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 TNKS1BP1 85456 broad.mit.edu 37 11 57075943 57075943 + Silent SNP G G A TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr11:57075943G>A uc001njr.3 - 4 4554 c.4242C>T c.(4240-4242)taC>taT p.Y1414Y TNKS1BP1_uc001njs.3_Silent_p.Y1414Y|TNKS1BP1_uc009ymd.1_Silent_p.Y865Y NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 1414 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AAGACGAGGAGTAATCTTCAC 0.602000 130 287 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77659600 77659600 + Silent SNP G G A TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr18:77659600G>A uc010xfl.2 + 1 1185 c.1185G>A c.(1183-1185)ctG>ctA p.L395L NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA. 395 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GCGGCATCCTGCTCATGGCCT 0.692000 7 73 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23866411 23866411 + Missense_Mutation SNP C C T TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr14:23866411C>T uc001wjv.3 - 16 2089 c.2018G>A c.(2017-2019)cGt>cAt p.R673H NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 673 Actin-binding.|Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R673H(2) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GATGATGCAACGCACAAAGTG 0.542000 64 138 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497638 1497638 + Missense_Mutation SNP T T C TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr8:1497638T>C uc003wpl.3 + 1 876 c.779T>C c.(778-780)cTc>cCc p.L260P DLGAP2_uc003wpm.3_Missense_Mutation_p.L260P NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 339 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GACCTGTCCCTCAAGACCTCC 0.667000 3 127 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120463753 120463753 + Missense_Mutation SNP G G C TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr4:120463753G>C uc003idh.3 - 9 1588 c.1433C>G c.(1432-1434)aCt>aGt p.T478S PDE5A_uc003idf.3_Missense_Mutation_p.T436S|PDE5A_uc003idg.3_Missense_Mutation_p.T426S|AF085995_uc003idi.4_Intron NM_001083 NP_246273 O76074 PDE5A_HUMAN Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA. 478 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AACCTTGCCAGTATTCTCCTC 0.388000 33 56 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6022440 6022440 + Missense_Mutation SNP C C T TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr20:6022440C>T uc002wmo.2 - 4 1675 c.1451G>A c.(1450-1452)gGc>gAc p.G484D NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA. 484 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 AGGGAAGGGGCCCAGGAGCTT 0.657000 45 115 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27068491 27068491 + Missense_Mutation SNP A A G TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr17:27068491A>G uc002hcp.3 + 13 1952 c.1952A>G c.(1951-1953)gAt>gGt p.D651G TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank NM_178170 NP_835464 Q86SG6 NEK8_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA. 651 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) AGGGATGAGGATGCCGGACTC 0.592000 26 52 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103988620 103988620 + Nonsense_Mutation SNP G G A TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr4:103988620G>A uc003hwx.4 - 1 960 c.88C>T c.(88-90)Cag>Tag p.Q30* SLC9B2_uc003hwy.3_Nonsense_Mutation_p.Q30*|SLC9B2_uc011cew.2_Nonsense_Mutation_p.Q30*|SLC9B2_uc011cex.1_Nonsense_Mutation_p.Q30*|SLC9B2_uc011cey.2_Nonsense_Mutation_p.Q30* NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA. 30 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity AGATTTACCTGTGCTTCTTGA 0.368000 5 85 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59024649 59024649 + Missense_Mutation SNP G G C TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr17:59024649G>C uc002iyv.4 + 13 1266 c.1157G>C c.(1156-1158)tGg>tCg p.W386S BCAS3_uc010wow.1_Missense_Mutation_p.W173S|BCAS3_uc002iyu.4_Missense_Mutation_p.W386S|BCAS3_uc002iyw.4_Missense_Mutation_p.W382S|BCAS3_uc002iyx.1_Missense_Mutation_p.W201S|BCAS3_uc002iyy.4_Missense_Mutation_p.W157S NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 386 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) ACTCATCCTTGGTCCTCATCA 0.413000 7 209 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133883736 133883736 + Missense_Mutation SNP T T G TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr8:133883736T>G uc003ytw.3 + 3 459 c.418T>G c.(418-420)Tgt>Ggt p.C140G NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 140 Thyroglobulin type-1 2. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCAGTGCTGGTGTGTGGACGC 0.597000 27 50 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30495432 30495432 + Splice_Site DEL A A - TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr16:30495432delA uc002dyi.4 + 9 1032 c.856_splice c.e9-2 p.I286_splice ITGAL_uc010veu.1_Splice_Site|ITGAL_uc002dyj.4_Splice_Site_p.I203_splice|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 286 VWFA. T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) ACTCCCTCACAGATTGGAAAG 0.488 82 147 --- --- --- ---