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 HSPG2 3339 broad.mit.edu 37 1 22199894 22199894 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:22199894T>C uc001bfj.2 - 30 3807 c.3767A>G c.(3766-3768)AAC>AGC p.N1256S HSPG2_uc009vqd.2_Missense_Mutation_p.N1257S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 1256 Laminin EGF-like 7. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTGGCTGGGGTTGCCATAGTA 0.587 NA 17 95 0 0 0 0 COL16A1 1307 broad.mit.edu 37 1 32154663 32154663 + Silent SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:32154663G>T uc001btk.1 - 24 2009 c.1644C>A c.(1642-1644)ATC>ATA p.I548I COL16A1_uc001btj.1_Silent_p.I377I|COL16A1_uc001btl.3_Silent_p.I548I NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 548 Triple-helical region 8 (COL8) with 1 imperfection. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TCTCTCCTTTGATGCCTTGGA 0.592 NA 34 72 3.66e-26 1.31e-25 1 0 INADL 10207 broad.mit.edu 37 1 62293185 62293185 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:62293185G>A uc001dab.2 + 16 2024 c.1910G>A c.(1909-1911)CGG>CAG p.R637Q INADL_uc009waf.1_Missense_Mutation_p.R637Q|INADL_uc001daa.2_Missense_Mutation_p.R637Q|INADL_uc001dad.3_Missense_Mutation_p.R334Q|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 637 PDZ 4. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GTTTGCTGTCGGAGGTTGTTT 0.443 NA 40 129 0 0 0 0 L1TD1 54596 broad.mit.edu 37 1 62672650 62672650 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:62672650G>A uc001dae.3 + 3 652 c.350G>A c.(349-351)GGG>GAG p.G117E NM_019079 NP_061952 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 117 ovary(1)|skin(1) 2 gggatggtagggaaaatagaa 0.05 NA 17 78 0 0 0 0 ALG6 29929 broad.mit.edu 37 1 63879798 63879798 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:63879798C>A uc010oow.1 + 10 1188 c.883C>A c.(883-885)CAC>AAC p.H295N ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_Intron|ALG6_uc010oox.1_Missense_Mutation_p.H94N NM_013339 NP_037471 Q9Y672 ALG6_HUMAN dolichyl pyrophosphate Man9GlcNAc2 295 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity 0 TTTGCCACGTCACATCCAATT 0.269 NA 18 41 6.94e-10 2.33e-09 1 0 ECM1 1893 broad.mit.edu 37 1 150485926 150485926 + Missense_Mutation SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:150485926G>C uc001eus.2 + 10 1805 c.1606G>C c.(1606-1608)GAG>CAG p.E536Q ECM1_uc001eut.2_Missense_Mutation_p.E411Q|ECM1_uc001euu.2_Missense_Mutation_p.E565Q|ECM1_uc001euv.2_Missense_Mutation_p.E563Q|ECM1_uc009wlu.2_Missense_Mutation_p.E296Q NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 536 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTCCACCTCTGAGCCCAAGGA 0.562 NA 4 48 0 0 0 0 TRIM46 80128 broad.mit.edu 37 1 155152365 155152365 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:155152365G>A uc001fhs.1 + 8 1626 c.1543G>A c.(1543-1545)GGC>AGC p.G515S RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.G515S|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.G389S|TRIM46_uc001fhu.1_Missense_Mutation_p.G492S|TRIM46_uc009wpg.1_Missense_Mutation_p.G502S|TRIM46_uc001fhv.3_Missense_Mutation_p.G502S|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 515 Fibronectin type-III. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGCCGGCTACGGCGAATACAG 0.657 NA 13 34 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181767596 181767596 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:181767596G>A uc001gow.2 + 47 6604 c.6439G>A c.(6439-6441)GAG>AAG p.E2147K CACNA1E_uc009wxs.2_Missense_Mutation_p.E2035K|CACNA1E_uc009wxt.2_Missense_Mutation_p.E1416K NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2190 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TGATGGAAGCGAGGAGGGCTC 0.642 NA 23 50 0 0 0 0 PROX1 5629 broad.mit.edu 37 1 214171226 214171226 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:214171226C>A uc001hkh.2 + 2 1620 c.1348C>A c.(1348-1350)CAG>AAG p.Q450K PROX1_uc001hkg.1_Missense_Mutation_p.Q450K NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 450 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTCCTCTGACCAGTCTGCCTC 0.642 NA 32 71 6.39e-12 2.19e-11 1 0 OBSCN 84033 broad.mit.edu 37 1 228437860 228437860 + Nonsense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:228437860C>T uc009xez.1 + 14 4272 c.4228C>T c.(4228-4230)CAG>TAG p.Q1410* OBSCN_uc001hsn.2_Nonsense_Mutation_p.Q1410* NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1410 Ig-like 14. 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) GCTGGTGGTGCAGCAGGCATG 0.647 NA 41 92 0 0 0 0 CEP170 9859 broad.mit.edu 37 1 243333053 243333053 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:243333053C>T uc001hzs.2 - 12 2128 c.1720G>A c.(1720-1722)GGC>AGC p.G574S CEP170_uc001hzt.2_Missense_Mutation_p.G476S|CEP170_uc001hzu.2_Missense_Mutation_p.G476S NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 574 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GAAGATGTGCCTTCCTAAAGG 0.383 NA 6 20 0 0 0 0 NLRP3 114548 broad.mit.edu 37 1 247588449 247588449 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:247588449C>T uc001icr.2 + 5 1842 c.1704C>T c.(1702-1704)TTC>TTT p.F568F NLRP3_uc001ics.2_Silent_p.F568F|NLRP3_uc001icu.2_Silent_p.F568F|NLRP3_uc001icw.2_Silent_p.F568F|NLRP3_uc001icv.2_Silent_p.F568F|NLRP3_uc010pyw.1_Silent_p.F566F|NLRP3_uc001ict.1_Silent_p.F566F NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 568 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATGGCAAATTCGAAAAGGGGT 0.463 NA 16 34 0 0 0 0 DRGX 644168 broad.mit.edu 37 10 50594749 50594749 + Missense_Mutation SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:50594749C>G uc010qgq.1 - 4 405 c.405G>C c.(403-405)AAG>AAC p.K135N NM_001080520 NP_001073989 A6NNA5 DRGX_HUMAN dorsal root ganglia homeobox 135 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCAGCGCCTCCTTCTTACTCC 0.642 NA 20 33 0 0 0 0 AGAP7 653268 broad.mit.edu 37 10 51464881 51464881 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:51464881G>A uc001jio.2 - 7 1701 c.1575C>T c.(1573-1575)AGC>AGT p.S525S PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 525 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 TCCGCCCCTGGCTGCTCCCTT 0.537 NA 6 193 0 0 0 0 PRF1 5551 broad.mit.edu 37 10 72358804 72358804 + Missense_Mutation SNP G G A rs28933973 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:72358804G>A uc009xqg.2 - 3 834 c.673C>T c.(673-675)CGG>TGG p.R225W PRF1_uc001jrf.3_Missense_Mutation_p.R225W NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 225 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TCCACAGCCCGGATGAAGTGG 0.657 NA M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 13 35 0 0 0 0 TMEM180 79847 broad.mit.edu 37 10 104229810 104229810 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:104229810C>A uc001kvt.2 + 4 448 c.229C>A c.(229-231)CAG>AAG p.Q77K TMEM180_uc001kvs.2_Missense_Mutation_p.Q77K|TMEM180_uc010qql.1_5'UTR|TMEM180_uc010qqm.1_Missense_Mutation_p.Q77K|TMEM180_uc001kvu.2_Missense_Mutation_p.Q77K NM_024789 NP_079065 Q14CX5 TM180_HUMAN transmembrane protein 180 77 integral to membrane ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAGTGACCGGCAGTTCCTCAG 0.592 NA 20 20 1.38e-19 4.89e-19 1 0 CDHR5 53841 broad.mit.edu 37 11 621590 621590 + Missense_Mutation SNP A A C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:621590A>C uc001lqj.2 - 5 584 c.479T>G c.(478-480)CTG>CGG p.L160R CDHR5_uc001lqk.2_Missense_Mutation_p.L160R|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.L160R|CDHR5_uc001lql.2_Missense_Mutation_p.L160R|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.L129R NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 160 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GGTGTAGAACAGAATGTCGTC 0.647 NA 23 73 0 0 0 0 CPT1A 1374 broad.mit.edu 37 11 68562283 68562283 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:68562283C>T uc001oog.3 - 8 1038 c.868G>A c.(868-870)GAA>AAA p.E290K CPT1A_uc001oof.3_Missense_Mutation_p.E290K|CPT1A_uc009ysj.2_Missense_Mutation_p.E290K NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 290 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GGTTTGATTTCCTCCCGGTCC 0.328 NA 32 66 0 0 0 0 ABCG4 64137 broad.mit.edu 37 11 119029297 119029297 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:119029297G>A uc001pvs.2 + 11 1534 c.1198G>A c.(1198-1200)GTG>ATG p.V400M ABCG4_uc009zar.2_Missense_Mutation_p.V400M NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 400 ABC transmembrane type-2.|Helical; Name=1; (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CATGTCCCACGTGGTTATTGG 0.562 NA 57 156 0 0 0 0 CBL 867 broad.mit.edu 37 11 119169109 119169109 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:119169109G>A uc001pwe.2 + 15 2431 c.2293G>A c.(2293-2295)GAG>AAG p.E765K NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 765 Interaction with CD2AP.|Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CACTGGTCCCGAGGAGTCAGA 0.507 NA CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 14 64 0 0 0 0 OR6T1 219874 broad.mit.edu 37 11 123813951 123813951 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:123813951C>A uc010sab.1 - 1 595 c.595G>T c.(595-597)GCT>TCT p.A199S NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AGCATGAAAGCCACCAGTTTC 0.547 NA 23 45 2.22e-12 7.63e-12 1 0 VWA5A 4013 broad.mit.edu 37 11 123993788 123993788 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:123993788C>T uc001pzu.2 + 8 1091 c.882C>T c.(880-882)AGC>AGT p.S294S VWA5A_uc001pzr.2_Silent_p.S294S|VWA5A_uc001pzs.2_Silent_p.S294S|VWA5A_uc010sae.1_Silent_p.S310S|VWA5A_uc001pzt.2_Silent_p.S294S NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 294 VWFA. upper_aerodigestive_tract(1)|ovary(1) 2 GTATGCAGAGCCCCATGAGTA 0.463 NA 7 21 0 0 0 0 SYT10 341359 broad.mit.edu 37 12 33559823 33559823 + Silent SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:33559823T>C uc001rll.1 - 3 1275 c.978A>G c.(976-978)AGA>AGG p.R326R SYT10_uc009zju.1_Silent_p.R136R NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 326 Cytoplasmic (Potential).|C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TCATGTCATGTCTAGAAAATC 0.368 NA 19 30 0 0 0 0 SFRS2IP 9169 broad.mit.edu 37 12 46326990 46326990 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:46326990T>C uc001rox.2 - 9 945 c.658A>G c.(658-660)ATC>GTC p.I220V SFRS2IP_uc001roy.1_Missense_Mutation_p.I294V NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 220 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) AATGCACTGATTTCACTGGCT 0.308 NA 12 42 0 0 0 0 ASB8 140461 broad.mit.edu 37 12 48543326 48543326 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:48543326C>T uc001rrh.2 - 4 859 c.690G>A c.(688-690)GTG>GTA p.V230V ASB8_uc010slr.1_Silent_p.V226V NM_024095 NP_077000 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box-containing 8 230 intracellular signal transduction cytoplasm|nucleus kidney(1) 1 GGTCTCTGGCCACCTCTCGTG 0.532 NA 19 44 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109634899 109634899 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:109634899G>A uc001tob.2 + 17 2687 c.2568G>A c.(2566-2568)GGG>GGA p.G856G ACACB_uc001toc.2_Silent_p.G856G NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 856 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) ATGATGGGGGGCTCCTGCTCT 0.587 NA 20 31 0 0 0 0 RIMBP2 23504 broad.mit.edu 37 12 130912862 130912862 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:130912862G>A uc001uil.2 - 12 2387 c.2223C>T c.(2221-2223)GAC>GAT p.D741D NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 741 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGTGGTACTCGTCTCCATGGC 0.587 NA 28 54 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39265021 39265021 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr13:39265021C>T uc001uwv.2 + 1 3849 c.3540C>T c.(3538-3540)CCC>CCT p.P1180P NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1180 CSPG 8.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGTTCTTCCCCATTGTAATCA 0.423 NA 67 103 0 0 0 0 PCDH20 64881 broad.mit.edu 37 13 61986231 61986231 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr13:61986231G>A uc001vid.3 - 2 2365 c.2001C>T c.(1999-2001)GAC>GAT p.D667D PCDH20_uc010thj.1_Silent_p.D667D NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 640 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TTCGTCCAGCGTCAGCATCTG 0.448 NA 29 49 0 0 0 0 KLHL1 57626 broad.mit.edu 37 13 70456525 70456525 + Nonsense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr13:70456525C>A uc001vip.2 - 5 1911 c.1117G>T c.(1117-1119)GAA>TAA p.E373* KLHL1_uc010thm.1_Nonsense_Mutation_p.E312* NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 373 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AAGATGGTTTCTTCATCAGGA 0.418 NA 9 43 0.000274275 0.000849994 1 0 TPPP2 122664 broad.mit.edu 37 14 21500154 21500154 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr14:21500154C>A uc001vzh.2 + 4 619 c.431C>A c.(430-432)GCG>GAG p.A144E NDRG2_uc010tll.1_Intron NM_173846 NP_776245 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family 144 cytoplasm 0 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) AAGGGCATTGCGGGACGGGAA 0.537 NA 18 45 1.34e-09 4.44e-09 1 0 MUDENG 55745 broad.mit.edu 37 14 57741500 57741500 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr14:57741500G>A uc001xcv.2 + 2 1040 c.613G>A c.(613-615)GGA>AGA p.G205R MUDENG_uc001xcu.3_Missense_Mutation_p.G205R|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.G102R NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 205 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 GACGTACAAAGGAAAACCACA 0.373 NA 13 37 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92470836 92470836 + Missense_Mutation SNP A A C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr14:92470836A>C uc001xzy.2 - 11 4272 c.3484T>G c.(3484-3486)TTA>GTA p.L1162V TRIP11_uc010auf.1_Missense_Mutation_p.L898V NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1162 Potential. 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) ATACGTGATAAATTCTGAATA 0.343 NA T PDGFRB AML 20 23 0 0 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206647 104206647 + Silent SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr14:104206647G>C uc001yof.1 - 12 2389 c.2106C>G c.(2104-2106)CCC>CCG p.P702P PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P569P NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 702 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TCAGGGGCCGGGGCGCGTTGG 0.667 NA 40 92 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28483835 28483835 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:28483835C>T uc001zbj.2 - 24 3767 c.3661G>A c.(3661-3663)GAT>AAT p.D1221N NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1221 Cytochrome b5 heme-binding. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCCTCCATCTTTATTATGG 0.378 NA 22 36 0 0 0 0 SPTBN5 51332 broad.mit.edu 37 15 42150939 42150939 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:42150939G>A uc001zos.2 - 49 8315 c.7982C>T c.(7981-7983)GCG>GTG p.A2661V NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2696 Spectrin 24. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCTCAGCCACGCAGCCACCTG 0.622 NA 6 7 0 0 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42437772 42437772 + Splice_Site SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:42437772C>A uc001zoz.2 - 16 1843 c.1780_splice c.e16+1 p.D594_splice PLA2G4F_uc010bcq.2_Intron|PLA2G4F_uc001zoy.2_Splice_Site_p.D226_splice|PLA2G4F_uc010bcr.2_Splice_Site_p.D345_splice|PLA2G4F_uc001zpa.2_Splice_Site_p.D345_splice|PLA2G4F_uc010bcs.2_Splice_Site_p.D381_splice NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCTACCCTCACCTGTGATATT 0.602 NA 17 102 5.35e-07 1.73e-06 1 0 PTPN9 5780 broad.mit.edu 37 15 75798125 75798125 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:75798125T>C uc002bal.2 - 7 1367 c.859A>G c.(859-861)ACC>GCC p.T287A NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 287 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 TCTTGGATGGTCATAGCATGG 0.502 NA 3 65 0 0 0 0 RASGRF1 5923 broad.mit.edu 37 15 79317766 79317766 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:79317766G>A uc002beq.2 - 10 1807 c.1432C>T c.(1432-1434)CGC>TGC p.R478C RASGRF1_uc002bep.2_Missense_Mutation_p.R478C|RASGRF1_uc010blm.1_Missense_Mutation_p.R400C|RASGRF1_uc002ber.3_Missense_Mutation_p.R478C NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 478 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GACCCCAGGCGCCCCCTGGTG 0.557 NA 25 43 0 0 0 0 AEN 64782 broad.mit.edu 37 15 89169644 89169644 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:89169644C>T uc002bmt.2 + 2 355 c.204C>T c.(202-204)TTC>TTT p.F68F AEN_uc010bnl.2_Silent_p.F68F|AEN_uc010bnm.1_Silent_p.F68F NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 68 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 CCACCCCTTTCGGGGCAGCGA 0.652 NA 7 18 0 0 0 0 CHD2 1106 broad.mit.edu 37 15 93563349 93563349 + Missense_Mutation SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:93563349G>T uc002bsp.2 + 38 5589 c.5014G>T c.(5014-5016)GAC>TAC p.D1672Y CHD2_uc002bso.1_Missense_Mutation_p.D1672Y NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1672 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CTGGTACAAGGACCACCATTA 0.527 NA 11 27 1.05e-09 3.51e-09 1 0 NKD1 85407 broad.mit.edu 37 16 50667423 50667423 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr16:50667423G>A uc002egg.1 + 10 1368 c.1144G>A c.(1144-1146)GCC>ACC p.A382T NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 382 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GTCCCCCTCCGCCCACCTGGC 0.716 NA 7 15 0 0 0 0 CSNK2A2 1459 broad.mit.edu 37 16 58202514 58202514 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr16:58202514C>T uc002enc.2 - 6 655 c.513G>A c.(511-513)AAG>AAA p.K171K NM_001896 NP_001887 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 171 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 GTAATGGTACCTTTTTCTGTT 0.463 NA 23 27 0 0 0 0 BCMO1 53630 broad.mit.edu 37 16 81301576 81301576 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr16:81301576G>A uc002fgn.1 + 6 901 c.683G>A c.(682-684)CGC>CAC p.R228H BCMO1_uc010vnp.1_Missense_Mutation_p.R159H NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 228 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 ATCCCATCCCGCTCCCTGCTC 0.527 NA 27 48 0 0 0 0 ZC3H18 124245 broad.mit.edu 37 16 88643837 88643837 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr16:88643837C>T uc002fky.2 + 2 506 c.306C>T c.(304-306)GAC>GAT p.D102D ZC3H18_uc010voy.1_Intron|ZC3H18_uc010voz.1_Silent_p.D102D|ZC3H18_uc010vpa.1_Silent_p.D102D NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 102 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) AGGAGGGGGACGAAGGGGAGG 0.617 NA 11 17 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr17:7578454G>A uc002gim.2 - 5 670 c.476C>T c.(475-477)GCC>GTC p.A159V TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 159 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) GATGGCCATGGCGCGGACGCG 0.627 111 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) 19 22 0 0 0 0 KRT33B 3884 broad.mit.edu 37 17 39521652 39521652 + Missense_Mutation SNP C C T rs148300082 byFrequency TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr17:39521652C>T uc002hwl.2 - 4 787 c.742G>A c.(742-744)GCC>ACC p.A248T NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 248 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) ACCTGCGTGGCGAACCATTGC 0.627 NA 7 41 0 0 0 0 SDK2 54549 broad.mit.edu 37 17 71395327 71395327 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr17:71395327G>A uc010dfm.2 - 22 3073 c.3073C>T c.(3073-3075)CGC>TGC p.R1025C SDK2_uc002jjt.3_Missense_Mutation_p.R184C|SDK2_uc010dfn.2_Missense_Mutation_p.R704C NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1025 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 ACCAGCCAGCGGGAGATGGAG 0.632 NA 15 24 0 0 0 0 RBBP8 5932 broad.mit.edu 37 18 20555133 20555133 + Missense_Mutation SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr18:20555133C>G uc002ktw.2 + 6 710 c.379C>G c.(379-381)CTA>GTA p.L127V RBBP8_uc002kty.2_Missense_Mutation_p.L127V|RBBP8_uc002ktz.2_Missense_Mutation_p.L127V|RBBP8_uc002kua.2_Missense_Mutation_p.L127V|RBBP8_uc002ktx.1_Missense_Mutation_p.L127V NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 127 Potential. cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AAGGAATACTCTACAGGAAGA 0.269 NA Direct_reversal_of_damage|Homologous_recombination 5 11 0 0 0 0 PDE4C 5143 broad.mit.edu 37 19 18329002 18329002 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:18329002G>A uc010xqc.1 - 11 1767 c.1287C>T c.(1285-1287)GAC>GAT p.D429D PDE4C_uc002nik.3_Silent_p.D429D|PDE4C_uc002nil.3_Silent_p.D429D|PDE4C_uc002nif.3_Silent_p.D198D|PDE4C_uc002nig.3_Silent_p.D144D|PDE4C_uc002nih.3_Silent_p.D199D|PDE4C_uc010ebk.2_Silent_p.D323D|PDE4C_uc002nii.3_Silent_p.D397D|PDE4C_uc010ebl.2_Silent_p.D143D|PDE4C_uc010xqd.1_Silent_p.D198D NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 429 Divalent metal cation 1.|cAMP (By similarity).|Divalent metal cation 2. signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) GATGGTCCACGTCGTGGATGG 0.592 NA 20 41 0 0 0 0 MLL4 9757 broad.mit.edu 37 19 36217142 36217142 + Silent SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:36217142T>C uc010eei.2 + 15 3891 c.3891T>C c.(3889-3891)TGT>TGC p.C1297C NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1297 PHD-type 2. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCAGATCTGTTCAGCCTGTG 0.597 NA 5 32 0 0 0 0 ZNF829 374899 broad.mit.edu 37 19 37382576 37382576 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:37382576T>C uc002ofa.1 - 6 1479 c.1117A>G c.(1117-1119)ATC>GTC p.I373V ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 373 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGTATGGATTCTCTGATGT 0.373 NA 9 19 0 0 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224848 42224848 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:42224848C>A uc002ork.2 + 8 1899 c.1778C>A c.(1777-1779)CCG>CAG p.P593Q CEACAM5_uc002orj.1_Missense_Mutation_p.P592Q|CEACAM5_uc002orl.2_Missense_Mutation_p.P593Q NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 593 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCAGATGGGCCGGACACCCCC 0.552 NA 33 141 2.81e-11 9.55e-11 1 0 SULT2A1 6822 broad.mit.edu 37 19 48374806 48374806 + Missense_Mutation SNP T T G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:48374806T>G uc002phr.2 - 6 904 c.764A>C c.(763-765)AAA>ACA p.K255T NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 255 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) GAAGTGATTTTTCCAGTCCCC 0.478 NA 3 58 0 0 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958379 50958379 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:50958379C>T uc002psf.2 + 19 2080 c.2029C>T c.(2029-2031)CGG>TGG p.R677W NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 677 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCTCGTAGAGCGGAAGAAGAA 0.572 NA 11 27 0 0 0 0 TMEM150B 284417 broad.mit.edu 37 19 55824407 55824407 + Silent SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:55824407G>T uc010esw.1 - 8 695 c.522C>A c.(520-522)GCC>GCA p.A174A TMEM150B_uc010yfu.1_Silent_p.A174A|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 174 Helical; (Potential). integral to membrane 0 GCAGCGAGCAGGCGTGGAGGA 0.677 NA 8 9 5.18e-06 1.65e-05 1 0 TMEM150B 284417 broad.mit.edu 37 19 55824419 55824419 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:55824419G>A uc010esw.1 - 8 683 c.510C>T c.(508-510)ATC>ATT p.I170I TMEM150B_uc010yfu.1_Silent_p.I170I|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 170 Helical; (Potential). integral to membrane 0 CGTGGAGGACGATCACTGCCC 0.677 NA 6 7 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57175695 57175695 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:57175695G>A uc010ygo.1 - 2 938 c.938C>T c.(937-939)GCG>GTG p.A313V ZNF835_uc010ygn.1_Missense_Mutation_p.A291V NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GGTCAGGTGCGCGATCTGCGC 0.697 NA 6 9 0 0 0 0 USP29 57663 broad.mit.edu 37 19 57640091 57640091 + Missense_Mutation SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:57640091G>T uc002qny.2 + 4 404 c.48G>T c.(46-48)AAG>AAT p.K16N NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 16 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGCCAGAAGACTGGGATGA 0.348 NA 9 21 7.48e-07 2.4e-06 1 0 GRHL1 29841 broad.mit.edu 37 2 10104143 10104143 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:10104143G>A uc002raa.2 + 6 1046 c.875G>A c.(874-876)GGA>GAA p.G292E GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.G103E|GRHL1_uc010yjb.1_Missense_Mutation_p.G141E NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 292 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) AGCAGTGAAGGAATCCATCAT 0.473 NA 8 55 0 0 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469959 25469959 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:25469959C>T uc002rgc.2 - 9 1340 c.1083G>A c.(1081-1083)AAG>AAA p.K361K DNMT3A_uc002rgd.2_Silent_p.K361K|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.K172K NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 361 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACATGGGCTGCTTGTTGTACG 0.597 NA Mis|F|N|S AML 16 26 0 0 0 0 SLC5A6 8884 broad.mit.edu 37 2 27430151 27430151 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:27430151C>T uc002rjd.2 - 3 759 c.368G>A c.(367-369)CGC>CAC p.R123H SLC5A6_uc010eyv.1_Missense_Mutation_p.R123H|SLC5A6_uc002rje.1_Missense_Mutation_p.R123H NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 123 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GAGATGCAGGCGGTAGAAAAC 0.557 NA 14 29 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166904235 166904235 + Missense_Mutation SNP G G T rs121917923 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:166904235G>T uc010zcz.1 - 8 1090 c.1072C>A c.(1072-1074)CCC>ACC p.P358T SCN1A_uc002udo.3_Missense_Mutation_p.P227T|SCN1A_uc010fpk.2_Missense_Mutation_p.P227T NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 358 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCATAATTGGGATTTCTACCA 0.408 NA 24 68 9.86e-18 3.48e-17 1 0 SCN7A 6332 broad.mit.edu 37 2 167298060 167298060 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:167298060C>A uc002udu.1 - 14 2130 c.2003G>T c.(2002-2004)CGC>CTC p.R668L SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 668 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 CATGTGCCAGCGTGGGAGTTG 0.458 NA 15 46 6.5e-13 2.25e-12 1 0 TTN 7273 broad.mit.edu 37 2 179474008 179474008 + Missense_Mutation SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:179474008G>C uc010zfg.1 - 222 44549 c.44325C>G c.(44323-44325)GAC>GAG p.D14775E uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8470E|TTN_uc010zfi.1_Missense_Mutation_p.D8403E|TTN_uc010zfj.1_Missense_Mutation_p.D8278E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15702 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) ACAGACCATGGTCAGGTCGGA 0.433 NA 11 23 0 0 0 0 TMEFF2 23671 broad.mit.edu 37 2 192922424 192922424 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:192922424C>T uc002utc.2 - 5 911 c.517G>A c.(517-519)GAA>AAA p.E173K NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 173 Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TCGGCATCTTCGTCACATTCT 0.378 NA 24 43 0 0 0 0 FN1 2335 broad.mit.edu 37 2 216240367 216240367 + Missense_Mutation SNP T T G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:216240367T>G uc002vfa.2 - 37 6228 c.5962A>C c.(5962-5964)ATC>CTC p.I1988L FN1_uc002vfb.2_Missense_Mutation_p.I1807L|FN1_uc002vfc.2_Missense_Mutation_p.I1807L|FN1_uc002vfd.2_Missense_Mutation_p.I1988L|FN1_uc002vfe.2_Missense_Mutation_p.I1897L|FN1_uc002vff.2_Missense_Mutation_p.I1897L|FN1_uc002vfg.2_Missense_Mutation_p.I1807L|FN1_uc002vfh.2_Missense_Mutation_p.I1807L|FN1_uc002vfi.2_Missense_Mutation_p.I1988L|FN1_uc002vfj.2_Missense_Mutation_p.I1898L|FN1_uc002vez.2_Missense_Mutation_p.I182L|FN1_uc010zjp.1_Missense_Mutation_p.I525L|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.I350L|FN1_uc010fvd.1_Intron NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1897 Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 14. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGGCGTCGATGACCACAGGG 0.428 NA 27 48 0 0 0 0 C20orf12 55184 broad.mit.edu 37 20 18433269 18433269 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr20:18433269C>T uc010zsa.1 - 6 799 c.590G>A c.(589-591)CGC>CAC p.R197H C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.A28T|C20orf12_uc002wqq.3_Missense_Mutation_p.R178H|C20orf12_uc002wqu.1_Intron|C20orf12_uc010gct.1_Intron NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 Error:Variant_position_missing_in_Q9NVP4_after_alignment intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) CTGGGACTGGCGGGTGGGTGG 0.433 NA 3 5 0 0 0 0 SPATA2 9825 broad.mit.edu 37 20 48523004 48523004 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr20:48523004C>T uc010gie.2 - 3 1065 c.715G>A c.(715-717)GCC>ACC p.A239T SPATA2_uc002xuw.2_Missense_Mutation_p.A239T|SPATA2_uc010zyn.1_Missense_Mutation_p.A102T NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 239 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TAGTCCTTGGCCGCCCGCTCG 0.677 NA 17 35 0 0 0 0 OR5H2 79310 broad.mit.edu 37 3 98002593 98002593 + Missense_Mutation SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr3:98002593C>G uc003dsj.1 + 1 862 c.862C>G c.(862-864)CCT>GCT p.P288A NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 AATCATAATTCCTTTGCTAAA 0.318 NA 12 46 0 0 0 0 COPG 22820 broad.mit.edu 37 3 128993713 128993713 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr3:128993713C>T uc003els.2 + 22 2389 c.2289C>T c.(2287-2289)CAC>CAT p.H763H COPG_uc010htb.2_Silent_p.H669H NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 763 Interaction with ZNF289/ARFGAP2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 TAGCTGATCACATTCAAAAGG 0.483 NA 100 85 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130292872 130292872 + Missense_Mutation SNP A A C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr3:130292872A>C uc010htl.2 + 7 3081 c.3050A>C c.(3049-3051)AAG>ACG p.K1017T NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1017 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AATGACTTCAAGAAAATGAAG 0.408 NA 11 47 0 0 0 0 TNK2 10188 broad.mit.edu 37 3 195594350 195594350 + Missense_Mutation SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr3:195594350G>C uc003fvu.1 - 12 3317 c.2774C>G c.(2773-2775)ACC>AGC p.T925S TNK2_uc003fvq.1_Missense_Mutation_p.T332S|TNK2_uc003fvr.1_Missense_Mutation_p.T450S|TNK2_uc003fvs.1_Missense_Mutation_p.T957S|TNK2_uc003fvt.1_Missense_Mutation_p.T1003S|TNK2_uc010hzw.1_RNA NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 925 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GCTGTTGTTGGTGGAGAAGTT 0.537 NA 14 12 0 0 0 0 LIMCH1 22998 broad.mit.edu 37 4 41699182 41699182 + Missense_Mutation SNP G G T rs142431467 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:41699182G>T uc003gvu.3 + 27 3286 c.3232G>T c.(3232-3234)GGG>TGG p.G1078W LIMCH1_uc003gvv.3_Missense_Mutation_p.G1052W|LIMCH1_uc003gvw.3_Missense_Mutation_p.G1051W|LIMCH1_uc003gvx.3_Missense_Mutation_p.G1064W|LIMCH1_uc003gwe.3_Missense_Mutation_p.G975W|LIMCH1_uc003gvy.3_Missense_Mutation_p.G880W|LIMCH1_uc003gwa.3_Missense_Mutation_p.G892W|LIMCH1_uc003gvz.3_Missense_Mutation_p.G1462W|LIMCH1_uc011byu.1_Missense_Mutation_p.G911W|LIMCH1_uc003gwc.3_Missense_Mutation_p.G897W|LIMCH1_uc003gwd.3_Missense_Mutation_p.G885W|LIMCH1_uc011byv.1_Missense_Mutation_p.G828W|LIMCH1_uc011byw.1_Missense_Mutation_p.G351W|LIMCH1_uc010ifv.2_RNA NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 1078 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 CACAGGTGCCGGGCAGCCTAC 0.453 NA 21 71 7.88e-20 2.81e-19 1 0 EPHA5 2044 broad.mit.edu 37 4 66361109 66361109 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:66361109T>C uc003hcy.2 - 4 1256 c.1063A>G c.(1063-1065)ACA>GCA p.T355A EPHA5_uc003hcx.2_Missense_Mutation_p.T286A|EPHA5_uc003hcz.2_Missense_Mutation_p.T355A|EPHA5_uc011cah.1_Missense_Mutation_p.T355A|EPHA5_uc011cai.1_Missense_Mutation_p.T355A|EPHA5_uc003hda.2_Missense_Mutation_p.T355A NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 355 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 TCCTTACTTGTGCATGCCATT 0.438 NA TSP Lung(17;0.13) 62 87 0 0 0 0 ANTXR2 118429 broad.mit.edu 37 4 80993706 80993706 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:80993706C>T uc003hlz.3 - 1 772 c.9G>A c.(7-9)GCG>GCA p.A3A ANTXR2_uc003hly.3_Silent_p.A3A|ANTXR2_uc003hlx.1_5'Flank|ANTXR2_uc010ijn.2_Silent_p.A3A NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 3 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 GGGACCGCTCCGCCACCATCC 0.746 NA Juvenile_Hyaline_Fibromatosis 5 5 0 0 0 0 UNC5C 8633 broad.mit.edu 37 4 96141216 96141216 + Missense_Mutation SNP C C T rs150089453 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:96141216C>T uc003htp.1 - 8 1374 c.1220G>A c.(1219-1221)CGT>CAT p.R407H UNC5C_uc010ilc.1_Missense_Mutation_p.R426H|UNC5C_uc003htq.2_Missense_Mutation_p.R426H NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 407 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CTCAAAGTCACGATGATTCTT 0.458 NA 20 44 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187584693 187584693 + Nonsense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:187584693G>A uc003izf.2 - 3 3528 c.3340C>T c.(3340-3342)CAG>TAG p.Q1114* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1114 Extracellular (Potential).|Cadherin 9. 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 ACGACACCCTGATCGGTTGCA 0.448 NA HNSCC(5;0.00058) 27 53 0 0 0 0 RAB3C 115827 broad.mit.edu 37 5 57913562 57913562 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:57913562C>A uc003jrp.2 + 2 214 c.117C>A c.(115-117)AGC>AGA p.S39R NM_138453 NP_612462 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 39 GTP (By similarity). protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) TCGGCAATAGCAGTGTGGGGA 0.428 NA 12 41 0.000978159 0.00298907 1 0 ANKRD32 84250 broad.mit.edu 37 5 94027884 94027884 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:94027884T>C uc003kkr.3 + 20 2698 c.2618T>C c.(2617-2619)GTG>GCG p.V873A ANKRD32_uc003kks.2_Missense_Mutation_p.V237A NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 873 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CTCACTCAAGTGGACGGGGTG 0.493 NA 23 61 0 0 0 0 SMAD5 4090 broad.mit.edu 37 5 135513140 135513140 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:135513140C>T uc003lbj.1 + 11 1814 c.1370C>T c.(1369-1371)CCT>CTT p.P457L SMAD5_uc003lbk.1_Missense_Mutation_p.P457L|SMAD5_uc003lbl.1_Missense_Mutation_p.P457L NM_001001419 NP_001001419 Q99717 SMAD5_HUMAN SMAD family member 5 457 MH2. BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATGGGCTCCCCTCTGAACCCC 0.398 NA 5 12 0 0 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784241 140784241 + Silent SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:140784241T>C uc003lkh.1 + 1 1722 c.1722T>C c.(1720-1722)GGT>GGC p.G574G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.G574G NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 574 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCTACTGGTGTGGAGCTGG 0.562 NA 43 114 0 0 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148899953 148899953 + Splice_Site SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:148899953T>C uc003lqx.1 - 4 838 c.358_splice c.e4-1 p.M120_splice CSNK1A1_uc011dcb.1_Splice_Site_p.M1_splice|CSNK1A1_uc011dcc.1_Splice_Site_p.M31_splice|CSNK1A1_uc003lqv.1_Splice_Site_p.M31_splice|CSNK1A1_uc003lqw.1_Splice_Site_p.M120_splice|CSNK1A1_uc003lqy.1_Splice_Site_p.M120_splice|CSNK1A1_uc010jha.1_Splice_Site_p.M120_splice NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) ACTGATCATCTGGAAAAAAAA 0.303 NA 20 28 0 0 0 0 GALNT10 55568 broad.mit.edu 37 5 153789255 153789255 + Missense_Mutation SNP C C T rs147745456 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:153789255C>T uc003lvh.2 + 9 1451 c.1319C>T c.(1318-1320)ACG>ATG p.T440M GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.T281M|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.T111M NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 440 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) tggTTTATGACGAAGATAGCC 0.303 NA 35 81 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169474561 169474561 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:169474561C>A uc003maf.2 + 40 4094 c.4014C>A c.(4012-4014)CCC>CCA p.P1338P DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.P830P NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1338 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTCAGGCCCAAACCAGACT 0.498 NA 10 45 0.000673444 0.00207724 1 0 SH3PXD2B 285590 broad.mit.edu 37 5 171809084 171809084 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:171809084C>A uc003mbr.2 - 5 528 c.357G>T c.(355-357)CTG>CTT p.L119L SH3PXD2B_uc003mbs.1_Silent_p.L119L NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 119 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAAAGAACTGCAGCACCTCAT 0.547 NA 9 14 0.000978159 0.00298907 1 0 RREB1 6239 broad.mit.edu 37 6 7229324 7229324 + Missense_Mutation SNP T T G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr6:7229324T>G uc003mxc.2 + 10 1382 c.992T>G c.(991-993)CTG>CGG p.L331R RREB1_uc003mxb.2_Missense_Mutation_p.L331R|RREB1_uc010jnx.2_Missense_Mutation_p.L331R NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 331 C2H2-type 6. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CTCTGCTCACTGGCTCTGCAC 0.607 NA 16 21 0 0 0 0 ZNRD1 30834 broad.mit.edu 37 6 30029436 30029436 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr6:30029436C>A uc003noz.2 + 2 285 c.135C>A c.(133-135)ATC>ATA p.I45I NCRNA00171_uc011dme.1_5'Flank|NCRNA00171_uc003nox.1_5'Flank|NCRNA00171_uc003rto.2_5'Flank|ZNRD1_uc003npa.2_Silent_p.I45I NM_014596 NP_055411 Q9P1U0 RPA12_HUMAN zinc ribbon domain containing 1 45 nucleolus DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding 0 GCTTCAACATCAACGTTCGGG 0.602 NA 14 68 6.32e-08 2.08e-07 1 0 CSNK2B 1460 broad.mit.edu 37 6 31636415 31636415 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr6:31636415G>A uc003nvr.1 + 4 615 c.275G>A c.(274-276)CGT>CAT p.R92H BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_3'UTR|CSNK2B_uc003nvs.1_Missense_Mutation_p.R92H|LY6G5B_uc003nvt.1_5'Flank NM_001320 NP_001311 P67870 CSK2B_HUMAN casein kinase 2, beta polypeptide 92 adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway cytosol|nucleus|protein kinase CK2 complex identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding 0 CTTACCAACCGTGGCATCGCC 0.537 NA 21 35 0 0 0 0 KIAA1919 91749 broad.mit.edu 37 6 111583600 111583600 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr6:111583600C>A uc003puv.3 + 2 590 c.168C>A c.(166-168)GTC>GTA p.V56V NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 56 Helical; (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GATTTCTTGTCGATGTCATGA 0.348 NA 39 85 1.16e-17 4.06e-17 1 0 RAC1 5879 broad.mit.edu 37 7 6426850 6426850 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:6426850G>A uc003spx.2 + 2 284 c.43G>A c.(43-45)GGT>AGT p.G15S RAC1_uc003spw.2_Missense_Mutation_p.G15S NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 15 GTP (By similarity). actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TAGAGCTGTAGGTAAAACTTG 0.318 NA 23 70 0 0 0 0 CPVL 54504 broad.mit.edu 37 7 29035468 29035468 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:29035468G>A uc003szv.2 - 13 1470 c.1351C>T c.(1351-1353)CCC>TCC p.P451S CPVL_uc003szw.2_Missense_Mutation_p.P451S|CPVL_uc003szx.2_Missense_Mutation_p.P451S NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 451 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 TGGTCATAGGGTAAAATATGT 0.333 NA 14 21 0 0 0 0 LMTK2 22853 broad.mit.edu 37 7 97821070 97821070 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:97821070G>A uc003upd.1 + 11 1586 c.1293G>A c.(1291-1293)CCG>CCA p.P431P NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 431 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) CTCTGAAGCCGAACACAAACA 0.577 NA 14 40 0 0 0 0 FSCN3 29999 broad.mit.edu 37 7 127235813 127235813 + Missense_Mutation SNP G G C rs150163324 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:127235813G>C uc003vmd.1 + 2 816 c.597G>C c.(595-597)TTG>TTC p.L199F FSCN3_uc003vmc.1_Missense_Mutation_p.L154F|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.L65F|FSCN3_uc010llc.1_Missense_Mutation_p.L199F NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 199 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 ACCACTTCTTGTCCCATGTAG 0.562 NA 21 61 0 0 0 0 C7orf49 78996 broad.mit.edu 37 7 134853603 134853603 + Missense_Mutation SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:134853603C>G uc003vsl.2 - 2 339 c.72G>C c.(70-72)AAG>AAC p.K24N C7orf49_uc003vsh.2_Missense_Mutation_p.E10Q|C7orf49_uc003vsj.2_5'Flank|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.E10Q|C7orf49_uc003vso.2_Intron NM_024033 NP_076938 Q9BWK5 MRI_HUMAN modulator of retrovirus infection 24 cytoplasm large_intestine(1)|ovary(1) 2 GTGCCACATTCTTTGTAGCCA 0.532 NA OREG0018340 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 134 0 0 0 0 FGFR1 2260 broad.mit.edu 37 8 38283759 38283759 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:38283759C>T uc003xlp.2 - 6 1568 c.626G>A c.(625-627)CGT>CAT p.R209H FGFR1_uc011lbo.1_Missense_Mutation_p.R207H|FGFR1_uc011lbp.1_Missense_Mutation_p.R120H|FGFR1_uc011lbq.1_Missense_Mutation_p.R118H|FGFR1_uc010lwk.2_Missense_Mutation_p.R201H|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.R49H|FGFR1_uc011lbt.1_Missense_Mutation_p.R118H|FGFR1_uc011lbu.1_Missense_Mutation_p.R240H|FGFR1_uc011lbv.1_Missense_Mutation_p.R207H|FGFR1_uc011lbw.1_Missense_Mutation_p.R120H|FGFR1_uc011lbx.1_Missense_Mutation_p.R120H|FGFR1_uc003xlv.2_Missense_Mutation_p.R120H|FGFR1_uc003xlu.2_Missense_Mutation_p.R118H|FGFR1_uc003xlw.1_RNA NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 209 Extracellular (Potential).|Ig-like C2-type 2. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGTGGCATAACGGACCTGAGG 0.542 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 49 143 0 0 0 0 ADAM2 2515 broad.mit.edu 37 8 39624564 39624564 + Splice_Site SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:39624564T>C uc003xnj.2 - 14 1387 c.1312_splice c.e14-1 p.F438_splice ADAM2_uc003xnk.2_Splice_Site_p.F419_splice|ADAM2_uc011lck.1_Splice_Site_p.F438_splice|ADAM2_uc003xnl.2_Splice_Site_p.F312_splice NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGACATAAACTGATGGGATGA 0.333 NA 31 60 0 0 0 0 ST18 9705 broad.mit.edu 37 8 53055565 53055565 + Missense_Mutation SNP T T A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:53055565T>A uc003xqz.2 - 12 2249 c.2093A>T c.(2092-2094)AAG>ATG p.K698M ST18_uc011ldq.1_Missense_Mutation_p.K345M|ST18_uc011ldr.1_Missense_Mutation_p.K663M|ST18_uc011lds.1_Missense_Mutation_p.K603M|ST18_uc003xra.2_Missense_Mutation_p.K698M NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 698 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCAGGAAACTTTTTTTCCTC 0.408 NA 20 53 0 0 0 0 GLI4 2738 broad.mit.edu 37 8 144358450 144358450 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:144358450C>T uc003yxx.2 + 4 692 c.607C>T c.(607-609)CGC>TGC p.R203C ZFP41_uc003yxv.2_RNA NM_138465 NP_612474 P10075 GLI4_HUMAN GLI-Kruppel family member GLI4 203 C2H2-type 1. nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GAAGCACCAGCGCATCCACAC 0.687 NA 6 15 0 0 0 0 C9orf150 286343 broad.mit.edu 37 9 12775787 12775787 + Missense_Mutation SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr9:12775787G>T uc003zkw.2 + 1 776 c.73G>T c.(73-75)GTG>TTG p.V25L NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 25 0 GBM - Glioblastoma multiforme(1;1.64e-13) CGAGAGTCTAGTGCGCTCTCT 0.498 NA 7 22 0.00198382 0.00597875 1 0 MXRA5 25878 broad.mit.edu 37 X 3228388 3228388 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:3228388C>A uc004crg.3 - 7 8013 c.7856G>T c.(7855-7857)CGC>CTC p.R2619L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2619 Ig-like C2-type 10. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGCGGCATTGCGGGCCACGCA 0.597 NA 22 6 2.98e-07 9.75e-07 1 0 GRPR 2925 broad.mit.edu 37 X 16168686 16168686 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:16168686G>A uc004cxj.2 + 2 1325 c.672G>A c.(670-672)TCG>TCA p.S224S NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 224 Helical; Name=5; (Potential). cell proliferation integral to plasma membrane bombesin receptor activity p.S224S(1) ovary(3)|lung(1) 4 Hepatocellular(33;0.183) TTCCACTGTCGATCATCTCTG 0.438 NA 5 48 0 0 0 0 SLC25A14 9016 broad.mit.edu 37 X 129479183 129479183 + Nonsense_Mutation SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:129479183G>T uc004evn.1 + 3 316 c.103G>T c.(103-105)GAG>TAG p.E35* SLC25A14_uc011mut.1_5'UTR|SLC25A14_uc011muu.1_Nonsense_Mutation_p.E35*|SLC25A14_uc010nrg.2_Nonsense_Mutation_p.E32*|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Nonsense_Mutation_p.E35*|SLC25A14_uc004evq.1_Nonsense_Mutation_p.E32*|SLC25A14_uc004evr.1_Nonsense_Mutation_p.E32* NM_003951 NP_003942 O95258 UCP5_HUMAN solute carrier family 25, member 14 isoform 35 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding ovary(1) 1 TGTAAGTCATGAGATGTCTGG 0.388 NA 35 19 1.27e-14 4.4e-14 1 0 FGF13 2258 broad.mit.edu 37 X 137715118 137715118 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:137715118C>T uc004fam.2 - 5 1293 c.631G>A c.(631-633)GAT>AAT p.D211N FGF13_uc004fan.2_Missense_Mutation_p.D158N|FGF13_uc011mwi.1_Missense_Mutation_p.D192N|FGF13_uc004faq.2_Missense_Mutation_p.D221N|FGF13_uc004far.2_Missense_Mutation_p.D192N|FGF13_uc011mwj.1_Missense_Mutation_p.D221N|FGF13_uc011mwk.1_Missense_Mutation_p.D165N NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 211 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) TCCGTGAGATCGTGCAGTGAT 0.468 NA 40 14 0 0 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10225151 10225152 + Frame_Shift_Del DEL AT AT - rs151191595 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:10225151_10225152delAT uc002mna.2 + 13 2122_2123 c.2122_2123delAT c.(2122-2124)ATAfs p.I708fs PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Frame_Shift_Del_p.I288fs NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CTTTGCAGACATAGCCCAGGCC 0.658 NA 21 20 --- --- --- --- NA NA NA NA SERPINE1 5054 broad.mit.edu 37 7 100777046 100777047 + Frame_Shift_Ins INS - - A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:100777046_100777047insA uc003uxt.2 + 5 919_920 c.771_772insA c.(769-774)AGCATGfs p.S257fs SERPINE1_uc011kkj.1_Frame_Shift_Ins_p.S242fs|SERPINE1_uc003uxu.1_Frame_Shift_Ins_p.S88fs NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 257_258 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) ACACCCTCAGCATGTTCATTGC 0.54 NA 20 56 --- --- --- --- NA NA NA NA