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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut C1orf127 148345 broad.mit.edu 37 1 11008388 11008388 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:11008388C>T uc010oao.1 - 8 1362 c.1357G>A c.(1357-1359)GAG>AAG p.E453K C1orf127_uc001arr.1_Missense_Mutation_p.E435K|C1orf127_uc001ars.1_Missense_Mutation_p.E427K NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 453 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ACCAGCTCCTCTGCAGCCAGT 0.672 NA 17 35 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22166366 22166366 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:22166366C>T uc001bfj.2 - 72 9698 c.9658G>A c.(9658-9660)GAG>AAG p.E3220K HSPG2_uc009vqd.2_Missense_Mutation_p.E3221K NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3220 Ig-like C2-type 18. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACAGTCAGCTCAGCTTCTTCA 0.642 NA 28 61 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27088651 27088651 + Nonsense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:27088651C>T uc001bmv.1 + 7 2633 c.2260C>T c.(2260-2262)CAG>TAG p.Q754* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q754*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q754*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q371* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 754 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGGTTATATGCAGAGGAACCC 0.498 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 5 87 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43826219 43826219 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:43826219C>T uc001cix.2 + 7 904 c.803C>T c.(802-804)TCT>TTT p.S268F CDC20_uc001ciy.2_Missense_Mutation_p.S268F NM_001255 NP_001246 Q12834 CDC20_HUMAN cell division cycle 20 268 WD 3. activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCAGTCACTCTGCCCGAGTG 0.498 Esophageal Squamous(137;1154 1759 10362 10401 46925) NA 43 70 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109358811 109358811 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:109358811C>G uc001dwa.2 - 16 2762 c.2493G>C c.(2491-2493)AGG>AGC p.R831S AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 831 ovary(3) 3 TCAGTCGATTCCTCCACCTCT 0.373 NA 30 45 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144994592 144994592 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:144994592C>T uc001elw.3 - 1 431 c.140G>A c.(139-141)CGG>CAG p.R47Q NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Missense_Mutation_p.R47Q|PDE4DIP_uc001ell.1_Missense_Mutation_p.R50Q|PDE4DIP_uc001elm.3_Missense_Mutation_p.R15Q|PDE4DIP_uc001eln.3_Missense_Mutation_p.R113Q|PDE4DIP_uc001elo.2_Missense_Mutation_p.R184Q|PDE4DIP_uc001elx.3_Missense_Mutation_p.R113Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R47Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R47Q|PDE4DIP_uc001emg.1_Missense_Mutation_p.R47Q|PDE4DIP_uc001emh.2_Missense_Mutation_p.R184Q NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 47 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCACTCACCCGCTTGTAGAT 0.612 NA T PDGFRB MPD 6 164 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285020 152285020 + Missense_Mutation SNP T T C rs138055273 byFrequency TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:152285020T>C uc001ezu.1 - 3 2378 c.2342A>G c.(2341-2343)GAC>GGC p.D781G uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 781 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGACCGGTCACGTGCGGA 0.562 NA Ichthyosis 101 364 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154543728 154543728 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:154543728C>T uc001ffg.2 + 5 693 c.429C>T c.(427-429)ATC>ATT p.I143I NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 143 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) ATGGCAGCATCTTCTGGCTGC 0.537 NA 31 119 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170003513 170003513 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:170003513C>G uc001ggv.2 - 7 1013 c.742G>C c.(742-744)GTT>CTT p.V248L KIFAP3_uc010ply.1_3'UTR|KIFAP3_uc001ggw.1_3'UTR NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 248 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAAAGGATATCAGCTTTCTTC 0.328 NA 10 38 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133601 177133601 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:177133601C>A uc001glc.2 - 1 424 c.212G>T c.(211-213)CGC>CTC p.R71L ASTN1_uc001glb.1_Missense_Mutation_p.R71L|ASTN1_uc001gld.1_Missense_Mutation_p.R71L|ASTN1_uc009wwx.1_Missense_Mutation_p.R71L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 71 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GAAGTCGTTGCGCACCGAGAA 0.647 NA 13 18 0.00136819 0.00139292 1 1 0 ZNF648 127665 broad.mit.edu 37 1 182026921 182026921 + Silent SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:182026921G>T uc001goz.2 - 2 433 c.225C>A c.(223-225)GGC>GGA p.G75G NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTCCTCTTTGCCCAGTGGAT 0.567 NSCLC(71;908 1374 5429 20458 35642) NA 19 44 6.49762e-13 7.1305e-13 1 1 0 RNASEL 6041 broad.mit.edu 37 1 182555637 182555637 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:182555637G>A uc001gpj.1 - 1 472 c.305C>T c.(304-306)GCG>GTG p.A102V RNASEL_uc009wxz.1_Missense_Mutation_p.A102V|RNASEL_uc001gpk.2_Missense_Mutation_p.A102V|RNASEL_uc009wya.1_Missense_Mutation_p.A102V NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 102 ANK 3. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 CACGCTCCCCGCAATCGCTGC 0.498 NA Hereditary_Prostate_Cancer 9 36 0 0 1 0 0 RGS16 6004 broad.mit.edu 37 1 182571203 182571203 + Nonsense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:182571203C>T uc001gpl.3 - 4 439 c.285G>A c.(283-285)TGG>TGA p.W95* RGS16_uc010pnv.1_Nonsense_Mutation_p.W95* NM_002928 NP_002919 O15492 RGS16_HUMAN regulator of G-protein signalling 16 95 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(1) 1 CACAGGCCAGCCAGAACTCCA 0.537 NA OREG0014036 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 75 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186023068 186023068 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:186023068C>T uc001grq.1 + 44 7041 c.6812C>T c.(6811-6813)GCG>GTG p.A2271V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2271 Ig-like C2-type 20. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCATGTGTGGCGTCGAATGTT 0.403 NA 14 67 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197036345 197036345 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:197036345C>T uc001gtt.1 - 1 53 c.9G>A c.(7-9)TTG>TTA p.L3L NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 3 blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCAGGTTTTTCAACCTCATCT 0.299 NA 9 49 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197411420 197411420 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:197411420G>A uc001gtz.2 + 11 4138 c.4003G>A c.(4003-4005)GAC>AAC p.D1335N CRB1_uc010poz.1_Missense_Mutation_p.D1311N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.D1223N|CRB1_uc010ppb.1_Missense_Mutation_p.D799N|CRB1_uc010ppd.1_Missense_Mutation_p.D816N|CRB1_uc001gub.1_3'UTR NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1335 Extracellular (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTGCGAGGTGGACGTAAGCAG 0.483 NA 115 138 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201868453 201868453 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:201868453C>G uc001gxb.2 - 2 1936 c.1688G>C c.(1687-1689)GGA>GCA p.G563A LMOD1_uc010ppu.1_Missense_Mutation_p.G512A NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 563 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 GACTTTGTCTCCCATCTTCCT 0.567 NA 6 5 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214788288 214788288 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:214788288C>G uc001hkm.2 + 3 450 c.276C>G c.(274-276)GTC>GTG p.V92V NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 92 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AACTTCAAGTCAAGGAGTCAC 0.368 Colon(80;575 1284 11000 14801 43496) NA 12 41 0 0 1 0 0 OPN3 23596 broad.mit.edu 37 1 241767856 241767856 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:241767856G>A uc001hza.2 - 2 544 c.399C>T c.(397-399)ACC>ACT p.T133T OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_Intron NM_014322 NP_055137 Q9H1Y3 OPN3_HUMAN opsin 3 133 Helical; Name=3; (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity 0 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AGGCCAGCACGGTTAGGGTGG 0.507 NA 6 25 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7759700 7759700 + Silent SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:7759700C>A uc001ijs.2 + 6 741 c.579C>A c.(577-579)TCC>TCA p.S193S NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 193 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AGCTGGGCTCCTATGAGCACA 0.498 NA 3 51 0.004672 0.00469981 1 1 0 TAF3 83860 broad.mit.edu 37 10 7860740 7860740 + Missense_Mutation SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:7860740G>T uc010qbd.1 + 1 68 c.68G>T c.(67-69)TGG>TTG p.W23L NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 23 W->R: Loss of interaction with TAF10.|WDS -> TRP (in Ref. 4; CAB56032). maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 GCGCTGGGCTGGGACTCGGTG 0.667 NA 7 2 8.12818e-05 8.4794e-05 1 1 0 WAPAL 23063 broad.mit.edu 37 10 88213467 88213467 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:88213467C>G uc001kdo.2 - 13 3221 c.2779G>C c.(2779-2781)GAG>CAG p.E927Q WAPAL_uc009xsv.2_Missense_Mutation_p.E241Q|WAPAL_uc001kdn.2_Missense_Mutation_p.E964Q|WAPAL_uc009xsw.2_Missense_Mutation_p.E921Q NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 927 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 ATGCAGTCCTCCACTGCTTTG 0.413 NA 19 19 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88677025 88677025 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:88677025C>T uc001kdy.2 + 9 1358 c.810C>T c.(808-810)AGC>AGT p.S270S NM_004329 NP_004320 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 270 Cytoplasmic (Potential).|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 lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 8 AAGAAGCCAGCTGGTTTCGAG 0.448 Ovarian(190;603 2086 22044 30335 47971) NA Mis|N|F gastrointestinal polyps Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis 4 6 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123670659 123670659 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:123670659G>A uc001lfp.2 - 5 427 c.345C>T c.(343-345)CCC>CCT p.P115P ATE1_uc001lfq.2_Silent_p.P115P|ATE1_uc010qtr.1_5'UTR|ATE1_uc010qts.1_Silent_p.P19P|ATE1_uc010qtt.1_Silent_p.P108P|ATE1_uc001lfr.2_5'UTR|ATE1_uc009xzu.2_Intron NM_007041 NP_008972 O95260 ATE1_HUMAN arginyltransferase 1 isoform 2 115 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity 0 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) TGGAATCCATGGGCTCATCTA 0.358 NA 27 21 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5536678 5536678 + Missense_Mutation SNP T T G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:5536678T>G uc001maz.3 - 1 1279 c.994A>C c.(994-996)ATC>CTC p.I332L HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 332 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CTATTATAGATGACTCGGGTT 0.498 NA 30 56 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9861153 9861153 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:9861153C>G uc001mib.2 - 26 3485 c.3347G>C c.(3346-3348)AGA>ACA p.R1116T SBF2_uc001mif.3_Missense_Mutation_p.R872T|uc001mig.2_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1116 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CTGATAGTCTCTGAAACAAGC 0.463 NA 4 100 0 0 1 0 0 SLC39A13 91252 broad.mit.edu 37 11 47431696 47431696 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:47431696C>G uc009ylq.2 + 2 222 c.51C>G c.(49-51)CTC>CTG p.L17L SLC39A13_uc001nfd.2_Silent_p.L17L|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Silent_p.L17L|SLC39A13_uc001nfg.3_Silent_p.L17L NM_001128225 NP_001121697 Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), 17 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity 0 Lung(87;0.0936) CAAGGCTCCTCTTCCTCACTG 0.637 NA 30 75 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346598 48346598 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:48346598G>C uc010rhv.1 + 1 106 c.106G>C c.(106-108)GAA>CAA p.E36Q NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AAATATCACAGAATTTTTCAT 0.408 NA 23 69 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224646 59224646 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:59224646C>T uc010rku.1 + 1 213 c.213C>T c.(211-213)ATC>ATT p.I71I NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCCTGGACATCGTTTTTTCAT 0.463 NA 19 55 0 0 1 0 0 CCDC83 220047 broad.mit.edu 37 11 85626533 85626533 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:85626533C>T uc001pbh.1 + 9 1378 c.866C>T c.(865-867)ACA>ATA p.T289I CCDC83_uc001pbg.1_Missense_Mutation_p.T320I|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.T190I NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 289 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TTGCCAGAAACACATATAGGT 0.353 NA 14 42 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120298837 120298837 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:120298837C>T uc001pxl.1 + 8 473 c.466C>T c.(466-468)CTT>TTT p.L156F ARHGEF12_uc009zat.2_Missense_Mutation_p.L137F|ARHGEF12_uc010rzn.1_Missense_Mutation_p.L53F|ARHGEF12_uc009zau.1_Missense_Mutation_p.L53F NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 156 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CCAGATTCCACTTGCCGACTC 0.527 NA T MLL AML 54 103 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124619682 124619682 + Missense_Mutation SNP C C T rs114520645 by1000genomes TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:124619682C>T uc001qas.2 - 4 584 c.508G>A c.(508-510)GAG>AAG p.E170K VSIG2_uc001qat.2_Missense_Mutation_p.E170K NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 170 Extracellular (Potential).|Ig-like C2-type. integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GGAGCCCCCTCGGAAGAGCTG 0.512 NA 15 46 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7188187 7188187 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:7188187C>G uc010sfy.1 - 10 1826 c.1767G>C c.(1765-1767)TTG>TTC p.L589F NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 589 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CATAGCCCATCAAGCCCAGGT 0.567 NA 8 23 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967475 41967475 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:41967475G>A uc010skn.1 + 10 2365 c.2297G>A c.(2296-2298)CGA>CAA p.R766Q PDZRN4_uc001rmq.3_Missense_Mutation_p.R707Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.R705Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.R592Q NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 965 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTCATGATGCGAAGCAGGTTA 0.507 NA 5 16 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44124206 44124206 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:44124206C>T uc001rnq.3 - 9 2568 c.2079G>A c.(2077-2079)CTG>CTA p.L693L PUS7L_uc001rnr.3_Silent_p.L693L|PUS7L_uc001rns.3_Silent_p.L693L|PUS7L_uc009zkb.2_Silent_p.L380L NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 693 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTATTTCCTTCAGACAAACGG 0.338 NA 15 34 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48179570 48179570 + Missense_Mutation SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:48179570A>G uc010slo.1 - 23 2866 c.2671T>C c.(2671-2673)TCT>CCT p.S891P HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.S325P|HDAC7_uc001rqj.3_Missense_Mutation_p.S854P|HDAC7_uc001rqk.3_Missense_Mutation_p.S874P|HDAC7_uc010slp.1_Missense_Mutation_p.S135P NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 852 Histone deacetylase. negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) CAGGCCTCAGAGGCGTCACAG 0.602 NA 3 4 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56398128 56398128 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:56398128G>C uc001six.2 + 6 1281 c.955G>C c.(955-957)GAG>CAG p.E319Q SUOX_uc001siy.2_Missense_Mutation_p.E319Q|SUOX_uc001siz.2_Missense_Mutation_p.E319Q|SUOX_uc001sja.2_Missense_Mutation_p.E319Q NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 319 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CGTCTGCTTTGAGGGACTGGA 0.602 NA 17 22 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67699360 67699360 + Missense_Mutation SNP T T C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:67699360T>C uc001stn.2 + 10 2349 c.1912T>C c.(1912-1914)TCA>CCA p.S638P CAND1_uc001sto.2_Missense_Mutation_p.S148P NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 638 HEAT 14. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GATTGCTGGGTCACCTTTGAA 0.413 NA 35 89 0 0 1 0 0 DUSP6 1848 broad.mit.edu 37 12 89743067 89743067 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:89743067C>G uc001tay.2 - 3 1590 c.1110G>C c.(1108-1110)CAG>CAC p.Q370H DUSP6_uc001taz.2_Missense_Mutation_p.Q224H NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a 370 Tyrosine-protein phosphatase. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 GGTATACATTCTGGTTGGAAG 0.547 Colon(132;3456 5224) NA 30 56 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558864 129558864 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:129558864G>C uc009zyl.1 - 9 3184 c.2856C>G c.(2854-2856)TTC>TTG p.F952L TMEM132D_uc001uia.2_Missense_Mutation_p.F490L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 952 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCTGCTCCTCGAAGGGAACCT 0.463 NA 32 59 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216038 20216038 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:20216038G>A uc010tkt.1 + 1 452 c.452G>A c.(451-453)TGT>TAT p.C151Y NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCTGCTGGTGTGGGGGTTTT 0.498 NA 14 48 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502887 20502887 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:20502887C>T uc010tkz.1 - 1 31 c.31G>A c.(31-33)GAA>AAA p.E11K NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAAATAAATTCCGATACCACT 0.373 NA 8 30 0 0 1 0 0 KIAA0391 9692 broad.mit.edu 37 14 35739633 35739633 + Missense_Mutation SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:35739633A>G uc001wsy.1 + 7 1811 c.1451A>G c.(1450-1452)TAT>TGT p.Y484C KIAA0391_uc010tps.1_Missense_Mutation_p.Y389C|KIAA0391_uc001wsz.1_Missense_Mutation_p.Y468C|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.Y468C|KIAA0391_uc001wtc.1_Missense_Mutation_p.Y112C NM_014672 NP_055487 O15091 MRRP3_HUMAN mitochondrial RNase P protein 3 precursor 484 tRNA processing mitochondrion 0 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) TTCCTTCTGTATGCCACACTG 0.512 NA 19 46 0 0 1 0 0 NKX2-1 7080 broad.mit.edu 37 14 36988447 36988447 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:36988447G>A uc001wtt.2 - 1 457 c.116C>T c.(115-117)GCG>GTG p.A39V SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.A69V|NKX2-1_uc001wtv.2_Missense_Mutation_p.A39V|uc001wtw.1_5'Flank NM_003317 NP_003308 P43699 NKX21_HUMAN thyroid transcription factor 1 isoform 2 39 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding skin(1) 1 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) CCTGTACGCCGCCAGCGGAGC 0.682 NA A NSCLC 9 26 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58599890 58599890 + Silent SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:58599890C>A uc001xdc.2 - 3 1650 c.1539G>T c.(1537-1539)CTG>CTT p.L513L C14orf37_uc010tro.1_Silent_p.L551L|C14orf37_uc001xdd.2_Silent_p.L513L|C14orf37_uc001xde.2_Silent_p.L513L NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 513 Extracellular (Potential). integral to membrane binding 0 ATCTTCTTGACAGCTGAGTAA 0.498 NA 22 55 1.10513e-12 1.20495e-12 1 1 0 ATP6V1D 51382 broad.mit.edu 37 14 67807182 67807182 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:67807182C>T uc001xjf.2 - 8 753 c.577G>A c.(577-579)GAG>AAG p.E193K ATP6V1D_uc001xje.2_RNA NM_015994 NP_057078 Q9Y5K8 VATD_HUMAN H(+)-transporting two-sector ATPase 193 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1)|lung(1) 2 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) CGCTCTCTCTCATCCAGCTCT 0.358 NA 19 36 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72139160 72139160 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:72139160G>A uc001xms.2 + 9 3273 c.2925G>A c.(2923-2925)GCG>GCA p.A975A SIPA1L1_uc001xmt.2_Silent_p.A975A|SIPA1L1_uc001xmu.2_Silent_p.A975A|SIPA1L1_uc001xmv.2_Silent_p.A975A|SIPA1L1_uc010ttm.1_Silent_p.A450A NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 975 PDZ. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GCATTGTGGCGGATGTGGAGC 0.562 NA 23 34 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99927677 99927677 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:99927677C>A uc001ygc.2 - 4 367 c.197G>T c.(196-198)GGT>GTT p.G66V SETD3_uc001ygd.2_Missense_Mutation_p.G66V|SETD3_uc001ygf.2_Missense_Mutation_p.G66V NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 66 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) AACGGACAGACCTATATTAAT 0.373 NA 12 43 0.00136819 0.00139292 1 1 0 C15orf2 23742 broad.mit.edu 37 15 24924444 24924444 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:24924444G>C uc001ywo.2 + 1 3904 c.3430G>C c.(3430-3432)GAA>CAA p.E1144Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 1144 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTATGGACAAGAAACATATGT 0.448 NA 25 57 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25958906 25958906 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:25958906G>A uc010ayu.2 - 10 2365 c.2259C>T c.(2257-2259)ATC>ATT p.I753I NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 753 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCGGGTGCCGGATCACCACTG 0.602 NA 10 36 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27182355 27182355 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:27182355G>A uc001zbd.1 + 9 943 c.604G>A c.(604-606)GTT>ATT p.V202I GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 202 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCTGAAGTCGTTTACGTCTG 0.512 NA 15 34 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41961679 41961679 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:41961679C>G uc001zog.1 + 2 678 c.587C>G c.(586-588)TCT>TGT p.S196C MGA_uc010ucy.1_Missense_Mutation_p.S196C|MGA_uc010ucz.1_Missense_Mutation_p.S196C NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 196 T-box. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATCTTGCACTCTATGCATCGT 0.448 NA 51 95 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42040834 42040834 + Splice_Site SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:42040834G>A uc010ucy.1 + 16 5394 c.5213_splice c.e16-1 p.E1738_splice MGA_uc010ucz.1_Splice_Site_p.E1529_splice|MGA_uc010uda.1_Splice_Site_p.E354_splice|MGA_uc001zoi.2_5'Flank NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTGTTTTTCAGAAAATGCTGC 0.368 NA 4 9 0 0 1 0 0 FAM63B 54629 broad.mit.edu 37 15 59064389 59064389 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:59064389C>T uc002afj.2 + 1 997 c.795C>T c.(793-795)CCC>CCT p.P265P FAM63B_uc002afi.2_Silent_p.P265P|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 265 central_nervous_system(1) 1 AGAACGGACCCTGCCCCTTGC 0.527 NA 14 28 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59323235 59323235 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:59323235C>G uc002afv.2 + 2 493 c.214C>G c.(214-216)CAA>GAA p.Q72E RNF111_uc002afs.2_Missense_Mutation_p.Q72E|RNF111_uc002aft.2_Missense_Mutation_p.Q72E|RNF111_uc002afu.2_Missense_Mutation_p.Q72E|RNF111_uc002afw.2_Missense_Mutation_p.Q72E NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 72 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) TGATGATTCTCAAAAGCAAGA 0.443 NSCLC(72;983 1365 10746 34387 47081) NA 10 15 0 0 1 0 0 HAGHL 84264 broad.mit.edu 37 16 777579 777579 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:777579G>A uc002cjl.1 + 2 351 c.70G>A c.(70-72)GAG>AAG p.E24K CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_5'Flank|CCDC78_uc002cjg.2_5'Flank|CCDC78_uc002cjj.3_5'Flank|CCDC78_uc002cjh.2_5'Flank|CCDC78_uc010uuo.1_5'Flank|CCDC78_uc002cjk.2_5'Flank|HAGHL_uc002cjm.1_Missense_Mutation_p.E24K|HAGHL_uc002cjn.1_Missense_Mutation_p.E24K|HAGHL_uc002cjo.1_Missense_Mutation_p.E24K|HAGHL_uc010uup.1_Missense_Mutation_p.E24K NM_207112 NP_996995 Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like isoform 1 24 hydrolase activity|metal ion binding 0 Hepatocellular(780;0.00335) GCTCACGCGCGAGGCGGTGGC 0.701 Pancreas(46;538 1326 12403 32360) NA 4 15 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10995954 10995954 + Missense_Mutation SNP A A C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:10995954A>C uc002dai.3 + 7 674 c.541A>C c.(541-543)ACC>CCC p.T181P CIITA_uc002daj.3_Missense_Mutation_p.T182P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.T181P|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.T181P NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 181 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 CGACTGCTCCACCCTGCCCTG 0.617 NA T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 7 58 0 0 1 0 0 CES7 221223 broad.mit.edu 37 16 55905608 55905608 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:55905608C>T uc002eip.2 - 3 495 c.346G>A c.(346-348)GGA>AGA p.G116R CES7_uc002eio.2_Missense_Mutation_p.G116R|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.G10R NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 116 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) TCTGACACTCCGAATTTCGGG 0.537 NA 12 25 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56436943 56436943 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:56436943G>A uc002eiy.2 - 7 1133 c.928C>T c.(928-930)CGT>TGT p.R310C AMFR_uc002eix.2_Silent_p.F7F NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor 310 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2) 2 TTGTGCCGACGAATTCGACGT 0.428 Pancreas(2;144 323 39528) NA 25 55 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88872241 88872241 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:88872241G>C uc002flu.2 + 5 850 c.796G>C c.(796-798)GAT>CAT p.D266H NM_030928 NP_112190 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 266 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) CAGGAGGTCAGATTACCAGCT 0.617 Melanoma(159;511 3380 30971) NA 9 15 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613864 27613864 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:27613864G>C uc002hdy.3 - 2 1237 c.1148C>G c.(1147-1149)TCT>TGT p.S383C NUFIP2_uc002hdx.3_Intron NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein 383 Ser-rich. nucleus|polysomal ribosome protein binding|RNA binding skin(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) AGATGATGAAGATGATGAAGA 0.393 NA 5 142 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29664477 29664477 + Silent SNP T T G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:29664477T>G uc002hgg.2 + 43 6852 c.6519T>G c.(6517-6519)GCT>GCG p.A2173A NF1_uc002hgh.2_Silent_p.A2152A|NF1_uc010cso.2_Silent_p.A361A|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2173 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.E2143_S2180del(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCAAGTCAGCTGCTGTCATTG 0.453 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 13 54 0 0 1 0 0 PSMD11 5717 broad.mit.edu 37 17 30781559 30781559 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:30781559C>G uc010cta.1 + 3 280 c.240C>G c.(238-240)ATC>ATG p.I80M PSMD11_uc010wbz.1_Missense_Mutation_p.I80M|PSMD11_uc002hhm.2_Missense_Mutation_p.I80M NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 80 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) TGAATTCCATCAGCAAGGCTA 0.428 Ovarian(130;1038 1716 9294 11987 19279) NA 24 68 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486375 36486375 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:36486375C>T uc002hpz.2 - 11 3098 c.3077G>A c.(3076-3078)CGA>CAA p.R1026Q NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1026 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GAGCCTGGCTCGAGCTGGGGC 0.612 NA 14 51 0 0 1 0 0 PSMC3IP 29893 broad.mit.edu 37 17 40729545 40729545 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:40729545C>G uc002iai.2 - 2 112 c.69G>C c.(67-69)CAG>CAC p.Q23H PSMC3IP_uc002iaj.2_5'UTR|PSMC3IP_uc002iak.2_Missense_Mutation_p.Q23H|PSMC3IP_uc010wgn.1_5'UTR|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA NM_016556 NP_057640 Q9P2W1 HOP2_HUMAN PSMC3 interacting protein isoform 2 23 DNA recombination|meiosis nucleus DNA binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395) BRCA - Breast invasive adenocarcinoma(366;0.13) AGGGCCGGTTCTGCTCCTGCA 0.662 NA 16 34 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60655841 60655841 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:60655841G>A uc010ddp.2 + 15 1526 c.1258G>A c.(1258-1260)GAA>AAA p.E420K TLK2_uc002izx.3_Missense_Mutation_p.E246K|TLK2_uc002izz.3_Missense_Mutation_p.E398K|TLK2_uc002jaa.3_Missense_Mutation_p.E366K|TLK2_uc010wpd.1_Missense_Mutation_p.E366K NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 420 Potential. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 GCTTTAGGAGGAAGCAGAGAT 0.368 NA 8 32 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28602410 28602410 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr18:28602410C>T uc002kwj.3 - 7 989 c.834G>A c.(832-834)ACG>ACA p.T278T DSC3_uc002kwi.3_Silent_p.T278T NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 278 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) ATTTCAGGCGCGTATGCATTG 0.453 NA 3 40 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48584552 48584552 + Nonsense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr18:48584552C>G uc010xdp.1 + 6 1263 c.725C>G c.(724-726)TCA>TGA p.S242* SMAD4_uc010xdo.1_RNA|SMAD4_uc002lfb.3_Nonsense_Mutation_p.S87* NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 242 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CAGATAGCATCAGGGCCTCAG 0.433 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 14 8 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785556 1785556 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:1785556C>T uc002ltw.2 - 26 3539 c.3305G>A c.(3304-3306)CGC>CAC p.R1102H ATP8B3_uc002ltv.2_Missense_Mutation_p.R1065H|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1102 Extracellular (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCGTGTCGCGGCTGATCCA 0.602 NA 10 15 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3381997 3381997 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:3381997C>G uc010xhi.1 + 2 380 c.318C>G c.(316-318)CTC>CTG p.L106L NFIC_uc002lxo.2_Silent_p.L97L|NFIC_uc010xhh.1_Silent_p.L97L|NFIC_uc002lxp.2_Silent_p.L106L|NFIC_uc010xhj.1_Silent_p.L106L|NFIC_uc002lxq.1_Silent_p.L58L NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 106 CTF/NF-I. DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GCTGCGTGCTCTCCAACCCCG 0.667 NA 42 53 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6707234 6707234 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:6707234C>G uc002mfm.2 - 17 2160 c.2098G>C c.(2098-2100)GAG>CAG p.E700Q NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 700 Anaphylatoxin-like. E -> Q (in Ref. 5; AA sequence). complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ATGGGGTTCTCCCGCATGCCG 0.652 NA 8 12 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 44980651 44980651 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:44980651G>C uc002ozf.3 - 5 2329 c.2047C>G c.(2047-2049)CAT>GAT p.H683D ZNF180_uc002ozh.3_Missense_Mutation_p.H340D|ZNF180_uc002ozi.3_Missense_Mutation_p.H656D|ZNF180_uc002ozg.3_Missense_Mutation_p.H682D|ZNF180_uc010ejm.2_Missense_Mutation_p.H658D NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 683 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) TCTTCAGTATGAGTTGCCTGA 0.313 Esophageal Squamous(180;1353 2003 32862 46574 49854) NA 26 67 0 0 1 0 0 FTL 2512 broad.mit.edu 37 19 49469553 49469553 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:49469553G>C uc002plo.2 + 3 464 c.265G>C c.(265-267)GAG>CAG p.E89Q FTL_uc002pln.1_3'UTR NM_000146 NP_000137 P02792 FRIL_HUMAN ferritin, light polypeptide 89 Ferritin-like diiron. E -> W (in Ref. 12; AA sequence). cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) AGCTGAAGATGAGTGGGGTAA 0.512 NA 15 31 0 0 1 0 0 FTL 2512 broad.mit.edu 37 19 49469609 49469609 + Silent SNP G G T rs11553263 TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:49469609G>T uc002plo.2 + 3 520 c.321G>T c.(319-321)CTG>CTT p.L107L FTL_uc002pln.1_3'UTR NM_000146 NP_000137 P02792 FRIL_HUMAN ferritin, light polypeptide 107 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) AGAAAAAGCTGAACCAGGCCC 0.547 NA 17 28 3.52763e-06 3.77323e-06 1 1 0 SPIB 6689 broad.mit.edu 37 19 50926966 50926966 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:50926966G>A uc002psd.2 + 5 469 c.444G>A c.(442-444)TCG>TCA p.S148S SPIB_uc002pse.2_Silent_p.S148S|SPIB_uc010ycc.1_Silent_p.S57S NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 148 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding lung(1)|kidney(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACAGCGAGTCGGATGAGGCCC 0.672 NA 4 13 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52658555 52658555 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:52658555G>A uc010ydi.1 - 5 2755 c.2381C>T c.(2380-2382)GCA>GTA p.A794V ZNF836_uc010ydj.1_Missense_Mutation_p.A794V NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 794 C2H2-type 21. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCGATGACGTGCTAGTGTTGA 0.423 NA 38 65 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028392 59028392 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:59028392C>T uc002qtd.2 - 2 941 c.649G>A c.(649-651)GAG>AAG p.E217K ZBTB45_uc002qte.2_Missense_Mutation_p.E217K|ZBTB45_uc002qtf.2_Missense_Mutation_p.E217K NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CCATCGGTCTCATCGTCACTT 0.652 NSCLC(164;1383 2017 5233 27540 46677) NA OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 324 0 0 1 0 0 C2orf63 130162 broad.mit.edu 37 2 55439826 55439826 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:55439826G>C uc002ryi.2 - 5 828 c.482C>G c.(481-483)CCT>CGT p.P161R C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Missense_Mutation_p.P39R NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 161 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) AGGTTTTGAAGGATCTTTGGA 0.313 NA 12 31 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63280140 63280140 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:63280140C>T uc002scd.2 + 3 263 c.15C>T c.(13-15)CTC>CTT p.L5L OTX1_uc010ypt.1_5'UTR NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 5 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) TGTCTTACCTCAAACAACCCC 0.687 NA 18 92 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71901354 71901354 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:71901354G>A uc002sie.2 + 51 6071 c.5695G>A c.(5695-5697)GAG>AAG p.E1899K DYSF_uc010feg.2_Missense_Mutation_p.E1930K|DYSF_uc010feh.2_Missense_Mutation_p.E1906K|DYSF_uc002sig.3_Missense_Mutation_p.E1885K|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1920K|DYSF_uc010fef.2_Missense_Mutation_p.E1937K|DYSF_uc010fei.2_Missense_Mutation_p.E1916K|DYSF_uc010fek.2_Missense_Mutation_p.E1917K|DYSF_uc010fej.2_Missense_Mutation_p.E1907K|DYSF_uc010fel.2_Missense_Mutation_p.E1886K|DYSF_uc010feo.2_Missense_Mutation_p.E1931K|DYSF_uc010fem.2_Missense_Mutation_p.E1921K|DYSF_uc010fen.2_Missense_Mutation_p.E1938K|DYSF_uc002sif.2_Missense_Mutation_p.E1900K|DYSF_uc010yqy.1_Missense_Mutation_p.E780K|DYSF_uc010yqz.1_Missense_Mutation_p.E660K NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1899 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GGACAAGACTGAGAGCAAAAT 0.502 NA 16 24 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101245 80101245 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:80101245G>A uc010ysh.1 + 5 634 c.629G>A c.(628-630)CGA>CAA p.R210Q CTNNA2_uc010yse.1_Missense_Mutation_p.R210Q|CTNNA2_uc010ysf.1_Missense_Mutation_p.R210Q|CTNNA2_uc010ysg.1_Missense_Mutation_p.R210Q NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 210 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GCAGCCGCCCGAGGGGCTCTG 0.512 NA 13 38 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105859054 105859054 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:105859054C>T uc002tco.1 + 1 855 c.739C>T c.(739-741)CGG>TGG p.R247W NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 247 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GGCGGGCCTGCGGCGCCTGCA 0.642 NA 41 76 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145161555 145161555 + Silent SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:145161555G>C uc002tvu.2 - 6 1215 c.735C>G c.(733-735)CTC>CTG p.L245L ZEB2_uc002tvv.2_Silent_p.L239L|ZEB2_uc010zbm.1_Silent_p.L216L|ZEB2_uc010fnp.2_Silent_p.L153L|ZEB2_uc010fnq.1_Silent_p.L274L NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 245 C2H2-type 2. cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TGTAGCTACAGAGAGGGCAGG 0.512 Melanoma(33;1235 1264 5755 16332) NA 30 62 0 0 1 0 0 IFIH1 64135 broad.mit.edu 37 2 163134108 163134108 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:163134108C>G uc002uce.2 - 10 2083 c.1861G>C c.(1861-1863)GAT>CAT p.D621H NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 621 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GTATACGCATCTATCATTCGA 0.299 NA 24 44 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165584560 165584560 + Nonsense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:165584560G>A uc010zcw.1 - 6 863 c.739C>T c.(739-741)CAA>TAA p.Q247* COBLL1_uc002ucp.2_Nonsense_Mutation_p.Q194*|COBLL1_uc002ucq.2_Nonsense_Mutation_p.Q194*|COBLL1_uc010zcx.1_Nonsense_Mutation_p.Q240*|COBLL1_uc002ucs.1_RNA NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 232 ovary(2)|pancreas(1) 3 TCCTGCGATTGATAATCTTTC 0.393 NA 34 50 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180014079 180014079 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:180014079C>T uc002uni.3 - 7 676 c.526G>A c.(526-528)GAA>AAA p.E176K NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 176 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AAAGCAAGTTCATCTAATAAT 0.289 NA 6 12 0 0 1 0 0 XRCC5 7520 broad.mit.edu 37 2 217012854 217012854 + Nonsense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:217012854C>T uc002vfy.2 + 14 1665 c.1525C>T c.(1525-1527)CAG>TAG p.Q509* XRCC5_uc002vfz.2_Nonsense_Mutation_p.Q395* NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 509 Pro-rich. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) ACCCCCAATTCAGCAGCATAT 0.433 NA Direct_reversal_of_damage|NHEJ 43 77 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231135347 231135347 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:231135347G>A uc002vql.2 + 15 1606 c.1491G>A c.(1489-1491)AGG>AGA p.R497R SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.R383R|SP140_uc002vqm.2_Silent_p.R437R|SP140_uc010fxl.2_Silent_p.R470R NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 497 Nuclear localization signal (Potential). defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AACCCAAGAGGAAAAGAAGTA 0.284 NA 5 26 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25263896 25263896 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:25263896G>A uc002wup.2 + 13 1712 c.1603G>A c.(1603-1605)GTG>ATG p.V535M NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 535 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) CATCAGGGACGTGGCCAAGGT 0.622 NA 25 26 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T T C rs111331725 by1000genomes TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:29628261T>C uc010ztl.1 + 3 205 c.173T>C c.(172-174)TTT>TCT p.F58S FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.F10S Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 AATAGCTGCTTTATTAGATGC 0.363 NA 5 41 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 42984468 42984468 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:42984468C>T uc002xlv.2 + 1 28 c.24C>T c.(22-24)CTC>CTT p.L8L HNF4A_uc010zwo.1_5'UTR|HNF4A_uc002xlt.2_Silent_p.L8L|HNF4A_uc002xlu.2_Silent_p.L8L NM_175914 NP_787110 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform d 156 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ACGCGCCCCTCGGGGCTCCAG 0.682 Colon(79;2 1269 8820 14841 52347) NA 20 9 0 0 1 0 0 SLC17A9 63910 broad.mit.edu 37 20 61596969 61596969 + Missense_Mutation SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:61596969G>T uc002yea.3 + 10 1137 c.953G>T c.(952-954)GGC>GTC p.G318V SLC17A9_uc002ydz.3_Missense_Mutation_p.G312V|SLC17A9_uc011aap.1_Missense_Mutation_p.G338V NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 318 Helical; (Potential). exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 CAGGGCATGGGCCTTGGCCTC 0.662 NA 62 163 2.32099e-22 2.58057e-22 1 1 0 PTK6 5753 broad.mit.edu 37 20 62168655 62168655 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:62168655C>A uc002yfg.2 - 1 53 c.13G>T c.(13-15)GAC>TAC p.D5Y PTK6_uc011aay.1_5'UTR|PTK6_uc011aba.1_Missense_Mutation_p.D5Y NM_005975 NP_005966 Q13882 PTK6_HUMAN PTK6 protein tyrosine kinase 6 5 cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|kidney(1) 2 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) TGAGCCTGGTCCCGGGACACC 0.711 NA 9 4 0.000442599 0.000458891 1 1 0 IL10RB 3588 broad.mit.edu 37 21 34649001 34649001 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr21:34649001G>A uc002yrk.1 + 3 373 c.274G>A c.(274-276)GAA>AAA p.E92K IL10RB_uc002yrh.1_Missense_Mutation_p.E162K|IL10RB_uc002yri.1_Missense_Mutation_p.E45K|IL10RB_uc002yrl.1_Missense_Mutation_p.E94K NM_000628 NP_000619 Q08334 I10R2_HUMAN interleukin 10 receptor, beta precursor 92 Extracellular (Potential). immune response|inflammatory response interleukin-28 receptor complex protein binding|receptor activity 0 AGTCAGGGCTGAATTTGCAGA 0.393 Melanoma(67;315 1275 21667 21943 44564) NA 45 77 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29668239 29668239 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr22:29668239G>A uc003aet.2 + 2 376 c.48G>A c.(46-48)CAG>CAA p.Q16Q EWSR1_uc003aes.3_Silent_p.Q16Q|EWSR1_uc003aev.2_Silent_p.Q16Q|EWSR1_uc003aew.2_Silent_p.Q16Q|EWSR1_uc003aex.2_Silent_p.Q16Q NM_005243 NP_005234 Q01844 EWS_HUMAN Ewing sarcoma breakpoint region 1 isoform 2 16 31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).|1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2) bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1) 3254 CAGCGCAGCAGGGGTAAGTCA 0.368 NA T FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1 Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma 17 29 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38274173 38274173 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr22:38274173G>A uc003auf.2 + 11 1657 c.1570G>A c.(1570-1572)GAT>AAT p.D524N EIF3L_uc003aue.1_Missense_Mutation_p.D524N|EIF3L_uc011ann.1_Missense_Mutation_p.D476N|EIF3L_uc003aug.2_Missense_Mutation_p.D416N|EIF3L_uc003auh.2_Missense_Mutation_p.D257N NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 524 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 CTTCTACATTGATAAGGTATG 0.338 NA 17 31 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19940970 19940970 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:19940970C>A uc003cbl.3 - 7 1652 c.1456G>T c.(1456-1458)GAT>TAT p.D486Y EFHB_uc003cbm.2_Missense_Mutation_p.D356Y NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 486 signal transduction proteinaceous extracellular matrix calcium ion binding 0 TCTTTGAAATCATCTGCTCTT 0.294 NA 21 12 1.22574e-08 1.32788e-08 1 1 0 SCN11A 11280 broad.mit.edu 37 3 38938482 38938482 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:38938482C>A uc011ays.1 - 14 2456 c.2257G>T c.(2257-2259)GAT>TAT p.D753Y SCN11A_uc010hhn.1_5'Flank NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 753 II. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGCCAGAAATCCCCCATGTGC 0.488 NA 12 11 2.27111e-07 2.4447e-07 1 1 0 TTC21A 199223 broad.mit.edu 37 3 39159580 39159580 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:39159580G>A uc003cjc.2 + 7 914 c.737G>A c.(736-738)AGC>AAC p.S246N TTC21A_uc003cja.2_Missense_Mutation_p.S246N|TTC21A_uc010hho.1_Missense_Mutation_p.S168N|TTC21A_uc003cjb.2_3'UTR|TTC21A_uc003cje.2_Missense_Mutation_p.S246N|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.S205N NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 246 TPR 5. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AAAGATGAGAGCAATATTGAT 0.378 NA 32 22 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307728 39307728 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:39307728C>T uc003cjl.2 - 2 365 c.273G>A c.(271-273)TTG>TTA p.L91L NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 91 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TTTCATTTATCAAATAGTGAG 0.463 NA 17 27 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763268 44763268 + Missense_Mutation SNP A A G rs145256884 TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:44763268A>G uc011baa.1 + 4 1214 c.959A>G c.(958-960)GAA>GGA p.E320G ZNF502_uc003cns.2_Missense_Mutation_p.E320G|ZNF502_uc011bab.1_Missense_Mutation_p.E320G|ZNF502_uc003cnt.2_Missense_Mutation_p.E320G NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) CACACTGGGGAAAAACCCCAT 0.403 NA 3 82 0 0 1 0 0 EAF2 55840 broad.mit.edu 37 3 121591540 121591540 + Nonsense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:121591540C>A uc003een.2 + 5 740 c.641C>A c.(640-642)TCA>TAA p.S214* EAF2_uc003eeo.2_Nonsense_Mutation_p.S84* NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 214 Necessary for transactivation activity. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) AATTGTGTCTCAGGACATCCT 0.393 Esophageal Squamous(194;1942 2097 24663 29345 31866) NA 3 51 0.004672 0.00469981 1 1 0 SLC7A14 57709 broad.mit.edu 37 3 170216672 170216672 + Silent SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:170216672C>A uc003fgz.2 - 4 859 c.543G>T c.(541-543)GGG>GGT p.G181G CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 181 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CTTCACCTTTCCCTAGAGAGG 0.488 NA 13 12 9.31168e-06 9.83546e-06 1 1 0 RNF168 165918 broad.mit.edu 37 3 196199040 196199040 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:196199040C>G uc003fwq.2 - 6 1904 c.1366G>C c.(1366-1368)GAG>CAG p.E456Q RNF168_uc010iah.2_Missense_Mutation_p.E289Q|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 456 MIU motif 2. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTATCCACCTCCTTCTGAAGT 0.423 NA 65 50 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389587 1389587 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:1389587C>T uc003gdf.2 + 1 4248 c.1288C>T c.(1288-1290)CGT>TGT p.R430C NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 430 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTTTTTAATACGTTTTTATGT 0.443 NA 9 52 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3156082 3156082 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:3156082G>A uc011bvq.1 + 28 3712 c.3567G>A c.(3565-3567)GAG>GAA p.E1189E NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1187 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 skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGGGGAAGGAGAAAGAACCAG 0.453 NA 4 9 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6580191 6580191 + Silent SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:6580191G>C uc003gjf.1 + 3 393 c.357G>C c.(355-357)GTG>GTC p.V119V MAN2B2_uc003gje.1_Silent_p.V119V|MAN2B2_uc011bwf.1_Silent_p.V119V NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 119 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 ACGAGGCTGTGACGCACCTTG 0.592 NA 4 10 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26675489 26675489 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:26675489G>C uc003gsf.3 + 11 1065 c.795G>C c.(793-795)TTG>TTC p.L265F TBC1D19_uc010iew.2_Missense_Mutation_p.L265F|TBC1D19_uc011bxu.1_Missense_Mutation_p.L200F NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 265 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) CTCTCATTTTGAATATTTCCA 0.393 NA 5 17 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109784503 109784503 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:109784503C>T uc003hze.1 - 20 1655 c.1124G>A c.(1123-1125)CGA>CAA p.R375Q COL25A1_uc003hzg.2_Missense_Mutation_p.R375Q|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.R156Q NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 375 Extracellular (Potential).|Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AGGTTCCCCTCGCTCACCTCT 0.493 NA 8 16 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581355 7581355 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:7581355G>A uc003mxp.1 + 23 5211 c.4932G>A c.(4930-4932)CTG>CTA p.L1644L DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1644 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATGGCCACCTGAGGGAAAAGC 0.567 NA 40 19 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123793 26123793 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:26123793C>G uc003ngk.3 - 1 362 c.340G>C c.(340-342)GAG>CAG p.E114Q HIST1H2BC_uc003ngl.2_Missense_Mutation_p.E114Q|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN histone cluster 1, H2bc 114 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 TTGGTGCCCTCCGACACGGCG 0.582 NA 21 49 0 0 1 0 0 TREML1 340205 broad.mit.edu 37 6 41118012 41118012 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:41118012C>G uc011duc.1 - 5 652 c.608G>C c.(607-609)AGA>ACA p.R203T TREML1_uc003opx.2_Intron|TREML1_uc011dud.1_Missense_Mutation_p.R92T NM_178174 NP_835468 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid 203 Cytoplasmic (Potential). calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCTGAAACTCTGCTGCTCAG 0.572 NA 9 15 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146351273 146351273 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:146351273C>G uc010khw.1 + 2 1090 c.620C>G c.(619-621)TCT>TGT p.S207C GRM1_uc010khu.1_Missense_Mutation_p.S207C|GRM1_uc010khv.1_Missense_Mutation_p.S207C|GRM1_uc003qll.2_Missense_Mutation_p.S207C|GRM1_uc011edz.1_Missense_Mutation_p.S207C|GRM1_uc011eea.1_Missense_Mutation_p.S207C NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 207 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTTGTCCCTTCTGACACTTTG 0.478 NA 20 60 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151089832 151089832 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:151089832C>T uc003qny.1 + 4 782 c.470C>T c.(469-471)TCA>TTA p.S157L PLEKHG1_uc011eel.1_Missense_Mutation_p.S197L|PLEKHG1_uc011eem.1_Missense_Mutation_p.S216L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S157L NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 157 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAAGAAAGATCAGCCCTTTTT 0.393 NA 3 20 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134880 27134880 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:27134880C>A uc003sye.2 - 1 746 c.652G>T c.(652-654)GGG>TGG p.G218W HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 218 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 CAGGACTGACCTGTTTTGGGA 0.463 NA 9 18 0.000673444 0.000693976 1 1 0 COBL 23242 broad.mit.edu 37 7 51096213 51096213 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:51096213C>G uc003tpr.3 - 10 2765 c.2580G>C c.(2578-2580)CAG>CAC p.Q860H COBL_uc003tps.2_Missense_Mutation_p.Q917H|COBL_uc011kcl.1_Missense_Mutation_p.Q860H|COBL_uc003tpp.3_Missense_Mutation_p.Q646H|COBL_uc003tpq.3_Missense_Mutation_p.Q801H|COBL_uc003tpo.3_Missense_Mutation_p.Q402H NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 860 skin(3)|ovary(2) 5 Glioma(55;0.08) ACGTTCTTCTCTGAGGCTTGA 0.587 NSCLC(189;2119 2138 12223 30818 34679) NA 32 37 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096593 51096593 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:51096593C>T uc003tpr.3 - 10 2385 c.2200G>A c.(2200-2202)GAC>AAC p.D734N COBL_uc003tps.2_Missense_Mutation_p.D791N|COBL_uc011kcl.1_Missense_Mutation_p.D734N|COBL_uc003tpp.3_Missense_Mutation_p.D520N|COBL_uc003tpq.3_Missense_Mutation_p.D675N|COBL_uc003tpo.3_Missense_Mutation_p.D276N NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 734 skin(3)|ovary(2) 5 Glioma(55;0.08) CCCAGCTCGTCAATCTTAATG 0.507 NSCLC(189;2119 2138 12223 30818 34679) NA 14 30 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763767 92763767 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:92763767G>A uc003umh.1 - 5 2734 c.1518C>T c.(1516-1518)AGC>AGT p.S506S SAMD9L_uc003umj.1_Silent_p.S506S|SAMD9L_uc003umi.1_Silent_p.S506S|SAMD9L_uc010lfb.1_Silent_p.S506S|SAMD9L_uc003umk.1_Silent_p.S506S|SAMD9L_uc010lfc.1_Silent_p.S506S|SAMD9L_uc010lfd.1_Silent_p.S506S|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 506 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TATATGTCTCGCTTTTCAGGT 0.378 NA 38 70 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100457570 100457570 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:100457570G>C uc003uwp.2 + 8 1183 c.1041G>C c.(1039-1041)TTG>TTC p.L347F SLC12A9_uc003uwq.2_Missense_Mutation_p.L258F|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.L83F|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Missense_Mutation_p.L83F|SLC12A9_uc003uwv.2_5'UTR NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 347 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CACTGGTGTTGATCGGAATCT 0.597 NA 25 53 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143633081 143633081 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:143633081C>T uc011ktv.1 + 1 756 c.756C>T c.(754-756)TAC>TAT p.Y252Y NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CCCTGTGCTACGGCACAACGA 0.512 NA 22 42 0 0 1 0 0 NPM2 10361 broad.mit.edu 37 8 21890671 21890671 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr8:21890671C>T uc003xab.2 + 5 959 c.301C>T c.(301-303)CCA>TCA p.P101S NPM2_uc003xac.2_Missense_Mutation_p.P101S|NPM2_uc003xad.2_Missense_Mutation_p.P101S|NPM2_uc003xae.2_Missense_Mutation_p.P101S|NPM2_uc003xaf.2_Missense_Mutation_p.P101S NM_182795 NP_877724 Q86SE8 NPM2_HUMAN nucleoplasmin 2 101 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding 0 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) GCTTTCTCCCCCAGTTACTTT 0.597 NA 8 44 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95406084 95406084 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr8:95406084C>G uc003ygk.2 - 9 1503 c.1405G>C c.(1405-1407)GAA>CAA p.E469Q RAD54B_uc010may.1_Missense_Mutation_p.E276Q|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GCAAAAAATTCTTGCAGATCA 0.318 NA Direct_reversal_of_damage|Homologous_recombination 29 57 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958264 143958264 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr8:143958264C>G uc003yxi.2 - 4 640 c.633G>C c.(631-633)CTG>CTC p.L211L CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Silent_p.L211L|CYP11B1_uc010mey.2_Silent_p.L282L NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 211 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGTGGCCAACCAGGCCCAGCC 0.627 NA Familial_Hyperaldosteronism_type_I 8 13 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13126722 13126722 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr9:13126722C>G uc010mia.1 - 32 4571 c.4514G>C c.(4513-4515)GGA>GCA p.G1505A MPDZ_uc003zky.3_Missense_Mutation_p.G67A|MPDZ_uc010mib.2_Missense_Mutation_p.G210A|MPDZ_uc010mhx.2_Missense_Mutation_p.G327A|MPDZ_uc011lmm.1_Missense_Mutation_p.G364A|MPDZ_uc003zkz.3_Missense_Mutation_p.G198A|MPDZ_uc010mhy.2_Missense_Mutation_p.G1505A|MPDZ_uc010mhz.2_Missense_Mutation_p.G1472A|MPDZ_uc011lmn.1_Missense_Mutation_p.G1472A|MPDZ_uc003zlb.3_Missense_Mutation_p.G1505A NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1505 PDZ 9. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TATGATGACTCCACTGAGTGT 0.408 NA 5 14 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31279101 31279101 + Missense_Mutation SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:31279101G>T uc004dda.1 - 63 9501 c.9257C>A c.(9256-9258)CCC>CAC p.P3086H DMD_uc004dcq.1_Missense_Mutation_p.P357H|DMD_uc004dcr.1_Missense_Mutation_p.P626H|DMD_uc004dcs.1_Missense_Mutation_p.P626H|DMD_uc004dct.1_Missense_Mutation_p.P626H|DMD_uc004dcu.1_Missense_Mutation_p.P626H|DMD_uc004dcv.1_Missense_Mutation_p.P626H|DMD_uc004dcw.2_Missense_Mutation_p.P1742H|DMD_uc004dcx.2_Missense_Mutation_p.P1745H|DMD_uc004dcz.2_Missense_Mutation_p.P2963H|DMD_uc004dcy.1_Missense_Mutation_p.P3082H|DMD_uc004ddb.1_Missense_Mutation_p.P3078H|DMD_uc004dcm.1_Missense_Mutation_p.P18H|DMD_uc004dcn.1_Missense_Mutation_p.P18H|DMD_uc004dco.1_Missense_Mutation_p.P18H|DMD_uc004dcp.1_Missense_Mutation_p.P18H|DMD_uc011mkb.1_Missense_Mutation_p.P18H|DMD_uc010ngm.2_Missense_Mutation_p.P18H NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3086 Interaction with SYNM (By similarity).|WW. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGTCATTTTGGGATGGTCCCA 0.393 NA 17 28 1.00905e-13 1.11457e-13 1 1 0 HDAC6 10013 broad.mit.edu 37 X 48681322 48681322 + Missense_Mutation SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:48681322A>G uc011mmi.1 + 25 2608 c.2513A>G c.(2512-2514)AAG>AGG p.K838R HDAC6_uc004dks.1_Missense_Mutation_p.K838R|HDAC6_uc010nig.1_Missense_Mutation_p.K686R|HDAC6_uc004dkt.1_Missense_Mutation_p.K838R|HDAC6_uc011mmk.1_Missense_Mutation_p.K819R|HDAC6_uc004dkv.1_Missense_Mutation_p.K486R|HDAC6_uc004dkw.1_Missense_Mutation_p.K486R|HDAC6_uc004dkx.1_Missense_Mutation_p.K201R NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 838 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) CTGGTTCCAGAGGTAGAAGAC 0.572 Pancreas(112;205 1675 2305 8976 15959) NA 3 24 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54950106 54950106 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:54950106C>G uc004dtq.2 + 3 1248 c.1141C>G c.(1141-1143)CAG>GAG p.Q381E TRO_uc011moj.1_Missense_Mutation_p.Q324E|TRO_uc004dts.2_Missense_Mutation_p.Q381E|TRO_uc004dtr.2_Missense_Mutation_p.Q381E|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 381 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CCTTGAGACTCAGGTTGCTGC 0.577 NA 6 18 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57935303 57935303 + Missense_Mutation SNP A A T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:57935303A>T uc004dve.2 - 1 1765 c.1552T>A c.(1552-1554)TGT>AGT p.C518S NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 518 Required for interaction with ZXDC.|C2H2-type 9. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AACCTGGCACAGCAGCCTGCC 0.542 NA 19 24 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964097 73964097 + Missense_Mutation SNP T T C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:73964097T>C uc004eby.2 - 3 912 c.295A>G c.(295-297)ATC>GTC p.I99V NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 99 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GTGAGGGAGATGGCATTCACA 0.517 NA 4 85 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105167115 105167115 + Silent SNP A A T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:105167115A>T uc004emd.2 + 18 2919 c.2616A>T c.(2614-2616)CCA>CCT p.P872P NRK_uc010npc.1_Silent_p.P540P NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 872 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CACAGGTTCCAGATGGATTTA 0.363 NA HNSCC(51;0.14) 44 83 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117788871 117788871 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:117788871C>T uc004eqp.2 + 44 4979 c.4916C>T c.(4915-4917)GCG>GTG p.A1639V DOCK11_uc004eqq.2_Missense_Mutation_p.A1418V NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1639 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 TTTCAGGCTGCGATGTGTTAT 0.378 NA 43 76 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135115594 135115594 + Missense_Mutation SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:135115594A>G uc004ezj.2 + 14 1649 c.1573A>G c.(1573-1575)AGA>GGA p.R525G SLC9A6_uc004ezk.2_Missense_Mutation_p.R557G NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 525 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) AAATGAAAGGAGAACTACCAA 0.353 NA 45 83 0 0 1 0 0 CD99L2 83692 broad.mit.edu 37 X 149944650 149944650 + Nonsense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:149944650G>A uc004fel.2 - 9 770 c.652C>T c.(652-654)CAG>TAG p.Q218* CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Nonsense_Mutation_p.Q169*|CD99L2_uc004fen.2_Nonsense_Mutation_p.Q146*|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Nonsense_Mutation_p.Q145* NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 218 Cytoplasmic (Potential). cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CACTTACGCTGAATGCTGAAG 0.612 NA 21 43 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303180 151303180 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:151303180C>T uc004ffk.2 - 5 1321 c.913G>A c.(913-915)GAA>AAA p.E305K MAGEA10_uc004ffl.2_Missense_Mutation_p.E305K NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 305 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTAATTTCAGCATGAGCC 0.502 NA 7 179 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150789333 150789333 + Frame_Shift_Del DEL G G - TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:150789333delG uc001evr.1 - 18 1876 c.1733delC c.(1732-1734)CCTfs p.P578fs ARNT_uc010pck.1_Frame_Shift_Del_p.P67fs|ARNT_uc001evs.1_Frame_Shift_Del_p.P563fs|ARNT_uc009wmb.1_Frame_Shift_Del_p.P564fs|ARNT_uc009wmc.1_Frame_Shift_Del_p.P578fs|ARNT_uc009wmd.1_Frame_Shift_Del_p.P563fs NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 578 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TTGGGTGGCAGGGACAGTGCT 0.537 NA T ETV6 AML 24 60 --- --- --- --- NA NA NA NA NA FASLG 356 broad.mit.edu 37 1 172633495 172633495 + Frame_Shift_Del DEL A A - rs35774809 TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:172633495delA uc001gis.2 + 3 573 c.416delA c.(415-417)GAAfs p.E139fs FASLG_uc001git.2_Frame_Shift_Del_p.K124fs NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 139 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 CCACCCCCTGAAAAAAAGGAG 0.408 Ovarian(28;486 876 30334 44033) NA 17 55 --- --- --- --- NA NA NA NA NA RYR2 6262 broad.mit.edu 37 1 237972262 237972263 + Frame_Shift_Ins INS - - T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:237972262_237972263insT uc001hyl.1 + 100 14480_14481 c.14360_14361insT c.(14359-14361)AATfs p.N4787fs RYR2_uc010pyb.1_Frame_Shift_Ins_p.N220fs NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4787 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTGGCATTCAATTTTTTCCGAA 0.356 NA 7 336 --- --- --- --- NA NA NA NA NA SLC5A12 159963 broad.mit.edu 37 11 26725075 26725076 + Splice_Site INS - - A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:26725075_26725076insA uc001mra.2 - 6 1134 c.821_splice c.e6+1 p.L274_splice SLC5A12_uc001mrb.2_Splice_Site|SLC5A12_uc001mrc.3_Splice_Site_p.L274_splice NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 ACTGAGAACTTACAGCTTAGCA 0.327 NA 39 63 --- --- --- --- NA NA NA NA NA MLL 4297 broad.mit.edu 37 11 118363894 118363894 + Frame_Shift_Del DEL A A - TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:118363894delA uc001pta.2 + 16 5141 c.5118delA c.(5116-5118)TTAfs p.L1706fs MLL_uc001ptb.2_Frame_Shift_Del_p.L1709fs NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1706 Bromo; divergent. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGCAGCCTTTAGATCTAGAAG 0.478 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 33 58 --- --- --- --- NA NA NA NA NA ADAM6 8755 broad.mit.edu 37 14 106774086 106774087 + Splice_Site INS - - AGTAATACACGGCA TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:106774086_106774087insAGTAATACACGGCA uc010tyt.1 - 430 c.15674_splice c.e430+1 Parts of antibodies, mostly variable regions. 0 GCCTCTTGCACGTGTCCTCAGC 0.55 NA 4 7 --- --- --- --- NA NA NA NA NA RANGRF 29098 broad.mit.edu 37 17 8192632 8192661 + In_Frame_Del DEL CTGTTCAGCCTCTCAGTTTGGAGAACCTGG CTGTTCAGCCTCTCAGTTTGGAGAACCTGG - rs138959557 byFrequency TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 CTGTTCAGCCTCTCAGTTTGGAGAACCTGG CTGTTCAGCCTCTCAGTTTGGAGAACCTGG - - CTGTTCAGCCTCTCAGTTTGGAGAACCTGG CTGTTCAGCCTCTCAGTTTGGAGAACCTGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:8192632_8192661delCTGTTCAGCCTCTCAGTTTGGAGAACCTGG uc002gkv.2 + 3 369_398 c.251_280delCTGTTCAGCCTCTCAGTTTGGAGAACCTGG c.(250-282)TCTGTTCAGCCTCTCAGTTTGGAGAACCTGGCC>TCC p.VQPLSLENLA85del SLC25A35_uc002gku.1_3'UTR|SLC25A35_uc002gkt.2_Intron|RANGRF_uc002gkw.2_In_Frame_Del_p.VQPLSLENLA85del|RANGRF_uc002gky.2_In_Frame_Del_p.VQPLSLENLA85del|RANGRF_uc002gkx.2_In_Frame_Del_p.VQPLSLENLA85del|SLC25A35_uc002gkz.1_RNA NM_016492 NP_057576 Q9HD47 MOG1_HUMAN RAN guanine nucleotide release factor 85_94 ALR -> PE (in Ref. 3; AAF36156). protein transport cytoplasm|nucleus guanyl-nucleotide exchange factor activity 0 CATGTGGAGTCTGTTCAGCCTCTCAGTTTGGAGAACCTGGCCCTGAGGGG 0.591 NA 10 76 --- --- --- --- NA NA NA NA NA ERBB2 2064 broad.mit.edu 37 17 37880981 37880982 + In_Frame_Ins INS - - GCATACGTGATG TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:37880981_37880982insGCATACGTGATG uc002hso.2 + 20 2548_2549 c.2310_2311insGCATACGTGATG c.(2308-2313)insGCATACGTGATG p.774_775insAYVM ERBB2_uc002hsm.2_In_Frame_Ins_p.744_745insAYVM|ERBB2_uc010cwa.2_In_Frame_Ins_p.759_760insAYVM|ERBB2_uc002hsp.2_In_Frame_Ins_p.577_578insAYVM|ERBB2_uc010cwb.2_In_Frame_Ins_p.774_775insAYVM|ERBB2_uc010wek.1_In_Frame_Ins_p.498_499insAYVM NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 774_775 Cytoplasmic (Potential).|Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.M774_A775insAYVM(24) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GTCCCCAGGAAGCATACGTGAT 0.594 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 11 72 --- --- --- --- NA NA NA NA NA NFKBIZ 64332 broad.mit.edu 37 3 101571949 101571950 + Frame_Shift_Ins INS - - C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:101571949_101571950insC uc003dvp.2 + 5 694_695 c.579_580insC c.(577-582)ACACCAfs p.T193fs NFKBIZ_uc003dvo.2_Frame_Shift_Ins_p.T93fs|NFKBIZ_uc010hpo.2_Frame_Shift_Ins_p.T93fs|NFKBIZ_uc003dvq.2_Frame_Shift_Ins_p.T193fs NM_031419 NP_113607 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene 193_194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(2) 2 CACCTCAAACACCAACGCCCGG 0.421 NA 23 16 --- --- --- --- NA NA NA NA NA UBQLN1 29979 broad.mit.edu 37 9 86279969 86279970 + Frame_Shift_Ins INS - - T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr9:86279969_86279970insT uc004amv.2 - 9 1997_1998 c.1423_1424insA c.(1423-1425)ACGfs p.T475fs UBQLN1_uc004amw.2_Frame_Shift_Ins_p.T447fs NM_013438 NP_038466 Q9UMX0 UBQL1_HUMAN ubiquilin 1 isoform 1 475 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding 0 CGGGGCTTCCGTTGCTAATGTC 0.421 Melanoma(186;1284 2073 12755 14558 18426) NA 13 15 --- --- --- --- NA NA NA NA NA