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 SDF4 51150 broad.mit.edu 37 1 1159219 1159219 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr1:1159219G>A uc001adh.3 - 3 785 c.456C>T c.(454-456)GAC>GAT p.D152D SDF4_uc001adg.2_5'Flank|SDF4_uc001adi.3_Silent_p.D152D|SDF4_uc009vjv.2_Silent_p.D30D|SDF4_uc009vjw.2_RNA|SDF4_uc001adj.1_Silent_p.D30D NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 152 EF-hand 2.|2 (Potential). cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) TACCGTCCCCGTCAGGGTCCA 0.697 NA 7 22 0 0 0.001984 0 0 NOL9 79707 broad.mit.edu 37 1 6610657 6610657 + Missense_Mutation SNP T T A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr1:6610657T>A uc001ans.2 - 2 434 c.415A>T c.(415-417)ATC>TTC p.I139F NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 139 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) ACACGACAGATCCCACTAAAA 0.398 NA 15 108 0 0 0.00245 0 0 ZNF687 57592 broad.mit.edu 37 1 151260444 151260444 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr1:151260444C>G uc001exq.2 + 2 1775 c.1677C>G c.(1675-1677)ATC>ATG p.I559M ZNF687_uc001exp.1_Missense_Mutation_p.I568M|ZNF687_uc009wmo.2_Missense_Mutation_p.I559M|ZNF687_uc009wmp.2_Missense_Mutation_p.I559M NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCATGCGCATCGAGGTCACCT 0.627 NA 63 112 0 0 0.01441 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155932776 155932776 + Missense_Mutation SNP C C A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr1:155932776C>A uc001fmt.2 - 8 1041 c.923G>T c.(922-924)GGC>GTC p.G308V ARHGEF2_uc001fmr.2_Missense_Mutation_p.G280V|ARHGEF2_uc001fms.2_Missense_Mutation_p.G307V|ARHGEF2_uc001fmu.2_Missense_Mutation_p.G352V|ARHGEF2_uc010pgt.1_Missense_Mutation_p.G281V|ARHGEF2_uc010pgu.1_Missense_Mutation_p.G353V NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 308 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CCGGGTGCTGCCAGGGCACAG 0.597 Melanoma(178;35 2768 6610 28839) NA 23 151 9.95505e-16 1.12275e-15 0.014323 1 0 PDC 5132 broad.mit.edu 37 1 186413131 186413131 + Nonsense_Mutation SNP C C A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr1:186413131C>A uc001gsa.2 - 4 794 c.721G>T c.(721-723)GAA>TAA p.E241* PDC_uc001grz.2_Nonsense_Mutation_p.E189* NM_002597 NP_002588 P20941 PHOS_HUMAN phosducin isoform a 241 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity skin(1) 1 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) TCTTCTTCTTCTATTTTGGTA 0.353 NA 8 221 0.000157383 0.000171069 0.00308 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204410669 204410669 + Missense_Mutation SNP T T C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr1:204410669T>C uc001haw.2 - 22 3658 c.3179A>G c.(3178-3180)AAT>AGT p.N1060S PIK3C2B_uc010pqv.1_Missense_Mutation_p.N1032S NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1060 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGGGACAGCATTGGAGTTGAA 0.507 NA 16 82 0 0 0.006122 0 0 OBSCN 84033 broad.mit.edu 37 1 228404762 228404762 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr1:228404762C>G uc009xez.1 + 8 2470 c.2426C>G c.(2425-2427)GCC>GGC p.A809G OBSCN_uc001hsn.2_Missense_Mutation_p.A809G NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 809 Ig-like 8. 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) TGTGTGGATGCCGTGGCTGGG 0.647 NA 6 23 0 0 0.00499 0 0 CAPN9 10753 broad.mit.edu 37 1 230931001 230931001 + Silent SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr1:230931001C>T uc001htz.1 + 18 2076 c.1963C>T c.(1963-1965)CTG>TTG p.L655L CAPN9_uc009xfg.1_Silent_p.L592L|CAPN9_uc001hua.1_Silent_p.L629L NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 655 Domain IV. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CCTCAACTGCCTGGTCCGGCT 0.597 NA 3 49 0 0 0.004672 0 0 GATA3 2625 broad.mit.edu 37 10 8106012 8106012 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr10:8106012G>A uc001ika.2 + 4 1389 c.832G>A c.(832-834)GGC>AGC p.G278S GATA3_uc001ijz.2_Missense_Mutation_p.G279S NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 278 GATA-type 1. aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 GCGGCGAGATGGCACGGGACA 0.557 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 34 137 0 0 0.003271 0 0 ITGA8 8516 broad.mit.edu 37 10 15697389 15697389 + Missense_Mutation SNP C C A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr10:15697389C>A uc001ioc.1 - 11 965 c.965G>T c.(964-966)GGA>GTA p.G322V ITGA8_uc010qcb.1_Missense_Mutation_p.G307V NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 322 Extracellular (Potential).|FG-GAP 5. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AACGGTATATCCAAAATAAGA 0.318 NA 14 120 4.3838e-07 4.87089e-07 0.001855 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 NA 4 99 0 0 0.009096 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr10:51093329C>T uc001jif.2 - 8 2011 c.1750G>A c.(1750-1752)GCA>ACA p.A584T PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T NM_003631 NP_003622 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity ovary(2) 2 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318 NA 4 100 0 0 0.009096 0 0 C10orf12 26148 broad.mit.edu 37 10 98742267 98742267 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr10:98742267G>A uc001kmv.2 + 1 1227 c.1120G>A c.(1120-1122)GAT>AAT p.D374N C10orf12_uc009xvg.1_Missense_Mutation_p.D684N NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 374 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AGTCAGTGAAGATGTCATTTC 0.517 NA 20 224 0 0 0.008871 0 0 MUC5B 727897 broad.mit.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr11:1265999T>C uc009ycr.1 + 48 9929 c.9803T>C c.(9802-9804)CTT>CCT p.L3268P MUC5B_uc001ltb.2_Missense_Mutation_p.L2633P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2630 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACGCACGCTTCCAGTGTGG 0.637 NA 4 100 0 0 0.000602 0 0 OR51B5 282763 broad.mit.edu 37 11 5364346 5364346 + Missense_Mutation SNP T T A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr11:5364346T>A uc001map.1 - 1 409 c.409A>T c.(409-411)ACT>TCT p.T137S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.T137S NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTACTCGAGTATTAGTAAGT 0.458 NA 34 87 0 0 0.013726 0 0 SF1 7536 broad.mit.edu 37 11 64534716 64534716 + Nonsense_Mutation SNP G G T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr11:64534716G>T uc001obb.1 - 11 1727 c.1350C>A c.(1348-1350)TAC>TAA p.Y450* SF1_uc010rnm.1_Nonsense_Mutation_p.Y142*|SF1_uc010rnn.1_Nonsense_Mutation_p.Y424*|SF1_uc001oaz.1_Nonsense_Mutation_p.Y575*|SF1_uc001oba.1_Nonsense_Mutation_p.Y450*|SF1_uc001obc.1_Nonsense_Mutation_p.Y450*|SF1_uc001obd.1_Missense_Mutation_p.P452T|SF1_uc001obe.1_Missense_Mutation_p.P337T|SF1_uc010rno.1_Nonsense_Mutation_p.Y335* NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 450 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 TACTTCCCAGGTACTGATCTT 0.542 NA OREG0021062 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 139 2.48696e-23 2.9144e-23 0.003271 1 0 TULP3 7289 broad.mit.edu 37 12 3047432 3047432 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr12:3047432G>A uc010seh.1 + 10 1257 c.1176G>A c.(1174-1176)CAG>CAA p.Q392Q TULP3_uc009zec.1_Silent_p.Q119Q|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Silent_p.Q392Q|TULP3_uc010sei.1_Silent_p.Q216Q NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 392 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AGAACTTCCAGATAGTCCACA 0.532 NA 5 123 0 0 0.001984 0 0 DDX12 440081 broad.mit.edu 37 12 9574020 9574020 + Silent SNP T T C rs149364690 by1000genomes TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr12:9574020T>C uc010sgs.1 - 20 2211 c.2016A>G c.(2014-2016)CTA>CTG p.L672L DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 ACGTGAATTCTAGCGGCTGGT 0.597 NA 4 37 0 0 0.001984 0 0 ARID2 196528 broad.mit.edu 37 12 46246594 46246594 + Missense_Mutation SNP G G C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr12:46246594G>C uc001ros.1 + 15 4688 c.4688G>C c.(4687-4689)AGC>ACC p.S1563T ARID2_uc001ror.2_Missense_Mutation_p.S1563T|ARID2_uc009zkg.1_Missense_Mutation_p.S1019T|ARID2_uc009zkh.1_Missense_Mutation_p.S1190T|ARID2_uc001rou.1_Missense_Mutation_p.S897T NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1563 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) GCAGATCCAAGCACTGTAGCT 0.448 NA 4 95 0 0 0.009096 0 0 CNOT2 4848 broad.mit.edu 37 12 70704789 70704789 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr12:70704789G>A uc001svv.2 + 3 742 c.163G>A c.(163-165)GAA>AAA p.E55K CNOT2_uc009zro.2_Missense_Mutation_p.E55K|CNOT2_uc009zrp.2_Missense_Mutation_p.E35K|CNOT2_uc009zrq.2_Missense_Mutation_p.E55K NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 55 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ACATCGGTCAGAAAAAGATGT 0.393 NA 4 112 0 0 0.001168 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100466570 100466570 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr12:100466570G>A uc001tgq.2 - 12 1658 c.1429C>T c.(1429-1431)CGT>TGT p.R477C UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.R477C|UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.R127C NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 477 ovary(2) 2 GGGGAAGAACGACATTGTTCC 0.343 NA 22 90 0 0 0.003954 0 0 MYL2 4633 broad.mit.edu 37 12 111352074 111352074 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr12:111352074C>T uc001try.3 - 4 261 c.190G>A c.(190-192)GAA>AAA p.E64K MYL2_uc001trx.3_Missense_Mutation_p.E45K NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 64 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 TCAATTTCTTCATTTTTCACG 0.448 GBM(14;268 426 18829 21617 25540) NA 9 89 0 0 0.004482 0 0 GOLGA3 2802 broad.mit.edu 37 12 133381541 133381541 + Missense_Mutation SNP A A C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr12:133381541A>C uc001ukz.1 - 7 1917 c.1358T>G c.(1357-1359)GTG>GGG p.V453G GOLGA3_uc001ula.1_Missense_Mutation_p.V453G|GOLGA3_uc001ulb.2_Missense_Mutation_p.V453G NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 453 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGCACTCCACCTGCGCCTG 0.597 NA 7 27 0 0 0.006122 0 0 PDS5B 23047 broad.mit.edu 37 13 33225967 33225967 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr13:33225967G>A uc010abf.2 + 3 293 c.135G>A c.(133-135)ATG>ATA p.M45I PDS5B_uc001uun.2_Missense_Mutation_p.M45I|PDS5B_uc001uuo.2_Missense_Mutation_p.M45I|PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 45 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TTATGGATATGGACCAGGACT 0.318 NA 13 210 0 0 0.013537 0 0 RCBTB2 1102 broad.mit.edu 37 13 49076005 49076005 + Splice_Site SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr13:49076005C>T uc001vch.2 - 12 1489 c.1118_splice c.e12-1 p.E373_splice RCBTB2_uc010tgg.1_Splice_Site_p.E378_splice|RCBTB2_uc001vci.2_Splice_Site_p.E349_splice|RCBTB2_uc010tgh.1_Splice_Site_p.E99_splice|RCBTB2_uc001vcj.2_Splice_Site_p.E325_splice|RCBTB2_uc010acv.1_Splice_Site NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) TCATCAGGTTCTAGGAGAATA 0.433 NA 4 63 0 0 0.009096 0 0 ADAM21 8747 broad.mit.edu 37 14 70924778 70924778 + Missense_Mutation SNP G G C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr14:70924778G>C uc001xmd.2 + 1 562 c.562G>C c.(562-564)GAA>CAA p.E188Q NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 188 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GTTGGAATTTGAAGAGGCTGA 0.438 NA 13 124 0 0 0.001855 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412632 105412632 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr14:105412632G>A uc010axc.1 - 7 9276 c.9156C>T c.(9154-9156)CCC>CCT p.P3052P AHNAK2_uc001ypx.2_Silent_p.P2952P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3052 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGCTCCCTCGGGAACGTGGC 0.607 NA 31 205 0 0 0.010818 0 0 OR4N3P 390539 broad.mit.edu 37 15 22414053 22414053 + Missense_Mutation SNP C C A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr15:22414053C>A uc001yuf.2 + 1 352 c.352C>A c.(352-354)CTG>ATG p.L118M NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 GGTGGAGCTTCTGATGGTCTT 0.507 NA 8 303 3.07112e-06 3.38726e-06 0.010729 1 0 C15orf2 23742 broad.mit.edu 37 15 24922679 24922679 + Silent SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr15:24922679C>T uc001ywo.2 + 1 2139 c.1665C>T c.(1663-1665)TCC>TCT p.S555S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 555 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CAGTCATTTCCACTGTCACAA 0.488 NA 13 247 0 0 0.003163 0 0 AQR 9716 broad.mit.edu 37 15 35198842 35198842 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr15:35198842G>A uc001ziv.2 - 18 1916 c.1735C>T c.(1735-1737)CGG>TGG p.R579W NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 579 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GGTCTCCTCCGGTCAAACTTA 0.408 NA 4 147 0 0 0.009096 0 0 LMAN1L 79748 broad.mit.edu 37 15 75115013 75115013 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr15:75115013G>A uc002ayt.1 + 11 1164 c.1162G>A c.(1162-1164)GGA>AGA p.G388R LMAN1L_uc010bke.1_Missense_Mutation_p.G376R NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 388 Lumenal (Potential). ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 CCTGCTCCATGGACAGTGGAC 0.607 NA 19 114 0 0 0.007413 0 0 MAN2A2 4122 broad.mit.edu 37 15 91449666 91449666 + Silent SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr15:91449666C>G uc010bnz.2 + 6 889 c.774C>G c.(772-774)TCC>TCG p.S258S MAN2A2_uc010boa.2_Silent_p.S300S|MAN2A2_uc002bqc.2_Silent_p.S258S|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 258 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) AGGCCAATTCCCACTACTTTG 0.572 NA 23 105 0 0 0.00278 0 0 RHBDL1 9028 broad.mit.edu 37 16 726739 726739 + Missense_Mutation SNP A A G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr16:726739A>G uc002cis.1 + 2 491 c.464A>G c.(463-465)GAC>GGC p.D155G RHBDL1_uc002cir.1_Missense_Mutation_p.D90G|RHBDL1_uc010uun.1_Missense_Mutation_p.D90G NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 155 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) CTGCCCCGGGACGGGCCGCTG 0.647 NA 31 140 0 0 0.003755 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858028 9858028 + Nonsense_Mutation SNP C C A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr16:9858028C>A uc002czo.3 - 13 3921 c.3373G>T c.(3373-3375)GAG>TAG p.E1125* GRIN2A_uc010uym.1_Nonsense_Mutation_p.E1125*|GRIN2A_uc010uyn.1_Nonsense_Mutation_p.E968*|GRIN2A_uc002czr.3_Nonsense_Mutation_p.E1125* NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1125 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAACCAGGCTCCTTCTCACCA 0.507 NA 33 369 1.42033e-22 1.65155e-22 0.004289 1 0 DNAH3 55567 broad.mit.edu 37 16 20996932 20996932 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr16:20996932C>G uc010vbe.1 - 48 7132 c.7132G>C c.(7132-7134)GAG>CAG p.E2378Q DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2378 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TCAGTGATCTCATCGTAGATT 0.443 NA 13 279 0 0 0.001855 0 0 Unknown 0 broad.mit.edu 37 16 28354463 28354463 + Missense_Mutation SNP T T C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr16:28354463T>C uc010vcq.1 - 7 742 c.689A>G c.(688-690)TAC>TGC p.Y230C uc010vcr.1_Missense_Mutation_p.Y248C SubName: Full=LOC728741 protein; NA GTAGGGCCAGTAGGGCAATCC 0.478 NA 5 116 0 0 0.00308 0 0 C16orf58 64755 broad.mit.edu 37 16 31502203 31502203 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr16:31502203C>G uc002eci.1 - 13 1372 c.1360G>C c.(1360-1362)GAG>CAG p.E454Q C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Missense_Mutation_p.E192Q NM_022744 NP_073581 Q96GQ5 CP058_HUMAN hypothetical protein LOC64755 454 integral to membrane ovary(1)|breast(1) 2 GCCCTCCACTCATCCACCTCT 0.607 NA 9 181 0 0 0.006214 0 0 Unknown 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr17:21730847G>T uc002gyy.3 + 2 274 c.149G>T c.(148-150)CGG>CTG p.R50L SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA GGCAAGCAGCGGGAAGATGGC 0.522 NA 3 49 0.004672 0.00500571 0.004672 1 0 CDK12 51755 broad.mit.edu 37 17 37619172 37619172 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr17:37619172C>T uc010cvv.2 + 1 1434 c.848C>T c.(847-849)TCG>TTG p.S283L CDK12_uc010wef.1_Missense_Mutation_p.S283L|CDK12_uc002hrw.3_Missense_Mutation_p.S283L NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 283 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 AAGGAGCCTTCGGCCTACCAG 0.552 NA TCGA Ovarian(9;0.13) 13 149 0 0 0.00245 0 0 MTMR4 9110 broad.mit.edu 37 17 56573109 56573109 + Missense_Mutation SNP C C A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr17:56573109C>A uc002iwj.2 - 16 2504 c.2394G>T c.(2392-2394)ATG>ATT p.M798I NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 798 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCACACCTAGCATGGAGTCTG 0.527 NA 56 209 6.3237e-29 7.52821e-29 0.01441 1 0 OR1M1 125963 broad.mit.edu 37 19 9204692 9204692 + Missense_Mutation SNP G G A rs144608760 TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr19:9204692G>A uc010xkj.1 + 1 772 c.772G>A c.(772-774)GTC>ATC p.V258I NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 CACCATTGGCGTCTATCTGTG 0.557 NA 67 300 0 0 0.01441 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132627 11132627 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr19:11132627C>T uc002mqf.3 + 19 3127 c.2843C>T c.(2842-2844)GCC>GTC p.A948V SMARCA4_uc010dxp.2_Missense_Mutation_p.A948V|SMARCA4_uc010dxo.2_Missense_Mutation_p.A948V|SMARCA4_uc002mqg.1_Missense_Mutation_p.A948V|SMARCA4_uc010dxq.2_Missense_Mutation_p.A948V|SMARCA4_uc010dxr.2_Missense_Mutation_p.A948V|SMARCA4_uc002mqj.3_Missense_Mutation_p.A948V|SMARCA4_uc010dxs.2_Missense_Mutation_p.A948V|SMARCA4_uc010dxt.1_Missense_Mutation_p.A168V|SMARCA4_uc002mqh.3_Missense_Mutation_p.A71V|SMARCA4_uc002mqi.1_Missense_Mutation_p.A151V NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 948 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCACCCTTTGCCATGACCGGG 0.587 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 4 132 0 0 0.009096 0 0 PRKCG 5582 broad.mit.edu 37 19 54387495 54387495 + Missense_Mutation SNP G G T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr19:54387495G>T uc002qcq.1 + 3 565 c.283G>T c.(283-285)GAC>TAC p.D95Y PRKCG_uc010eqz.1_Missense_Mutation_p.D95Y|PRKCG_uc010yef.1_Missense_Mutation_p.D95Y|PRKCG_uc010yeg.1_Missense_Mutation_p.D95Y|PRKCG_uc010yeh.1_Missense_Mutation_p.G19V NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 95 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCCCCAGACGGACGTGAGTGC 0.582 NA 5 144 4.096e-09 4.58507e-09 0.001168 1 0 CCT4 10575 broad.mit.edu 37 2 62104098 62104098 + Missense_Mutation SNP T T G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:62104098T>G uc002sbo.2 - 7 883 c.734A>C c.(733-735)AAG>ACG p.K245T CCT4_uc010ypp.1_Missense_Mutation_p.K189T|CCT4_uc010ypq.1_Missense_Mutation_p.K95T|CCT4_uc010ypr.1_Missense_Mutation_p.K189T|CCT4_uc010yps.1_Missense_Mutation_p.K215T NM_006430 NP_006421 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 245 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding ovary(2) 2 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) AAGCCCAATCTTGGCCTTTTC 0.398 NA 28 237 0 0 0.010818 0 0 MRPL53 116540 broad.mit.edu 37 2 74699752 74699752 + Silent SNP A A T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:74699752A>T uc002sln.2 - 1 176 c.36T>A c.(34-36)CCT>CCA p.P12P CCDC142_uc002slo.2_RNA NM_053050 NP_444278 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 precursor 12 mitochondrion|ribosome 0 CCTGTTTGACAGGCCGCAGAC 0.602 NA 3 97 0 0 0.004672 0 0 SCTR 6344 broad.mit.edu 37 2 120209616 120209616 + Missense_Mutation SNP G G C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:120209616G>C uc002tma.2 - 9 1117 c.891C>G c.(889-891)ATC>ATG p.I297M SCTR_uc002tlz.2_Missense_Mutation_p.I119M NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 297 Helical; Name=5; (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) GACCACGAATGATCCACCAGA 0.597 NA 4 27 0 0 0.009096 0 0 TMEM163 81615 broad.mit.edu 37 2 135215671 135215671 + Silent SNP C C G rs17852356 TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:135215671C>G uc002ttx.2 - 7 807 c.741G>C c.(739-741)TCG>TCC p.S247S TMEM163_uc002tty.2_RNA NM_030923 NP_112185 Q8TC26 TM163_HUMAN transmembrane protein 163 247 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(221;0.154) ACCAGACCGCCGAGTCATGCT 0.537 NA 7 207 0 0 0.00308 0 0 LRP1B 53353 broad.mit.edu 37 2 141072616 141072616 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:141072616C>G uc002tvj.1 - 83 13665 c.12693G>C c.(12691-12693)GAG>GAC p.E4231D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4231 Extracellular (Potential).|EGF-like 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATCACCTTTCTCATTTAAAA 0.383 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 6 110 0 0 0.001168 0 0 ACVR2A 92 broad.mit.edu 37 2 148677879 148677879 + Missense_Mutation SNP A A G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:148677879A>G uc002twg.2 + 9 1312 c.1043A>G c.(1042-1044)GAG>GGG p.E348G ACVR2A_uc010zbn.1_Missense_Mutation_p.E240G|ACVR2A_uc002twh.2_Missense_Mutation_p.E348G NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 348 Cytoplasmic (Potential).|Protein kinase. E -> V (in Ref. 4; BAA06548). activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTAAAATTTGAGGCTGGCAAG 0.368 NA 3 168 0 0 0.009096 0 0 WDSUB1 151525 broad.mit.edu 37 2 160139521 160139521 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:160139521G>A uc002uaj.3 - 2 209 c.60C>T c.(58-60)TTC>TTT p.F20F WDSUB1_uc002uak.3_Silent_p.F20F|WDSUB1_uc002ual.3_Silent_p.F20F|WDSUB1_uc002uam.3_Silent_p.F20F|WDSUB1_uc010foo.2_Silent_p.F20F NM_152528 NP_689741 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain 20 WD 1. ubiquitin ligase complex ubiquitin-protein ligase activity 0 GGGAAAAGGAGAAGGCACAGC 0.408 NA 4 144 0 0 0.009096 0 0 DNAH7 56171 broad.mit.edu 37 2 196642529 196642529 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:196642529C>T uc002utj.3 - 59 11160 c.11059G>A c.(11059-11061)GGT>AGT p.G3687S DNAH7_uc002uti.3_Missense_Mutation_p.G170S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3687 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CTTACATCACCAGAAGGAGGA 0.358 NA 3 129 0 0 0.009096 0 0 DNAH7 56171 broad.mit.edu 37 2 196664038 196664038 + Silent SNP T T A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:196664038T>A uc002utj.3 - 55 10436 c.10335A>T c.(10333-10335)CTA>CTT p.L3445L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3445 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CAGCAAATTTTAGAAGGGCAG 0.408 NA 53 243 0 0 0.01441 0 0 ANKMY1 51281 broad.mit.edu 37 2 241451413 241451413 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr2:241451413G>A uc002vyz.1 - 10 2113 c.1884C>T c.(1882-1884)GAC>GAT p.D628D ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.D717D|ANKMY1_uc002vzb.1_Silent_p.D389D|ANKMY1_uc002vzc.1_Silent_p.D487D|ANKMY1_uc002vzd.1_Silent_p.D487D NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 628 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGGGCAGCAGGTCCAGCTGTG 0.672 NA 12 64 0 0 0.013537 0 0 C20orf26 26074 broad.mit.edu 37 20 20322542 20322542 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr20:20322542C>T uc002wru.2 + 26 3566 c.3490C>T c.(3490-3492)CGC>TGC p.R1164C C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1164 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GAAAGAGTTACGCCAAATCTT 0.443 NA 21 60 0 0 0.010504 0 0 NFATC2 4773 broad.mit.edu 37 20 50139845 50139845 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr20:50139845G>A uc002xwd.2 - 2 1155 c.935C>T c.(934-936)ACG>ATG p.T312M NFATC2_uc002xwc.2_Missense_Mutation_p.T312M|NFATC2_uc010zyv.1_Missense_Mutation_p.T93M|NFATC2_uc010zyw.1_Missense_Mutation_p.T93M|NFATC2_uc010zyx.1_Missense_Mutation_p.T292M|NFATC2_uc010zyy.1_Missense_Mutation_p.T93M|NFATC2_uc010zyz.1_Missense_Mutation_p.T93M|NFATC2_uc002xwe.2_Missense_Mutation_p.T292M NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 312 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) AGGCGAGTCCGTGGCGAGGCT 0.687 NA 3 28 0 0 0.009096 0 0 SPO11 23626 broad.mit.edu 37 20 55909089 55909089 + Missense_Mutation SNP G G A rs141106732 TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr20:55909089G>A uc002xye.2 + 5 541 c.448G>A c.(448-450)GTC>ATC p.V150I SPO11_uc002xyf.2_Missense_Mutation_p.V112I NM_012444 NP_036576 Q9Y5K1 SPO11_HUMAN meiotic recombination protein SPO11 isoform a 150 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity breast(2)|skin(1) 3 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) CCAGACTGTCGTCGACAATAT 0.269 NA Editing_and_processing_nucleases 11 40 0 0 0.013537 0 0 SLC17A9 63910 broad.mit.edu 37 20 61588916 61588916 + Silent SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr20:61588916C>G uc002yea.3 + 3 565 c.381C>G c.(379-381)CTC>CTG p.L127L SLC17A9_uc002ydz.3_Silent_p.L121L|SLC17A9_uc011aap.1_Silent_p.L147L NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 127 Helical; (Potential). exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 CACGCATCCTCATGGGCTTGC 0.577 NA 3 82 0 0 0.004672 0 0 LCA5L 150082 broad.mit.edu 37 21 40778294 40778294 + Silent SNP G G T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr21:40778294G>T uc002yxu.2 - 10 1840 c.1527C>A c.(1525-1527)GGC>GGA p.G509G LCA5L_uc002yxv.2_Silent_p.G509G NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 509 0 Prostate(19;1.2e-06) AGGGAGCAGTGCCTTTGCCAA 0.453 NA 23 58 1.90627e-21 2.19954e-21 0.012319 1 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr21:44524456G>A uc002zda.1 - 2 185 c.101C>T c.(100-102)TCT>TTT p.S34F U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 34 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTGCAACCGAGAGCACCTGTC 0.358 NA 26 48 0 0 0.008361 0 0 GGT1 2678 broad.mit.edu 37 22 25010819 25010819 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr22:25010819C>G uc003aan.1 + 6 728 c.241C>G c.(241-243)CAC>GAC p.H81D GGT1_uc003aas.1_Missense_Mutation_p.H81D|GGT1_uc003aat.1_Missense_Mutation_p.H81D|GGT1_uc003aau.1_Missense_Mutation_p.H81D|GGT1_uc003aav.1_Missense_Mutation_p.H81D|GGT1_uc003aaw.1_Missense_Mutation_p.H81D|GGT1_uc003aax.1_Missense_Mutation_p.H81D NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor 81 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) CATGAATGCCCACAGCATGGG 0.622 NA 12 109 0 0 0.013537 0 0 ATP2B2 491 broad.mit.edu 37 3 10401606 10401606 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr3:10401606G>A uc003bvt.2 - 13 2300 c.1861C>T c.(1861-1863)CGC>TGC p.R621C ATP2B2_uc003bvv.2_Missense_Mutation_p.R576C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R576C|ATP2B2_uc010hdo.2_Missense_Mutation_p.R326C NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 621 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CTGTACATGCGGAAGCTCTCG 0.597 Ovarian(125;1619 1709 15675 19819 38835) NA 64 117 0 0 0.01441 0 0 FAM19A4 151647 broad.mit.edu 37 3 68802078 68802078 + Silent SNP G G C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr3:68802078G>C uc003dnh.1 - 4 665 c.222C>G c.(220-222)GTC>GTG p.V74V FAM19A4_uc003dni.1_Silent_p.V74V NM_182522 NP_872328 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine 74 extracellular region skin(2) 2 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) AAGAGCACTTGACCGTTTGTG 0.537 NA 11 178 0 0 0.013537 0 0 TBC1D23 55773 broad.mit.edu 37 3 100009497 100009497 + Silent SNP T T G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr3:100009497T>G uc003dtt.2 + 5 729 c.552T>G c.(550-552)TCT>TCG p.S184S TBC1D23_uc003dts.2_Silent_p.S184S NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 184 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 AGCTTTGTTCTTATCTTGATA 0.363 NA 6 113 0 0 0.001168 0 0 HHLA2 11148 broad.mit.edu 37 3 108076844 108076844 + Missense_Mutation SNP A A G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr3:108076844A>G uc003dwy.3 + 6 1006 c.839A>G c.(838-840)AAT>AGT p.N280S HHLA2_uc011bhl.1_Missense_Mutation_p.N216S|HHLA2_uc010hpu.2_Missense_Mutation_p.N280S|HHLA2_uc003dwz.2_Missense_Mutation_p.N280S NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 280 Ig-like V-type 2. integral to membrane ovary(1) 1 TCCTCACAAAATACAATTATC 0.378 NA 7 219 0 0 0.004482 0 0 SEC61A1 29927 broad.mit.edu 37 3 127785935 127785935 + Nonsense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr3:127785935C>T uc003ekb.2 + 9 1100 c.916C>T c.(916-918)CAA>TAA p.Q306* RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Nonsense_Mutation_p.Q253*|SEC61A1_uc003ekd.2_Nonsense_Mutation_p.Q186*|SEC61A1_uc003ekg.2_5'UTR NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit 306 Helical; (Potential). protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 TGTCATCTCCCAAATGCTCTC 0.527 NA 60 206 0 0 0.01441 0 0 RAB7A 7879 broad.mit.edu 37 3 128514237 128514237 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr3:128514237G>A uc003eks.1 + 2 259 c.27G>A c.(25-27)CTG>CTA p.L9L RAB7A_uc010hsv.1_Silent_p.L9L|RAB7A_uc003ekt.2_5'Flank NM_004637 NP_004628 P51149 RAB7A_HUMAN RAB7, member RAS oncogene family 9 endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding 0 GBM - Glioblastoma multiforme(114;0.231) AAGTGTTGCTGAAGGTTATCA 0.453 NA OREG0015781 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 165 0 0 0.001168 0 0 SENP5 205564 broad.mit.edu 37 3 196613336 196613336 + Silent SNP T T C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr3:196613336T>C uc003fwz.3 + 2 1533 c.1284T>C c.(1282-1284)CCT>CCC p.P428P SENP5_uc011bty.1_Silent_p.P428P NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 428 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) TAGATGGGCCTGTGTCCCAAA 0.468 Ovarian(47;891 1095 11174 13858 51271) NA 3 131 0 0 0.004672 0 0 MTTP 4547 broad.mit.edu 37 4 100532564 100532564 + Missense_Mutation SNP T T C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr4:100532564T>C uc003hvc.3 + 15 2199 c.1943T>C c.(1942-1944)CTG>CCG p.L648P MTTP_uc011cej.1_Missense_Mutation_p.L675P NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 648 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGAAGTAACCTGAACATCTTT 0.433 NA 104 185 0 0 0.01441 0 0 TACR3 6870 broad.mit.edu 37 4 104640578 104640578 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr4:104640578G>A uc003hxe.1 - 1 398 c.255C>T c.(253-255)ATC>ATT p.I85I NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 85 Helical; Name=1; (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) ACCAGAGCGCGATGCGCCAGG 0.647 NA 14 171 0 0 0.004007 0 0 CDH6 1004 broad.mit.edu 37 5 31317961 31317961 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr5:31317961G>A uc003jhe.1 + 11 2138 c.1812G>A c.(1810-1812)GCG>GCA p.A604A CDH6_uc003jhd.1_Silent_p.A604A NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 604 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 ATGCGGAGGCGCTCATCCACC 0.582 NA 5 172 0 0 0.000602 0 0 BDP1 55814 broad.mit.edu 37 5 70837459 70837459 + Missense_Mutation SNP A A C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr5:70837459A>C uc003kbp.1 + 29 6464 c.6201A>C c.(6199-6201)AGA>AGC p.R2067S BDP1_uc003kbo.2_Missense_Mutation_p.R2067S|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2067 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAAGTTCCAGAGAAGAAATAA 0.313 NA 34 120 0 0 0.003271 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801620 140801620 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr5:140801620G>A uc003lkq.1 + 1 1084 c.826G>A c.(826-828)GGG>AGG p.G276R 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_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G276R|PCDHGA11_uc003lkp.1_Missense_Mutation_p.G276R NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 276 Extracellular (Potential).|Cadherin 3. 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) GGGAATCAACGGGGAAGTAAT 0.463 NA 68 357 0 0 0.01441 0 0 ARSI 340075 broad.mit.edu 37 5 149677361 149677361 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr5:149677361C>T uc003lrv.2 - 2 1715 c.1126G>A c.(1126-1128)GCC>ACC p.A376T NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 376 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGCTGATGGCCGGCCACACG 0.637 NA 5 192 0 0 0.001168 0 0 WWC1 23286 broad.mit.edu 37 5 167850949 167850949 + Silent SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr5:167850949C>T uc003lzu.2 + 11 1779 c.1686C>T c.(1684-1686)CTC>CTT p.L562L WWC1_uc003lzv.2_Silent_p.L562L|WWC1_uc011den.1_Silent_p.L562L|WWC1_uc003lzw.2_Silent_p.L361L NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 562 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ATGCCTTCCTCAACTCCTTGG 0.587 NA 32 176 0 0 0.013726 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7986912 7986912 + Missense_Mutation SNP T T C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:7986912T>C uc003mxx.3 + 1 578 c.143T>C c.(142-144)ATC>ACC p.I48T TXNDC5_uc003mxw.2_Intron NR_027712 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 GGCATGCCCATCAAGAAAACA 0.522 NA 3 44 0 0 0.009096 0 0 TRIM15 89870 broad.mit.edu 37 6 30140065 30140065 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:30140065G>A uc010jrx.2 + 7 1816 c.1337G>A c.(1336-1338)GGC>GAC p.G446D NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 446 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding 0 TCTTTCTCCGGCAAAGTCTTC 0.632 NA 4 89 0 0 0.009096 0 0 PPP1R10 5514 broad.mit.edu 37 6 30574350 30574350 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:30574350C>G uc003nqn.1 - 8 1081 c.529G>C c.(529-531)GAG>CAG p.E177Q PPP1R10_uc010jsc.1_5'UTR NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 177 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 GCCTTCACCTCTGTCAAAGGT 0.488 NA 11 171 0 0 0.008291 0 0 USP49 25862 broad.mit.edu 37 6 41774070 41774070 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:41774070C>T uc003ori.2 - 4 874 c.652G>A c.(652-654)GAC>AAC p.D218N NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 218 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) gggcccgcgtcgcggggcgTG 0.577 NA 6 13 0 0 0.00308 0 0 CUL9 23113 broad.mit.edu 37 6 43184061 43184061 + Silent SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:43184061C>T uc003ouk.2 + 31 6177 c.6102C>T c.(6100-6102)GGC>GGT p.G2034G CUL9_uc003oul.2_Silent_p.G2006G|CUL9_uc010jyk.2_Silent_p.G1186G|CUL9_uc003oun.2_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2034 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CCCACTGGGGCGCTGAACAGC 0.597 NA 25 89 0 0 0.004656 0 0 HTR1B 3351 broad.mit.edu 37 6 78172847 78172847 + Missense_Mutation SNP C C A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:78172847C>A uc003pil.1 - 1 274 c.274G>T c.(274-276)GCG>TCG p.A92S NM_000863 NP_000854 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B 92 Helical; Name=2; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity 0 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) TCGGTGACCGCCAGAGAGGCG 0.597 NA 55 243 7.36392e-32 8.83671e-32 0.01441 1 0 SNAP91 9892 broad.mit.edu 37 6 84270599 84270599 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:84270599C>G uc011dze.1 - 26 2827 c.2510G>C c.(2509-2511)GGA>GCA p.G837A SNAP91_uc011dzd.1_Missense_Mutation_p.G335A|SNAP91_uc003pkb.2_Missense_Mutation_p.G746A|SNAP91_uc003pkc.2_Missense_Mutation_p.G807A|SNAP91_uc003pkd.2_Missense_Mutation_p.G530A|SNAP91_uc003pka.2_Missense_Mutation_p.G835A NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 837 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AAATCCTGCTCCAGGTTGTCC 0.313 NA 8 45 0 0 0.008291 0 0 FBXO30 84085 broad.mit.edu 37 6 146126568 146126568 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:146126568G>A uc003qla.2 - 2 1173 c.974C>T c.(973-975)TCA>TTA p.S325L uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 325 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GGAAGGTTTTGAAGTGCCATC 0.428 NA 34 90 0 0 0.012213 0 0 SCRN1 9805 broad.mit.edu 37 7 30008662 30008662 + Missense_Mutation SNP A A G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr7:30008662A>G uc010kvp.2 - 1 226 c.22T>C c.(22-24)TAC>CAC p.Y8H SCRN1_uc011jzy.1_Intron|SCRN1_uc003tak.2_Missense_Mutation_p.Y8H|SCRN1_uc011jzz.1_Missense_Mutation_p.Y8H|SCRN1_uc011kaa.1_Missense_Mutation_p.Y28H|SCRN1_uc011jzx.1_Intron NM_001145515 NP_001138987 Q12765 SCRN1_HUMAN secernin 1 isoform c 8 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity ovary(2) 2 ACAAAACAGTAACTTGGAGGA 0.478 NA 22 38 0 0 0.012319 0 0 STAG3 10734 broad.mit.edu 37 7 99796183 99796183 + Missense_Mutation SNP G G A rs149765159 TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr7:99796183G>A uc003utx.1 + 13 1485 c.1330G>A c.(1330-1332)GCA>ACA p.A444T STAG3_uc010lgs.1_Missense_Mutation_p.A232T|STAG3_uc011kjk.1_Missense_Mutation_p.A386T|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 444 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCTCTGCCGCAGGCGAATT 0.547 NA 30 159 0 0 0.00632 0 0 COG5 10466 broad.mit.edu 37 7 107013191 107013191 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr7:107013191G>A uc003ved.2 - 8 1302 c.777C>T c.(775-777)GTC>GTT p.V259V COG5_uc003vec.2_Silent_p.V259V|COG5_uc003vee.2_Silent_p.V259V NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 259 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 GAGCTGTTCCGACTTGAGTTG 0.343 NA 15 82 0 0 0.003163 0 0 LRGUK 136332 broad.mit.edu 37 7 133943059 133943059 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr7:133943059C>T uc003vrm.1 + 19 2265 c.2249C>T c.(2248-2250)CCG>CTG p.P750L NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 750 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 CGGTTCTGTCCGTGGTCAAAA 0.453 NA 11 153 0 0 0.013537 0 0 ST18 9705 broad.mit.edu 37 8 53071617 53071617 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr8:53071617G>A uc003xqz.2 - 10 1803 c.1647C>T c.(1645-1647)GGC>GGT p.G549G ST18_uc011ldq.1_Silent_p.G196G|ST18_uc011ldr.1_Silent_p.G514G|ST18_uc011lds.1_Silent_p.G454G|ST18_uc003xra.2_Silent_p.G549G|ST18_uc003xrb.2_Silent_p.G549G NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 549 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) GGGTGTGGGCGCCTGCACTAG 0.483 NA 57 198 0 0 0.01441 0 0 MSC 9242 broad.mit.edu 37 8 72756065 72756065 + Missense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr8:72756065G>A uc003xyx.1 - 1 667 c.349C>T c.(349-351)CGT>TGT p.R117C uc011lff.1_Intron|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 117 Basic motif. transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) ATCCGGGCACGCTCACGGGCG 0.687 NA OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 77 0 0 0.009096 0 0 HEY1 23462 broad.mit.edu 37 8 80677881 80677881 + Nonsense_Mutation SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr8:80677881G>A uc003ybm.2 - 5 657 c.457C>T c.(457-459)CGA>TGA p.R153* HEY1_uc010lzq.2_Nonsense_Mutation_p.R34*|HEY1_uc003ybl.2_Nonsense_Mutation_p.R157* NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN hairy/enhancer-of-split related with YRPW motif 153 Orange. angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding lung(3) 3 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) GAAACCAGTCGAACTCGAAGC 0.582 NA OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 137 0 0 0.004482 0 0 SLC39A4 55630 broad.mit.edu 37 8 145640272 145640272 + Silent SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr8:145640272C>T uc003zcq.2 - 5 913 c.813G>A c.(811-813)CTG>CTA p.L271L SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'UTR|SLC39A4_uc003zcp.2_Silent_p.L246L NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 271 Extracellular (Potential). cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CCCTGGCACTCAGGCATACCT 0.672 NA 43 215 0 0 0.01441 0 0 TLR4 7099 broad.mit.edu 37 9 120475310 120475310 + Missense_Mutation SNP G G C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr9:120475310G>C uc004bjz.2 + 3 1195 c.904G>C c.(904-906)GAC>CAC p.D302H TLR4_uc004bka.2_Missense_Mutation_p.D262H|TLR4_uc004bkb.2_Missense_Mutation_p.D102H NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 302 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TGATATTATTGACTTATTTAA 0.348 NA 8 162 0 0 0.00308 0 0 NAIF1 203245 broad.mit.edu 37 9 130829073 130829073 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr9:130829073C>G uc004bta.2 - 1 527 c.308G>C c.(307-309)GGA>GCA p.G103A NAIF1_uc004bsz.2_Intron|SLC25A25_uc004btb.2_5'Flank NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 103 Gly-rich. apoptosis|induction of apoptosis nucleus 0 CCCCCCAGCTCCGTCCTCCTC 0.682 NA 7 60 0 0 0.006214 0 0 VAV2 7410 broad.mit.edu 37 9 136671295 136671295 + Silent SNP G G A TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr9:136671295G>A uc004ces.2 - 9 790 c.744C>T c.(742-744)ATC>ATT p.I248I VAV2_uc004cer.2_Silent_p.I243I NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 248 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GATGCACCTTGATCAGGTCCT 0.592 NA 4 35 0 0 0.009096 0 0 FAM47A 158724 broad.mit.edu 37 X 34150227 34150227 + Missense_Mutation SNP C C T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chrX:34150227C>T uc004ddg.2 - 1 202 c.169G>A c.(169-171)GAC>AAC p.D57N NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 57 ovary(4)|central_nervous_system(1) 5 TAGCGGAAGTCGTCCATGCCC 0.562 NA 4 94 0 0 0.009096 0 0 FAM47C 442444 broad.mit.edu 37 X 37028662 37028662 + Missense_Mutation SNP T T C TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chrX:37028662T>C uc004ddl.1 + 1 2193 c.2179T>C c.(2179-2181)TGC>CGC p.C727R NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 727 ovary(3) 3 ATCTCATCTCTGCCCGGAGCC 0.637 NA 4 71 0 0 0.009096 0 0 FAM47C 442444 broad.mit.edu 37 X 37028695 37028695 + Missense_Mutation SNP C C G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chrX:37028695C>G uc004ddl.1 + 1 2226 c.2212C>G c.(2212-2214)CTC>GTC p.L738V NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 738 ovary(3) 3 AGTGTCCCATCTCCGCCCAGA 0.632 NA 6 80 0 0 0.001984 0 0 DMBT1 1755 broad.mit.edu 37 10 124399784 124399786 + In_Frame_Del DEL TCC TCC - TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr10:124399784_124399786delTCC uc001lgk.1 + 52 6890_6892 c.6784_6786delTCC c.(6784-6786)TCCdel p.S2264del DMBT1_uc001lgl.1_In_Frame_Del_p.S2254del|DMBT1_uc001lgm.1_In_Frame_Del_p.S1636del|DMBT1_uc009xzz.1_In_Frame_Del_p.S2263del|DMBT1_uc010qtx.1_In_Frame_Del_p.S984del|DMBT1_uc009yab.1_In_Frame_Del_p.S967del|DMBT1_uc009yac.1_In_Frame_Del_p.S558del NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2264 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTTTTATACTTCCTCATCTTTCT 0.453 Ovarian(182;93 2026 18125 22222 38972) NA 53 146 --- --- --- --- NA NA NA NA NA CLSTN3 9746 broad.mit.edu 37 12 7286327 7286328 + Frame_Shift_Ins INS - - A rs149627692 by1000genomes TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr12:7286327_7286328insA uc001qsr.2 + 3 624_625 c.346_347insA c.(346-348)GAGfs p.E116fs CLSTN3_uc001qss.2_Frame_Shift_Ins_p.E128fs NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 116 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 TGACTGTGGCGAGGGCCCCGAC 0.629 NA 7 144 --- --- --- --- NA NA NA NA NA C14orf106 55320 broad.mit.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr14:45693722delT uc001wwf.2 - 11 2527 c.2068delA c.(2068-2070)AGTfs p.S690fs NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 690 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 CTGATGGGACTTTTTTTTTGA 0.373 Ovarian(187;620 2054 7273 12043 20532) NA 7 179 --- --- --- --- NA NA NA NA NA RAPGEF6 51735 broad.mit.edu 37 5 130815368 130815369 + Frame_Shift_Ins INS - - T TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr5:130815368_130815369insT uc003kvn.1 - 16 2124_2125 c.1918_1919insA c.(1918-1920)AGTfs p.S640fs RAPGEF6_uc003kvp.1_Frame_Shift_Ins_p.S690fs|RAPGEF6_uc003kvo.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_uc010jdi.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_uc010jdj.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_uc003kvq.2_Frame_Shift_Ins_p.S357fs|RAPGEF6_uc003kvr.2_Frame_Shift_Ins_p.S640fs|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Frame_Shift_Ins_p.S640fs NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 640 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ATGGCGATTACTTTTTTTTTCA 0.366 Melanoma(168;435 1955 13113 13877 23213) NA 10 291 --- --- --- --- NA NA NA NA NA PBX2 5089 broad.mit.edu 37 6 32155055 32155056 + Frame_Shift_Ins INS - - G rs143029272 by1000genomes TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr6:32155055_32155056insG uc003oav.1 - 6 1258_1259 c.987_988insC c.(985-990)CACAGCfs p.H329fs PBX2_uc003oaw.2_Frame_Shift_Ins_p.H329fs NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 329_330 transcription factor binding ovary(1) 1 CTGGTGCGGCTGTGGCCCCCCT 0.554 NA 8 149 --- --- --- --- NA NA NA NA NA PCLO 27445 broad.mit.edu 37 7 82595145 82595146 + Frame_Shift_Ins INS - - G TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr7:82595145_82595146insG uc003uhx.2 - 4 4247_4248 c.3958_3959insC c.(3958-3960)CAGfs p.Q1320fs PCLO_uc003uhv.2_Frame_Shift_Ins_p.Q1320fs NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1259 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGGCTGTGGCTGTTCTTTTATT 0.406 NA 9 243 --- --- --- --- NA NA NA NA NA JHDM1D 80853 broad.mit.edu 37 7 139791810 139791810 + Frame_Shift_Del DEL C C - TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chr7:139791810delC uc003vvm.2 - 19 2529 c.2525delG c.(2524-2526)AGTfs p.S842fs JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 842 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) ATAATTCCTACTTTGTACCCT 0.448 NA 39 70 --- --- --- --- NA NA NA NA NA DNASE1L1 1774 broad.mit.edu 37 X 153631085 153631087 + In_Frame_Del DEL AGC AGC - TCGA-64-1680-01A-02D-0969-08 TCGA-64-1680-10A-01D-1040-01 AGC AGC - - AGC AGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4cde89-2c2e-4ede-b48b-48d9e7423c45 f4b8b2d5-acc7-4fd6-b852-c80fd79be99e g.chrX:153631085_153631087delAGC uc004fks.1 - 8 1061_1063 c.870_872delGCT c.(868-873)CTGCTA>CTA p.290_291LL>L RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_In_Frame_Del_p.290_291LL>L|DNASE1L1_uc004fku.1_In_Frame_Del_p.290_291LL>L|DNASE1L1_uc004fkv.1_In_Frame_Del_p.290_291LL>L|DNASE1L1_uc004fkw.1_In_Frame_Del_p.290_291LL>L NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor 290_291 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGGAGTGATAGCAGCAACAGAA 0.645 NA 18 32 --- --- --- --- NA NA NA NA NA