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 MIR508 0 broad.mit.edu 37 X 146318444 146318444 + RNA SNP G G A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chrX:146318444G>A ENST00000384857.1 - 0 101 NR_030235.1 CCAAATATGCGTTACGTGATG 0.507000 20 2 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62751626 62751626 + Missense_Mutation SNP G G A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr3:62751626G>A ENST00000383710.4 - 2 824 c.475C>T c.(475-477)Cgg>Tgg p.R159W CADPS_ENST00000357948.3_Missense_Mutation_p.R159W|CADPS_ENST00000283269.9_Missense_Mutation_p.R159W|CADPS_ENST00000490353.2_Missense_Mutation_p.R159W NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 159 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GCCTGAAACCGGTCCTTGACT 0.453000 36 70 0 0 1 0 0 KLHL23 151230 broad.mit.edu 37 2 170592131 170592131 + Missense_Mutation SNP C C A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr2:170592131C>A ENST00000392647.2 + 2 851 c.607C>A c.(607-609)Cca>Aca p.P203T KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.P203T NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 203 BACK. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 TATCATAGAGCCAGTTATTAA 0.353000 3 69 0.115264 0.115264 1 1 0 CIC 23152 broad.mit.edu 37 19 42791715 42791715 + Missense_Mutation SNP C C T TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr19:42791715C>T ENST00000572681.2 + 6 3396 c.3328C>T c.(3328-3330)Cgg>Tgg p.R1110W CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W Q96RK0 CIC_HUMAN capicua transcriptional repressor 201 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R201W(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGACCACATCCGGCGGCCCAT 0.622000 """Mis, F, S""" oligodendroglioma 32 5 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266182 1266182 + Missense_Mutation SNP C C T TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr11:1266182C>T ENST00000447027.1 + 31 8139 c.8081C>T c.(8080-8082)aCc>aTc p.T2694I MUC5B_ENST00000529681.1_Missense_Mutation_p.T2691I|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2691 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ccatcactgaccaccacggcc 0.622000 6 10 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 4 167 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65491077 65491077 + Missense_Mutation SNP C C T TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr15:65491077C>T ENST00000261883.4 - 9 1713 c.1547G>A c.(1546-1548)cGt>cAt p.R516H NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 516 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CATGCTTACACGGCTGTTCCC 0.582000 21 30 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440030 40440030 + Missense_Mutation SNP G G A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr4:40440030G>A ENST00000319592.4 - 4 1590 c.881C>T c.(880-882)gCc>gTc p.A294V RBM47_ENST00000295971.7_Missense_Mutation_p.A294V|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.A256V|RBM47_ENST00000381795.6_Missense_Mutation_p.A294V|RBM47_ENST00000381793.2_Missense_Mutation_p.A294V A0AV96 RBM47_HUMAN RNA binding motif protein 47 294 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GGCATGCACGGCATCCTCGCG 0.622000 3 50 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236706492 236706492 + Missense_Mutation SNP G G A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr2:236706492G>A ENST00000409538.1 + 7 2054 c.1558G>A c.(1558-1560)Gtc>Atc p.V520I AGAP1_ENST00000304032.7_Missense_Mutation_p.V255I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V255I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V255I|AGAP1_ENST00000428334.2_Missense_Mutation_p.V94I Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 255 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CCATTCCTCCGTCTGTTCCGC 0.512000 14 191 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120302572 120302572 + Nonsense_Mutation SNP A A T TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr1:120302572A>T ENST00000369406.3 - 3 649 c.600T>A c.(598-600)taT>taA p.Y200* HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 200 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TACCACTGGGATAGACGGCAA 0.517000 3 23 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 96 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48380873 48380873 + Silent SNP C C T TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr12:48380873C>T ENST00000380518.3 - 21 1517 c.1353G>A c.(1351-1353)ccG>ccA p.P451P COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P382P NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 451 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TCTGACCTTTCGGGCCCAGAG 0.622000 43 46 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12296198 12296198 + Silent SNP G G A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr6:12296198G>A ENST00000379375.5 + 5 804 c.537G>A c.(535-537)tcG>tcA p.S179S NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 179 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity p.S179S(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) TTATTAGGTCGGAGACCATGA 0.393000 11 146 0 0 1 0 0 ANO6 196527 broad.mit.edu 37 12 45741926 45741926 + Missense_Mutation SNP G G A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr12:45741926G>A ENST00000320560.8 + 5 663 c.461G>A c.(460-462)cGg>cAg p.R154Q ANO6_ENST00000441606.2_Missense_Mutation_p.R136Q|ANO6_ENST00000435642.1_Missense_Mutation_p.R154Q|ANO6_ENST00000425752.2_Missense_Mutation_p.R154Q|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.R175Q NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 154 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CTGAAAAACCGGTCCTCAGCC 0.438000 41 47 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117153161 117153161 + Missense_Mutation SNP G G A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr11:117153161G>A ENST00000530849.1 + 11 1299 c.1289G>A c.(1288-1290)cGt>cAt p.R430H RNF214_ENST00000300650.4_Missense_Mutation_p.R585H|RNF214_ENST00000531452.1_Missense_Mutation_p.R585H|RNF214_ENST00000531287.1_Missense_Mutation_p.R430H|RNF214_ENST00000524917.1_3'UTR Q8ND24 RN214_HUMAN ring finger protein 214 585 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) AAGACAGCACGTACCACCATG 0.517000 28 26 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 23848694 23848694 + Splice_Site SNP A A G TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr16:23848694A>G ENST00000303531.7 + 2 325 c.e2-1 PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Splice_Site NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTGCTTTTGCAGGGGCTTCGG 0.567000 4 169 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167796320 167796320 + Silent SNP G G A TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr6:167796320G>A ENST00000366827.2 - 2 253 c.42C>T c.(40-42)gaC>gaT p.D14D TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D Q12799 TCP10_HUMAN t-complex 10 41 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGGCATTGCTGTCCTCCCTGG 0.652000 3 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 47 55 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 39 0 0 1 0 0 AC007383.4 0 broad.mit.edu 37 2 206981155 206981155 + RNA DEL C C - rs71410864 TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr2:206981155delC ENST00000453039.1 + 0 885 NR_033248.1 AGGCAGGGCGCGGCAGGTGCC 0.627 5 9 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 3 4 --- --- --- --- LMOD2 442721 broad.mit.edu 37 7 123301995 123301997 + In_Frame_Del DEL GAG GAG - TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr7:123301995_123301997delGAG ENST00000458573.2 + 2 512_514 c.355_357delGAG c.(355-357)del p.E124del LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 124 Glu-rich. cytoskeleton actin binding|tropomyosin binding AGTGTATACAgaggaggaggagg 0.409 2 4 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 7 160 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129155055 129155055 + Frame_Shift_Del DEL G G - TCGA-S9-A7J2-01A-11D-A34A-08 TCGA-S9-A7J2-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ec5804-ccd5-4a03-b250-4936b783ad4a 9807aded-c9bc-4500-b7ba-32967f7019df g.chrX:129155055delG ENST00000540052.1 + 4 3581 c.3537delG c.(3535-3537)aafs p.K1179fs BCORL1_ENST00000218147.7_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K1179fs NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1179 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TCAGGGGAAAGCACAAGCACC 0.622 15 3 --- --- --- ---