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 SLC6A3 6531 broad.mit.edu 37 5 1409836 1409836 + Splice_Site SNP G G A rs2270912 byFrequency TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr5:1409836G>A ENST00000270349.9 - 10 1525 c.1398_splice c.e10+1 p.N466_splice SLC6A3_ENST00000453492.2_Splice_Site_p.N466_splice NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 466 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGGTACGTACGTTGGTGACGC 0.617000 34 44 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76130033 76130033 + Silent SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr17:76130033G>A ENST00000318430.5 + 7 1142 c.768G>A c.(766-768)gtG>gtA p.V256V TMC8_ENST00000589691.1_Silent_p.V33V NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 256 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) GCATCCGGGTGCAGGAAGCAG 0.577000 31 35 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19751533 19751533 + Missense_Mutation SNP A A G TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr18:19751533A>G ENST00000269216.3 + 2 705 c.428A>G c.(427-429)cAg>cGg p.Q143R GATA6_ENST00000581694.1_Missense_Mutation_p.Q143R NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 143 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GCACCCGAGCAGCCGGAGGAG 0.716000 6 33 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26500833 26500833 + Missense_Mutation SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr10:26500833G>A ENST00000265944.5 + 35 4958 c.4792G>A c.(4792-4794)Gac>Aac p.D1598N MYO3A_ENST00000543632.1_Missense_Mutation_p.R613Q NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1598 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAACCCCTACGACTTCAGGAG 0.652000 5 11 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238337 3238337 + Missense_Mutation SNP C C T TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chrX:3238337C>T ENST00000217939.6 - 5 5543 c.5389G>A c.(5389-5391)Gga>Aga p.G1797R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1797 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAGGGTGATCCCGTGGTCTGC 0.493000 20 23 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66416082 66416082 + Missense_Mutation SNP A A G TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr7:66416082A>G ENST00000341567.4 + 5 995 c.740A>G c.(739-741)tAt>tGt p.Y247C NM_017994.4 NP_060464.1 transmembrane protein 248 GGAAAAGTCTATCATGCTTTA 0.428000 34 56 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19758334 19758334 + Missense_Mutation SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr19:19758334G>A ENST00000357324.6 - 21 2823 c.2797C>T c.(2797-2799)Cgc>Tgc p.R933C ATP13A1_ENST00000291503.5_Missense_Mutation_p.R815C NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 933 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TGGCTCAGGCGGTCCTGCAGG 0.637000 3 22 0 0 1 0 0 MET 0 broad.mit.edu 37 7 116436092 116436092 + Missense_Mutation SNP G G A rs45578433 by1000genomes TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr7:116436092G>A ENST00000397752.3 + 21 4287 c.4087G>A c.(4087-4089)Gct>Act p.A1363T MET_ENST00000539704.1_Missense_Mutation_p.A233T|MET_ENST00000318493.6_Missense_Mutation_p.A1381T NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1363 Interaction with RANBP9. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AAAATGTGTCGCTCCGTATCC 0.463000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 4 183 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34924118 34924118 + Missense_Mutation SNP A A G rs142324795 TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr21:34924118A>G ENST00000356577.4 + 3 3056 c.2581A>G c.(2581-2583)Atg>Gtg p.M861V SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.M861V NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 861 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 AACTAGCTCAATGGATTCCCA 0.493000 81 112 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 3 89 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 4 76 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62598777 62598777 + Missense_Mutation SNP T T C TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr20:62598777T>C ENST00000450537.1 - 3 281 c.221A>G c.(220-222)aAg>aGg p.K74R ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R Q96KM6 Z512B_HUMAN zinc finger protein 512B 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGGCCGCCCCTTTTTCTTCCC 0.632000 3 125 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9309931 9309931 + Silent SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr12:9309931G>A ENST00000261336.2 - 28 3418 c.3390C>T c.(3388-3390)gcC>gcT p.A1130A PZP_ENST00000381997.2_Silent_p.A916A NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GGCAGAACAGGGCATTGCGAA 0.507000 4 122 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181765891 181765891 + Missense_Mutation SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr1:181765891G>A ENST00000526775.1 + 45 6275 c.6110G>A c.(6109-6111)cGc>cAc p.R2037H CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1663H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1988H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2050H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2056H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2099H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2080H NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2099 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GATGTCTCCCGCTGCAATTCA 0.602000 3 15 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52552602 52552602 + Silent SNP C C T TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr3:52552602C>T ENST00000321725.6 + 47 4936 c.4860C>T c.(4858-4860)caC>caT p.H1620H NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1620 FAS1 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCGTGCCGCACGCAGATCTAA 0.627000 4 7 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca 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 42 54 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10355562 10355562 + Missense_Mutation SNP C C T TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr17:10355562C>T ENST00000255381.2 - 27 3544 c.3434G>A c.(3433-3435)cGg>cAg p.R1145Q CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1145 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1145L(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTCCAGCTCCCGGGAGAGGTC 0.592000 6 155 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53959188 53959188 + RNA SNP G G A rs144532705 TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr19:53959188G>A ENST00000454407.1 + 0 1880 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AAAGCTTTCCGTTTCAAATCA 0.423000 36 2 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 3 142 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 96 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125780796 125780796 + Missense_Mutation SNP G G C TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr10:125780796G>C ENST00000346248.5 - 6 1965 c.1323C>G c.(1321-1323)aaC>aaG p.N441K CHST15_ENST00000435907.1_Missense_Mutation_p.N441K|CHST15_ENST00000421115.1_Missense_Mutation_p.N441K NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 441 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TGAGGGTGTTGTTGTAGACGC 0.542000 10 10 0 0 1 0 0 TTYH3 80727 broad.mit.edu 37 7 2698612 2698612 + Missense_Mutation SNP A A G TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr7:2698612A>G ENST00000258796.7 + 13 1668 c.1463A>G c.(1462-1464)aAc>aGc p.N488S TTYH3_ENST00000407643.1_Missense_Mutation_p.N456S|TTYH3_ENST00000403167.1_Missense_Mutation_p.N317S NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 488 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CGCTGTGAGAACACCCCACTC 0.642000 95 131 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128426243 128426243 + Missense_Mutation SNP A A G TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr11:128426243A>G ENST00000392668.3 - 3 225 c.157T>C c.(157-159)Ttt>Ctt p.F53L ETS1_ENST00000525404.1_5'UTR NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 151 PNT. cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TCATCCCAAAAGGGGTAGCAA 0.448000 3 82 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109707134 109707134 + Silent SNP C C T rs144842352 TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr1:109707134C>T ENST00000369939.3 + 3 471 c.288C>T c.(286-288)aaC>aaT p.N96N KIAA1324_ENST00000529753.1_Silent_p.N96N NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 96 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TCTCCTGCAACGCCGGGGAGT 0.592000 76 18 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087565 49087565 + Nonsense_Mutation SNP C C A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr12:49087565C>A ENST00000261900.3 - 9 1654 c.1432G>T c.(1432-1434)Gag>Tag p.E478* NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 478 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 TTTATCTCCTCTGGTTTTGAA 0.453000 36 65 1.836e-18 1.93263e-18 1 1 0 COLGALT1 79709 broad.mit.edu 37 19 17690296 17690296 + Silent SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr19:17690296G>A ENST00000252599.4 + 10 1392 c.1272G>A c.(1270-1272)gtG>gtA p.V424V NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 CTCAGGTGGTGGACCGGGGGC 0.562000 29 42 0 0 1 0 0 GCM1 8521 broad.mit.edu 37 6 52993190 52993190 + Silent SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr6:52993190G>A ENST00000259803.7 - 6 1336 c.1125C>T c.(1123-1125)taC>taT p.Y375Y NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 375 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) GAGACTGGACGTAGCTGTTAA 0.483000 5 186 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430773 78430773 + Nonsense_Mutation SNP C C A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr1:78430773C>A ENST00000370767.1 - 8 703 c.616G>T c.(616-618)Gaa>Taa p.E206* FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E206*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E227* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 206 KH 2. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TTAATAGTTTCTCCCCCTTTT 0.393000 """F, N""" oligodendroglioma 105 29 3.41453e-61 3.69138e-61 1 1 0 LRRC3 81543 broad.mit.edu 37 21 45876870 45876870 + Silent SNP C C T rs138458454 TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr21:45876870C>T ENST00000291592.4 + 2 660 c.343C>T c.(343-345)Ctg>Ttg p.L115L NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 115 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) GGCCGGGGGCCTGCGGCTGCT 0.672000 4 49 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485439 57485439 + Silent SNP G G C TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr12:57485439G>C ENST00000300131.3 + 2 993 c.615G>C c.(613-615)tcG>tcC p.S205S NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.S205S|NAB2_ENST00000342556.6_Silent_p.S205S NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 205 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AGGCTGGCTCGCCCCCCTTCT 0.726000 4 11 0 0 1 0 0 CHRNA3 0 broad.mit.edu 37 15 78894483 78894483 + Silent SNP C C T TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr15:78894483C>T ENST00000326828.5 - 5 885 c.501G>A c.(499-501)ccG>ccA p.P167P CHRNA3_ENST00000348639.3_Silent_p.P167P NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 167 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGTAATCAAACGGGAAGTAGG 0.483000 28 137 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371421 240371421 + Silent SNP C C T TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr1:240371421C>T ENST00000319653.9 + 5 3539 c.3309C>T c.(3307-3309)ccC>ccT p.P1103P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1103 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1246P(2) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCTACCCGGAGTGGGCA 0.736000 5 182 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88681327 88681327 + Missense_Mutation SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr10:88681327G>A ENST00000372037.2 + 11 1754 c.1217G>A c.(1216-1218)cGc>cAc p.R406H NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 406 Protein kinase. BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 GGCACCAAACGCTACATGGCT 0.473000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 4 157 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167870912 167870912 + Nonsense_Mutation SNP G G A TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr1:167870912G>A ENST00000367848.1 - 5 645 c.148C>T c.(148-150)Cga>Tga p.R50* ADCY10_ENST00000367851.4_Nonsense_Mutation_p.R142*|ADCY10_ENST00000545172.1_Intron Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 142 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ATCTTGACTCGGATGTCTAGG 0.463000 76 84 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 7 56 --- --- --- --- POLR2J4 0 broad.mit.edu 37 7 44056176 44056177 + RNA DEL CT CT - TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr7:44056176_44056177delCT ENST00000427076.1 - 0 89 NR_003655.2 TCCTCCCACCCTGAGTCTAAAC 0.559 3 6 --- --- --- --- RP11-26J3.1 0 broad.mit.edu 37 8 80777174 80777174 + RNA DEL G G - rs66517530 TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr8:80777174delG ENST00000502766.2 - 0 302 ggggcagggcggggggggggg 0.592 2 4 --- --- --- --- RBM4 5936 broad.mit.edu 37 11 66411034 66411035 + Frame_Shift_Ins INS - - CGATAGAT TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr11:66411034_66411035insCGATAGAT ENST00000409406.1 + 2 1303_1304 c.526_527insCGATAGAT c.(526-528)gatfs p.D176fs RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_Frame_Shift_Ins_p.D176fs|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.D151fs|RBM4_ENST00000408993.2_Frame_Shift_Ins_p.D176fs|RBM4_ENST00000503028.2_Frame_Shift_Ins_p.D176fs|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.D151fs|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron RNA binding motif protein 4 endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) CAAAGAGTGTCCGATAGATCGT 0.579 14 81 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 9 252 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42794411 42794411 + Frame_Shift_Del DEL T T - TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chr19:42794411delT ENST00000572681.2 + 11 4286 c.4218delT c.(4216-4218)ccfs p.P1406fs CIC_ENST00000160740.3_Frame_Shift_Del_p.P497fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.P497fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding 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) TGTTTTCACCTGTGATCCGTT 0.617 """Mis, F, S""" oligodendroglioma 82 27 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-HT-7471-01A-11D-2253-08 TCGA-HT-7471-10B-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06425414-a57c-40df-905e-290fa2086153 d0b349eb-d50b-43ec-903d-e8494d8705ca g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 428 --- --- --- ---