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:8273458C>A uc002glf.1 - 1 479 c.473G>T c.(472-474)cGt>cTt p.R158L KRBA2_uc002glg.1_Missense_Mutation_p.R75L NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA. 158 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 TTTTGCTGCACGGCGATAATC 0.378000 35 204 0 0 1 0 0 ZNF263 10127 broad.mit.edu 37 16 3339612 3339612 + Missense_Mutation SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr16:3339612C>T uc002cuq.3 + 5 1438 c.1106C>T c.(1105-1107)cCg>cTg p.P369L ZNF263_uc010uww.2_Missense_Mutation_p.P17L|ZNF263_uc002cur.2_Missense_Mutation_p.P17L NM_005741 NP_005732 O14978 ZN263_HUMAN Homo sapiens zinc finger protein 263 (ZNF263), mRNA. 369 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 CTGGGGCGACCGAAGGAACTG 0.532000 33 37 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40024146 40024146 + Missense_Mutation SNP C C A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:40024146C>A uc002hyi.3 - 28 3390 c.3385G>T c.(3385-3387)Gat>Tat p.D1129Y KLHL11_uc002hyf.1_5'Flank|ACLY_uc002hyg.3_Missense_Mutation_p.D1075Y|ACLY_uc002hyh.3_Missense_Mutation_p.D1065Y|ACLY_uc010wfx.2_Missense_Mutation_p.D1119Y|ACLY_uc010wfy.2_Missense_Mutation_p.D804Y NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 1075 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTCTTCTGATCAAGATAGTGT 0.433000 3 89 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154100 5154100 + Missense_Mutation SNP T T G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr12:5154100T>G uc001qni.3 + 0 1016 c.787T>G c.(787-789)Tcc>Gcc p.S263A NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 263 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TATCCTCATCTCCATCATCAC 0.642000 35 258 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42941058 42941058 + Missense_Mutation SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:42941058C>T uc002ihn.2 - 14 1639 c.1378G>A c.(1378-1380)Gac>Aac p.D460N EFTUD2_uc010wje.1_Missense_Mutation_p.D425N|EFTUD2_uc010wjf.1_Missense_Mutation_p.D450N NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 460 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TCGCCGAGGTCGGAGTCCACA 0.552000 4 141 0 0 1 0 0 FAM55B 120406 broad.mit.edu 37 11 114569205 114569205 + Missense_Mutation SNP C C G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr11:114569205C>G uc009yyy.2 + 2 669 c.571C>G c.(571-573)Ctg>Gtg p.L191V NM_182495 NP_872301 Q96DL1 FA55B_HUMAN Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA. 191 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1) 14 TTCCCTGTCTCTGCTGCTCAT 0.537000 3 47 0 0 1 0 0 ETNK2 55224 broad.mit.edu 37 1 204115853 204115853 + Silent SNP G G A rs139650333 TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr1:204115853G>A uc001han.4 - 2 885 c.558C>T c.(556-558)caC>caT p.H186H ETNK2_uc010pqr.2_Silent_p.H8H|ETNK2_uc001hao.4_Silent_p.H186H|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Silent_p.H8H Q9NVF9 EKI2_HUMAN Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA. 186 ATP binding|choline kinase activity|ethanolamine kinase activity p.H186H(2) breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1) 7 all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) TGCCGTTGGCGTGGATAGTAT 0.498000 4 114 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 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 27 43 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10789305 10789305 + Silent SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr19:10789305C>T uc002mpo.3 + 5 893 c.576C>T c.(574-576)aaC>aaT p.N192N ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpn.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N NM_017620 NP_060090 Q12906 ILF3_HUMAN Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 4, mRNA. 192 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TATCAGTCAACGACCCCCCGG 0.502000 4 154 0 0 1 0 0 SAMD5 389432 broad.mit.edu 37 6 147830172 147830172 + Silent SNP C C A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr6:147830172C>A uc003qmc.2 + 0 345 c.108C>A c.(106-108)atC>atA p.I36I NM_001030060 NP_001025231 Q5TGI4 SAMD5_HUMAN Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA. 36 SAM. Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112) GCAAGCAGATCGGGGACCCGG 0.667000 11 70 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110746110 110746110 + Missense_Mutation SNP G G C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr6:110746110G>C uc003puf.3 - 7 1767 c.1700C>G c.(1699-1701)gCg>gGg p.A567G SLC22A16_uc003pue.3_Missense_Mutation_p.A548G NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 567 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity p.A567A(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GGGGGTAATCGCTTCCGTTTT 0.423000 78 113 0 0 1 0 0