Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KIF1B 23095 broad.mit.edu 37 1 10292474 10292474 + Missense_Mutation SNP A A G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:10292474A>G uc001aqx.3 + 2 290 c.88A>G c.(88-90)ATG>GTG p.M30V KIF1B_uc001aqv.3_Missense_Mutation_p.M30V|KIF1B_uc001aqw.3_Missense_Mutation_p.M30V|KIF1B_uc001aqy.2_Missense_Mutation_p.M30V|KIF1B_uc001aqz.2_Missense_Mutation_p.M30V|KIF1B_uc001ara.2_Missense_Mutation_p.M30V|KIF1B_uc001arb.2_Missense_Mutation_p.M30V|KIF1B_uc009vmt.2_RNA NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 30 Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CATCATTCAGATGCAAGGCAA 0.468 NA 15 21 0 0 0.008871 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 NA 3 52 0 0 0.009096 0 0 HECTD3 79654 broad.mit.edu 37 1 45471493 45471493 + Missense_Mutation SNP C C A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:45471493C>A uc009vxk.2 - 15 2006 c.1908G>T c.(1906-1908)AAG>AAT p.K636N HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.K246N|HECTD3_uc010olh.1_Missense_Mutation_p.K352N NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 636 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) CTGGGAAGTCCTTGCTCCAGC 0.428 NA 35 59 1.04594e-18 1.27436e-18 0.00623 1 0 FAF1 11124 broad.mit.edu 37 1 50941262 50941262 + Silent SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:50941262G>A uc009vyx.1 - 19 1806 c.1743C>T c.(1741-1743)CCC>CCT p.P581P FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Silent_p.P581P|FAF1_uc010onc.1_Silent_p.P339P NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 581 UBX. apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) ACTCGCCACTGGGGGTCCGGA 0.542 NA 29 36 0 0 0.007291 0 0 FCGR3B 2215 broad.mit.edu 37 1 161599819 161599819 + Missense_Mutation SNP A A G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:161599819A>G uc009wul.2 - 3 342 c.68T>C c.(67-69)CTC>CCC p.L23P NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 23 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGCCTTTGGGAGATCTTCTGA 0.547 NA 26 38 0 0 0.009535 0 0 SMG7 9887 broad.mit.edu 37 1 183486889 183486889 + Silent SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:183486889G>A uc001gqg.2 + 4 368 c.246G>A c.(244-246)CCG>CCA p.P82P SMG7_uc010pob.1_Silent_p.P111P|SMG7_uc001gqf.2_Silent_p.P82P|SMG7_uc001gqh.2_Silent_p.P82P|SMG7_uc001gqi.2_Silent_p.P40P|SMG7_uc010poc.1_Silent_p.P40P NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 82 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GAGCAAATCCGAATCGGAGTG 0.418 NA 28 228 0 0 0.009535 0 0 TPR 7175 broad.mit.edu 37 1 186329117 186329117 + Silent SNP A A C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:186329117A>C uc001grv.2 - 12 1500 c.1203T>G c.(1201-1203)GCT>GCG p.A401A TPR_uc010pop.1_Silent_p.A477A NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 401 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTTCCACATAAGCATTATAGA 0.328 NA T NTRK1 papillary thyroid 26 46 0 0 0.005443 0 0 NAV1 89796 broad.mit.edu 37 1 201777624 201777624 + Silent SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:201777624G>T uc001gwu.2 + 18 4262 c.3915G>T c.(3913-3915)TCG>TCT p.S1305S NAV1_uc001gwx.2_Silent_p.S914S|MIR1231_hsa-mir-1231|MI0006321_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1308 Potential. cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 AGGAGGTATCGGAGCTGCGCT 0.562 NA 36 75 9.8876e-21 1.24772e-20 0.004878 1 0 MIA3 375056 broad.mit.edu 37 1 222801788 222801788 + Missense_Mutation SNP A A T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:222801788A>T uc001hnl.2 + 4 1235 c.1226A>T c.(1225-1227)GAG>GTG p.E409V MIA3_uc009xea.1_Missense_Mutation_p.E245V NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 409 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) TCTAGTTCAGAGGAAGAAAAA 0.403 NA 59 114 0 0 0.01441 0 0 WDR64 128025 broad.mit.edu 37 1 241929587 241929587 + Missense_Mutation SNP T T C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:241929587T>C uc001hzf.1 + 10 1298 c.1145T>C c.(1144-1146)ATA>ACA p.I382T WDR64_uc001hzg.1_Missense_Mutation_p.I128T NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 662 WD 9. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TATAATTTGATAGCAGCTGGA 0.338 NA 35 93 0 0 0.004289 0 0 MYPN 84665 broad.mit.edu 37 10 69934146 69934146 + Missense_Mutation SNP C C G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr10:69934146C>G uc001jnm.3 + 12 2482 c.2297C>G c.(2296-2298)TCT>TGT p.S766C MYPN_uc001jnn.3_Missense_Mutation_p.S491C|MYPN_uc001jno.3_Missense_Mutation_p.S766C|MYPN_uc009xpt.2_Missense_Mutation_p.S766C|MYPN_uc010qit.1_Missense_Mutation_p.S472C|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 766 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CTCTTAGTGTCTCACCCCTCT 0.522 NA 76 64 0 0 0.01441 0 0 DCHS1 8642 broad.mit.edu 37 11 6647528 6647528 + Missense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr11:6647528C>T uc001mem.1 - 16 6858 c.6448G>A c.(6448-6450)GGA>AGA p.G2150R NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2150 Cadherin 20.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAAAGGCTCCTCCACTCTCT 0.592 NA 4 20 0 0 0.000602 0 0 OR10A6 390093 broad.mit.edu 37 11 7949674 7949674 + Missense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr11:7949674C>T uc010rbh.1 - 1 536 c.536G>A c.(535-537)TGT>TAT p.C179Y NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGGGTTTCACAAGATATATG 0.363 NA 22 22 0 0 0.00278 0 0 HIPK3 10114 broad.mit.edu 37 11 33373334 33373334 + Silent SNP G G C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr11:33373334G>C uc001mul.1 + 15 3258 c.2988G>C c.(2986-2988)GTG>GTC p.V996V HIPK3_uc001mum.1_Silent_p.V975V|HIPK3_uc009yjv.1_Silent_p.V975V NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 996 Required for localization to nuclear speckles (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 CTGTTGTGGTGCCACCAGTGG 0.453 NA 21 29 0 0 0.00278 0 0 NR1H3 10062 broad.mit.edu 37 11 47283259 47283259 + Silent SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr11:47283259G>A uc009ylm.2 + 6 1091 c.870G>A c.(868-870)CTG>CTA p.L290L NR1H3_uc009yll.1_Silent_p.L296L|NR1H3_uc010rhk.1_Silent_p.L296L|NR1H3_uc001nek.2_Silent_p.L245L|NR1H3_uc001nej.2_Intron|NR1H3_uc001nel.2_Silent_p.L245L|NR1H3_uc001nen.3_Intron|NR1H3_uc001nem.2_Silent_p.L290L|NR1H3_uc001nep.2_Intron NM_005693 NP_005684 Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 290 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding ovary(2)|lung(1) 3 TTGCCCTGCTGAAGACCTCTG 0.582 NA 29 39 0 0 0.008361 0 0 INTS5 80789 broad.mit.edu 37 11 62416429 62416429 + Missense_Mutation SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr11:62416429G>A uc001nud.2 - 2 1176 c.1123C>T c.(1123-1125)CAC>TAC p.H375Y GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 375 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CCTTGAAGGTGTTGCTGCAGC 0.602 NA 15 56 0 0 0.003163 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68682465 68682465 + Missense_Mutation SNP A A G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr11:68682465A>G uc001ook.1 + 6 988 c.886A>G c.(886-888)ATC>GTC p.I296V IGHMBP2_uc001ooj.1_RNA NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 296 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGTTGCAGATATCAGGAAGGA 0.552 NA 19 36 0 0 0.014323 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102999641 102999641 + Silent SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr11:102999641G>T uc001pho.2 + 13 2004 c.1860G>T c.(1858-1860)GTG>GTT p.V620V DYNC2H1_uc001phn.1_Silent_p.V620V|DYNC2H1_uc009yxe.1_Silent_p.V620V NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 620 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CTTTGTAGGTGGCACATTTTT 0.244 NA 21 35 1.01871e-10 1.19982e-10 0.008871 1 0 IGSF9B 22997 broad.mit.edu 37 11 133790096 133790096 + Missense_Mutation SNP G G C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr11:133790096G>C uc001qgx.3 - 18 3755 c.3524C>G c.(3523-3525)CCC>CGC p.P1175R NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1175 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCGGGGCCGGGGCTGGGGCTC 0.701 NA 12 59 0 0 0.003163 0 0 ARID2 196528 broad.mit.edu 37 12 46231201 46231201 + Splice_Site SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr12:46231201G>A uc001ros.1 + 9 1120 c.1120_splice c.e9+1 p.G374_splice ARID2_uc001ror.2_Splice_Site_p.G374_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.G20_splice|ARID2_uc001rot.1_Splice_Site_p.G20_splice NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AAGATGAGAGGTGAGTTTTCA 0.308 NA 22 32 0 0 0.014323 0 0 NFATC4 4776 broad.mit.edu 37 14 24839714 24839714 + Silent SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr14:24839714G>A uc001wpc.2 + 2 1431 c.1110G>A c.(1108-1110)AAG>AAA p.K370K NFATC4_uc010tok.1_Silent_p.K433K|NFATC4_uc010tol.1_Silent_p.K433K|NFATC4_uc010alr.2_Silent_p.K433K|NFATC4_uc010als.2_Silent_p.K383K|NFATC4_uc010tom.1_Silent_p.K383K|NFATC4_uc010ton.1_Silent_p.K383K|NFATC4_uc010too.1_Silent_p.K383K|NFATC4_uc010alt.2_Silent_p.K402K|NFATC4_uc010top.1_Silent_p.K402K|NFATC4_uc010toq.1_Silent_p.K402K|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Silent_p.K370K|NFATC4_uc010tos.1_Silent_p.K300K|NFATC4_uc010tot.1_Silent_p.K358K|NFATC4_uc010tou.1_Silent_p.K300K|NFATC4_uc010tov.1_Silent_p.K358K|NFATC4_uc010tow.1_Silent_p.K300K|NFATC4_uc010alv.2_Silent_p.K358K|NFATC4_uc010tox.1_Silent_p.K300K|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 370 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) GTTCCCGGAAGGAGGTGGCTG 0.642 NA 10 61 0 0 0.010729 0 0 NFATC4 4776 broad.mit.edu 37 14 24839725 24839725 + Missense_Mutation SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr14:24839725G>A uc001wpc.2 + 2 1442 c.1121G>A c.(1120-1122)GGC>GAC p.G374D NFATC4_uc010tok.1_Missense_Mutation_p.G437D|NFATC4_uc010tol.1_Missense_Mutation_p.G437D|NFATC4_uc010alr.2_Missense_Mutation_p.G437D|NFATC4_uc010als.2_Missense_Mutation_p.G387D|NFATC4_uc010tom.1_Missense_Mutation_p.G387D|NFATC4_uc010ton.1_Missense_Mutation_p.G387D|NFATC4_uc010too.1_Missense_Mutation_p.G387D|NFATC4_uc010alt.2_Missense_Mutation_p.G406D|NFATC4_uc010top.1_Missense_Mutation_p.G406D|NFATC4_uc010toq.1_Missense_Mutation_p.G406D|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.G374D|NFATC4_uc010tos.1_Missense_Mutation_p.G304D|NFATC4_uc010tot.1_Missense_Mutation_p.G362D|NFATC4_uc010tou.1_Missense_Mutation_p.G304D|NFATC4_uc010tov.1_Missense_Mutation_p.G362D|NFATC4_uc010tow.1_Missense_Mutation_p.G304D|NFATC4_uc010alv.2_Missense_Mutation_p.G362D|NFATC4_uc010tox.1_Missense_Mutation_p.G304D|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 374 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) GAGGTGGCTGGCATGGACTAC 0.642 NA 11 63 0 0 0.013537 0 0 FAM179B 23116 broad.mit.edu 37 14 45431925 45431925 + Missense_Mutation SNP C C G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr14:45431925C>G uc001wvv.2 + 1 510 c.301C>G c.(301-303)CAA>GAA p.Q101E FAM179B_uc001wvw.2_Missense_Mutation_p.Q101E|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.Q101E|FAM179B_uc001wvu.2_Missense_Mutation_p.Q101E NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 101 binding skin(2)|upper_aerodigestive_tract(1) 3 TCGGCTCCTTCAACTCCTCCG 0.642 NA 50 76 0 0 0.01441 0 0 ITPKA 3706 broad.mit.edu 37 15 41793911 41793911 + Missense_Mutation SNP T T G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr15:41793911T>G uc001znz.2 + 3 676 c.665T>G c.(664-666)CTG>CGG p.L222R NM_002220 NP_002211 P23677 IP3KA_HUMAN 1D-myo-inositol-trisphosphate 3-kinase A 222 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CTGGCGCGGCTGATGGCTGAC 0.692 NA 3 16 0 0 0.004672 0 0 LBXCOR1 390598 broad.mit.edu 37 15 68125572 68125572 + Missense_Mutation SNP A A G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr15:68125572A>G uc002aqy.1 + 9 2648 c.2648A>G c.(2647-2649)TAT>TGT p.Y883C NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 927 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 AAGGCGCGCTATGCCATCCAG 0.587 NA 13 19 0 0 0.004007 0 0 NEIL1 79661 broad.mit.edu 37 15 75646183 75646183 + Silent SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr15:75646183G>A uc002bad.2 + 6 1328 c.822G>A c.(820-822)CGG>CGA p.R274R NEIL1_uc002bae.2_Silent_p.R360R|MIR631_hsa-mir-631|MI0003645_5'Flank NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 274 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding ovary(1) 1 TGCAGGACCGGCATGGCCGTA 0.617 NA BER_DNA_glycosylases 4 129 0 0 0.000602 0 0 AKAP13 11214 broad.mit.edu 37 15 86286756 86286756 + Missense_Mutation SNP C C G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr15:86286756C>G uc002blv.1 + 36 8262 c.8092C>G c.(8092-8094)CCA>GCA p.P2698A AKAP13_uc002blu.1_Missense_Mutation_p.P2702A|AKAP13_uc002blw.1_Missense_Mutation_p.P1163A|AKAP13_uc002blx.1_Missense_Mutation_p.P943A NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2698 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GATGAGGATCCCATCGTTCTT 0.502 Melanoma(94;603 1453 3280 32295 32951) NA 10 159 0 0 0.010729 0 0 KIAA0182 23199 broad.mit.edu 37 16 85704643 85704643 + Missense_Mutation SNP G G A rs2303203 TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr16:85704643G>A uc002fix.2 + 15 3532 c.3458G>A c.(3457-3459)CGA>CAA p.R1153Q KIAA0182_uc002fiw.2_Missense_Mutation_p.R1049Q|KIAA0182_uc002fiy.2_Missense_Mutation_p.R1080Q|KIAA0182_uc002fiz.2_Missense_Mutation_p.R295Q|KIAA0182_uc010cho.2_Missense_Mutation_p.R333Q NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 1153 Potential. protein binding large_intestine(3)|ovary(1)|skin(1) 5 CAATGTAGACGACTGGAGGCC 0.562 NA 23 36 0 0 0.003954 0 0 AIPL1 23746 broad.mit.edu 37 17 6328905 6328905 + Missense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr17:6328905C>T uc002gcp.2 - 6 1125 c.1030G>A c.(1030-1032)GCA>ACA p.A344T AIPL1_uc002gcq.2_Missense_Mutation_p.A284T|AIPL1_uc002gcr.2_Missense_Mutation_p.A281T|AIPL1_uc010clk.2_Missense_Mutation_p.A322T|AIPL1_uc010cll.2_Missense_Mutation_p.A320T|AIPL1_uc002gcs.2_3'UTR NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 344 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) gatgactgtgcgggtggctct 0.259 NA 56 102 0 0 0.01441 0 0 CCDC55 84081 broad.mit.edu 37 17 28511752 28511752 + Missense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr17:28511752C>T uc002heu.2 + 7 765 c.737C>T c.(736-738)GCA>GTA p.A246V CCDC55_uc002hev.2_Missense_Mutation_p.A192V|CCDC55_uc010wbl.1_Missense_Mutation_p.A192V|CCDC55_uc010wbm.1_Missense_Mutation_p.A192V|CCDC55_uc002hex.2_Missense_Mutation_p.A192V NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 246 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 AACCCAGATGCAGACAGTGAC 0.413 NA 34 59 0 0 0.003755 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43473891 43473891 + Missense_Mutation SNP C C A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr17:43473891C>A uc002iix.2 - 13 1561 c.1112G>T c.(1111-1113)CGC>CTC p.R371L ARHGAP27_uc010dak.2_Missense_Mutation_p.R344L NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 isoform a 712 Rho-GAP. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding 0 Renal(3;0.0405) CTGCACGAAGCGTGGCACCCG 0.731 NA 7 11 0.000157383 0.000173777 0.00308 1 0 GH2 2689 broad.mit.edu 37 17 61958402 61958402 + Missense_Mutation SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr17:61958402G>A uc002jco.1 - 3 340 c.278C>T c.(277-279)ACG>ATG p.T93M GH2_uc002jcj.2_Missense_Mutation_p.T93M|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.T93M|GH2_uc002jcm.1_Missense_Mutation_p.T93M|GH2_uc002jcn.1_Missense_Mutation_p.T78M NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 93 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 TTTCTGCTGCGTTTTCACCCT 0.572 NA 156 273 0 0 0.01441 0 0 CSH1 1442 broad.mit.edu 37 17 61972557 61972557 + Missense_Mutation SNP C C A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr17:61972557C>A uc002jcs.1 - 5 595 c.479G>T c.(478-480)CGG>CTG p.R160L CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_Silent_p.P150P|CSH1_uc002jcq.1_Missense_Mutation_p.R121L|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.R126L|CSH1_uc002jcu.1_Silent_p.P244P|CSH1_uc002jcv.1_Missense_Mutation_p.R65L|CSH1_uc002jcw.2_Silent_p.P159P|CSH1_uc002jcy.2_3'UTR NM_001317 NP_001308 P01243 CSH_HUMAN chorionic somatomammotropin hormone 1 isoform 1 160 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding skin(1) 1 CTGCCCAGTCCGGCGGCTGCC 0.547 NA Russell-Silver_syndrome 57 99 3.13765e-25 4.00712e-25 0.01441 1 0 LLGL2 3993 broad.mit.edu 37 17 73566508 73566508 + Nonsense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr17:73566508C>T uc002joh.2 + 16 2108 c.1954C>T c.(1954-1956)CAG>TAG p.Q652* LLGL2_uc002joi.2_Nonsense_Mutation_p.Q652*|LLGL2_uc010dgg.1_Nonsense_Mutation_p.Q652*|LLGL2_uc002joj.2_Nonsense_Mutation_p.Q641*|LLGL2_uc010wsd.1_Nonsense_Mutation_p.Q279* NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 652 WD 10. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GTCCTTGCGTCAGTCATTCCG 0.692 NA 6 13 0 0 0.00308 0 0 FBN3 84467 broad.mit.edu 37 19 8191468 8191468 + Missense_Mutation SNP C C A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:8191468C>A uc002mjf.2 - 19 2459 c.2438G>T c.(2437-2439)TGG>TTG p.W813L NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 813 TB 4. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GATCTTCAGCCAGCAGGTGCC 0.677 NA 21 43 6.44725e-10 7.50999e-10 0.014323 1 0 MUC16 94025 broad.mit.edu 37 19 9073701 9073701 + Nonsense_Mutation SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:9073701G>T uc002mkp.2 - 3 13949 c.13745C>A c.(13744-13746)TCA>TAA p.S4582* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4584 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACCAGGTATTGATATAGAAGC 0.517 NA 17 62 7.41877e-09 8.45581e-09 0.012319 1 0 EPHX3 79852 broad.mit.edu 37 19 15338342 15338342 + Missense_Mutation SNP T T C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:15338342T>C uc002nap.2 - 7 1198 c.989A>G c.(988-990)CAC>CGC p.H330R EPHX3_uc002naq.2_Missense_Mutation_p.H330R NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 330 extracellular region hydrolase activity 0 TGGCAGGATGTGGGCCTCCAA 0.612 NA 31 41 0 0 0.003755 0 0 HKR1 284459 broad.mit.edu 37 19 37853120 37853120 + Missense_Mutation SNP T T G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:37853120T>G uc002ogb.2 + 6 692 c.423T>G c.(421-423)AGT>AGG p.S141R HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_5'UTR|HKR1_uc002oga.2_Missense_Mutation_p.S123R|HKR1_uc010xto.1_Missense_Mutation_p.S123R|HKR1_uc002ogc.2_Missense_Mutation_p.S122R|HKR1_uc010xtp.1_Missense_Mutation_p.S80R|HKR1_uc002ogd.2_Missense_Mutation_p.S80R NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 141 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTTTTCAAGTTTATGGGCAG 0.463 NA 64 107 0 0 0.01441 0 0 PSG1 5669 broad.mit.edu 37 19 43382252 43382252 + Silent SNP T T C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:43382252T>C uc002ovb.2 - 2 381 c.243A>G c.(241-243)TCA>TCG p.S81S PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.S81S|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.S81S|PSG1_uc010eio.1_Silent_p.S81S|PSG1_uc002oux.1_Silent_p.S10S|PSG1_uc002ouy.1_Silent_p.S81S|PSG1_uc002ouz.1_Silent_p.S81S|PSG1_uc002ova.1_Silent_p.S81S|PSG1_uc002ovc.2_Silent_p.S81S|PSG1_uc002ovd.1_Silent_p.S81S NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 81 Ig-like V-type. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) CTACTACATATGATGTAATGT 0.443 NA 221 337 0 0 0.01441 0 0 SHANK1 50944 broad.mit.edu 37 19 51165489 51165489 + Silent SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:51165489C>T uc002psx.1 - 23 6238 c.6219G>A c.(6217-6219)TCG>TCA p.S2073S SHANK1_uc002psw.1_Silent_p.S1457S NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2073 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGAGGGAGCGCGAGGCCCCTG 0.687 NA 6 34 0 0 0.004482 0 0 KLK15 55554 broad.mit.edu 37 19 51330321 51330321 + Silent SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:51330321G>A uc002ptl.2 - 3 325 c.294C>T c.(292-294)TAC>TAT p.Y98Y KLK15_uc002ptm.2_Silent_p.Y98Y|KLK15_uc002ptn.2_Silent_p.Y98Y|KLK15_uc002pto.2_Silent_p.Y97Y|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Silent_p.Y97Y|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 98 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) TGCGCGCTTCGTAGCGCGGGT 0.662 Pancreas(140;10 2513 7143 9246) NA 42 63 0 0 0.01441 0 0 ZNF614 80110 broad.mit.edu 37 19 52519939 52519939 + Silent SNP A A C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:52519939A>C uc002pyj.2 - 5 1314 c.912T>G c.(910-912)GCT>GCG p.A304A ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Silent_p.A7A NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 304 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TTCGCTGATGAGCAATTAGAT 0.403 NA 19 170 0 0 0.006122 0 0 PEG3 5178 broad.mit.edu 37 19 57327010 57327010 + Nonsense_Mutation SNP T T A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr19:57327010T>A uc002qnu.2 - 7 3151 c.2800A>T c.(2800-2802)AAG>TAG p.K934* ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.K905*|PEG3_uc002qnv.2_Nonsense_Mutation_p.K934*|PEG3_uc002qnw.2_Nonsense_Mutation_p.K810*|PEG3_uc002qnx.2_Nonsense_Mutation_p.K808*|PEG3_uc010etr.2_Nonsense_Mutation_p.K934* NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 934 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCACGAGCCTTCTGGTATTCA 0.463 NA 66 133 0 0 0.01441 0 0 RPS7 6201 broad.mit.edu 37 2 3627799 3627799 + Silent SNP G G C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr2:3627799G>C uc002qxw.2 + 6 562 c.456G>C c.(454-456)CGG>CGC p.R152R RPS7_uc002qxy.2_RNA NM_001011 NP_001002 P62081 RS7_HUMAN ribosomal protein S7 152 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome protein binding|RNA binding|structural constituent of ribosome 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) ATGGCAGCCGGCTCATAAAGG 0.483 NA 25 51 0 0 0.00632 0 0 WDR35 57539 broad.mit.edu 37 2 20135266 20135266 + Missense_Mutation SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr2:20135266G>A uc002rdi.2 - 22 2654 c.2546C>T c.(2545-2547)GCC>GTC p.A849V WDR35_uc002rdj.2_Missense_Mutation_p.A838V|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.A414V|WDR35_uc002rdk.3_Missense_Mutation_p.A414V NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 849 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGTGAAATGGCAAGGTTCTC 0.338 NA 22 58 0 0 0.00333 0 0 EPT1 85465 broad.mit.edu 37 2 26607932 26607932 + Missense_Mutation SNP G G C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr2:26607932G>C uc010ykz.1 + 8 984 c.837G>C c.(835-837)TGG>TGC p.W279C EPT1_uc010eyl.1_RNA NM_033505 NP_277040 Q9C0D9 EPT1_HUMAN selenoprotein I 279 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding 0 GGATCCTTTGGTCACCTTCAG 0.348 NA 4 37 0 0 0.009096 0 0 CGREF1 10669 broad.mit.edu 37 2 27324165 27324165 + Missense_Mutation SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr2:27324165G>T uc010eys.1 - 7 1025 c.883C>A c.(883-885)CAA>AAA p.Q295K CGREF1_uc010ylf.1_Intron|CGREF1_uc002rip.1_Intron|CGREF1_uc002riq.2_Missense_Mutation_p.Q312K|CGREF1_uc010eyr.1_Missense_Mutation_p.Q417K|CGREF1_uc002rir.1_Missense_Mutation_p.Q295K|CGREF1_uc002ris.2_Missense_Mutation_p.F295L NM_006569 NP_006560 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 295 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTCCACTTGAACAATGTGC 0.502 NA 117 221 1.89039e-43 2.53647e-43 0.01441 1 0 FAM123C 205147 broad.mit.edu 37 2 131519728 131519728 + Missense_Mutation SNP C C A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr2:131519728C>A uc002trw.2 + 2 273 c.83C>A c.(82-84)GCT>GAT p.A28D FAM123C_uc010fmv.2_Missense_Mutation_p.A28D|FAM123C_uc010fms.1_Missense_Mutation_p.A28D|FAM123C_uc010fmt.1_Missense_Mutation_p.A28D|FAM123C_uc010fmu.1_Missense_Mutation_p.A28D NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 28 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GCAGCCGTGGCTGCAGCCAGG 0.637 NA 4 8 0.00909568 0.00993961 0.009096 1 0 TTN 7273 broad.mit.edu 37 2 179640620 179640620 + Missense_Mutation SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr2:179640620G>T uc010zfg.1 - 28 6195 c.5971C>A c.(5971-5973)CCT>ACT p.P1991T TTN_uc010zfh.1_Missense_Mutation_p.P1945T|TTN_uc010zfi.1_Missense_Mutation_p.P1945T|TTN_uc010zfj.1_Missense_Mutation_p.P1945T|TTN_uc002unb.2_Missense_Mutation_p.P1991T|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1991 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) GACTCTTCAGGCACTTTTTCA 0.438 NA 26 269 1.42536e-11 1.69762e-11 0.004656 1 0 C20orf185 359710 broad.mit.edu 37 20 31651454 31651454 + Missense_Mutation SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr20:31651454G>A uc002wym.1 + 6 625 c.625G>A c.(625-627)GTG>ATG p.V209M NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 209 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 GCTGGGTGTGGTGAATGAGCT 0.572 NA 54 170 0 0 0.01441 0 0 KRTAP19-1 337882 broad.mit.edu 37 21 31852612 31852612 + Missense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr21:31852612C>T uc011acx.1 - 1 25 c.25G>A c.(25-27)GGA>AGA p.G9R NM_181607 NP_853638 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 9 26 X 2 AA repeats of G-[YCGS]. intermediate filament 0 CCCAGGCCTCCGTAGTAGCTG 0.557 NA 6 52 0 0 0.003163 0 0 ITGB2 3689 broad.mit.edu 37 21 46313397 46313397 + Silent SNP G G A rs61737080 TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr21:46313397G>A uc002zgd.2 - 9 1190 c.1146C>T c.(1144-1146)TAC>TAT p.Y382Y ITGB2_uc002zge.2_Silent_p.Y382Y|ITGB2_uc002zgf.3_Silent_p.Y382Y|ITGB2_uc011afl.1_Silent_p.Y304Y|ITGB2_uc010gpw.2_Silent_p.Y325Y|ITGB2_uc002zgg.2_Silent_p.Y382Y NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 382 Extracellular (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) AGAAGGAGTCGTAGGTGACTT 0.597 NA OREG0026255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 177 0 0 0.006999 0 0 STAC 6769 broad.mit.edu 37 3 36527665 36527665 + Missense_Mutation SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr3:36527665G>T uc003cgh.1 + 5 650 c.611G>T c.(610-612)CGC>CTC p.R204L STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.R143L NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 204 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 GAGACCCTCCGCTTCGGCACC 0.562 NA 56 218 2.2129e-31 2.89589e-31 0.01441 1 0 LAMB2 3913 broad.mit.edu 37 3 49167754 49167754 + Missense_Mutation SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr3:49167754G>A uc003cwe.2 - 9 1434 c.1135C>T c.(1135-1137)CAT>TAT p.H379Y LAMB2_uc003cwf.1_Missense_Mutation_p.H379Y NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 379 Laminin EGF-like 2. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCTGTGTTATGCTGACATCCA 0.597 NA 47 38 0 0 0.013114 0 0 LAMB2 3913 broad.mit.edu 37 3 49170269 49170269 + Missense_Mutation SNP C C A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr3:49170269C>A uc003cwe.2 - 1 331 c.32G>T c.(31-33)GGA>GTA p.G11V LAMB2_uc003cwf.1_Missense_Mutation_p.G11V NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 11 cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGAGGCTGTCCCCTCCCTCT 0.622 NA 21 21 1.85244e-09 2.13433e-09 0.00333 1 0 SI 6476 broad.mit.edu 37 3 164777791 164777791 + Missense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr3:164777791C>T uc003fei.2 - 10 1107 c.1045G>A c.(1045-1047)GCA>ACA p.A349T NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 349 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTCCAATATGCTGGCATTGCT 0.363 NA HNSCC(35;0.089) 3 51 0 0 0.004672 0 0 MECOM 2122 broad.mit.edu 37 3 168833635 168833635 + Silent SNP T T A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr3:168833635T>A uc003ffi.3 - 7 1730 c.1461A>T c.(1459-1461)TCA>TCT p.S487S MECOM_uc010hwk.1_Silent_p.S510S|MECOM_uc003ffj.3_Silent_p.S552S|MECOM_uc011bpi.1_Silent_p.S488S|MECOM_uc003ffn.3_Silent_p.S487S|MECOM_uc003ffk.2_Silent_p.S487S|MECOM_uc003ffl.2_Silent_p.S647S|MECOM_uc011bpj.1_Silent_p.S675S|MECOM_uc011bpk.1_Silent_p.S477S|MECOM_uc010hwn.2_Silent_p.S675S NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 487 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CCAGTCCTGTTGAACCAAAGT 0.433 NA 29 101 0 0 0.010818 0 0 DVL3 1857 broad.mit.edu 37 3 183884764 183884764 + Splice_Site SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr3:183884764G>T uc003fms.2 + 11 1338 c.1198_splice c.e11+1 p.R400_splice DVL3_uc011bqw.1_Splice_Site_p.R383_splice|DVL3_uc003fmt.2_Splice_Site_p.R71_splice|DVL3_uc003fmu.2_Splice_Site_p.R232_splice NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GACACAGAGCGTGAGTGTCCC 0.622 NA 29 135 8.58068e-18 1.03358e-17 0.007291 1 0 PPP2R2C 5522 broad.mit.edu 37 4 6380272 6380272 + Nonsense_Mutation SNP C C A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr4:6380272C>A uc003gjc.2 - 3 566 c.196G>T c.(196-198)GAA>TAA p.E66* PPP2R2C_uc003gjb.2_Nonsense_Mutation_p.E49*|PPP2R2C_uc011bwd.1_Nonsense_Mutation_p.E59*|PPP2R2C_uc011bwe.1_Nonsense_Mutation_p.E59*|PPP2R2C_uc003gja.2_Nonsense_Mutation_p.E66*|PPP2R2C_uc003gjd.1_Nonsense_Mutation_p.E154* NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 66 E -> D (in Ref. 2; AAG39636). signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 ACGTCGTATTCGCCCTGGCTG 0.587 NA 77 83 1.13027e-35 1.49761e-35 0.01441 1 0 FSTL5 56884 broad.mit.edu 37 4 162577480 162577480 + Silent SNP A A G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr4:162577480A>G uc003iqh.2 - 7 1330 c.894T>C c.(892-894)AAT>AAC p.N298N FSTL5_uc003iqi.2_Silent_p.N297N|FSTL5_uc010iqv.2_Silent_p.N297N NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 298 Ig-like 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATGTACTCACATTGATGTCTT 0.348 NA 6 8 0 0 0.001168 0 0 C7 730 broad.mit.edu 37 5 40937762 40937762 + Silent SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr5:40937762G>T uc003jmh.2 + 6 651 c.537G>T c.(535-537)CTG>CTT p.L179L C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 179 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TCTACAGGCTGAGTGGAAATG 0.299 NA 11 7 1.58986e-06 1.79283e-06 0.008291 1 0 EPB41L4A 64097 broad.mit.edu 37 5 111519749 111519749 + Missense_Mutation SNP T T A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr5:111519749T>A uc003kpv.1 - 18 1860 c.1586A>T c.(1585-1587)GAC>GTC p.D529V EPB41L4A_uc003kpp.1_Missense_Mutation_p.D156V NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 529 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GTTGTTGGGGTCGGCTTGGTT 0.428 NA 40 82 0 0 0.011902 0 0 TMEM173 340061 broad.mit.edu 37 5 138861279 138861279 + Missense_Mutation SNP G G C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr5:138861279G>C uc003lep.2 - 3 262 c.11C>G c.(10-12)TCC>TGC p.S4C NM_198282 NP_938023 Q86WV6 TM173_HUMAN transmembrane protein 173 4 Cytoplasmic (Potential). activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATGCAGGCTGGAGTGGGGCAT 0.627 NA 13 37 0 0 0.001855 0 0 HLA-H 3136 broad.mit.edu 37 6 29855952 29855952 + Missense_Mutation SNP A A C rs72843343 TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr6:29855952A>C uc010jro.2 + 2 241 c.189A>C c.(187-189)GAA>GAC p.E63D HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H; 0 CACAGACTGAACGAGAGAACC 0.682 NA 3 18 0 0 0.001168 0 0 BAT2 7916 broad.mit.edu 37 6 31599748 31599748 + Missense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr6:31599748C>T uc003nvb.3 + 16 3547 c.3298C>T c.(3298-3300)CGG>TGG p.R1100W BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1100W NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1100 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 AATCCCCAAGCGGCGCCGGCA 0.637 NA 7 53 0 0 0.004482 0 0 LYPLA2P1 653639 broad.mit.edu 37 6 33333333 33333333 + Missense_Mutation SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr6:33333333G>A uc003shx.2 - 1 807 c.673C>T c.(673-675)CCT>TCT p.P225S NR_001444 SubName: Full=Lysophospholipase II; Flags: Fragment; 0 AGTTAGACAGGAGGCAGCAGC 0.577 NA 3 17 0 0 0.004672 0 0 TBX18 9096 broad.mit.edu 37 6 85446869 85446869 + Missense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr6:85446869C>T uc003pkl.1 - 8 1358 c.1358G>A c.(1357-1359)AGG>AAG p.R453K TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 453 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGAGGGAGTCCTGGGCGGGGC 0.602 NA 37 40 0 0 0.004878 0 0 STK31 56164 broad.mit.edu 37 7 23751905 23751905 + Missense_Mutation SNP G G T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr7:23751905G>T uc003sws.3 + 3 217 c.150G>T c.(148-150)CAG>CAT p.Q50H STK31_uc003swt.3_Missense_Mutation_p.Q27H|STK31_uc011jze.1_Missense_Mutation_p.Q50H|STK31_uc010kuq.2_Missense_Mutation_p.Q27H NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 50 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TTTGGGCCCAGGTAAATAGCA 0.373 NA 42 84 1.23713e-20 1.54277e-20 0.01441 1 0 SLC13A1 6561 broad.mit.edu 37 7 122768953 122768953 + Missense_Mutation SNP A A C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr7:122768953A>C uc003vkm.2 - 10 1104 c.1079T>G c.(1078-1080)CTA>CGA p.L360R SLC13A1_uc010lks.2_Missense_Mutation_p.L236R NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 360 Helical; (Potential). integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) ACTAAACCATAGCAGAGCCAT 0.418 NA 15 40 0 0 0.003163 0 0 SLC25A37 51312 broad.mit.edu 37 8 23429006 23429006 + Missense_Mutation SNP T T C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr8:23429006T>C uc003xdo.2 + 4 808 c.655T>C c.(655-657)TAT>CAT p.Y219H SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank NM_016612 NP_057696 Q9NYZ2 MFRN1_HUMAN solute carrier family 25, member 37 219 Helical; Name=4; (Potential).|Solcar 2. ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) CTTCATCACCTATGAGTTCCT 0.657 NA 3 63 0 0 0.009096 0 0 C8orf41 80185 broad.mit.edu 37 8 33361019 33361019 + Missense_Mutation SNP T T C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr8:33361019T>C uc003xjl.3 - 5 1712 c.1187A>G c.(1186-1188)GAT>GGT p.D396G C8orf41_uc003xjk.3_Missense_Mutation_p.D365G|C8orf41_uc010lvv.2_Intron|C8orf41_uc003xjm.3_Missense_Mutation_p.D396G|C8orf41_uc003xjn.1_Missense_Mutation_p.D396G NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 396 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) CTCAGGTCCATCATAAACCTC 0.443 NA 3 192 0 0 0.004672 0 0 KLHL38 340359 broad.mit.edu 37 8 124659239 124659239 + Missense_Mutation SNP T T C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr8:124659239T>C uc003yqs.1 - 2 1390 c.1366A>G c.(1366-1368)AGA>GGA p.R456G NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 456 Kelch 4. 0 CACGAGTTTCTGGAAATGTGA 0.438 NA 53 122 0 0 0.01441 0 0 RNF139 11236 broad.mit.edu 37 8 125498172 125498172 + Silent SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr8:125498172G>A uc003yrc.2 + 2 625 c.282G>A c.(280-282)TTG>TTA p.L94L NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 94 Helical; (Potential). negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTTCAGTGTTGGTGAATTATT 0.428 NA Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 41 96 0 0 0.011902 0 0 ADCY8 114 broad.mit.edu 37 8 132051638 132051638 + Silent SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr8:132051638C>T uc003ytd.3 - 1 1198 c.942G>A c.(940-942)GCG>GCA p.A314A ADCY8_uc010mds.2_Silent_p.A314A NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 314 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGGAAATGACCGCCAGCCGGG 0.587 NA HNSCC(32;0.087) 30 86 0 0 0.013726 0 0 FAM135B 51059 broad.mit.edu 37 8 139151255 139151255 + Missense_Mutation SNP A A G TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr8:139151255A>G uc003yuy.2 - 18 4046 c.3875T>C c.(3874-3876)TTC>TCC p.F1292S FAM135B_uc003yux.2_Missense_Mutation_p.F1193S|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1292 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTGGTAGAGGAAACATTTGCG 0.433 NA HNSCC(54;0.14) 41 86 0 0 0.010771 0 0 PTGS1 5742 broad.mit.edu 37 9 125148924 125148924 + Silent SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr9:125148924C>T uc004bmg.1 + 9 1344 c.1209C>T c.(1207-1209)TAC>TAT p.Y403Y PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Silent_p.Y294Y|PTGS1_uc011lyt.1_Silent_p.Y294Y NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 403 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) AGTACAGCTACGAGCAGTTCT 0.557 NA 14 124 0 0 0.00245 0 0 GTF3C5 9328 broad.mit.edu 37 9 135917627 135917627 + Missense_Mutation SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr9:135917627G>A uc004cci.3 + 2 644 c.307G>A c.(307-309)GCC>ACC p.A103T GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004ccj.3_Missense_Mutation_p.A103T NM_012087 NP_036219 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5 103 transcription factor TFIIIC complex DNA binding|protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) GGGCACTGAGGCCCACTCCGA 0.532 NA 32 116 0 0 0.004289 0 0 NDP 4693 broad.mit.edu 37 X 43817761 43817761 + Missense_Mutation SNP T T C rs104894870 TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chrX:43817761T>C uc004dga.3 - 2 710 c.131A>G c.(130-132)TAT>TGT p.Y44C NM_000266 NP_000257 Q00604 NDP_HUMAN norrin precursor 44 CTCK. Y -> C (in ND). canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception extracellular matrix|extracellular space cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity 0 AGAATCCACATAGTGGTGCCT 0.483 NA 7 88 0 0 0.004482 0 0 RIT1 6016 broad.mit.edu 37 1 155874278 155874283 + In_Frame_Del DEL TGGCTG TGGCTG - TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 TGGCTG TGGCTG - - TGGCTG TGGCTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:155874278_155874283delTGGCTG uc001fmh.1 - 5 435_440 c.248_253delCAGCCA c.(247-255)ACAGCCATG>ATG p.TA83del RIT1_uc010pgr.1_In_Frame_Del_p.TA47del NM_006912 NP_008843 Q92963 RIT1_HUMAN Ras-like without CAAX 1 83_84 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) TGGTCCCGCATGGCTGTAAACTCTGC 0.417 NA 35 35 --- --- --- --- NA NA NA NA NA EDEM3 80267 broad.mit.edu 37 1 184690453 184690454 + Frame_Shift_Ins INS - - C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr1:184690453_184690454insC uc010pok.1 - 9 1181_1182 c.920_921insG c.(919-921)GGAfs p.G307fs EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Frame_Shift_Ins_p.G307fs|EDEM3_uc001gqy.2_Frame_Shift_Ins_p.G230fs NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 307 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 AACTGTCATCTCCAAGCAAGAC 0.297 NA 60 37 --- --- --- --- NA NA NA NA NA NLRC5 84166 broad.mit.edu 37 16 57073747 57073747 + Frame_Shift_Del DEL G G - TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr16:57073747delG uc002ekk.1 + 16 3081 c.2856delG c.(2854-2856)AAGfs p.K952fs NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Frame_Shift_Del_p.K701fs|NLRC5_uc002ekl.2_Frame_Shift_Del_p.K757fs|NLRC5_uc002ekm.2_Frame_Shift_Del_p.K757fs|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_5'Flank|NLRC5_uc002ekp.1_5'Flank NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 952 LRR 7. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) AGGAGCAGAAGGGGCCCCAGG 0.572 NA 80 132 --- --- --- --- NA NA NA NA NA TMCO7 79613 broad.mit.edu 37 16 68894367 68894367 + Frame_Shift_Del DEL A A - TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr16:68894367delA uc002ewi.3 + 2 687 c.675delA c.(673-675)GCAfs p.A225fs TMCO7_uc002ewh.2_Frame_Shift_Del_p.A225fs NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 225 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) ATATCGCAGCAGGTCTGTGCC 0.493 NA 71 118 --- --- --- --- NA NA NA NA NA SYT4 6860 broad.mit.edu 37 18 40854284 40854284 + Frame_Shift_Del DEL C C - TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr18:40854284delC uc002law.2 - 2 479 c.110delG c.(109-111)TGCfs p.C37fs SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Frame_Shift_Del_p.C19fs|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 37 Helical; (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TCTCTGACAGCAGATCCATGC 0.408 NSCLC(85;81 1419 2855 22820 35912) NA 11 38 --- --- --- --- NA NA NA NA NA ZNF513 130557 broad.mit.edu 37 2 27600974 27600985 + In_Frame_Del DEL GGGCCCTGGGGC GGGCCCTGGGGC - TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 GGGCCCTGGGGC GGGCCCTGGGGC - - GGGCCCTGGGGC GGGCCCTGGGGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr2:27600974_27600985delGGGCCCTGGGGC uc002rkk.2 - 4 1253_1264 c.1053_1064delGCCCCAGGGCCC c.(1051-1065)GGGCCCCAGGGCCCC>GGC p.PQGP352del ZNF513_uc002rkj.2_In_Frame_Del_p.PQGP290del NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 352_355 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGTCACTGGGGCCCTGGGGCCCCCCACTGG 0.642 NA 19 120 --- --- --- --- NA NA NA NA NA SGEF 26084 broad.mit.edu 37 3 153839829 153839829 + Frame_Shift_Del DEL T T - TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr3:153839829delT uc011bog.1 + 2 259 c.48delT c.(46-48)CCTfs p.P16fs uc003ezu.1_5'Flank|SGEF_uc011boh.1_Frame_Shift_Del_p.P16fs NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 16 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCATAACCCCTTTGTGGCGGA 0.612 NA 7 21 --- --- --- --- NA NA NA NA NA RBM16 22828 broad.mit.edu 37 6 155114064 155114065 + Frame_Shift_Ins INS - - A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 59dad620-51f8-4c12-8b09-e635fbde126e dff88708-c643-4f32-a4e0-88cc1d24807a g.chr6:155114064_155114065insA uc003qqa.2 + 6 661_662 c.429_430insA c.(427-432)GTCACAfs p.V143fs RBM16_uc011efj.1_Frame_Shift_Ins_p.V209fs|RBM16_uc011efk.1_Frame_Shift_Ins_p.V188fs|RBM16_uc003qpz.2_Frame_Shift_Ins_p.V143fs|RBM16_uc010kji.2_Frame_Shift_Ins_p.V164fs NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 143_144 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) CTCCAGTTGTCACACCTGTTTT 0.396 NA 18 23 --- --- --- --- NA NA NA NA NA