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 CUX2 23316 broad.mit.edu 37 12 111748437 111748437 + Silent SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr12:111748437G>A ENST00000261726.6 + 15 2005 c.1851G>A c.(1849-1851)tcG>tcA p.S617S NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 617 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGTTCCTGTCGGATGAGCAGA 0.652000 27 28 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35037113 35037113 + Silent SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr5:35037113G>A ENST00000231420.6 - 4 620 c.420C>T c.(418-420)gtC>gtT p.V140V NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 140 V -> I (in dbSNP:rs37369). glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GGTGGAAGAAGACGGTGCTTG 0.517000 7 59 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3214422 3214422 + Missense_Mutation SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr4:3214422G>A ENST00000355072.5 + 49 6905 c.6760G>A c.(6760-6762)Gtg>Atg p.V2254M NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2254 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GAAATTCGTGGTGGCAACCCT 0.547000 15 74 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52886575 52886575 + Missense_Mutation SNP C C T TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr12:52886575C>T ENST00000330722.6 - 1 466 c.398G>A c.(397-399)gGa>gAa p.G133E NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 133 Head. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TTGGATGCCTCCAGGGGGGCA 0.632000 22 23 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279830 46279830 + Silent SNP G G A rs147918555 TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr20:46279830G>A ENST00000372004.3 + 20 3960 c.3744G>A c.(3742-3744)caG>caA p.Q1248Q NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1252 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1252Q(3) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.547000 6 54 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1570263 1570263 + Missense_Mutation SNP T T C TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr16:1570263T>C ENST00000426508.2 - 28 4105 c.3742A>G c.(3742-3744)Atc>Gtc p.I1248V IFT140_ENST00000361339.5_Missense_Mutation_p.I442V NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1248 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) GCAGCCATGATGTAGATTTCC 0.577000 50 65 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161143573 161143573 + Silent SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr6:161143573G>A ENST00000308192.9 + 10 1293 c.1230G>A c.(1228-1230)caG>caA p.Q410Q NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 410 Kringle 4. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACCGGCACCAGAAGACCCCAG 0.483000 12 151 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162275516 162275516 + Silent SNP C C T TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr2:162275516C>T ENST00000389554.3 + 4 1400 c.1083C>T c.(1081-1083)ttC>ttT p.F361F TBR1_ENST00000410035.1_Silent_p.F74F NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 361 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CGTTCACTTTCCCTGAGACTC 0.632000 43 72 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131893129 131893129 + Missense_Mutation SNP A A G TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr5:131893129A>G ENST00000265335.6 + 1 500 c.113A>G c.(112-114)aAt>aGt p.N38S RAD50_ENST00000378823.3_5'UTR Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 38 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTTGGACCCAATGGGGCGGGA 0.453000 Homologous recombination 22 33 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183245244 183245244 + Missense_Mutation SNP C C A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr4:183245244C>A ENST00000511685.1 + 2 194 c.71C>A c.(70-72)aCa>aAa p.T24K TENM3_ENST00000406950.2_Missense_Mutation_p.T24K teneurin transmembrane protein 3 CGGCGCTACACAAATTCCTCC 0.517000 4 33 0.014758 0.014758 1 1 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 5 30 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48646633 48646633 + Silent SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr17:48646633G>A ENST00000352832.5 + 3 834 c.462G>A c.(460-462)cgG>cgA p.R154R CACNA1G_ENST00000510115.1_Silent_p.R154R|CACNA1G_ENST00000502264.1_Silent_p.R154R|CACNA1G_ENST00000510366.1_Silent_p.R154R|CACNA1G_ENST00000358244.5_Silent_p.R154R|CACNA1G_ENST00000442258.2_Silent_p.R154R|CACNA1G_ENST00000360761.4_Silent_p.R154R|CACNA1G_ENST00000354983.4_Silent_p.R154R|CACNA1G_ENST00000507896.1_Silent_p.R154R|CACNA1G_ENST00000429973.2_Silent_p.R154R|CACNA1G_ENST00000507510.2_Silent_p.R154R|CACNA1G_ENST00000507609.1_Silent_p.R154R|CACNA1G_ENST00000507336.1_Silent_p.R154R|CACNA1G_ENST00000514181.1_Silent_p.R154R|CACNA1G_ENST00000512389.1_Silent_p.R154R|CACNA1G_ENST00000505165.1_Silent_p.R154R|CACNA1G_ENST00000416767.4_Silent_p.R154R|CACNA1G_ENST00000515765.1_Silent_p.R154R|CACNA1G_ENST00000503485.1_Silent_p.R154R|CACNA1G_ENST00000515411.1_Silent_p.R154R|CACNA1G_ENST00000515165.1_Silent_p.R154R|CACNA1G_ENST00000514717.1_Silent_p.R154R|CACNA1G_ENST00000513964.1_Silent_p.R154R|CACNA1G_ENST00000514079.1_Silent_p.R154R|CACNA1G_ENST00000513689.2_Silent_p.R154R|CACNA1G_ENST00000359106.5_Silent_p.R154R NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 154 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CTTGGAACCGGCTTGACTTTT 0.562000 4 65 0 0 1 0 0 CCS 9973 broad.mit.edu 37 11 66368006 66368006 + Nonsense_Mutation SNP C C T TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr11:66368006C>T ENST00000533244.1 + 5 916 c.475C>T c.(475-477)Cag>Tag p.Q159* CCS_ENST00000310190.4_Nonsense_Mutation_p.Q140* NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 159 Superoxide dismutase-like. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 TGGGGGCCCCCAGGACTCTGA 0.562000 4 70 0 0 1 0 0 TRBV6-5 0 broad.mit.edu 37 7 142180997 142180997 + RNA SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr7:142180997G>A ENST00000390368.2 - 0 19 GTGCATTGATGAAAGGGGAGC 0.592000 3 27 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 648477 648477 + Missense_Mutation SNP A A G TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr17:648477A>G ENST00000576778.1 - 1 4114 c.2773T>C c.(2773-2775)Tgg>Cgg p.W925R GEMIN4_ENST00000319004.5_Missense_Mutation_p.W936R P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 936 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) ACGTGGTTCCAGCCTTCCAGA 0.577000 2 2 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 20 35 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158596678 158596678 + Silent SNP A A G TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr1:158596678A>G ENST00000368148.3 - 41 5964 c.5784T>C c.(5782-5784)taT>taC p.Y1928Y SPTA1_ENST00000368147.3_Silent_p.Y1925Y|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1928 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTGAAAGGCATAATCGTCTT 0.438000 70 84 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28909640 28909640 + Silent SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr16:28909640G>A ENST00000395503.4 + 14 1816 c.1632G>A c.(1630-1632)aaG>aaA p.K544K ATP2A1_ENST00000536376.1_Silent_p.K419K|ATP2A1_ENST00000357084.3_Silent_p.K544K NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 544 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TGAAGGAAAAGATCATGGCGG 0.652000 6 84 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29631557 29631557 + Missense_Mutation SNP A A G rs11525721 by1000genomes TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr20:29631557A>G ENST00000278882.3 + 7 733 c.353A>G c.(352-354)aAa>aGa p.K118R FRG1B_ENST00000358464.4_Missense_Mutation_p.K118R p.K118R(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGTGCTGAAAAAGAAACCAAG 0.333000 3 42 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143094935 143094935 + Silent SNP T T A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr4:143094935T>A ENST00000513000.1 - 17 1642 c.1209A>T c.(1207-1209)tcA>tcT p.S403S INPP4B_ENST00000262992.4_Silent_p.S403S|INPP4B_ENST00000308502.4_Silent_p.S403S|INPP4B_ENST00000508116.1_Silent_p.S403S|INPP4B_ENST00000509777.1_Silent_p.S403S NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 403 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TGTTTTCAGGTGAATAGTAAA 0.383000 36 66 0 0 1 0 0 MC2R 0 broad.mit.edu 37 18 13884744 13884744 + Silent SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr18:13884744G>A ENST00000327606.3 - 2 954 c.774C>T c.(772-774)ttC>ttT p.F258F NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 258 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) CGTTCACCTGGAAGAGAGACA 0.517000 29 30 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56132818 56132818 + Missense_Mutation SNP C C T TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr15:56132818C>T ENST00000508342.1 - 16 3502 c.3203G>A c.(3202-3204)gGc>gAc p.G1068D NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 1068 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CAACAGTTTGCCATGATAAAC 0.338000 4 115 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 218 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27216911 27216911 + Missense_Mutation SNP G G A rs149942995 TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr6:27216911G>A ENST00000230582.3 + 4 385 c.370G>A c.(370-372)Gcc>Acc p.A124T PRSS16_ENST00000421826.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 124 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity p.A124T(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 AGCCTGGGGCGCCCTGGTGAT 0.592000 7 65 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36121334 36121334 + Missense_Mutation SNP C C T TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr4:36121334C>T ENST00000303965.4 - 24 4390 c.3901G>A c.(3901-3903)Gaa>Aaa p.E1301K NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1301 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ACTTGATCTTCTTTAACCTGT 0.299000 19 55 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113495 55113495 + Silent SNP C C T TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr6:55113495C>T ENST00000370862.3 + 2 618 c.282C>T c.(280-282)gtC>gtT p.V94V NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 94 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACTTCATAGTCAATCTTTCTC 0.453000 5 189 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13670699 13670699 + Missense_Mutation SNP G G A rs111284875 TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr3:13670699G>A ENST00000404922.3 + 13 2868 c.2749G>A c.(2749-2751)Ggt>Agt p.G917S FBLN2_ENST00000535798.1_Missense_Mutation_p.G896S|FBLN2_ENST00000492059.1_Missense_Mutation_p.G917S|FBLN2_ENST00000295760.7_Missense_Mutation_p.G870S NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 913 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCACCGCTGCGGTGAGGGCCA 0.642000 10 27 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72156845 72156845 + Missense_Mutation SNP T T C TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr8:72156845T>C ENST00000340726.3 - 12 1772 c.1133A>G c.(1132-1134)gAc>gGc p.D378G EYA1_ENST00000388743.2_Missense_Mutation_p.D377G|EYA1_ENST00000388742.4_Missense_Mutation_p.D378G|EYA1_ENST00000388741.2_Missense_Mutation_p.D344G|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.D345G|EYA1_ENST00000303824.7_Missense_Mutation_p.D372G NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 378 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TACTTCTAAGTCATTAAAAAA 0.279000 9 15 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031030 32031030 + Silent SNP T T C TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr3:32031030T>C ENST00000360311.4 + 2 1008 c.459T>C c.(457-459)gaT>gaC p.D153D NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 CTATCAAAGATCAGCTTGGAT 0.398000 39 51 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995803 19995803 + Missense_Mutation SNP G G A TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr18:19995803G>A ENST00000391403.2 - 1 2075 c.1972C>T c.(1972-1974)Cct>Tct p.P658S NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 658 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) ACAAAGCCAGGGCCAGTTGCT 0.463000 10 278 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7576615 7576615 + Missense_Mutation SNP C C T TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr6:7576615C>T ENST00000379802.3 + 19 3060 c.2719C>T c.(2719-2721)Cgc>Tgc p.R907C DSP_ENST00000418664.2_Missense_Mutation_p.R907C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 907 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGATGCTAAACGCCGCCAGGA 0.423000 32 40 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121676713 121676713 + Missense_Mutation SNP T T C TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr7:121676713T>C ENST00000393386.2 + 18 5755 c.5344T>C c.(5344-5346)Tat>Cat p.Y1782H PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y915H NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1782 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACTGACTGATTATATCAATGC 0.303000 21 28 0 0 1 0 0 TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 9 184 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - rs142343457 byFrequency TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr8:28209226_28209228delGCA ENST00000344423.5 - 7 1148_1150 c.1017_1019delTGC c.(1015-1020)gcc>gc p.AA339del ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 7 120 --- --- --- --- CPEB3 22849 broad.mit.edu 37 10 93870871 93870872 + Frame_Shift_Del DEL AG AG - TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr10:93870871_93870872delAG ENST00000412050.4 - 7 1579_1580 c.1491_1492delCT c.(1489-1494)ctacfs p.LY497fs CPEB3_ENST00000265997.4_Frame_Shift_Del_p.LY511fs NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 511 RRM 1. nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) ACACACAGGTAGAGTTTCCCAT 0.465 17 132 --- --- --- --- SLC22A20 0 broad.mit.edu 37 11 64981480 64981481 + RNA INS - - C TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr11:64981480_64981481insC ENST00000525437.1 + 0 170_171 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 ACGGCCGCTGTCCCCCCCCACC 0.693 2 4 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57589082 57589084 + In_Frame_Del DEL CTC CTC - TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr12:57589082_57589084delCTC ENST00000243077.3 + 52 8803_8805 c.8337_8339delCTC c.(8335-8340)ttc>tt p.FS2779del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2779 LDL-receptor class A 17. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCCTCCTTCTCCTGCCCTGGC 0.611 58 132 --- --- --- --- PPL 5493 broad.mit.edu 37 16 4935555 4935557 + In_Frame_Del DEL AGG AGG - TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr16:4935555_4935557delAGG ENST00000345988.2 - 22 3188_3190 c.3099_3101delCCT c.(3097-3102)ctg>ct p.LL1033del PPL_ENST00000590782.2_In_Frame_Del_p.LL1031del NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1033 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ACGCTGCTGCAGGAGGAGCACCT 0.660 24 59 --- --- --- --- RBBP6 5930 broad.mit.edu 37 16 24582708 24582709 + Frame_Shift_Del DEL AA AA - rs140198744 byFrequency TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr16:24582708_24582709delAA ENST00000319715.4 + 18 4753_4754 c.4321_4322delAA c.(4321-4323)afs p.K1441fs RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K601fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1407fs NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1441 Interaction with p53 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AGGAAATTTTAAAAGTCTGTCT 0.391 25 81 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42793215 42793218 + Frame_Shift_Del DEL CAGT CAGT - TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr19:42793215_42793218delCAGT ENST00000572681.2 + 8 3902_3905 c.3834_3837delCAGT c.(3832-3837)gafs p.DS1278fs CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 369 Pro-rich. 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) GAGAAGTAGACAGTCAGGCGCTAC 0.667 """Mis, F, S""" oligodendroglioma 12 74 --- --- --- --- ZNF135 7694 broad.mit.edu 37 19 58578565 58578568 + Frame_Shift_Del DEL GAGA GAGA - TCGA-R8-A6MK-01A-11D-A32B-08 TCGA-R8-A6MK-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 527952da-86f1-497f-9891-a7728bb2699a a1a9a719-4580-47e5-b1cf-ee58268f754f g.chr19:58578565_58578568delGAGA ENST00000506786.1 + 5 1141_1144 c.587_590delGAGA c.(586-591)ggfs p.GE196fs ZNF135_ENST00000359978.6_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000313434.5_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000439855.2_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000511556.1_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000401053.4_Frame_Shift_Del_p.GE262fs B4DHH9 B4DHH9_HUMAN zinc finger protein 135 250 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) ACGCACACAGGAGAGAGACCTTAC 0.475 17 86 --- --- --- ---