Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut SKI 6497 broad.mit.edu 37 1 2160913 2160913 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:2160913C>T uc001aja.3 + 1 780 c.708C>T c.(706-708)CTC>CTT p.L236L NM_003036 NP_003027 P12755 SKI_HUMAN v-ski sarcoma viral oncogene homolog 236 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) TGCCCGAGCTCTACAGCAGCC 0.682 NA 10 17 0 0 0 0 KIF1B 23095 broad.mit.edu 37 1 10384836 10384836 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:10384836G>A uc001aqx.3 + 26 2760 c.2558G>A c.(2557-2559)CGA>CAA p.R853Q KIF1B_uc001aqw.3_Missense_Mutation_p.R807Q|KIF1B_uc001aqy.2_Missense_Mutation_p.R827Q|KIF1B_uc001aqz.2_Missense_Mutation_p.R853Q|KIF1B_uc001ara.2_Missense_Mutation_p.R813Q|KIF1B_uc001arb.2_Missense_Mutation_p.R839Q NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 853 Potential. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.C853F(1) ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GATTTGATGCGAGAGATGTAT 0.463 NA 20 53 0 0 0 0 FAM46B 115572 broad.mit.edu 37 1 27332876 27332876 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:27332876G>A uc010ofj.1 - 2 1009 c.837C>T c.(835-837)CTC>CTT p.L279L NM_052943 NP_443175 Q96A09 FA46B_HUMAN hypothetical protein LOC115572 279 central_nervous_system(1) 1 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) AGTACTTGAGGAGGCCACCAC 0.677 NA 9 18 0 0 0 0 NCDN 23154 broad.mit.edu 37 1 36031042 36031042 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:36031042C>T uc001bza.2 + 8 2095 c.1968C>T c.(1966-1968)CCC>CCT p.P656P NCDN_uc001bzb.2_Silent_p.P656P|NCDN_uc001bzc.2_Silent_p.P639P NM_001014839 NP_001014839 Q9UBB6 NCDN_HUMAN neurochondrin isoform 1 656 neuron projection development cytosol|dendrite|neuronal cell body large_intestine(2)|pancreas(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGCTGGCCCCCGCTGCCCTGC 0.682 NA 11 20 0 0 0 0 ELAVL4 1996 broad.mit.edu 37 1 50610702 50610702 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:50610702A>G uc001csb.2 + 2 351 c.83A>G c.(82-84)AAC>AGC p.N28S ELAVL4_uc001cry.3_Missense_Mutation_p.N31S|ELAVL4_uc001crz.3_Missense_Mutation_p.N28S|ELAVL4_uc001csa.3_Missense_Mutation_p.N45S|ELAVL4_uc001csc.3_Missense_Mutation_p.N28S|ELAVL4_uc009vyu.2_Missense_Mutation_p.N33S|ELAVL4_uc010omz.1_Missense_Mutation_p.N33S NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 28 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 TCCAGCAACAACAGAAACTGT 0.418 NA 12 25 0 0 0 0 FGGY 55277 broad.mit.edu 37 1 59812064 59812064 + Silent SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:59812064G>C uc001czi.3 + 4 671 c.459G>C c.(457-459)CTG>CTC p.L153L FGGY_uc001czg.2_Silent_p.L41L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.L153L|FGGY_uc001czj.3_Silent_p.L153L|FGGY_uc001czk.3_Silent_p.L41L|FGGY_uc001czl.3_Intron NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 153 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) TTCTGTGGCTGAAAGAGGTGA 0.498 NA 9 19 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66101886 66101886 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:66101886G>C uc001dci.2 + 20 2888 c.2686G>C c.(2686-2688)GAG>CAG p.E896Q LEPR_uc009waq.2_Missense_Mutation_p.L169F NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 896 Cytoplasmic (Potential).|Required for JAK2 activation (By similarity). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGAAACGTTTGAGCATCTTTT 0.348 NA 29 95 0 0 0 0 HSD3B1 3283 broad.mit.edu 37 1 120057080 120057080 + Nonsense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:120057080C>T uc001ehv.1 + 4 1079 c.934C>T c.(934-936)CGA>TGA p.R312* HSD3B1_uc001ehw.2_Nonsense_Mutation_p.R314* NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 312 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TTACACCTATCGACCGCCCTT 0.473 NA 40 118 0 0 0 0 ZNF697 90874 broad.mit.edu 37 1 120165638 120165638 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:120165638C>T uc001ehy.1 - 3 1442 c.1328G>A c.(1327-1329)GGG>GAG p.G443E NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 443 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GAAGCCCTTCCCGCACTCGCG 0.667 NA 3 6 0 0 0 0 SETDB1 9869 broad.mit.edu 37 1 150900253 150900253 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:150900253G>A uc001evu.2 + 2 253 c.63G>A c.(61-63)GAG>GAA p.E21E SETDB1_uc009wmf.2_Silent_p.E21E|SETDB1_uc001evv.2_Silent_p.E21E|SETDB1_uc001evw.3_Silent_p.E21E|SETDB1_uc009wmg.1_Silent_p.E21E NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 21 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 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;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTCTGAAGAGATTGCAGAGC 0.463 NA 17 92 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152279854 152279854 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:152279854G>A uc001ezu.1 - 3 7544 c.7508C>T c.(7507-7509)GCC>GTC p.A2503V NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2503 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) CCCATGGGAGGCATCAGACCT 0.547 NA Ichthyosis 183 353 0 0 0 0 OR10R2 343406 broad.mit.edu 37 1 158450344 158450344 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:158450344T>C uc010pik.1 + 1 677 c.677T>C c.(676-678)GTA>GCA p.V226A uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 226 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) GGAGTTCTTGTACTTGTGGTT 0.413 NA 26 87 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564443 176564443 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:176564443G>A uc001gkz.2 + 3 2867 c.1703G>A c.(1702-1704)AGC>AAC p.S568N PAPPA2_uc001gky.1_Missense_Mutation_p.S568N|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 568 Metalloprotease. S -> N (in Ref. 2; AAL17780). cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGGCAGCTGAGCGTCCACCAG 0.567 NA 21 81 0 0 0 0 CEP350 9857 broad.mit.edu 37 1 179989427 179989427 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:179989427G>C uc001gnt.2 + 12 2901 c.2518G>C c.(2518-2520)GAA>CAA p.E840Q CEP350_uc009wxl.2_Missense_Mutation_p.E839Q|CEP350_uc001gnu.2_Missense_Mutation_p.E674Q NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 840 centrosome|nucleus|spindle ovary(4) 4 CAGCAGAATTGAAAGTGAAGC 0.448 NA 57 169 0 0 0 0 ACBD6 84320 broad.mit.edu 37 1 180471273 180471273 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:180471273G>A uc001gog.2 - 1 750 c.129C>T c.(127-129)GCC>GCT p.A43A NM_032360 NP_115736 Q9BR61 ACBD6_HUMAN acyl-coenzyme A binding domain containing 6 43 ACB. cytoplasm|nucleus fatty-acyl-CoA binding ovary(1) 1 CAAACAGCTCGGCCAGGCAAC 0.612 NA 9 33 0 0 0 0 GLT25D2 23127 broad.mit.edu 37 1 183938459 183938459 + Missense_Mutation SNP T T G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:183938459T>G uc001gqr.2 - 5 1148 c.776A>C c.(775-777)GAC>GCC p.D259A GLT25D2_uc010poj.1_Missense_Mutation_p.D259A|GLT25D2_uc001gqs.2_Missense_Mutation_p.D139A NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 259 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 CCAGGTGTAGTCCTGGTGTGG 0.537 NA 24 71 0 0 0 0 F13B 2165 broad.mit.edu 37 1 197024886 197024886 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:197024886C>T uc001gtt.1 - 8 1357 c.1313G>A c.(1312-1314)CGT>CAT p.R438H NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 438 Sushi 7. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TTGTTCGCAACGAGATATTTT 0.413 NA 11 53 0 0 0 0 CNTN2 6900 broad.mit.edu 37 1 205039107 205039107 + Silent SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:205039107C>A uc001hbr.2 + 18 2618 c.2349C>A c.(2347-2349)CCC>CCA p.P783P CNTN2_uc001hbq.1_Silent_p.P674P|CNTN2_uc001hbs.2_Silent_p.P571P NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 783 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCTACACGCCCTTTGAGGTCA 0.667 NA 21 82 1.5e-11 1.69e-11 1 0 RPS6KC1 26750 broad.mit.edu 37 1 213277818 213277818 + Silent SNP C C A rs56056039 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:213277818C>A uc010ptr.1 + 4 444 c.285C>A c.(283-285)ATC>ATA p.I95I RPS6KC1_uc001hkd.2_Silent_p.I83I|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_5'UTR|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_5'UTR NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 95 PX. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAACTGTTATCGAAGAGAGAA 0.373 NA 8 50 3.1e-07 3.45e-07 1 0 LIN9 286826 broad.mit.edu 37 1 226421074 226421074 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:226421074T>C uc001hqa.2 - 13 1754 c.1444A>G c.(1444-1446)AGG>GGG p.R482G LIN9_uc001hqb.2_Missense_Mutation_p.R447G|LIN9_uc001hqc.2_Missense_Mutation_p.R414G|LIN9_uc009xel.1_Missense_Mutation_p.R447G NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 466 cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GCTGTAAGCCTGGAAATTAAG 0.368 NA 3 146 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228495827 228495827 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:228495827T>C uc009xez.1 + 47 12526 c.12482T>C c.(12481-12483)ATT>ACT p.I4161T OBSCN_uc001hsn.2_Missense_Mutation_p.I4161T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4161 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GAGGTGACCATTGTACGGGGG 0.612 NA 14 68 0 0 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394516 233394516 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:233394516G>A uc001hvl.2 - 5 1327 c.1092C>T c.(1090-1092)CCC>CCT p.P364P PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 364 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GTGGGTCTCCGGGTTGAGAAG 0.517 NA 29 119 0 0 0 0 IRF2BP2 359948 broad.mit.edu 37 1 234745081 234745081 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:234745081C>A uc001hwg.2 - 1 191 c.160G>T c.(160-162)GAG>TAG p.E54* IRF2BP2_uc009xfw.2_5'Flank|IRF2BP2_uc001hwf.2_Nonsense_Mutation_p.E54* NM_182972 NP_892017 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CGCGCCGTCTCGATGACGAAC 0.746 NA 4 5 0.00116845 0.00125847 1 0 RBM34 23029 broad.mit.edu 37 1 235295270 235295270 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:235295270C>G uc001hwn.2 - 11 1081 c.1051G>C c.(1051-1053)GAA>CAA p.E351Q RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 351 RRM 2. nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) CCCATGAGTTCAGAATTATTT 0.318 NA 12 43 0 0 0 0 KIF26B 55083 broad.mit.edu 37 1 245772637 245772637 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:245772637C>G uc001ibf.1 + 8 2161 c.1721C>G c.(1720-1722)TCT>TGT p.S574C KIF26B_uc010pyq.1_Missense_Mutation_p.S574C|KIF26B_uc001ibg.1_Missense_Mutation_p.S192C NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 574 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TGTGCCATCTCTTGGCTCTTC 0.537 NA 5 12 0 0 0 0 PFKP 5214 broad.mit.edu 37 10 3178029 3178029 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:3178029G>C uc001igp.2 + 21 2260 c.2224G>C c.(2224-2226)GAG>CAG p.E742Q PFKP_uc001igq.2_Missense_Mutation_p.E734Q|PFKP_uc009xhr.2_Missense_Mutation_p.E704Q|PFKP_uc009xht.2_Missense_Mutation_p.E480Q|PFKP_uc009xhu.2_Missense_Mutation_p.E248Q NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 742 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AACGGATTTTGAGTAAGTTGG 0.453 NA 6 23 0 0 0 0 YME1L1 10730 broad.mit.edu 37 10 27423860 27423860 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:27423860G>A uc001iti.2 - 7 944 c.762C>T c.(760-762)CTC>CTT p.L254L YME1L1_uc001itj.2_Silent_p.L197L|YME1L1_uc010qdl.1_Silent_p.L164L|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 254 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 TGGTTTTCATGAGTTTGTCCA 0.393 NA 14 37 0 0 0 0 NRG3 10718 broad.mit.edu 37 10 84745207 84745207 + Missense_Mutation SNP G G T rs150401464 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:84745207G>T uc001kco.2 + 9 1964 c.1937G>T c.(1936-1938)CGG>CTG p.R646L NRG3_uc010qlz.1_Missense_Mutation_p.R645L|NRG3_uc001kcp.2_Missense_Mutation_p.R449L|NRG3_uc001kcq.2_Missense_Mutation_p.R296L|NRG3_uc001kcr.2_Missense_Mutation_p.R320L NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 670 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GATGCCAGACGGTCAGAAGAC 0.483 NA 15 29 2.32e-09 2.61e-09 1 0 PLCE1 51196 broad.mit.edu 37 10 95791019 95791019 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:95791019T>C uc001kjk.2 + 2 850 c.216T>C c.(214-216)ATT>ATC p.I72I PLCE1_uc010qnx.1_Silent_p.I72I NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 72 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TGCCAAAGATTCTCTCAATAG 0.393 NA 14 29 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95791437 95791437 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:95791437G>T uc001kjk.2 + 2 1268 c.634G>T c.(634-636)GAT>TAT p.D212Y PLCE1_uc010qnx.1_Missense_Mutation_p.D212Y NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 212 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) AATTTTAGACGATTGTGGAAA 0.388 NA 16 45 1.63e-17 1.86e-17 1 0 PLCE1 51196 broad.mit.edu 37 10 95791784 95791784 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:95791784G>C uc001kjk.2 + 2 1615 c.981G>C c.(979-981)AGG>AGC p.R327S PLCE1_uc010qnx.1_Missense_Mutation_p.R327S NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 327 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TGTTAGTCAGGAGATTCTGTA 0.403 NA 13 60 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95791831 95791831 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:95791831G>C uc001kjk.2 + 2 1662 c.1028G>C c.(1027-1029)GGA>GCA p.G343A PLCE1_uc010qnx.1_Missense_Mutation_p.G343A NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 343 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GTGTATACTGGAACAAGAGCA 0.423 NA 9 39 0 0 0 0 APBB1 322 broad.mit.edu 37 11 6431880 6431880 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:6431880G>C uc001mdb.1 - 2 798 c.698C>G c.(697-699)TCC>TGC p.S233C APBB1_uc001mdc.1_Missense_Mutation_p.S233C|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 233 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGAGCCATAGGAGGGGCTGCC 0.592 NA 11 50 0 0 0 0 ST5 6764 broad.mit.edu 37 11 8736175 8736175 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:8736175C>T uc001mgt.2 - 7 2110 c.1924G>A c.(1924-1926)GAA>AAA p.E642K ST5_uc009yfr.2_Missense_Mutation_p.E222K|ST5_uc001mgu.2_Missense_Mutation_p.E222K|ST5_uc001mgv.2_Missense_Mutation_p.E642K|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.E155K NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 642 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GATGCTGTTTCAATGCTGGAC 0.468 NA 6 27 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17418492 17418492 + Missense_Mutation SNP C C G rs138642224 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:17418492C>G uc001mnc.2 - 33 4216 c.4090G>C c.(4090-4092)GTC>CTC p.V1364L NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1364 Cytoplasmic (By similarity).|ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGCATTGACGTGCTTCAGC 0.612 NA 11 46 0 0 0 0 LDHC 3948 broad.mit.edu 37 11 18456337 18456337 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:18456337C>T uc001mon.3 + 5 581 c.469C>T c.(469-471)CGT>TGT p.R157C LDHC_uc001mom.3_Missense_Mutation_p.R157C|LDHC_uc009yhp.2_Missense_Mutation_p.R157C|LDHC_uc001moo.3_Missense_Mutation_p.R41C|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Missense_Mutation_p.R41C NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 157 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) ACCTGTAACTCGTGTAATTGG 0.368 NA 40 75 0 0 0 0 BDNF 627 broad.mit.edu 37 11 27679532 27679532 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:27679532C>T uc010rdu.1 - 2 1431 c.580G>A c.(580-582)GAA>AAA p.E194K BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.E194K|BDNF_uc001mrt.2_Missense_Mutation_p.E209K|BDNF_uc010rdw.1_Missense_Mutation_p.E194K|BDNF_uc009yjd.2_Missense_Mutation_p.E194K|BDNF_uc001mru.2_Missense_Mutation_p.E194K|BDNF_uc010rdx.1_Missense_Mutation_p.E194K|BDNF_uc010rdy.1_Missense_Mutation_p.E194K|BDNF_uc009yjg.2_Missense_Mutation_p.E194K|BDNF_uc009yje.2_Missense_Mutation_p.E276K|BDNF_uc009yjf.2_Missense_Mutation_p.E223K|BDNF_uc001mrv.2_Missense_Mutation_p.E194K|BDNF_uc001mrw.3_Missense_Mutation_p.E194K|BDNF_uc001mrx.2_Missense_Mutation_p.E194K|BDNF_uc001mry.3_Missense_Mutation_p.E194K|BDNF_uc001mrz.3_Missense_Mutation_p.E194K|BDNF_uc001msa.2_Missense_Mutation_p.E202K NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 194 extracellular region growth factor activity 0 CTGCAGCCTTCTTTTGTGTAA 0.512 NA 38 108 0 0 0 0 ELP4 26610 broad.mit.edu 37 11 31531473 31531473 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:31531473T>C uc001mtb.2 + 1 177 c.142T>C c.(142-144)TCC>CCC p.S48P IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.S48P|ELP4_uc010rdz.1_Missense_Mutation_p.S48P|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 48 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) TCGACTGGTGTCCATTGCGGG 0.627 NA 27 59 0 0 0 0 PRR5L 79899 broad.mit.edu 37 11 36472865 36472865 + Nonsense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:36472865C>G uc001mwo.3 + 8 1081 c.692C>G c.(691-693)TCA>TGA p.S231* PRR5L_uc001mwp.2_Nonsense_Mutation_p.S231*|PRR5L_uc009ykk.2_Nonsense_Mutation_p.S103*|PRR5L_uc010rfc.1_Intron NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 231 ovary(1) 1 CGTAGCTTCTCAGGCCCCACG 0.537 NA 13 37 0 0 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45926322 45926322 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:45926322C>G uc001nbr.2 + 9 2000 c.1830C>G c.(1828-1830)GTC>GTG p.V610V NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 610 PID. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) CCAGCTGTGTCCTGGAGATCA 0.607 NA 28 86 0 0 0 0 FOLH1 2346 broad.mit.edu 37 11 49229949 49229949 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:49229949G>A uc001ngy.2 - 1 274 c.13C>T c.(13-15)CTT>TTT p.L5F FOLH1_uc001ngz.2_Missense_Mutation_p.L5F|FOLH1_uc009yly.2_5'UTR|FOLH1_uc009ylz.2_5'UTR|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_5'UTR NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 5 Cytoplasmic (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTTTCGTGAAGGAGATTCCAC 0.701 NA 3 9 0 0 0 0 TCN1 6947 broad.mit.edu 37 11 59631479 59631479 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:59631479C>T uc001noj.2 - 2 258 c.160G>A c.(160-162)GCT>ACT p.A54T NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 54 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACATTGACAGCGCTGGTTCCC 0.418 NA 45 150 0 0 0 0 CPSF7 79869 broad.mit.edu 37 11 61188974 61188974 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:61188974G>C uc001nrq.2 - 3 295 c.161C>G c.(160-162)CCT>CGT p.P54R CPSF7_uc001nro.2_Missense_Mutation_p.P54R|CPSF7_uc001nrp.2_Missense_Mutation_p.P97R|CPSF7_uc001nrr.2_Missense_Mutation_p.P54R|CPSF7_uc001nrs.1_5'UTR|CPSF7_uc009ynp.2_Missense_Mutation_p.P54R NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 54 Poly-Pro. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 CTGGCGAACAGGAGGAGGTGG 0.522 NA 19 79 0 0 0 0 VEGFB 7423 broad.mit.edu 37 11 64005048 64005048 + Silent SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:64005048A>C uc001nyw.2 + 6 607 c.567A>C c.(565-567)GGA>GGC p.G189G VEGFB_uc001nyx.2_Missense_Mutation_p.T156P NM_003377 NP_003368 P49765 VEGFB_HUMAN vascular endothelial growth factor B precursor 189 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding 0 TGACCCCCGGACCTGCCGCTG 0.711 NA 5 6 0 0 0 0 PYGM 5837 broad.mit.edu 37 11 64525340 64525340 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:64525340C>G uc001oax.3 - 5 1388 c.571G>C c.(571-573)GAG>CAG p.E191Q PYGM_uc001oay.3_Missense_Mutation_p.E103Q NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 191 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CGGGCCTTCTCCCAGGGGTTG 0.607 NA 18 25 0 0 0 0 SPTBN2 6712 broad.mit.edu 37 11 66488701 66488701 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:66488701G>A uc001ojd.2 - 2 83 c.11C>T c.(10-12)ACG>ATG p.T4M NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 4 Actin-binding. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GGGTGACAGCGTGCTGCTCAT 0.602 NA 20 125 0 0 0 0 SSH3 54961 broad.mit.edu 37 11 67077772 67077772 + Nonsense_Mutation SNP G G T rs148598265 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:67077772G>T uc001okj.2 + 13 1823 c.1645G>T c.(1645-1647)GAG>TAG p.E549* SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Nonsense_Mutation_p.E403* NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 549 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCCCTCCTTGGAGCTGGAGAG 0.632 NA 13 188 4.38e-07 4.87e-07 1 0 PITPNM1 9600 broad.mit.edu 37 11 67267280 67267280 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:67267280T>C uc001olx.2 - 7 1274 c.1085A>G c.(1084-1086)GAG>GGG p.E362G PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.E362G|PITPNM1_uc001olz.2_Missense_Mutation_p.E362G NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 362 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 GGGGAAGACCTCCTCACTGTC 0.592 NA 10 121 0 0 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816564 67816564 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:67816564C>T uc001one.2 + 15 1798 c.1690C>T c.(1690-1692)CAC>TAC p.H564Y TCIRG1_uc001ong.2_Missense_Mutation_p.H348Y|TCIRG1_uc001onh.2_Missense_Mutation_p.H266Y|TCIRG1_uc001oni.2_Missense_Mutation_p.H68Y|TCIRG1_uc009ysd.2_5'Flank NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 564 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 TGGCCAGAGGCACCGGCTGCT 0.657 NA 23 238 0 0 0 0 NCAPD3 23310 broad.mit.edu 37 11 134072795 134072795 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:134072795A>G uc001qhd.1 - 13 2137 c.1531T>C c.(1531-1533)TCC>CCC p.S511P NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 511 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CTTTGGTAGGAAAAAGCTTTA 0.348 NA 16 16 0 0 0 0 GDF3 9573 broad.mit.edu 37 12 7842822 7842822 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:7842822C>G uc001qte.2 - 2 783 c.747G>C c.(745-747)AGG>AGC p.R249S NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 249 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 TGGCTGCTCTCCTTTTCCGAG 0.537 NA 20 59 0 0 0 0 SLC2A14 144195 broad.mit.edu 37 12 7980270 7980270 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:7980270G>A uc001qtk.2 - 12 1547 c.754C>T c.(754-756)CGG>TGG p.R252W SLC2A14_uc001qtl.2_Missense_Mutation_p.R229W|SLC2A14_uc001qtm.2_Missense_Mutation_p.R229W|SLC2A14_uc010sgg.1_Missense_Mutation_p.R143W|SLC2A14_uc001qtn.2_Missense_Mutation_p.R252W|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.R267W NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 252 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) CCCCACAACCGCTGGAGGACT 0.507 NA 7 46 0 0 0 0 SLC2A3 6515 broad.mit.edu 37 12 8082459 8082459 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:8082459G>A uc001qtr.2 - 6 944 c.682C>T c.(682-684)CGG>TGG p.R228W SLC2A3_uc001qts.2_3'UTR NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 228 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) CCCCACAACCGCTGGAGGACT 0.498 NA 12 89 0 0 0 0 TAS2R20 259295 broad.mit.edu 37 12 11150362 11150362 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:11150362C>T uc001qzm.2 - 1 113 c.113G>A c.(112-114)AGA>AAA p.R38K PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176889 NP_795370 P59543 T2R20_HUMAN taste receptor, type 2, member 20 38 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 GATCTTTTGTCTCTTGACCCA 0.378 NA 23 46 0 0 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183044 11183044 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:11183044C>G uc001qzo.1 - 1 963 c.891G>C c.(889-891)GTG>GTC p.V297V PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN taste receptor, type 2, member 31 297 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 CCCAGTACCTCACTTGCCGCA 0.428 NA 48 182 0 0 0 0 PLCZ1 89869 broad.mit.edu 37 12 18889205 18889205 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:18889205C>G uc010sid.1 - 3 276 c.85G>C c.(85-87)GAA>CAA p.E29Q PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_5'UTR|CAPZA3_uc001rdy.2_5'Flank NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 29 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TCTAATTTTTCAAGTAACCTC 0.353 NA 8 26 0 0 0 0 SENP1 29843 broad.mit.edu 37 12 48477537 48477537 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:48477537G>C uc001rqx.2 - 6 835 c.389C>G c.(388-390)TCA>TGA p.S130* SENP1_uc001rqw.2_Nonsense_Mutation_p.S130*|SENP1_uc001rqy.2_Translation_Start_Site|SENP1_uc001rqz.2_Translation_Start_Site|SENP1_uc009zkx.2_Nonsense_Mutation_p.S130* NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 130 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AAAACTGTTTGATAATCCACT 0.313 NA 10 37 0 0 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54975892 54975892 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:54975892G>A uc001sgg.2 - 5 442 c.271C>T c.(271-273)CAC>TAC p.H91Y NM_006741 NP_006732 Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) 91 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity 0 TGCCCCAGGTGATGTTCAACC 0.592 NA 12 27 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57538855 57538855 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:57538855G>A uc001snd.2 + 5 1015 c.549G>A c.(547-549)CCG>CCA p.P183P LRP1_uc010sre.1_Silent_p.P183P|LRP1_uc001snb.2_Silent_p.P183P|LRP1_uc001snc.1_Silent_p.P183P NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 183 EGF-like 2; calcium-binding (Potential).|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCCTGCAGCCGGATAACCGCT 0.572 NA 17 31 0 0 0 0 GRIP1 23426 broad.mit.edu 37 12 66990676 66990676 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:66990676C>T uc001stk.2 - 2 328 c.87G>A c.(85-87)CAG>CAA p.Q29Q GRIP1_uc010sta.1_Intron|GRIP1_uc001stm.2_Silent_p.Q29Q NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 29 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GCGGCTTTGTCTGGCTGGCGG 0.448 NA 19 62 0 0 0 0 TMCC3 57458 broad.mit.edu 37 12 94975422 94975422 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:94975422T>A uc001tdj.2 - 2 1089 c.971A>T c.(970-972)CAG>CTG p.Q324L TMCC3_uc001tdi.2_Missense_Mutation_p.Q293L NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 324 Potential. integral to membrane ovary(1)|skin(1) 2 TTGCAGGGTCTGAGAAATAAA 0.348 NA 15 50 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109673414 109673414 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:109673414G>C uc001tob.2 + 33 4527 c.4408G>C c.(4408-4410)GAA>CAA p.E1470Q ACACB_uc001toc.2_Missense_Mutation_p.E1470Q|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E136Q NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1470 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TTTGCAGAAAGAATTTCCCAA 0.328 NA 12 20 0 0 0 0 DTX1 1840 broad.mit.edu 37 12 113496163 113496163 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:113496163G>A uc001tuk.1 + 1 502 c.166G>A c.(166-168)GCT>ACT p.A56T NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 56 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GAAGGAGGACGCTCGCGGTTC 0.647 NA 35 89 0 0 0 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013807 117013807 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:117013807C>G uc009zwk.1 + 2 214 c.60C>G c.(58-60)GTC>GTG p.V20V NM_001085481 NP_001078950 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 20 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule 0 TAGAAGATGTCCGACTTATTC 0.537 NA 17 96 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124333280 124333280 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:124333280G>A uc001uft.3 + 33 5624 c.5599G>A c.(5599-5601)GTG>ATG p.V1867M NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1867 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTCCTAGGCCGTGGGGAAGAT 0.443 NA 4 25 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23913048 23913048 + Missense_Mutation SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr13:23913048A>C uc001uon.2 - 10 5556 c.4967T>G c.(4966-4968)GTG>GGG p.V1656G SACS_uc001uoo.2_Missense_Mutation_p.V1509G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1656 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTTCACTCACTTTTGCTTC 0.398 NA 16 41 0 0 0 0 KL 9365 broad.mit.edu 37 13 33590903 33590903 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr13:33590903C>G uc001uus.2 + 1 333 c.325C>G c.(325-327)CTG>GTG p.L109V KL_uc001uur.1_Intron NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 109 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GAACGCCAGTCTGCCGTTGGG 0.711 NA 4 23 0 0 0 0 FARP1 10160 broad.mit.edu 37 13 99092944 99092944 + Missense_Mutation SNP G G A rs145597966 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr13:99092944G>A uc001vnj.2 + 24 2986 c.2650G>A c.(2650-2652)GCG>ACG p.A884T FARP1_uc001vnh.2_Missense_Mutation_p.A915T NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 884 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGAAGCCACCGCGGCTGACCA 0.627 NA 7 64 0 0 0 0 C13orf39 196541 broad.mit.edu 37 13 103338495 103338495 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr13:103338495G>A uc001vpj.2 - 4 687 c.681C>T c.(679-681)TTC>TTT p.F227F C13orf39_uc001vpk.2_Silent_p.F227F NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN hypothetical protein LOC196541 227 methyltransferase activity 0 AGTCGGTGCTGAACCTGAATT 0.443 NA 12 42 0 0 0 0 COCH 1690 broad.mit.edu 37 14 31348691 31348691 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:31348691G>C uc001wqr.2 + 6 516 c.436G>C c.(436-438)GGT>CGT p.G146R COCH_uc001wqp.2_Missense_Mutation_p.G146R|COCH_uc001wqq.3_Missense_Mutation_p.G146R|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 146 sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TCCACCAACAGGTATGAACTA 0.383 NA 9 58 0 0 0 0 NIN 51199 broad.mit.edu 37 14 51224285 51224285 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:51224285G>A uc001wym.2 - 18 3654 c.3463C>T c.(3463-3465)CTG>TTG p.L1155L NIN_uc001wyi.2_Silent_p.L1155L|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Silent_p.L1161L|NIN_uc001wyo.2_Silent_p.L1155L NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1155 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GTACTTCCCAGGTCCCGGACC 0.478 NA T PDGFRB MPD 23 208 0 0 0 0 SIX6 4990 broad.mit.edu 37 14 60976681 60976681 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:60976681A>T uc001xfa.3 + 1 744 c.565A>T c.(565-567)AAG>TAG p.K189* NM_007374 NP_031400 O95475 SIX6_HUMAN SIX homeobox 6 189 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.088) GGCTGCAGCCAAGAACAGGTC 0.647 NA 6 12 0 0 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055505 72055505 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:72055505G>C uc001xms.2 + 2 1264 c.916G>C c.(916-918)GAA>CAA p.E306Q SIPA1L1_uc001xmt.2_Missense_Mutation_p.E306Q|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E306Q|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E306Q NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 306 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) CAAAGGTGAAGAACTTGGGAA 0.433 NA 13 47 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92461767 92461767 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:92461767G>A uc001xzy.2 - 14 5773 c.4985C>T c.(4984-4986)TCT>TTT p.S1662F TRIP11_uc010auf.1_Missense_Mutation_p.S1398F NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1662 Potential. QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135). transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTGTTCCTGAGAGACAGAAAG 0.458 NA T PDGFRB AML 24 23 0 0 0 0 DLK1 8788 broad.mit.edu 37 14 101201194 101201194 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:101201194G>A uc001yhs.3 + 5 1266 c.1113G>A c.(1111-1113)ATG>ATA p.M371I DLK1_uc001yhu.3_Missense_Mutation_p.M298I NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 371 Cytoplasmic (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) AGATCGACATGACCACCTTCA 0.562 NA 35 97 0 0 0 0 NDN 4692 broad.mit.edu 37 15 23932088 23932088 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:23932088G>A uc001ywk.2 - 1 363 c.277C>T c.(277-279)CCA>TCA p.P93S NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 93 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GCCGGGGCTGGCGGTGCCGGG 0.697 NA Prader-Willi_syndrome 8 31 0 0 0 0 C15orf55 256646 broad.mit.edu 37 15 34649168 34649168 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:34649168G>T uc001zif.2 + 7 3030 c.2875G>T c.(2875-2877)GGG>TGG p.G959W C15orf55_uc010ucc.1_Missense_Mutation_p.G987W|C15orf55_uc010ucd.1_Missense_Mutation_p.G977W NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 959 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TTACACAACTGGGACTCCCAA 0.483 NA T BRD3|BRD4 lethal midline carcinoma 15 26 4.93e-13 5.58e-13 1 0 USP8 9101 broad.mit.edu 37 15 50774167 50774167 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:50774167G>C uc001zym.3 + 12 2208 c.1708G>C c.(1708-1710)GAT>CAT p.D570H USP8_uc001zyk.1_Missense_Mutation_p.D271H|USP8_uc001zyl.3_Missense_Mutation_p.D570H|USP8_uc001zyn.3_Missense_Mutation_p.D570H|USP8_uc010ufh.1_Missense_Mutation_p.D493H|USP8_uc010bev.1_Missense_Mutation_p.D199H NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 570 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) ATCTGTAGAAGATAGGGGGAA 0.313 NA 10 29 0 0 0 0 USP8 9101 broad.mit.edu 37 15 50791262 50791262 + Nonsense_Mutation SNP C C T rs142928952 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:50791262C>T uc001zym.3 + 21 3834 c.3334C>T c.(3334-3336)CGA>TGA p.R1112* USP8_uc001zyl.3_Nonsense_Mutation_p.R1112*|USP8_uc001zyn.3_Nonsense_Mutation_p.R1112*|USP8_uc010ufh.1_Nonsense_Mutation_p.R1006*|USP8_uc001zyp.3_Nonsense_Mutation_p.R279* NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1112 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) ATTGGGACCACGAGTAACTGA 0.368 NA 12 33 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54916087 54916087 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:54916087G>T uc002ack.2 + 30 6294 c.6294G>T c.(6292-6294)AAG>AAT p.K2098N UNC13C_uc002acm.2_Missense_Mutation_p.K19N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2098 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGACAAGAAGAGAAAACAAG 0.403 NA 19 45 8.28e-16 9.42e-16 1 0 NEDD4 4734 broad.mit.edu 37 15 56207863 56207863 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:56207863G>A uc002adj.2 - 1 1467 c.1167C>T c.(1165-1167)GAC>GAT p.D389D NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Silent_p.D389D|NEDD4_uc010ugj.1_Silent_p.D389D|NEDD4_uc010bfm.2_Silent_p.D389D|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 389 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TTGTTTCACAGTCTAATGTAG 0.363 NA 17 38 0 0 0 0 CCDC33 80125 broad.mit.edu 37 15 74559050 74559050 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:74559050G>A uc002axo.2 + 4 745 c.351G>A c.(349-351)AAG>AAA p.K117K CCDC33_uc002axp.2_5'UTR NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 320 C2. protein binding ovary(3)|skin(2) 5 ACAACAGAAAGAAACAGGAGT 0.473 NA 29 107 0 0 0 0 C15orf27 123591 broad.mit.edu 37 15 76467994 76467994 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:76467994G>A uc002bbq.2 + 8 902 c.747G>A c.(745-747)ACG>ACA p.T249T C15orf27_uc010bkp.2_Silent_p.T65T|C15orf27_uc002bbr.2_Silent_p.T65T NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 249 Potential. integral to membrane 0 AGAGGCTGACGCAGATCTGTC 0.512 NA 14 55 0 0 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79067056 79067056 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:79067056G>A uc002bej.3 - 12 1997 c.1786C>T c.(1786-1788)CGC>TGC p.R596C ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.R596C NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 596 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 AAGGAGGGGCGGCCAGCAGGG 0.632 NA 10 39 0 0 0 0 AP3B2 8120 broad.mit.edu 37 15 83335612 83335612 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:83335612C>T uc010uoh.1 - 15 1916 c.1739G>A c.(1738-1740)CGC>CAC p.R580H AP3B2_uc010uoi.1_Missense_Mutation_p.R580H|AP3B2_uc010uoj.1_Missense_Mutation_p.R548H|AP3B2_uc010uog.1_Missense_Mutation_p.R216H NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 580 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CCGGGTGAAGCGCGCCCGGTC 0.597 NA 17 66 0 0 0 0 TPSD1 23430 broad.mit.edu 37 16 1306640 1306640 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:1306640C>T uc002clb.1 + 2 215 c.206C>T c.(205-207)TCC>TTC p.S69F TPSD1_uc010brm.1_Missense_Mutation_p.S7F NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 69 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TGCGGGGGCTCCCTCATCCAC 0.687 NA 22 57 0 0 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1812845 1812845 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:1812845G>A uc002cmk.2 + 16 1853 c.1733G>A c.(1732-1734)CGC>CAC p.R578H MAPK8IP3_uc002cml.2_Missense_Mutation_p.R572H|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.R579H NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 578 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 AGCTTCAGCCGCCTCTTCAGC 0.677 NA 28 66 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3777767 3777767 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:3777767G>A uc002cvv.2 - 31 7485 c.7281C>T c.(7279-7281)GTC>GTT p.V2427V CREBBP_uc002cvw.2_Silent_p.V2389V NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2427 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGGTGTCCCCGACCAGGGACA 0.562 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 36 131 0 0 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857127 9857127 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:9857127G>C uc002czo.3 - 13 4822 c.4274C>G c.(4273-4275)TCG>TGG p.S1425W GRIN2A_uc010uym.1_Missense_Mutation_p.S1425W|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1425 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.S1425L(1) skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AACATGCTCCGAAATATACAC 0.473 NA 17 34 0 0 0 0 MYH11 4629 broad.mit.edu 37 16 15832485 15832485 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:15832485C>T uc002ddy.2 - 24 3165 c.3058G>A c.(3058-3060)GAA>AAA p.E1020K MYH11_uc002ddv.2_Missense_Mutation_p.E1027K|MYH11_uc002ddw.2_Missense_Mutation_p.E1020K|MYH11_uc002ddx.2_Missense_Mutation_p.E1027K|MYH11_uc010bvg.2_Missense_Mutation_p.E852K NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1020 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TTGGCCTTTTCTTCCTCTTCT 0.358 NA T CBFB AML 12 71 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20981224 20981224 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:20981224G>A uc010vbe.1 - 52 8348 c.8348C>T c.(8347-8349)TCG>TTG p.S2783L DNAH3_uc010vbd.1_Missense_Mutation_p.S218L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2783 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CTTCACCAGCGAGATGTCGGC 0.592 NA 35 86 0 0 0 0 CD19 930 broad.mit.edu 37 16 28948971 28948971 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:28948971G>A uc002drs.2 + 11 1461 c.1399G>A c.(1399-1401)GAG>AAG p.E467K uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.E467K NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 467 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CGAGGATGAAGAGCTGACCCA 0.567 NA 19 35 0 0 0 0 KCTD13 253980 broad.mit.edu 37 16 29918300 29918300 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:29918300C>T uc002duv.2 - 6 1074 c.883G>A c.(883-885)GGG>AGG p.G295R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA NM_178863 NP_849194 Q8WZ19 BACD1_HUMAN potassium channel tetramerisation domain 295 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 TCATCCTCCCCGCGGCCAGCC 0.637 NA 33 80 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51174819 51174819 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:51174819C>T uc010vgs.1 - 2 1345 c.1314G>A c.(1312-1314)GCG>GCA p.A438A SALL1_uc010vgr.1_Silent_p.A341A|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 438 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AAGTACTTTTCGCTTCAAAGG 0.488 NA 33 95 0 0 0 0 CKLF 51192 broad.mit.edu 37 16 66597116 66597116 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:66597116G>A uc002eow.2 + 3 476 c.329G>A c.(328-330)GGA>GAA p.G110E CKLF_uc002eox.1_Missense_Mutation_p.G110E|CKLF_uc002eot.2_Intron|CKLF_uc002eou.2_Missense_Mutation_p.G57E|CKLF_uc002eov.2_Intron NM_016951 NP_058647 Q9UBR5 CKLF_HUMAN chemokine-like factor isoform a 110 Helical; (Potential).|MARVEL. cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell extracellular space|integral to membrane chemokine activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217) ACAGTTGGTGGAGGGGTAAGT 0.368 NA 8 35 0 0 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66766353 66766353 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:66766353G>C uc002eqb.1 - 7 849 c.818C>G c.(817-819)TCA>TGA p.S273* DYNC1LI2_uc010vis.1_Nonsense_Mutation_p.S196*|DYNC1LI2_uc010vit.1_Nonsense_Mutation_p.S273*|DYNC1LI2_uc010viu.1_Nonsense_Mutation_p.S234* NM_006141 NP_006132 O43237 DC1L2_HUMAN dynein, cytoplasmic, light intermediate 273 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|skin(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) TTCTTTCACTGATGTGTAAAT 0.378 NA 11 17 0 0 0 0 SLC12A4 6560 broad.mit.edu 37 16 67979293 67979293 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:67979293C>G uc002euz.2 - 22 3152 c.3011G>C c.(3010-3012)CGG>CCG p.R1004P LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.R998P|SLC12A4_uc010vkh.1_Missense_Mutation_p.R973P|SLC12A4_uc010vki.1_Missense_Mutation_p.R998P|SLC12A4_uc010vkj.1_Missense_Mutation_p.R1006P|SLC12A4_uc002eva.2_Missense_Mutation_p.R1004P NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 1004 Cytoplasmic (Potential). cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACCAGCTCCCGGAAATTGTC 0.572 NA 28 58 0 0 0 0 SLC7A6OS 84138 broad.mit.edu 37 16 68344297 68344297 + Silent SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:68344297A>G uc002evw.1 - 2 431 c.412T>C c.(412-414)TTG>CTG p.L138L PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 138 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) AGGTCTAACAACTGAAAGCCC 0.627 NA 10 12 0 0 0 0 YWHAE 7531 broad.mit.edu 37 17 1303386 1303386 + Missense_Mutation SNP G G C rs11552915 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:1303386G>C uc002fsj.2 - 1 171 c.19C>G c.(19-21)CTG>GTG p.L7V YWHAE_uc002fsk.2_Translation_Start_Site|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 7 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) TGGTACACCAGATCCTCTCGA 0.662 NA 19 99 0 0 0 0 MNT 4335 broad.mit.edu 37 17 2298449 2298449 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:2298449C>T uc002fur.2 - 2 625 c.373G>A c.(373-375)GGC>AGC p.G125S NM_020310 NP_064706 Q99583 MNT_HUMAN MAX binding protein 125 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity skin(1) 1 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) CCGGGGGCGCCAACCAGGGCC 0.542 NA 4 7 0 0 0 0 ASPA 443 broad.mit.edu 37 17 3385074 3385074 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:3385074G>C uc010ckg.2 + 3 505 c.414G>C c.(412-414)CAG>CAC p.Q138H SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.Q138H NM_001128085 NP_001121557 P45381 ACY2_HUMAN aspartoacylase 138 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) TTTTAATTCAGATGTTTCATT 0.318 NA 3 22 0 0 0 0 PITPNM3 83394 broad.mit.edu 37 17 6373604 6373604 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:6373604G>A uc002gdd.3 - 13 1900 c.1749C>T c.(1747-1749)GAC>GAT p.D583D PITPNM3_uc010cln.2_Silent_p.D547D|PITPNM3_uc010clm.2_Silent_p.D66D|PITPNM3_uc002gdc.3_Silent_p.D174D NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 583 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) AGGCCACCACGTCTGTGGACT 0.652 NA 5 16 0 0 0 0 C17orf74 201243 broad.mit.edu 37 17 7329885 7329885 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:7329885C>T uc002ggw.2 + 3 648 c.575C>T c.(574-576)CCC>CTC p.P192L FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 192 integral to membrane 0 Prostate(122;0.157) GACAACCTGCCCTTCCCGTAT 0.597 NA 33 157 0 0 0 0 C17orf74 201243 broad.mit.edu 37 17 7330746 7330746 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:7330746C>T uc002ggw.2 + 3 1509 c.1436C>T c.(1435-1437)TCA>TTA p.S479L FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 479 integral to membrane 0 Prostate(122;0.157) AGGTCCAGCTCACTGCCACCG 0.632 NA 13 32 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:7578263G>A uc002gim.2 - 6 780 c.586C>T c.(586-588)CGA>TGA p.R196* TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 196 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 44 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7696466 7696466 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:7696466C>T uc002giu.1 + 47 7526 c.7512C>T c.(7510-7512)CTC>CTT p.L2504L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2504 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGATCCGCCTCTGGATTGACT 0.517 NA 22 84 0 0 0 0 ALOXE3 59344 broad.mit.edu 37 17 8021162 8021162 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:8021162C>T uc010cnr.2 - 2 517 c.147G>A c.(145-147)TCG>TCA p.S49S ALOXE3_uc002gka.2_Silent_p.S205S|ALOXE3_uc010vuo.1_Silent_p.S181S|ALOXE3_uc010vup.1_RNA NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 49 PLAT. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 TTGTACTCACCGATCCAGGGG 0.612 NA 4 24 0 0 0 0 WDR16 146845 broad.mit.edu 37 17 9545105 9545105 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:9545105C>G uc002gly.2 + 13 1709 c.1640C>G c.(1639-1641)TCG>TGG p.S547W WDR16_uc002glz.2_Missense_Mutation_p.S479W|WDR16_uc010coc.2_Missense_Mutation_p.S557W NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 547 WD 10. cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 CTGTCTGGGTCGATAAATGGC 0.458 NA 20 71 0 0 0 0 MYH3 4621 broad.mit.edu 37 17 10547749 10547749 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:10547749G>A uc002gmq.1 - 13 1406 c.1329C>T c.(1327-1329)CGC>CGT p.R443R NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 443 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GCTGGTTAATGCGAGTGACCA 0.398 NA 22 68 0 0 0 0 MYOCD 93649 broad.mit.edu 37 17 12642624 12642624 + Silent SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:12642624A>T uc002gnn.2 + 7 995 c.696A>T c.(694-696)ATA>ATT p.I232I MYOCD_uc002gno.2_Silent_p.I232I|MYOCD_uc002gnp.1_Silent_p.I136I NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 232 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCACCCCCATAGCCGTGCATG 0.587 NA 32 39 0 0 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318895 21318895 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:21318895C>T uc002gyv.1 + 3 946 c.241C>T c.(241-243)CGG>TGG p.R81W NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 81 Helical; Name=M1; (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CATCCGCTGGCGGTACATGCT 0.577 NA Prostate(3;0.18) 9 89 0 0 0 0 WSB1 26118 broad.mit.edu 37 17 25628934 25628934 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:25628934G>T uc002gzd.1 + 2 477 c.161G>T c.(160-162)GGA>GTA p.G54V WSB1_uc010vzy.1_Missense_Mutation_p.G54V|WSB1_uc010vzz.1_Missense_Mutation_p.G23V|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA NM_015626 NP_056441 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box-containing 1 isoform 1 54 WD 1. intracellular signal transduction intracellular protein binding 0 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGGTCACAAGGACATCGCACA 0.413 NA 35 201 3.76e-14 4.27e-14 1 0 TMEM99 147184 broad.mit.edu 37 17 38991082 38991082 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:38991082C>T uc002hvj.1 + 3 621 c.314C>T c.(313-315)TCG>TTG p.S105L NM_145274 NP_660317 Q8N816 TMM99_HUMAN transmembrane protein 99 precursor 105 Helical; (Potential). integral to membrane skin(1) 1 Breast(137;0.000301) GGTGTTGGCTCGTGGTTGCTC 0.468 NA 62 129 0 0 0 0 KCTD2 23510 broad.mit.edu 37 17 73049121 73049121 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:73049121A>T uc002jmp.2 + 3 528 c.461A>T c.(460-462)GAA>GTA p.E154V KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 154 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) GTGCTGGAGGAAGCGGAGTTT 0.463 NA 20 21 0 0 0 0 CANT1 124583 broad.mit.edu 37 17 76991155 76991155 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:76991155C>T uc002jwn.2 - 5 1219 c.780G>A c.(778-780)GAG>GAA p.E260E CANT1_uc002jwk.2_Silent_p.E260E|CANT1_uc002jwj.2_Silent_p.E260E|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 260 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) ACACCCAGTTCTCGTGGTCCA 0.652 NA T ETV4 prostate 6 13 0 0 0 0 SLC25A10 1468 broad.mit.edu 37 17 79673961 79673961 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:79673961C>T uc010wut.1 + 4 496 c.371C>T c.(370-372)GCG>GTG p.A124V MRPL12_uc002kbh.1_Missense_Mutation_p.A124V NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; Error:Variant_position_missing_in_Q9UBX3_after_alignment gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) ATCCCCATAGCGAAAGAACGG 0.562 NA 17 13 0 0 0 0 COLEC12 81035 broad.mit.edu 37 18 335145 335145 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:335145C>A uc002kkm.2 - 6 1628 c.1413G>T c.(1411-1413)GAG>GAT p.E471D NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 471 Collagen-like 1.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GCTCCCCCTTCTCTCCTTTCT 0.632 NA 14 42 0.00185496 0.00199474 1 0 ZNF521 25925 broad.mit.edu 37 18 22806343 22806343 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:22806343G>C uc002kvk.2 - 4 1786 c.1539C>G c.(1537-1539)TTC>TTG p.F513L ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.F513L|ZNF521_uc002kvl.2_Missense_Mutation_p.F293L NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 513 C2H2-type 12. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGGGACAAAAGAATGCATTAC 0.458 NA T PAX5 ALL 21 51 0 0 0 0 CXXC1 30827 broad.mit.edu 37 18 47810844 47810844 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:47810844G>A uc002leq.3 - 9 1842 c.1109C>T c.(1108-1110)GCG>GTG p.A370V MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.A227V|CXXC1_uc002ler.3_Missense_Mutation_p.A374V|CXXC1_uc010doy.2_Missense_Mutation_p.A370V|CXXC1_uc002les.2_Missense_Mutation_p.A370V NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 370 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GGGCAGTGACGCAGGGTCCTT 0.597 NA 13 120 0 0 0 0 ME2 4200 broad.mit.edu 37 18 48447048 48447048 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:48447048C>G uc002ley.2 + 9 1118 c.862C>G c.(862-864)CTA>GTA p.L288V ME2_uc010dpd.2_Missense_Mutation_p.L288V NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 288 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TGCAGTAGCTCTAGCAGGTCT 0.348 NA 40 50 0 0 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143901 55143901 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:55143901C>T uc002lgo.2 + 2 1493 c.1461C>T c.(1459-1461)GAC>GAT p.D487D NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 487 organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) AGTGGCAAGACGATCTGAGCA 0.572 NA 7 35 0 0 0 0 DOK6 220164 broad.mit.edu 37 18 67365664 67365664 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:67365664C>G uc002lkl.2 + 5 624 c.434C>G c.(433-435)CCT>CGT p.P145R NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 145 IRS-type PTB. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TATCTTATGCCTACACCAAAC 0.398 NA 11 37 0 0 0 0 DUS3L 56931 broad.mit.edu 37 19 5785684 5785684 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:5785684A>T uc002mdc.2 - 11 1778 c.1681T>A c.(1681-1683)TGG>AGG p.W561R PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.W319R|DUS3L_uc010duk.2_Missense_Mutation_p.W226R NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 561 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 TCCGAGCCCCAGTGCTCCAGG 0.677 NA 6 18 0 0 0 0 TUBB4 10382 broad.mit.edu 37 19 6495873 6495873 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:6495873G>A uc002mfg.1 - 4 744 c.637C>T c.(637-639)CGC>TGC p.R213C TUBB4_uc002mff.1_Missense_Mutation_p.R141C|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 213 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) TTGAGGGTGCGGAAACAGATG 0.627 NA 31 105 0 0 0 0 STXBP2 6813 broad.mit.edu 37 19 7708073 7708073 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:7708073C>G uc002mha.3 + 13 1094 c.1049C>G c.(1048-1050)GCA>GGA p.A350G STXBP2_uc002mhb.3_Missense_Mutation_p.A347G|STXBP2_uc010dvj.2_Intron|STXBP2_uc010xjr.1_Missense_Mutation_p.A361G|STXBP2_uc010dvk.2_Missense_Mutation_p.A318G|STXBP2_uc002mhc.3_Missense_Mutation_p.A118G|STXBP2_uc002mhe.1_5'Flank NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 350 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 CTGCATCTAGCAGATGATTGT 0.587 NA 9 37 0 0 0 0 ZNF443 10224 broad.mit.edu 37 19 12541320 12541320 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:12541320C>T uc002mtu.2 - 4 1864 c.1666G>A c.(1666-1668)GGA>AGA p.G556R NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 556 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 GGCTTCTCTCCAGAGTGAATT 0.388 NA 11 49 0 0 0 0 DCAF15 90379 broad.mit.edu 37 19 14070284 14070284 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:14070284G>A uc002mxt.2 + 7 1218 c.1212G>A c.(1210-1212)CCG>CCA p.P404P DCAF15_uc002mxu.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 404 central_nervous_system(1) 1 GGACGGAGCCGGAGGATGGTG 0.687 NA 25 49 0 0 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276316 15276316 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:15276316C>T uc002nan.2 - 31 5754 c.5678G>A c.(5677-5679)CGA>CAA p.R1893Q NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1893 ANK 2.|Cytoplasmic (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGAGCGGTTTCGGATGAGAAT 0.592 NA 6 22 0 0 0 0 CEBPG 1054 broad.mit.edu 37 19 33870422 33870422 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:33870422A>T uc002nup.2 + 2 566 c.277A>T c.(277-279)AGA>TGA p.R93* NM_001806 NP_001797 P53567 CEBPG_HUMAN CCAAT/enhancer binding protein gamma 93 B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Esophageal squamous(110;0.137) CACACTGCAGAGAGTCAATCA 0.438 NA 9 12 0 0 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38591744 38591744 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:38591744C>G uc002ohk.2 + 6 2416 c.1907C>G c.(1906-1908)TCC>TGC p.S636C NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 636 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCCAGAGCTCCGAGGAGGAG 0.607 NA 8 28 0 0 0 0 LIPE 3991 broad.mit.edu 37 19 42912238 42912238 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:42912238A>G uc002otr.2 - 4 1823 c.1546T>C c.(1546-1548)TTT>CTT p.F516L uc010eif.1_Intron|LIPE_uc002ots.1_Missense_Mutation_p.F261L NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 516 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) TCGATGGCAAAGCGGCCGCTG 0.627 NA 14 74 0 0 0 0 PPFIA3 8541 broad.mit.edu 37 19 49636571 49636571 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:49636571G>A uc002pmr.2 + 9 1436 c.1104G>A c.(1102-1104)GCG>GCA p.A368A PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.A292A|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.A236A NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 368 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TGCAGAAAGCGGAGACCTTGC 0.677 NA 8 44 0 0 0 0 SPIB 6689 broad.mit.edu 37 19 50925756 50925756 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:50925756G>A uc002psd.2 + 3 103 c.78G>A c.(76-78)CTG>CTA p.L26L SPIB_uc002pse.2_Silent_p.L26L|SPIB_uc010ycc.1_Nonsense_Mutation_p.W7* NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 26 TAD1 (Acidic). 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) TCTATGACCTGGACAGCTGCA 0.577 NA 16 21 0 0 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51994964 51994964 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:51994964C>T uc002pwx.1 - 8 1775 c.1719G>A c.(1717-1719)GCG>GCA p.A573A SIGLEC12_uc002pww.1_Silent_p.A455A|SIGLEC12_uc010eoy.1_Silent_p.A300A NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 573 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACTGAGGCCTCGCTTTGTGGA 0.597 NA 16 159 0 0 0 0 ZNF615 284370 broad.mit.edu 37 19 52497522 52497522 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:52497522G>A uc002pye.1 - 6 1099 c.807C>T c.(805-807)TTC>TTT p.F269F ZNF615_uc002pyf.1_Silent_p.F280F|ZNF615_uc002pyg.1_Silent_p.F161F|ZNF615_uc002pyh.1_Silent_p.F280F|ZNF615_uc010epi.1_Silent_p.F276F|ZNF615_uc010ydg.1_Silent_p.F274F NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 269 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) ATTTCTTGAGGAAGGTTTTGT 0.413 NA 24 220 0 0 0 0 ZNF28 7576 broad.mit.edu 37 19 53303120 53303120 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:53303120C>G uc002qad.2 - 4 2098 c.1978G>C c.(1978-1980)GAG>CAG p.E660Q ZNF28_uc002qac.2_Missense_Mutation_p.E607Q|ZNF28_uc010eqe.2_Missense_Mutation_p.E606Q NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TAAGGTTTCTCTCCACTATGA 0.423 NA 26 231 0 0 0 0 ZNF415 55786 broad.mit.edu 37 19 53612314 53612314 + Nonsense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:53612314G>T uc002qax.2 - 7 1477 c.1128C>A c.(1126-1128)TAC>TAA p.Y376* ZNF415_uc002qat.2_Nonsense_Mutation_p.Y340*|ZNF415_uc002qaw.2_Nonsense_Mutation_p.Y328*|ZNF415_uc010yds.1_Nonsense_Mutation_p.Y328*|ZNF415_uc010ydt.1_Nonsense_Mutation_p.Y328*|ZNF415_uc002qau.2_Nonsense_Mutation_p.Y315*|ZNF415_uc002qav.2_Nonsense_Mutation_p.Y340*|ZNF415_uc002qba.2_Nonsense_Mutation_p.Y98*|ZNF415_uc002qay.2_Nonsense_Mutation_p.Y315*|ZNF415_uc002qaz.2_Nonsense_Mutation_p.Y376* NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 376 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) CTTTACATGTGTAAGGTTTCT 0.398 NA 40 41 5.72e-15 6.5e-15 1 0 ZNF765 91661 broad.mit.edu 37 19 53912281 53912281 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:53912281G>A uc010ydx.1 + 6 1800 c.1473G>A c.(1471-1473)CAG>CAA p.Q491Q ZNF765_uc002qbm.2_Silent_p.Q491Q|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) ATACTGGACAGAAACCTTACA 0.378 NA 13 98 0 0 0 0 ALLC 55821 broad.mit.edu 37 2 3749215 3749215 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:3749215C>T uc010ewt.2 + 11 1125 c.964C>T c.(964-966)CCA>TCA p.P322S ALLC_uc002qyf.2_Missense_Mutation_p.P93S NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 341 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) ACCACTGCTTCCAGTGACCAA 0.488 NA HNSCC(21;0.051) 6 13 0 0 0 0 ZNF513 130557 broad.mit.edu 37 2 27601470 27601470 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:27601470C>T uc002rkk.2 - 3 863 c.663G>A c.(661-663)CTG>CTA p.L221L ZNF513_uc002rkj.2_Silent_p.L159L NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 221 C2H2-type 3. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGCCGCCTCAGGTTGCCCA 0.682 NA 15 46 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32724766 32724766 + Nonsense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:32724766C>G uc010ezu.2 + 46 8755 c.8621C>G c.(8620-8622)TCA>TGA p.S2874* NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2874 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ATCACTTGCTCAGACAAAGTA 0.433 NA 44 123 0 0 0 0 FANCL 55120 broad.mit.edu 37 2 58388764 58388764 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:58388764T>C uc002rzw.3 - 12 980 c.913A>G c.(913-915)ATG>GTG p.M305V FANCL_uc002rzx.3_Missense_Mutation_p.M310V|FANCL_uc010fce.2_Missense_Mutation_p.M277V|FANCL_uc010fcf.1_Missense_Mutation_p.M246V NM_018062 NP_060532 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L isoform 305 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CCACAATCCATAGTAAAATCC 0.264 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 2 19 0 0 0 0 POLR1A 25885 broad.mit.edu 37 2 86267597 86267597 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:86267597C>T uc002sqs.2 - 25 4037 c.3658G>A c.(3658-3660)GGA>AGA p.G1220R POLR1A_uc010ytb.1_Missense_Mutation_p.G586R|POLR1A_uc002sqt.1_Missense_Mutation_p.G243R NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1220 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GAGGGCTCTCCGATGCTCTGG 0.627 NA 11 41 0 0 0 0 LONRF2 164832 broad.mit.edu 37 2 100916183 100916183 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:100916183C>T uc002tal.3 - 5 1903 c.1263G>A c.(1261-1263)AAG>AAA p.K421K LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 421 proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 ACTGACCTTTCTTGGGAATTT 0.398 NA 22 68 0 0 0 0 SLC5A7 60482 broad.mit.edu 37 2 108608589 108608589 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:108608589A>G uc002tdv.2 + 3 482 c.206A>G c.(205-207)AAT>AGT p.N69S SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.N69S|SLC5A7_uc010ywn.1_5'UTR NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 69 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GGGTATATCAATGGCACAGCT 0.403 NA 16 24 0 0 0 0 CCDC93 54520 broad.mit.edu 37 2 118758500 118758500 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:118758500G>C uc002tlj.2 - 4 386 c.260C>G c.(259-261)TCA>TGA p.S87* CCDC93_uc010fld.1_Nonsense_Mutation_p.S87* NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 87 large_intestine(1)|ovary(1) 2 AATTTTTTCTGACAGAGCTCT 0.463 NA 14 29 0 0 0 0 LIMS2 55679 broad.mit.edu 37 2 128412466 128412466 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:128412466T>C uc002tpa.2 - 3 342 c.176A>G c.(175-177)GAA>GGA p.E59G LIMS2_uc002tox.2_Missense_Mutation_p.E83G|LIMS2_uc010fmb.2_5'UTR|LIMS2_uc002toy.2_Missense_Mutation_p.E54G|LIMS2_uc010yzm.1_Missense_Mutation_p.E81G|LIMS2_uc002toz.2_Missense_Mutation_p.E54G|LIMS2_uc002tpb.2_Missense_Mutation_p.E54G NM_001161403 NP_001154875 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 59 LIM zinc-binding 1. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CTTCCGGCCTTCAAACTGCAA 0.582 NA 3 23 0 0 0 0 ACVR1C 130399 broad.mit.edu 37 2 158390507 158390507 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:158390507C>T uc002tzk.3 - 9 1648 c.1405G>A c.(1405-1407)GGA>AGA p.G469R ACVR1C_uc002tzl.3_Missense_Mutation_p.G389R|ACVR1C_uc010fof.2_Missense_Mutation_p.G312R|ACVR1C_uc010foe.2_Missense_Mutation_p.G419R NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 469 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 CGGGCCGCTCCGTTGGCATAC 0.388 NA 17 109 0 0 0 0 TANC1 85461 broad.mit.edu 37 2 160086120 160086120 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:160086120G>A uc002uag.2 + 27 4457 c.4183G>A c.(4183-4185)GAG>AAG p.E1395K TANC1_uc010zcm.1_Silent_p.K1388K|TANC1_uc010fon.2_Missense_Mutation_p.E239K NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1395 TPR 3. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TGACCTGCAAGAGGCTGTGAA 0.473 NA 9 40 0 0 0 0 LASS6 253782 broad.mit.edu 37 2 169417810 169417810 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:169417810C>G uc002ueb.1 + 3 509 c.385C>G c.(385-387)CTG>GTG p.L129V LASS6_uc002uec.1_Missense_Mutation_p.L129V NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN longevity assurance homolog 6 129 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity skin(1) 1 GCCAAGCACGCTGACGAGGTT 0.448 NA 15 100 0 0 0 0 DCAF17 80067 broad.mit.edu 37 2 172314572 172314572 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:172314572C>A uc002ugx.2 + 7 948 c.719C>A c.(718-720)ACC>AAC p.T240N DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.T240N|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Intron NM_025000 NP_079276 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 isoform 1 240 Helical; (Potential). CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus 0 AGCTTCCAAACCATCGCTGAA 0.388 NA 81 231 1.22e-31 1.4e-31 1 0 TTN 7273 broad.mit.edu 37 2 179434801 179434801 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:179434801C>G uc010zfg.1 - 275 68578 c.68354G>C c.(68353-68355)AGA>ACA p.R22785T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16480T|TTN_uc010zfi.1_Missense_Mutation_p.R16413T|TTN_uc010zfj.1_Missense_Mutation_p.R16288T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23712 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTATGGCATCTTGTCCATCT 0.423 NA 3 141 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179474959 179474959 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:179474959C>T uc010zfg.1 - 220 43814 c.43590G>A c.(43588-43590)ATG>ATA p.M14530I uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M8225I|TTN_uc010zfi.1_Missense_Mutation_p.M8158I|TTN_uc010zfj.1_Missense_Mutation_p.M8033I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15457 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCACCAGACATGACTGGTA 0.443 NA 144 169 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179616442 179616442 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:179616442G>A uc002unb.2 - 46 10909 c.10685C>T c.(10684-10686)TCT>TTT p.S3562F TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAGCTGGAAGAGTGATGGTG 0.423 NA 41 101 0 0 0 0 COL3A1 1281 broad.mit.edu 37 2 189864617 189864617 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:189864617C>G uc002uqj.1 + 32 2396 c.2279C>G c.(2278-2280)CCA>CGA p.P760R NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 760 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAAGATGGCCCAAGGGTGAGT 0.438 NA 3 19 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202149644 202149644 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:202149644A>T uc002uxr.1 + 9 1117 c.908A>T c.(907-909)GAC>GTC p.D303V CASP8_uc002uxp.1_Missense_Mutation_p.D320V|CASP8_uc002uxq.1_Missense_Mutation_p.D288V|CASP8_uc002uxt.1_Missense_Mutation_p.D362V|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.D288V|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.D219V NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 303 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CAACTCATGGACCACAGTAAC 0.473 NA HNSCC(4;0.00038) 81 83 0 0 0 0 MARCH4 57574 broad.mit.edu 37 2 217124226 217124226 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:217124226C>A uc002vgb.2 - 4 2809 c.1042G>T c.(1042-1044)GAA>TAA p.E348* NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 348 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GTCTCCTCTTCCGAGGAGGGG 0.622 NA 18 27 5.35e-07 5.94e-07 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3669239 3669239 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:3669239C>T uc002wja.2 - 21 5098 c.5098G>A c.(5098-5100)GAG>AAG p.E1700K SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Silent_p.V1675V NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1700 Cytoplasmic (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GTTGAGGTCTCACATGTGGCT 0.612 NA 5 18 0 0 0 0 BFSP1 631 broad.mit.edu 37 20 17475534 17475534 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:17475534C>G uc002wpo.2 - 8 1222 c.1183G>C c.(1183-1185)GAA>CAA p.E395Q BFSP1_uc002wpp.2_Missense_Mutation_p.E270Q|BFSP1_uc010zrn.1_Missense_Mutation_p.E256Q|BFSP1_uc010zro.1_Missense_Mutation_p.E256Q NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 395 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 TTTGTGTCTTCCAAACCTTTT 0.413 NA 48 74 0 0 0 0 SUN5 140732 broad.mit.edu 37 20 31590695 31590695 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:31590695C>T uc002wyi.2 - 2 201 c.108G>A c.(106-108)AGG>AGA p.R36R NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 36 spermatogenesis skin(1) 1 CCTCTGCCATCCTGCTGGTGT 0.403 NA 19 49 0 0 0 0 BPIL1 80341 broad.mit.edu 37 20 31606867 31606867 + Splice_Site SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:31606867G>A uc002wyj.2 + 10 1050 c.856_splice c.e10-1 p.R286_splice NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 GCTGATTTCAGAGGTCGGATG 0.572 NA 44 83 0 0 0 0 OSBPL2 9885 broad.mit.edu 37 20 60835072 60835072 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:60835072G>A uc002yck.1 + 3 275 c.73G>A c.(73-75)GAG>AAG p.E25K OSBPL2_uc002ycl.1_Splice_Site_p.E13_splice|OSBPL2_uc011aah.1_Intron NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 25 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GGAATTTTCAGAGGCAAATCA 0.423 NA 23 55 0 0 0 0 NKAIN4 128414 broad.mit.edu 37 20 61873937 61873937 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:61873937G>A uc002yek.2 - 6 661 c.571C>T c.(571-573)CAT>TAT p.H191Y NM_152864 NP_690603 Q8IVV8 NKAI4_HUMAN Na+/K+ transporting ATPase interacting 4 191 integral to membrane|plasma membrane 0 all_cancers(38;2.72e-09) TCATTGACATGGTAGAGAGGA 0.453 NA 65 198 0 0 0 0 SFRS15 57466 broad.mit.edu 37 21 33057747 33057747 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr21:33057747G>A uc002ypd.2 - 18 2686 c.2260C>T c.(2260-2262)CCT>TCT p.P754S SFRS15_uc002ype.2_Missense_Mutation_p.P754S|SFRS15_uc010glu.2_Missense_Mutation_p.P739S|SFRS15_uc002ypf.1_Missense_Mutation_p.P428S NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 754 nucleus nucleotide binding|RNA binding 0 TGAGGAGGAGGAATGGATACT 0.453 NA 12 63 0 0 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011649 46011649 + Missense_Mutation SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr21:46011649A>C uc002zfm.2 - 1 738 c.717T>G c.(715-717)TGT>TGG p.C239W C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 239 21.|29 X 5 AA repeats of C-C-X(3). keratin filament 0 AGGTGGGCACACAGCACACAG 0.657 NA 70 197 0 0 0 0 SLC19A1 6573 broad.mit.edu 37 21 46957703 46957703 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr21:46957703C>T uc002zhl.1 - 2 290 c.171G>A c.(169-171)AAG>AAA p.K57K SLC19A1_uc010gpy.1_Silent_p.K57K|SLC19A1_uc002zhm.1_Silent_p.K57K|SLC19A1_uc010gpz.1_5'UTR NM_194255 NP_919231 P41440 S19A1_HUMAN solute carrier family 19 member 1 57 Extracellular (Probable). folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity 0 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GCGTGAAGTTCTTGTCGGGCC 0.687 NA 7 7 0 0 0 0 MCM3AP 8888 broad.mit.edu 37 21 47697544 47697544 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr21:47697544G>A uc002zir.1 - 5 1791 c.1755C>T c.(1753-1755)CTC>CTT p.L585L NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 585 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CACATGGCCCGAGGCCCTCGG 0.552 NA 12 111 0 0 0 0 CECR1 51816 broad.mit.edu 37 22 17662734 17662734 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:17662734T>A uc002zmk.1 - 8 1630 c.1418A>T c.(1417-1419)AAA>ATA p.K473I CECR1_uc010gqu.1_Missense_Mutation_p.K473I|CECR1_uc011agi.1_Missense_Mutation_p.K431I|CECR1_uc002zmj.1_Missense_Mutation_p.K232I NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 473 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GGCCAGCTGTTTGAGGGTCCT 0.547 NA 26 50 0 0 0 0 IGLL1 3543 broad.mit.edu 37 22 23915612 23915612 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:23915612C>G uc002zxd.2 - 3 601 c.483G>C c.(481-483)GAG>GAC p.E161D IGLL1_uc002zxe.2_3'UTR NM_020070 NP_064455 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 isoform 161 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane 0 GCGTGGTCATCTCCACGCCCT 0.582 NA 3 154 0 0 0 0 MGAT3 4248 broad.mit.edu 37 22 39883764 39883764 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:39883764G>A uc003axv.3 + 2 651 c.412G>A c.(412-414)GAG>AAG p.E138K MGAT3_uc010gxy.2_Missense_Mutation_p.E138K NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 138 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) GGAGAAGCCTGAGGGGGCCAA 0.741 NA 4 11 0 0 0 0 MKL1 57591 broad.mit.edu 37 22 40815316 40815316 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:40815316G>A uc003ayv.1 - 9 1333 c.1126C>T c.(1126-1128)CGC>TGC p.R376C MKL1_uc003ayw.1_Missense_Mutation_p.R376C|MKL1_uc010gye.1_Missense_Mutation_p.R376C|MKL1_uc010gyf.1_Missense_Mutation_p.R326C NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 376 SAP. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCTCGAAGGCGCTCAATCAGC 0.607 NA T RBM15 acute megakaryocytic leukemia 8 26 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41573028 41573028 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:41573028C>A uc003azl.3 + 31 5708 c.5313C>A c.(5311-5313)TGC>TGA p.C1771* NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1771 Binding region for E1A adenovirus.|TAZ-type 2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CCAAGGGTTGCAAACGGAAAA 0.567 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 9 38 3.86e-05 4.23e-05 1 0 XRCC6 2547 broad.mit.edu 37 22 42033722 42033722 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:42033722G>C uc003bao.1 + 6 770 c.700G>C c.(700-702)GAG>CAG p.E234Q XRCC6_uc003bap.1_Missense_Mutation_p.E193Q|XRCC6_uc011apc.1_Missense_Mutation_p.E184Q|XRCC6_uc003baq.1_Missense_Mutation_p.E234Q|XRCC6_uc003bar.1_Missense_Mutation_p.E234Q|XRCC6_uc003bas.1_Missense_Mutation_p.E184Q NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 234 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 GGTTCACTTTGAGGAATCCAG 0.537 NA Direct_reversal_of_damage|NHEJ 3 18 0 0 0 0 TRMU 55687 broad.mit.edu 37 22 46751462 46751462 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:46751462G>C uc003bhp.2 + 9 1359 c.995G>C c.(994-996)CGA>CCA p.R332P TRMU_uc003bhq.2_Missense_Mutation_p.R114P|TRMU_uc003bhs.2_Missense_Mutation_p.R332P|TRMU_uc003bhr.2_Missense_Mutation_p.R218P|TRMU_uc003bht.2_Missense_Mutation_p.R185P|TRMU_uc003bhu.2_Missense_Mutation_p.R114P|TRMU_uc003bhv.2_Missense_Mutation_p.R185P NM_018006 NP_060476 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate 332 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding ovary(1) 1 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) TGCCACTTCCGATTCCGCCAC 0.642 NA OREG0026654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 33 0 0 0 0 TRMU 55687 broad.mit.edu 37 22 46752850 46752850 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:46752850G>A uc003bhp.2 + 11 1577 c.1213G>A c.(1213-1215)GAG>AAG p.E405K TRMU_uc003bhq.2_Missense_Mutation_p.E187K|TRMU_uc003bhs.2_Silent_p.*377*|TRMU_uc003bhr.2_Missense_Mutation_p.E291K|TRMU_uc003bht.2_Missense_Mutation_p.E258K|TRMU_uc003bhu.2_Missense_Mutation_p.E187K|TRMU_uc003bhv.2_Silent_p.*230* NM_018006 NP_060476 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate 405 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding ovary(1) 1 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) GATGGCCACTGAGAGCCCCAG 0.632 NA 15 39 0 0 0 0 KCNH8 131096 broad.mit.edu 37 3 19295208 19295208 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:19295208G>A uc003cbk.1 + 2 334 c.139G>A c.(139-141)GAT>AAT p.D47N KCNH8_uc011awe.1_Missense_Mutation_p.D47N|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 47 Cytoplasmic (Potential).|PAS. integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CTACTGTTCCGATGGCTTCTG 0.453 NA 12 103 0 0 0 0 SLC6A20 54716 broad.mit.edu 37 3 45804560 45804560 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:45804560C>G uc011bai.1 - 9 1432 c.1308G>C c.(1306-1308)CTG>CTC p.L436L SLC6A20_uc003cow.2_Silent_p.L86L|SLC6A20_uc011baj.1_Silent_p.L399L NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 436 Helical; Name=9; (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CAAGGCACACCAGACCTGGGG 0.592 NA 13 55 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53757958 53757958 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:53757958T>A uc003dgv.3 + 14 2195 c.2032T>A c.(2032-2034)TTT>ATT p.F678I CACNA1D_uc003dgu.3_Missense_Mutation_p.F698I|CACNA1D_uc003dgy.3_Missense_Mutation_p.F678I|CACNA1D_uc003dgw.3_Missense_Mutation_p.F345I NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 678 Extracellular (Potential).|II. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CAAGTTTAATTTTGATGAAAC 0.463 NA 15 39 0 0 0 0 PARP14 54625 broad.mit.edu 37 3 122420364 122420364 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:122420364C>T uc003efq.3 + 6 3022 c.2963C>T c.(2962-2964)CCG>CTG p.P988L PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.P705L|PARP14_uc003efs.1_Missense_Mutation_p.P705L NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 988 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) ACAGCTGCCCCGCCAGGTTTA 0.522 NA 4 17 0 0 0 0 ROPN1B 152015 broad.mit.edu 37 3 125694519 125694519 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:125694519C>G uc003eih.2 + 3 458 c.230C>G c.(229-231)TCT>TGT p.S77C ROPN1B_uc010hsb.2_Missense_Mutation_p.S77C|ROPN1B_uc010hsc.2_5'UTR|ROPN1B_uc011bkg.1_Missense_Mutation_p.S77C NM_001012337 NP_001012337 Q9BZX4 ROP1B_HUMAN ropporin, rhophilin associated protein 1B 77 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity 0 GBM - Glioblastoma multiforme(114;0.151) ATCCTGCATTCTCAGGTAAGG 0.567 NA 18 42 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126733043 126733043 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:126733043C>T uc003ejg.2 + 11 2364 c.2360C>T c.(2359-2361)CCG>CTG p.P787L NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 810 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) TACAAGTGCCCGGCCCTGCGC 0.736 NA 6 25 0 0 0 0 ASTE1 28990 broad.mit.edu 37 3 130744130 130744130 + Missense_Mutation SNP C C G rs139512239 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:130744130C>G uc003env.1 - 3 463 c.21G>C c.(19-21)ATG>ATC p.M7I NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.M7I|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 7 DNA repair nuclease activity 0 CCACAAAACTCATTAGTCCTC 0.378 NA 22 57 0 0 0 0 GYG1 2992 broad.mit.edu 37 3 148712030 148712030 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:148712030G>A uc003ewn.2 + 2 162 c.109G>A c.(109-111)GTG>ATG p.V37M GYG1_uc011bnp.1_Missense_Mutation_p.V37M|GYG1_uc003ewo.2_Missense_Mutation_p.V37M|GYG1_uc003ewp.2_Missense_Mutation_p.V37M NM_004130 NP_004121 P46976 GLYG_HUMAN glycogenin 1 37 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAGGCTGGTCGTGCTCGCCAC 0.587 NA 18 65 0 0 0 0 TNIK 23043 broad.mit.edu 37 3 170802911 170802911 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:170802911G>A uc003fhh.2 - 25 3339 c.2994C>T c.(2992-2994)GCC>GCT p.A998A TNIK_uc003fhi.2_Silent_p.A943A|TNIK_uc003fhj.2_Silent_p.A969A|TNIK_uc003fhk.2_Silent_p.A990A|TNIK_uc003fhl.2_Silent_p.A914A|TNIK_uc003fhm.2_Silent_p.A935A|TNIK_uc003fhn.2_Silent_p.A961A|TNIK_uc003fho.2_Silent_p.A906A|TNIK_uc003fhg.2_Silent_p.A176A|TNIK_uc003fhp.2_5'Flank NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 998 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GCTTACCTGCGGCTGATGATT 0.483 NA 3 8 0 0 0 0 IQCG 84223 broad.mit.edu 37 3 197670906 197670906 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:197670906A>G uc003fyo.2 - 3 171 c.25T>C c.(25-27)TCA>CCA p.S9P IQCG_uc003fyp.2_Missense_Mutation_p.S9P|IQCG_uc003fyq.3_Missense_Mutation_p.S9P NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 9 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GGAAGGTTTGAGTCTTCCAGG 0.408 NA 3 161 0 0 0 0 DGKQ 1609 broad.mit.edu 37 4 959304 959304 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:959304G>A uc003gbw.2 - 14 1667 c.1593C>T c.(1591-1593)TCC>TCT p.S531S DGKQ_uc010ibn.2_Intron NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 531 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGTGACTCACGGACACCACGG 0.667 NA 5 18 0 0 0 0 IDUA 3425 broad.mit.edu 37 4 995557 995557 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:995557C>G uc003gby.2 + 6 768 c.680C>G c.(679-681)ACC>AGC p.T227S IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.T180S NM_000203 NP_000194 P35475 IDUA_HUMAN alpha-L-iduronidase precursor 227 disaccharide metabolic process lysosome cation binding|L-iduronidase activity 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) TCCTTCCACACCCCACCGCGA 0.711 NA 3 16 0 0 0 0 OTOP1 133060 broad.mit.edu 37 4 4199228 4199228 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:4199228C>G uc003ghp.1 - 5 1363 c.1333G>C c.(1333-1335)GAA>CAA p.E445Q NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 445 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGAATGGATTCAAAGATGAAG 0.542 NA 10 62 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66356413 66356413 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:66356413G>C uc003hcy.2 - 5 1277 c.1084C>G c.(1084-1086)CGG>GGG p.R362G EPHA5_uc003hcx.2_Missense_Mutation_p.R293G|EPHA5_uc003hcz.2_Missense_Mutation_p.R362G|EPHA5_uc011cah.1_Missense_Mutation_p.R362G|EPHA5_uc011cai.1_Missense_Mutation_p.R362G|EPHA5_uc003hda.2_Missense_Mutation_p.R362G NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 362 Fibronectin type-III 1.|Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ATGGCATTCCGAGGAGCAGAG 0.393 NA TSP Lung(17;0.13) 13 37 0 0 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675521 77675521 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:77675521C>T uc011cbx.1 + 7 4838 c.3885C>T c.(3883-3885)CTC>CTT p.L1295L SHROOM3_uc003hkg.2_Silent_p.L1073L NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1295 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) TCCACCATCTCACCCCTCGTT 0.542 NA 41 133 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79403007 79403007 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:79403007C>T uc003hlb.2 + 57 8933 c.8493C>T c.(8491-8493)TTC>TTT p.F2831F NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2826 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCTCTACTTTCGCATCTGTCT 0.493 NA 63 180 0 0 0 0 FAM190A 401145 broad.mit.edu 37 4 91230090 91230090 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:91230090A>G uc003hsv.3 + 2 995 c.655A>G c.(655-657)AGA>GGA p.R219G FAM190A_uc003hsu.3_Missense_Mutation_p.R219G|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.R219G NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 219 large_intestine(1)|ovary(1) 2 GTACCAAGAGAGAGAACCTGT 0.408 NA 12 30 0 0 0 0 C4orf33 132321 broad.mit.edu 37 4 130023861 130023861 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:130023861G>A uc003igu.3 + 2 460 c.96G>A c.(94-96)ATG>ATA p.M32I C4orf33_uc010ioc.1_Missense_Mutation_p.M32I|C4orf33_uc010iod.2_Missense_Mutation_p.M32I NM_173487 NP_775758 Q8N1A6 CD033_HUMAN hypothetical protein LOC132321 32 upper_aerodigestive_tract(1) 1 GAGTGATGATGGACATTAGTG 0.438 NA 13 48 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153332853 153332853 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:153332853G>A uc003ims.2 - 2 252 c.103C>T c.(103-105)CGT>TGT p.R35C FBXW7_uc011cii.1_Missense_Mutation_p.R35C|FBXW7_uc003imt.2_Missense_Mutation_p.R35C|FBXW7_uc003imu.2_Missense_Mutation_p.R35C NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 35 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCTACCACACGATTCATCTGT 0.507 NA Mis|N|D|F colorectal|endometrial|T-ALL 47 90 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187539252 187539252 + Nonsense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:187539252G>A uc003izf.2 - 10 8676 c.8488C>T c.(8488-8490)CAG>TAG p.Q2830* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2830 Extracellular (Potential).|Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GCCCTGATCTGAATTACTCTA 0.438 NA HNSCC(5;0.00058) 35 72 0 0 0 0 IRX1 79192 broad.mit.edu 37 5 3600291 3600291 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:3600291C>G uc003jde.2 + 2 1281 c.1229C>G c.(1228-1230)CCA>CGA p.P410R NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 410 Poly-Pro. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CCTGCACCTCCACCACCGCAG 0.701 NA 15 69 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14406048 14406048 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:14406048A>G uc003jff.2 + 32 4814 c.4808A>G c.(4807-4809)GAG>GGG p.E1603G TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.E1252G NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1603 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GCCCTGAAGGAGCCCATTCAC 0.577 NA 10 25 0 0 0 0 ZNF622 90441 broad.mit.edu 37 5 16465329 16465329 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:16465329G>A uc003jfq.2 - 1 566 c.446C>T c.(445-447)CCA>CTA p.P149L NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 149 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TGCAGGCGCTGGGGGCGCCTT 0.652 NA 65 92 0 0 0 0 RANBP3L 202151 broad.mit.edu 37 5 36265595 36265595 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:36265595G>C uc003jkh.2 - 5 789 c.296C>G c.(295-297)TCA>TGA p.S99* RANBP3L_uc011cow.1_Nonsense_Mutation_p.S124* NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 99 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CACAAGAGCTGATGTCATAAA 0.299 NA 6 32 0 0 0 0 NIPBL 25836 broad.mit.edu 37 5 37048678 37048678 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:37048678G>C uc003jkl.3 + 39 7163 c.6664G>C c.(6664-6666)GAT>CAT p.D2222H NIPBL_uc003jkk.3_Missense_Mutation_p.D2222H|NIPBL_uc003jkn.2_5'Flank NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2222 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TATTTTATCTGATAAGAACTC 0.363 NA 13 37 0 0 0 0 C6 729 broad.mit.edu 37 5 41143093 41143093 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:41143093C>G uc003jmk.2 - 18 2849 c.2639G>C c.(2638-2640)TGT>TCT p.C880S C6_uc003jml.1_Missense_Mutation_p.C880S NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 880 Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TAGGCAGACACATTTGGAAGT 0.458 NA 12 53 0 0 0 0 ITGA2 3673 broad.mit.edu 37 5 52351412 52351412 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:52351412C>T uc003joy.2 + 8 967 c.824C>T c.(823-825)ACG>ATG p.T275M ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.T199M|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 275 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CGAAGTGCTACGAAAGTAATG 0.373 NA 15 58 0 0 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761101 121761101 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:121761101C>G uc003ksw.1 + 5 1263 c.1057C>G c.(1057-1059)CTA>GTA p.L353V SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.L353V|SNCAIP_uc003ksx.1_Missense_Mutation_p.L400V|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.L47V|SNCAIP_uc010jcx.1_Intron NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 353 ANK 1. cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TGGAAACAATCTATTACATAT 0.428 NA 55 54 0 0 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476460 140476460 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:140476460T>C uc003lil.2 + 1 2224 c.2086T>C c.(2086-2088)TTG>CTG p.L696L PCDHB2_uc003lim.1_Silent_p.L357L NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 696 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTGGCGTTGGCCTCGGT 0.697 NA 52 166 0 0 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482313 140482313 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:140482313T>C uc003lio.2 + 1 2080 c.2080T>C c.(2080-2082)TTG>CTG p.L694L uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 694 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTGGCATTGGCCTCGGT 0.687 NA 10 67 0 0 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568971 140568971 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:140568971T>C uc003liw.1 + 3 2080 c.2080T>C c.(2080-2082)TTG>CTG p.L694L PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 694 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTGGCGTTGGCCTCGGT 0.706 NA 7 179 0 0 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595775 140595775 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:140595775T>C uc003lja.1 + 1 2267 c.2080T>C c.(2080-2082)TTG>CTG p.L694L NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 694 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTGGCGTTGGCCTCGGT 0.682 NA 5 227 0 0 0 0 ZNF300 91975 broad.mit.edu 37 5 150276445 150276445 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:150276445C>T uc003lsy.1 - 6 623 c.356G>A c.(355-357)GGT>GAT p.G119D IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACAATGAACCATCCCTTGT 0.413 NA 26 24 0 0 0 0 FLT4 2324 broad.mit.edu 37 5 180047255 180047255 + Silent SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:180047255C>A uc003mma.3 - 17 2539 c.2460G>T c.(2458-2460)GGG>GGT p.G820G FLT4_uc003mlz.3_Silent_p.G820G|FLT4_uc003mmb.1_Silent_p.G353G NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 820 Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GAGGCACCTCCCCGGGGTCCA 0.652 NA Congenital_Hereditary_Lymphedema 49 48 1.86e-20 2.14e-20 1 0 FAM136B 387071 broad.mit.edu 37 6 3045940 3045941 + Missense_Mutation DNP AC AC TT TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:3045940_3045941AC>TT uc011dhr.1 + 1 323_324 c.323_324AC>TT c.(322-324)GAC>GTT p.D108V NM_001012983 NP_001013001 hypothetical protein LOC387071 0 Ovarian(93;0.0386) all_hematologic(90;0.108) CAGCAGCTGGACGGTTGTGTGA 0.48 NA 8 102 0 0 0 0 OR14J1 442191 broad.mit.edu 37 6 29274980 29274980 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:29274980A>G uc011dln.1 + 1 514 c.514A>G c.(514-516)ATT>GTT p.I172V NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAAGAGAGTCATTCACCAATT 0.478 NA 42 90 0 0 0 0 HLA-G 3135 broad.mit.edu 37 6 29796372 29796372 + Silent SNP C C T rs141841160 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:29796372C>T uc003nnw.2 + 4 574 c.396C>T c.(394-396)CGC>CGT p.R132R HLA-G_uc011dmb.1_Silent_p.R104R|HLA-G_uc003raj.3_Silent_p.R137R|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 132 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 CCGACGGACGCCTCCTCCGCG 0.672 NA 23 83 0 0 0 0 TRIM26 7726 broad.mit.edu 37 6 30154334 30154334 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:30154334C>T uc003npr.2 - 9 1148 c.939G>A c.(937-939)GTG>GTA p.V313V TRIM26_uc003nps.2_Silent_p.V313V|TRIM26_uc010jry.2_Silent_p.V43V|TRIM26_uc003npt.2_Silent_p.V313V NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 313 B30.2/SPRY. DNA binding|zinc ion binding ovary(2)|lung(1) 3 GGGTGACGCTCACTGTGGGGA 0.468 NA 15 41 0 0 0 0 AGPAT1 10554 broad.mit.edu 37 6 32137994 32137994 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:32137994C>G uc003oae.2 - 5 872 c.554G>C c.(553-555)GGC>GCC p.G185A PPT2_uc003nzy.1_Intron|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.G149A|AGPAT1_uc003oaf.2_Missense_Mutation_p.G185A|AGPAT1_uc003oag.2_Missense_Mutation_p.G75A|AGPAT1_uc003oah.2_Missense_Mutation_p.G185A|AGPAT1_uc003oai.1_Missense_Mutation_p.G185A|AGPAT1_uc011dpl.1_Missense_Mutation_p.G73A NM_006411 NP_006402 Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 185 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1) 1 CAGCATGGAGCCATTGTGGTT 0.537 NA 7 12 0 0 0 0 FTSJD2 23070 broad.mit.edu 37 6 37411845 37411845 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:37411845C>T uc003ons.2 + 3 457 c.204C>T c.(202-204)GAC>GAT p.D68D FTSJD2_uc010jwu.2_Silent_p.D68D NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 68 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 ACTCTTTTGACGATGCATTCA 0.433 NA 40 52 0 0 0 0 TTBK1 84630 broad.mit.edu 37 6 43214425 43214425 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:43214425G>A uc003ouq.1 + 2 306 c.27G>A c.(25-27)AAG>AAA p.K9K NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 9 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCGCCCTTAAGGACGAAACCA 0.672 NA 10 34 0 0 0 0 PHIP 55023 broad.mit.edu 37 6 79655871 79655871 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:79655871G>C uc003pir.2 - 38 4703 c.4477C>G c.(4477-4479)CAG>GAG p.Q1493E PHIP_uc003piq.2_Missense_Mutation_p.Q517E|PHIP_uc011dyp.1_Missense_Mutation_p.Q1492E|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.Q379E NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1493 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CCGTTTATCTGAGCAGCATTG 0.433 NA 7 89 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112465999 112465999 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:112465999G>C uc003pvu.2 - 19 2799 c.2490C>G c.(2488-2490)AGC>AGG p.S830R LAMA4_uc003pvv.2_Missense_Mutation_p.S823R|LAMA4_uc003pvt.2_Missense_Mutation_p.S823R NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 830 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGTTACCTTGCTGGCAACAC 0.512 NA 21 82 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129635848 129635848 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:129635848G>A uc003qbn.2 + 24 3565 c.3460G>A c.(3460-3462)GGA>AGA p.G1154R LAMA2_uc003qbo.2_Missense_Mutation_p.G1154R NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1154 Laminin EGF-like 13. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGCAAATTCGGACTCGATGC 0.527 NA 9 37 0 0 0 0 TCF21 6943 broad.mit.edu 37 6 134210544 134210544 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:134210544C>T uc003qei.3 + 1 285 c.9C>T c.(7-9)ACC>ACT p.T3T uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.T3T NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 3 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) ACATGTCCACCGGCTCCCTCA 0.338 NA 14 91 0 0 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582563 136582563 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:136582563C>T uc003qgx.1 - 12 2850 c.2597G>A c.(2596-2598)CGT>CAT p.R866H BCLAF1_uc011edb.1_Missense_Mutation_p.R145H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R693H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R815H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R864H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 866 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AAAAGTACCACGACCTCTTCC 0.408 NA 25 227 0 0 0 0 SHPRH 257218 broad.mit.edu 37 6 146245960 146245960 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:146245960T>A uc003qlf.2 - 17 3716 c.3317A>T c.(3316-3318)TAC>TTC p.Y1106F SHPRH_uc003qld.2_Missense_Mutation_p.Y1115F|SHPRH_uc003qle.2_Missense_Mutation_p.Y1115F|SHPRH_uc003qlg.1_Missense_Mutation_p.Y662F|SHPRH_uc003qlh.2_Missense_Mutation_p.Y31F|SHPRH_uc003qli.1_Missense_Mutation_p.Y31F NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1106 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CTTGCTCATGTAGTGCTCTCG 0.408 NA 23 59 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152763311 152763311 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:152763311C>T uc010kiw.2 - 31 4509 c.3907G>A c.(3907-3909)GAA>AAA p.E1303K SYNE1_uc003qot.3_Missense_Mutation_p.E1310K|SYNE1_uc003qou.3_Missense_Mutation_p.E1303K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1286K|SYNE1_uc003qow.2_Missense_Mutation_p.E598K|SYNE1_uc003qox.1_Missense_Mutation_p.E819K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1303 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCCCCCCTTCTCCCTGCTGC 0.582 NA HNSCC(10;0.0054) 18 60 0 0 0 0 CYP2W1 54905 broad.mit.edu 37 7 1026752 1026752 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:1026752C>T uc003sjq.1 + 6 842 c.829C>T c.(829-831)CCC>TCC p.P277S CYP2W1_uc003sjr.1_Missense_Mutation_p.P277S NM_017781 NP_060251 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, 277 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GGGGGATGACCCCGAGGGCCT 0.692 NA 5 7 0 0 0 0 RADIL 55698 broad.mit.edu 37 7 4856042 4856042 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:4856042G>A uc003snj.1 - 8 1956 c.1783C>T c.(1783-1785)CGC>TGC p.R595C RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.R100C|RADIL_uc011jwc.1_Missense_Mutation_p.R355C|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 595 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CTCTCACGGCGCTCCGTCTGG 0.677 NA 4 15 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21646281 21646281 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:21646281T>C uc003svc.2 + 20 3813 c.3782T>C c.(3781-3783)TTC>TCC p.F1261S NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1261 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CAGGCAGAGTTCAGAGAGAGA 0.338 NA Kartagener_syndrome 3 10 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82579179 82579179 + Silent SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:82579179T>A uc003uhx.2 - 6 11014 c.10725A>T c.(10723-10725)ACA>ACT p.T3575T PCLO_uc003uhv.2_Silent_p.T3575T|PCLO_uc010lec.2_Silent_p.T540T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3506 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAGGACTTTGTGTGTCTGAAT 0.438 NA 18 48 0 0 0 0 LMTK2 22853 broad.mit.edu 37 7 97832936 97832936 + Silent SNP G G A rs146973469 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:97832936G>A uc003upd.1 + 12 4451 c.4158G>A c.(4156-4158)CCG>CCA p.P1386P NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 1386 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CGTGCGGCCCGGACCTGAGCG 0.597 NA 11 26 0 0 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97935815 97935815 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:97935815G>A uc003upj.2 - 11 1440 c.1177C>T c.(1177-1179)CCG>TCG p.P393S uc003upk.1_5'Flank NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 393 SH3. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TACGACGACGGGAACCAACCC 0.572 NA 25 71 0 0 0 0 PUS7 54517 broad.mit.edu 37 7 105098338 105098338 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:105098338G>C uc003vcx.2 - 16 2104 c.1885C>G c.(1885-1887)CTA>GTA p.L629V PUS7_uc010lji.2_Missense_Mutation_p.L635V|PUS7_uc003vcy.2_Missense_Mutation_p.L629V|PUS7_uc003vcz.1_Missense_Mutation_p.L629V NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 629 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 GAAGGGGGTAGAGAAAAATCC 0.473 NA 32 88 0 0 0 0 COG5 10466 broad.mit.edu 37 7 107204296 107204296 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:107204296G>C uc003ved.2 - 1 664 c.139C>G c.(139-141)CGA>GGA p.R47G COG5_uc003vec.2_Missense_Mutation_p.R47G|COG5_uc003vee.2_Missense_Mutation_p.R47G|DUS4L_uc003veg.2_5'Flank|DUS4L_uc003veh.2_5'Flank|DUS4L_uc011klw.1_5'Flank|DUS4L_uc011klx.1_5'Flank NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 47 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 CCAGAGCCTCGAGCTCCGAGG 0.667 NA 28 50 0 0 0 0 CBLL1 79872 broad.mit.edu 37 7 107398754 107398754 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:107398754G>A uc003veq.2 + 6 937 c.607G>A c.(607-609)GAA>AAA p.E203K CBLL1_uc011kme.1_Missense_Mutation_p.E82K|CBLL1_uc011kmf.1_Missense_Mutation_p.E202K NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 203 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 TGCTTCACTTGAAAATGTTCA 0.458 NA 57 125 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432019 117432019 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:117432019G>C uc003vjf.2 - 4 1323 c.1231C>G c.(1231-1233)CAA>GAA p.Q411E NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 411 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCTGGTGTTTGAGCGGTGGGA 0.522 NA 34 115 0 0 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635216 122635216 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:122635216T>C uc003vkl.1 - 1 539 c.473A>G c.(472-474)GAG>GGG p.E158G NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 158 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 TGGTAGATGCTCCATGGTGAG 0.383 NA 13 46 0 0 0 0 JHDM1D 80853 broad.mit.edu 37 7 139796488 139796488 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:139796488G>A uc003vvm.2 - 17 2245 c.2241C>T c.(2239-2241)TCC>TCT p.S747S JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 747 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) GTAAACACGTGGAATAGTGCA 0.483 NA 23 64 0 0 0 0 OR9A4 130075 broad.mit.edu 37 7 141619579 141619579 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:141619579C>T uc003vwu.1 + 1 904 c.904C>T c.(904-906)CGG>TGG p.R302W NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) AGAGGCCCTTCGGGATGGGGT 0.423 NA 21 70 0 0 0 0 EPHB6 2051 broad.mit.edu 37 7 142566409 142566409 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:142566409G>A uc011kst.1 + 15 2985 c.2198G>A c.(2197-2199)CGG>CAG p.R733Q EPHB6_uc011ksu.1_Missense_Mutation_p.R733Q|EPHB6_uc003wbs.2_Missense_Mutation_p.R441Q|EPHB6_uc003wbt.2_Missense_Mutation_p.R207Q|EPHB6_uc003wbu.2_Missense_Mutation_p.R441Q|EPHB6_uc003wbv.2_Missense_Mutation_p.R117Q NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 733 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) AACATCCTGCGGCTGGAGGGC 0.677 NA 21 36 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336299 147336299 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:147336299G>A uc003weu.1 + 13 2515 c.1999G>A c.(1999-2001)GCC>ACC p.A667T NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 667 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.A667T(1) ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGTTTACAGCGCCTCCATGGA 0.502 NA HNSCC(39;0.1) 18 49 0 0 0 0 C7orf33 202865 broad.mit.edu 37 7 148288041 148288041 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:148288041C>G uc003wew.2 + 1 385 c.24C>G c.(22-24)CTC>CTG p.L8L NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 8 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TTCAAAGCCTCAGCCTTGAAG 0.537 NA 10 65 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35583721 35583721 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:35583721G>A uc003xjr.1 + 10 1683 c.1355G>A c.(1354-1356)CGG>CAG p.R452Q UNC5D_uc003xjs.1_Missense_Mutation_p.R447Q|UNC5D_uc003xju.1_Missense_Mutation_p.R28Q|UNC5D_uc003xjt.1_Missense_Mutation_p.R210Q NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 452 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ACAGTGAGCCGGACATACAGC 0.488 NA 59 62 0 0 0 0 KCNU1 157855 broad.mit.edu 37 8 36671785 36671785 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:36671785G>A uc010lvw.2 + 8 880 c.793G>A c.(793-795)GAG>AAG p.E265K KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 265 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATCATATTTTGAGTCAATTTA 0.418 NA 17 18 0 0 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38810819 38810819 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:38810819G>T uc003xmi.3 + 9 941 c.707G>T c.(706-708)CGA>CTA p.R236L PLEKHA2_uc011lce.1_Missense_Mutation_p.R186L NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A 236 PH 2. positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding 0 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) CACCAGGACCGAGAACCACTG 0.463 NA 87 224 2.17e-41 2.5e-41 1 0 CPA6 57094 broad.mit.edu 37 8 68334861 68334861 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:68334861C>T uc003xxq.3 - 11 1448 c.1192G>A c.(1192-1194)GAA>AAA p.E398K CPA6_uc003xxr.3_Missense_Mutation_p.E154K NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 398 Nucleophile (By similarity). proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TCACGTAGTTCGAAAGCAAAT 0.383 NA 38 94 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121290786 121290786 + Silent SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:121290786G>C uc003yox.2 + 28 3715 c.3450G>C c.(3448-3450)GTG>GTC p.V1150V COL14A1_uc003yoz.2_Silent_p.V115V NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1150 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAGATGATGTGAACAAAATCT 0.353 NA 18 18 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144998292 144998292 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:144998292C>T uc003zaf.1 - 31 6386 c.6216G>A c.(6214-6216)GAG>GAA p.E2072E PLEC_uc003zab.1_Silent_p.E1935E|PLEC_uc003zac.1_Silent_p.E1939E|PLEC_uc003zad.2_Silent_p.E1935E|PLEC_uc003zae.1_Silent_p.E1903E|PLEC_uc003zag.1_Silent_p.E1913E|PLEC_uc003zah.2_Silent_p.E1921E|PLEC_uc003zaj.2_Silent_p.E1962E NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2072 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGGCCGCCTTCTCGAAGCTCG 0.701 NA 15 28 0 0 0 0 GLIS3 169792 broad.mit.edu 37 9 3937164 3937164 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:3937164G>A uc003zhw.1 - 4 1465 c.1271C>T c.(1270-1272)TCA>TTA p.S424L GLIS3_uc003zhx.1_Missense_Mutation_p.S579L|GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.S357L|GLIS3_uc003zhz.1_Missense_Mutation_p.S357L NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 424 C2H2-type 3. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TTCAAGCCTTGAAAAGGCCTT 0.458 NA 9 69 0 0 0 0 FREM1 158326 broad.mit.edu 37 9 14848678 14848678 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:14848678C>A uc003zlm.2 - 7 1836 c.1246G>T c.(1246-1248)GTA>TTA p.V416L FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 416 CSPG 2. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TTCCAGGATACACGGGGGGCA 0.373 NA 19 42 1.28e-07 1.43e-07 1 0 UNC13B 10497 broad.mit.edu 37 9 35385812 35385812 + Splice_Site SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:35385812T>C uc003zwq.2 + 22 3010 c.2718_splice c.e22+2 p.K906_splice UNC13B_uc003zwr.2_Splice_Site_p.K906_splice NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGAATGAAGGTAAGAAATGGA 0.483 NA 27 97 0 0 0 0 UNC13B 10497 broad.mit.edu 37 9 35403456 35403456 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:35403456C>T uc003zwq.2 + 38 4642 c.4350C>T c.(4348-4350)CTC>CTT p.L1450L UNC13B_uc003zwr.2_Silent_p.L1469L NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1450 C2 3. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCAATGACCTCAAGTGGCAGA 0.532 NA 27 47 0 0 0 0 RGP1 9827 broad.mit.edu 37 9 35750328 35750328 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:35750328C>A uc011lpf.1 + 3 346 c.205C>A c.(205-207)CAG>AAG p.Q69K GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.Q109K NM_001080496 NP_001073965 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog 69 ovary(1) 1 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGACTCTAGTCAGCCAGATGT 0.612 NA 9 31 9.05e-12 1.02e-11 1 0 VPS13A 23230 broad.mit.edu 37 9 79910535 79910535 + Silent SNP T T G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:79910535T>G uc004akr.2 + 33 3845 c.3585T>G c.(3583-3585)ACT>ACG p.T1195T VPS13A_uc004akp.3_Silent_p.T1195T|VPS13A_uc004akq.3_Silent_p.T1195T|VPS13A_uc004aks.2_Silent_p.T1156T|VPS13A_uc010mpo.1_5'UTR NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1195 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TGGCTGCTACTGGTGTAAAAG 0.433 NA 9 50 0 0 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88307677 88307677 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:88307677G>C uc011ltd.1 - 2 117 c.84C>G c.(82-84)ATC>ATG p.I28M AGTPBP1_uc010mqc.2_Missense_Mutation_p.I28M|AGTPBP1_uc011lte.1_Missense_Mutation_p.I80M NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 28 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 GCTCAGCATTGATCTTCTCCA 0.388 NA 6 25 0 0 0 0 SLC31A1 1317 broad.mit.edu 37 9 116028637 116028637 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:116028637A>G uc004bgv.3 + 6 716 c.530A>G c.(529-531)GAG>GGG p.E177G FKBP15_uc010muu.1_Intron NM_001859 NP_001850 O15431 COPT1_HUMAN solute carrier family 31 (copper transporters), Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to plasma membrane copper ion transmembrane transporter activity 0 ATGATTCAAGAGGCTCTTATG 0.333 NA 4 5 0 0 0 0 AMBP 259 broad.mit.edu 37 9 116823771 116823771 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:116823771G>A uc004bie.3 - 8 1049 c.786C>T c.(784-786)GGC>GGT p.G262G AMBP_uc011lxk.1_Silent_p.G203G|AMBP_uc010mvc.1_RNA NM_001633 NP_001624 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin preproprotein 262 BPTI/Kunitz inhibitor 1. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity skin(1) 1 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CCATGCAGCCGCCGTACTGGA 0.577 NA 24 86 0 0 0 0 DFNB31 25861 broad.mit.edu 37 9 117266938 117266938 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:117266938C>T uc004biz.3 - 1 793 c.144G>A c.(142-144)GCG>GCA p.A48A DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.A48A|DFNB31_uc004bjb.2_Silent_p.A48A NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 48 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 CGCTCAGCAGCGCGGTCAGCG 0.567 NA 8 33 0 0 0 0 RABGAP1 23637 broad.mit.edu 37 9 125861042 125861042 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:125861042A>T uc011lzh.1 + 23 2916 c.2782A>T c.(2782-2784)AAA>TAA p.K928* RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Nonsense_Mutation_p.K267* NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 928 Potential. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 ATCTGAGATTAAAAAAAACAG 0.398 NA 10 30 0 0 0 0 ZNF79 7633 broad.mit.edu 37 9 130206706 130206706 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:130206706C>T uc004bqw.3 + 5 1141 c.727C>T c.(727-729)CAC>TAC p.H243Y ZNF79_uc011maf.1_Missense_Mutation_p.H219Y|ZNF79_uc011mag.1_Missense_Mutation_p.H219Y NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 243 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CCAGAGGATTCACACTGGAGA 0.537 NA 15 59 0 0 0 0 SLC27A4 10999 broad.mit.edu 37 9 131115719 131115719 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:131115719G>A uc004but.2 + 9 1507 c.1223G>A c.(1222-1224)CGC>CAC p.R408H SLC27A4_uc004buu.2_Intron NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 408 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 TTCAATAGCCGCATCCTGTCC 0.617 NA 4 91 0 0 0 0 RALGDS 5900 broad.mit.edu 37 9 135984211 135984211 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:135984211C>T uc004cco.2 - 5 647 c.627G>A c.(625-627)TCG>TCA p.S209S RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.S197S|RALGDS_uc004ccr.2_Silent_p.S208S|RALGDS_uc011mcv.1_Silent_p.S180S|RALGDS_uc004ccs.2_Silent_p.S154S|RALGDS_uc011mcw.1_Silent_p.S280S|RALGDS_uc004ccv.1_5'UTR|RALGDS_uc004ccu.1_5'UTR NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 209 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGAAATCCTCCGAGTACTGGT 0.647 NA T CIITA PMBL|Hodgkin Lymphona| 5 33 0 0 0 0 MXRA5 25878 broad.mit.edu 37 X 3241681 3241681 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:3241681C>T uc004crg.3 - 5 2202 c.2045G>A c.(2044-2046)CGC>CAC p.R682H NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 682 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCACCTGGGCGTCTGCCTCT 0.532 NA 27 71 0 0 0 0 KAL1 3730 broad.mit.edu 37 X 8522000 8522000 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:8522000C>G uc004csf.2 - 9 1497 c.1347G>C c.(1345-1347)AAG>AAC p.K449N NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 449 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 TACCTTCTGTCTTCTTCCAGT 0.413 NA 5 21 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31986549 31986549 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:31986549G>C uc004dda.1 - 45 6765 c.6521C>G c.(6520-6522)TCA>TGA p.S2174* DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Nonsense_Mutation_p.S830*|DMD_uc004dcx.2_Nonsense_Mutation_p.S833*|DMD_uc004dcz.2_Nonsense_Mutation_p.S2051*|DMD_uc004dcy.1_Nonsense_Mutation_p.S2170*|DMD_uc004ddb.1_Nonsense_Mutation_p.S2166*|DMD_uc010ngo.1_Nonsense_Mutation_p.S83*|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2174 Spectrin 15. 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) ATCTGTTTTTGAGGATTGCTG 0.458 NA 23 72 0 0 0 0 CFP 5199 broad.mit.edu 37 X 47486681 47486681 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:47486681A>G uc004dig.3 - 5 751 c.625T>C c.(625-627)TGC>CGC p.C209R CFP_uc004dih.2_Missense_Mutation_p.C209R|CFP_uc004dii.1_Missense_Mutation_p.C145R|CFP_uc010nhu.2_Missense_Mutation_p.C209R NM_001145252 NP_001138724 P27918 PROP_HUMAN complement factor properdin precursor 209 TSP type-1 3. complement activation, alternative pathway|defense response to bacterium extracellular space breast(2)|lung(1) 3 CCACCGTGGCAGGAGGCTGAG 0.667 NA 3 14 0 0 0 0 ZNF630 57232 broad.mit.edu 37 X 47918145 47918145 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:47918145C>G uc004div.3 - 5 1938 c.1686G>C c.(1684-1686)CAG>CAC p.Q562H ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.Q438H NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 562 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TATGACCTCTCTGATGTAGAA 0.448 NA 10 11 0 0 0 0 WAS 7454 broad.mit.edu 37 X 48542320 48542320 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:48542320C>G uc004dkm.3 + 1 135 c.78C>G c.(76-78)CTC>CTG p.L26L NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 26 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) CCTCCACCCTCCTCCAGGACC 0.607 NA Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome 16 50 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79980467 79980467 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:79980467C>T uc004edt.2 - 15 1749 c.1486G>A c.(1486-1488)GAC>AAC p.D496N BRWD3_uc004edo.2_Missense_Mutation_p.D92N|BRWD3_uc004edp.2_Missense_Mutation_p.D325N|BRWD3_uc004edq.2_Missense_Mutation_p.D92N|BRWD3_uc010nmj.1_Missense_Mutation_p.D92N|BRWD3_uc004edr.2_Missense_Mutation_p.D166N|BRWD3_uc004eds.2_Missense_Mutation_p.D92N|BRWD3_uc004edu.2_Missense_Mutation_p.D166N|BRWD3_uc004edv.2_Missense_Mutation_p.D92N|BRWD3_uc004edw.2_Missense_Mutation_p.D92N|BRWD3_uc004edx.2_Missense_Mutation_p.D92N|BRWD3_uc004edy.2_Missense_Mutation_p.D92N|BRWD3_uc004edz.2_Missense_Mutation_p.D166N|BRWD3_uc004eea.2_Missense_Mutation_p.D166N|BRWD3_uc004eeb.2_Missense_Mutation_p.D92N NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 496 WD 8. ovary(4) 4 GTCCCCCGGTCAAGGTCCCAA 0.388 NA 8 14 0 0 0 0 ZNF711 7552 broad.mit.edu 37 X 84525039 84525039 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:84525039G>C uc004eeo.2 + 8 1342 c.995G>C c.(994-996)AGA>ACA p.R332T ZNF711_uc004eep.2_Missense_Mutation_p.R332T|ZNF711_uc004eeq.2_Missense_Mutation_p.R378T|ZNF711_uc011mqy.1_5'UTR NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 332 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 TTAGAAAGCAGAAGTAGTACA 0.333 NA 8 30 0 0 0 0 ZNF449 203523 broad.mit.edu 37 X 134494925 134494925 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:134494925C>T uc004eys.2 + 5 1646 c.1481C>T c.(1480-1482)ACT>ATT p.T494I ZNF449_uc004eyt.2_Missense_Mutation_p.T374I|ZNF449_uc004eyu.2_Missense_Mutation_p.T300I NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 494 C2H2-type 7. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TACAAGTGTACTCATTGTTCT 0.393 NA 92 135 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135431707 135431707 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:135431707A>T uc004ezu.1 + 6 6133 c.5842A>T c.(5842-5844)AAC>TAC p.N1948Y GPR112_uc010nsb.1_Missense_Mutation_p.N1743Y|GPR112_uc010nsc.1_Missense_Mutation_p.N1715Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1948 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AATTCTTCCTAACCATGGGCT 0.418 NA 6 147 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995473 140995473 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:140995473G>A uc004fbt.2 + 4 2569 c.2283G>A c.(2281-2283)GAG>GAA p.E761E MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 761 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GTTTCCCTGAGAGTCCTCAGA 0.542 NA HNSCC(15;0.026) 82 238 0 0 0 0 CDK4 1019 broad.mit.edu 37 12 58145367 58145369 + In_Frame_Del DEL CCT CCT - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:58145367_58145369delCCT uc001spv.2 - 2 359_361 c.132_134delAGG c.(130-135)GGAGGT>GGT p.44_45GG>G CDK4_uc010ssb.1_5'UTR|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank NM_000075 NP_000066 P11802 CDK4_HUMAN cyclin-dependent kinase 4 44_45 Poly-Gly.|Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1)|breast(1)|central_nervous_system(1) 3 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GCCTCCTCCACCTCCTCCTCCAT 0.567 NA Mis melanoma Hereditary_Melanoma 20 68 --- --- --- --- NA NA NA NA MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:121134166_121134168delGAA uc001tyy.1 + 5 848_850 c.697_699delGAA c.(697-699)GAAdel p.E238del NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 238 Poly-Glu.|Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 gaaagaagaggaagaagaagaag 0.404 NA 7 200 --- --- --- --- NA NA NA NA MAP1A 4130 broad.mit.edu 37 15 43820775 43820775 + Frame_Shift_Del DEL C C - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:43820775delC uc001zrt.2 + 4 7571 c.7104delC c.(7102-7104)AACfs p.N2368fs NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2368 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCAGCCCTAACCCCCCAGGCC 0.642 NA 12 38 --- --- --- --- NA NA NA NA TRIM65 201292 broad.mit.edu 37 17 73888194 73888194 + Frame_Shift_Del DEL G G - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:73888194delG uc002jpx.2 - 4 853 c.817delC c.(817-819)CTGfs p.L273fs NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 273 intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGTCACCCAGCTGTTGGTCT 0.632 NA 2 4 --- --- --- --- NA NA NA NA ROCK2 9475 broad.mit.edu 37 2 11389837 11389837 + Frame_Shift_Del DEL A A - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:11389837delA uc002rbd.1 - 4 861 c.412delT c.(412-414)TGGfs p.W138fs NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 138 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity p.W138fs*31(1) stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTTTCTTCCCAAAAAAAGGCA 0.358 NA 32 118 --- --- --- --- NA NA NA NA PMS1 5378 broad.mit.edu 37 2 190660652 190660653 + Frame_Shift_Ins INS - - G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:190660652_190660653insG uc002urh.3 + 3 819_820 c.290_291insG c.(289-291)TTGfs p.L97fs PMS1_uc010zga.1_Frame_Shift_Ins_p.L97fs|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Frame_Shift_Ins_p.L97fs|PMS1_uc002uri.3_Frame_Shift_Ins_p.L97fs|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Frame_Shift_Ins_p.L97fs|PMS1_uc010frz.2_Frame_Shift_Ins_p.L97fs|PMS1_uc010zfz.1_Frame_Shift_Ins_p.L97fs NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 97 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GGAGAAGCCTTGGGGTCAATTT 0.342 NA Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 35 84 --- --- --- --- NA NA NA NA PARL 55486 broad.mit.edu 37 3 183551318 183551318 + Frame_Shift_Del DEL A A - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:183551318delA uc003fmd.2 - 9 1049 c.990delT c.(988-990)TTTfs p.F330fs PARL_uc003fme.2_Frame_Shift_Del_p.F280fs NM_018622 NP_061092 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like isoform 1 330 Mitochondrial matrix (Potential). proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity 0 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCGCATGATCAAAAAATTTCC 0.473 NA 25 59 --- --- --- --- NA NA NA NA MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:76599857_76599858insA uc003pih.1 + 26 3021_3022 c.2742_2743insA c.(2740-2745)CAGAAAfs p.Q914fs MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 914_915 Potential. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 NA 7 66 --- --- --- --- NA NA NA NA