Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CASZ1 54897 broad.mit.edu 37 1 10720212 10720212 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:10720212G>A uc001aro.2 - 6 1207 c.887C>T c.(886-888)TCG>TTG p.S296L CASZ1_uc001arp.1_Missense_Mutation_p.S296L|CASZ1_uc009vmx.2_Missense_Mutation_p.S320L|CASZ1_uc001arq.1_Missense_Mutation_p.S155L NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ACTGCTGTGCGACGGCAGGGG 0.657 NA 85 68 0 0 0 0 PRDM2 7799 broad.mit.edu 37 1 14075948 14075948 + Silent SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:14075948C>A uc001avi.2 + 6 1333 c.477C>A c.(475-477)GCC>GCA p.A159A PRDM2_uc001avg.2_Silent_p.A159A|PRDM2_uc001avh.2_Silent_p.A159A|PRDM2_uc001avj.2_RNA|PRDM2_uc009vod.1_5'UTR|PRDM2_uc001avk.2_5'UTR|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 159 A->V: Reduced histone methyltransferase activity. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GAGCCAGCGCCCGGAGCAAGC 0.453 NA 8 13 2.18e-05 2.38e-05 1 0 RNF19B 127544 broad.mit.edu 37 1 33402524 33402524 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:33402524G>A uc010oho.1 - 9 2082 c.2082C>T c.(2080-2082)GCC>GCT p.A694A RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.A693A NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B isoform a 694 integral to membrane ligase activity|protein binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCGAGGGGCAGGCTGCAGTAT 0.587 NA 41 117 0 0 0 0 GBP3 2635 broad.mit.edu 37 1 89481070 89481070 + Missense_Mutation SNP G G C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:89481070G>C uc001dmt.2 - 3 423 c.218C>G c.(217-219)TCT>TGT p.S73C GBP3_uc010oss.1_Translation_Start_Site|GBP3_uc001dmu.2_Translation_Start_Site|GBP3_uc001dmv.2_RNA NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 73 integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TTTGGTGTGAGATTTCACTGT 0.483 NA 33 98 0 0 0 0 BTBD8 284697 broad.mit.edu 37 1 92604948 92604948 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:92604948A>G uc001doo.2 + 6 1061 c.794A>G c.(793-795)TAT>TGT p.Y265C BTBD8_uc010otc.1_RNA NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 265 BTB 2. nucleus ovary(1) 1 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) CATTTTATATATGGAGGAACT 0.294 NA 22 97 0 0 0 0 FNDC7 163479 broad.mit.edu 37 1 109270438 109270438 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:109270438T>C uc001dvx.2 + 7 1120 c.1120T>C c.(1120-1122)TGT>CGT p.C374R FNDC7_uc010ova.1_Missense_Mutation_p.C141R NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 375 extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGCTCCCTGTTGTCCTAGTGA 0.547 NA 44 131 0 0 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144923767 144923767 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:144923767T>C uc001elw.3 - 6 982 c.691A>G c.(691-693)ATA>GTA p.I231V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I297V|PDE4DIP_uc001emc.1_Missense_Mutation_p.I231V|PDE4DIP_uc001emd.1_Missense_Mutation_p.I231V|PDE4DIP_uc001emb.1_Missense_Mutation_p.I394V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.I18V NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 231 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCTGAGTTATAGTGGTCTCA 0.448 NA T PDGFRB MPD 32 221 0 0 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154524644 154524644 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:154524644G>A uc001fff.1 - 8 982 c.891C>T c.(889-891)AGC>AGT p.S297S NM_017582 NP_060052 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q 297 ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TGTGCAAAGCGCTGTCCTGGT 0.493 NA 18 98 0 0 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186946794 186946794 + Missense_Mutation SNP T T A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:186946794T>A uc001gsc.2 + 16 2039 c.1834T>A c.(1834-1836)TTT>ATT p.F612I PLA2G4A_uc010pos.1_Missense_Mutation_p.F552I NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 612 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TCCTTATGTGTTTGATCGGGA 0.418 NA 23 77 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197091601 197091601 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:197091601G>A uc001gtu.2 - 14 3772 c.3515C>T c.(3514-3516)ACG>ATG p.T1172M ASPM_uc001gtv.2_Missense_Mutation_p.T1172M|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1172 CH 2. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ACCAGTTTGCGTACATTCCAC 0.413 NA 9 38 0 0 0 0 GREM2 64388 broad.mit.edu 37 1 240656691 240656691 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:240656691C>T uc001hys.2 - 2 365 c.85G>A c.(85-87)GCC>ACC p.A29T NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 29 BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) GAGGGGATGGCGCCCGCCGGC 0.622 NA 10 17 0 0 0 0 HNRNPU 3192 broad.mit.edu 37 1 245021401 245021401 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:245021401A>G uc001iaz.1 - 7 1624 c.1406T>C c.(1405-1407)ATA>ACA p.I469T HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.I193T|HNRNPU_uc001iba.1_Missense_Mutation_p.I450T|HNRNPU_uc001ibb.1_Missense_Mutation_p.I157T NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 469 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CTCTTCAGGTATTGGAAAATA 0.438 NA 13 49 0 0 0 0 PTEN 5728 broad.mit.edu 37 10 89692794 89692794 + Missense_Mutation SNP A A G rs121909238 TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr10:89692794A>G uc001kfb.2 + 6 1309 c.278A>G c.(277-279)CAT>CGT p.H93R NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 93 Phosphatase tensin-type. H -> R (in MCEPHAS).|H -> Y (in CD). H->A: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3. Modest reduction in phosphatase activity towards PtdIns(3,4)P2. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.H93Y(3)|p.H93Q(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.H93D(1)|p.H93R(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTTGAAGACCATAACCCACCA 0.338 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 21 63 0 0 0 0 TLL2 7093 broad.mit.edu 37 10 98155039 98155039 + Missense_Mutation SNP G G A rs140011074 TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr10:98155039G>A uc001kml.1 - 13 1857 c.1631C>T c.(1630-1632)CCG>CTG p.P544L TLL2_uc009xvf.1_Missense_Mutation_p.P522L NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 544 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CACATCCTCCGGCTTCTCATA 0.507 NA 4 87 0 0 0 0 TH 7054 broad.mit.edu 37 11 2190937 2190937 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:2190937G>A uc001lvq.2 - 3 367 c.348C>T c.(346-348)CTC>CTT p.L116L TH_uc001lvp.2_Silent_p.L112L|TH_uc001lvr.2_Silent_p.L85L|TH_uc010qxj.1_Silent_p.L89L|TH_uc001lvs.2_Silent_p.L85L|TH_uc001lvt.2_Silent_p.L89L|TH_uc009ydh.1_5'Flank NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 116 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) TCGGGGAGAAGAGCAGGTTTA 0.672 NA 30 71 0 0 0 0 OR52B2 255725 broad.mit.edu 37 11 6191145 6191145 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:6191145G>A uc010qzy.1 - 1 412 c.412C>T c.(412-414)CTA>TTA p.L138L NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATGTTAGCACTGTTGTA 0.512 NA 9 49 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17428479 17428479 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:17428479C>T uc001mnc.2 - 25 3244 c.3118G>A c.(3118-3120)GCC>ACC p.A1040T NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1040 ABC transmembrane type-1 2.|Extracellular (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGTCAGGGCGCTGTCGGTC 0.652 NA 6 87 0 0 0 0 SLC5A12 159963 broad.mit.edu 37 11 26734241 26734241 + Nonsense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:26734241G>A uc001mra.2 - 2 665 c.352C>T c.(352-354)CGA>TGA p.R118* SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Nonsense_Mutation_p.R118* NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 118 Cytoplasmic (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 TTGTTGAATCGTAGTTGTAAG 0.418 NA 60 189 0 0 0 0 TTC17 55761 broad.mit.edu 37 11 43418289 43418289 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:43418289G>T uc001mxi.2 + 6 708 c.694G>T c.(694-696)GCT>TCT p.A232S TTC17_uc001mxh.2_Missense_Mutation_p.A232S|TTC17_uc010rfj.1_Missense_Mutation_p.A175S|TTC17_uc001mxj.2_Missense_Mutation_p.A2S NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 232 binding ovary(5) 5 GTATAACATGGCTTCATTTTA 0.388 NA 15 66 0.000308642 0.000330281 1 0 FAT3 120114 broad.mit.edu 37 11 92613978 92613978 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:92613978G>A uc001pdj.3 + 22 12226 c.12209G>A c.(12208-12210)CGG>CAG p.R4070Q FAT3_uc001pdi.3_Missense_Mutation_p.R510Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4070 EGF-like 3.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AACCCCTGCCGGAATGGAGGA 0.478 NA TCGA Ovarian(4;0.039) 6 179 0 0 0 0 OR8D2 283160 broad.mit.edu 37 11 124189328 124189328 + Missense_Mutation SNP T T A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:124189328T>A uc010sah.1 - 1 766 c.766A>T c.(766-768)ACA>TCA p.T256S NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TACATGAATGTTATAGACCCA 0.438 NA 37 81 0 0 0 0 AVPR1A 552 broad.mit.edu 37 12 63544069 63544069 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr12:63544069G>A uc001sro.1 - 1 2522 c.548C>T c.(547-549)ACG>ATG p.T183M NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 183 Helical; Name=4; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GTACTGCGGCGTGCTCAGCAC 0.642 NA 29 50 0 0 0 0 KDM2B 84678 broad.mit.edu 37 12 122018774 122018774 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr12:122018774G>A uc001uat.2 - 1 147 c.43C>T c.(43-45)CCA>TCA p.P15S KDM2B_uc001uas.2_5'Flank|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.P15S NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 15 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CTTTTTCGTGGGGGGTGATCC 0.483 NA 32 135 0 0 0 0 TPP2 7174 broad.mit.edu 37 13 103295686 103295686 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr13:103295686T>C uc001vpi.3 + 17 2238 c.2135T>C c.(2134-2136)CTT>CCT p.L712P NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 712 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTTGTTCTCTTCCAGAGAAA 0.373 NA 12 32 0 0 0 0 LRFN5 145581 broad.mit.edu 37 14 42360816 42360816 + Silent SNP A A T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr14:42360816A>T uc001wvm.2 + 4 2947 c.1749A>T c.(1747-1749)GTA>GTT p.V583V LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 583 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GCTGTAGTGTAACGCTGCCCC 0.453 NA HNSCC(30;0.082) 22 48 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71500712 71500712 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr14:71500712G>A uc001xmo.2 + 18 4179 c.3733G>A c.(3733-3735)GAA>AAA p.E1245K PCNX_uc010are.1_Missense_Mutation_p.E1134K|PCNX_uc010arf.1_Missense_Mutation_p.E105K NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1245 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CCCTCTATCTGAAGTAAAAGA 0.308 NA 35 87 0 0 0 0 C15orf42 90381 broad.mit.edu 37 15 90168261 90168261 + Nonsense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr15:90168261C>T uc002boe.2 + 20 4720 c.4720C>T c.(4720-4722)CGA>TGA p.R1574* C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1574 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TCCCAAACTTCGAATTAAGAA 0.537 NA 32 98 0 0 0 0 RBBP6 5930 broad.mit.edu 37 16 24551988 24551988 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr16:24551988A>G uc002dmh.2 + 1 1081 c.41A>G c.(40-42)TAT>TGT p.Y14C RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Missense_Mutation_p.Y14C|RBBP6_uc002dmi.2_Missense_Mutation_p.Y14C|RBBP6_uc010bxr.2_Missense_Mutation_p.Y14C NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 14 DWNN. protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) AAACTCAACTATGATACCGTC 0.473 NA 20 72 0 0 0 0 CCDC40 55036 broad.mit.edu 37 17 78063685 78063685 + Splice_Site SNP T T G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr17:78063685T>G uc010dht.2 + 17 2859 c.2832_splice c.e17+2 p.K944_splice CCDC40_uc002jxm.3_Splice_Site_p.K727_splice|CCDC40_uc002jxn.3_Splice_Site_p.K340_splice NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGATGAAGGTGAGGGGAGGA 0.627 NA 10 32 0 0 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3648623 3648623 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:3648623C>A uc002lyj.1 - 9 1268 c.1211G>T c.(1210-1212)AGG>ATG p.R404M PIP5K1C_uc010xhq.1_Missense_Mutation_p.R404M|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R404M NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 404 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GGGCACCCACCTGTAGGACTG 0.706 NA 15 57 5.39e-06 5.97e-06 1 0 CCDC94 55702 broad.mit.edu 37 19 4267629 4267629 + Silent SNP G G A rs144896215 byFrequency TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:4267629G>A uc002lzv.3 + 7 750 c.717G>A c.(715-717)AAG>AAA p.K239K NM_018074 NP_060544 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 239 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) AGGCCCCAAAGCCCAAGAGGA 0.687 NA OREG0025164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 37 0 0 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455922 5455922 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:5455922C>T uc002mca.3 + 1 497 c.420C>T c.(418-420)AAC>AAT p.N140N NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 140 Extracellular (Potential).|PA. integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) AGCCAGCCAACGCGTGCCATC 0.672 NA 22 67 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 8966769 8966769 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:8966769A>G uc002mkp.2 - 81 43388 c.43184T>C c.(43183-43185)TTC>TCC p.F14395S MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.F1195S|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGTGGCGAGAAGTTACACAG 0.527 NA 2 7 0 0 0 0 PRR12 57479 broad.mit.edu 37 19 50099696 50099696 + Missense_Mutation SNP A A T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:50099696A>T uc002poo.3 + 4 2104 c.2104A>T c.(2104-2106)AGT>TGT p.S702C NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCACCTGCAGAGTGTCATCCG 0.657 NA 14 20 0 0 0 0 ZNF543 125919 broad.mit.edu 37 19 57839395 57839395 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:57839395G>A uc002qoi.1 + 4 910 c.565G>A c.(565-567)GAT>AAT p.D189N NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ACCAGTTACAGATGCCTTGAT 0.403 NA 29 81 0 0 0 0 BRE 9577 broad.mit.edu 37 2 28210901 28210901 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:28210901G>A uc002rlr.2 + 5 565 c.247G>A c.(247-249)GAT>AAT p.D83N BRE_uc002rlp.1_Missense_Mutation_p.D83N|BRE_uc002rlq.2_Missense_Mutation_p.D83N|BRE_uc002rls.2_Missense_Mutation_p.D83N|BRE_uc002rlt.2_Missense_Mutation_p.D83N|BRE_uc002rlu.2_Missense_Mutation_p.D83N|BRE_uc002rlv.2_5'UTR NM_199194 NP_954664 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A 83 UEV-like 1. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding lung(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) ACTGCCTCCCGATTTTATCTT 0.398 NA 94 326 0 0 0 0 RAB1A 5861 broad.mit.edu 37 2 65318142 65318142 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:65318142A>G uc002sdm.2 - 4 649 c.263T>C c.(262-264)ATA>ACA p.I88T RAB1A_uc002sdn.2_Intron|RAB1A_uc010yqe.1_Intron|RAB1A_uc002sdo.2_Intron NM_004161 NP_004152 P62820 RAB1A_HUMAN RAB1A, member RAS oncogene family isoform 1 88 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum|Golgi apparatus GTP binding|GTPase activity 0 ATACACAACTATGATGCCATG 0.398 NA 4 26 0 0 0 0 ZNF638 27332 broad.mit.edu 37 2 71633384 71633384 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:71633384A>G uc002shx.2 + 19 3446 c.3127A>G c.(3127-3129)AGA>GGA p.R1043G ZNF638_uc010yqw.1_Missense_Mutation_p.R622G|ZNF638_uc002shy.2_Missense_Mutation_p.R1043G|ZNF638_uc002shz.2_Missense_Mutation_p.R1043G|ZNF638_uc002sia.2_Missense_Mutation_p.R1043G|ZNF638_uc002sib.1_Missense_Mutation_p.R1043G|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.R140G NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1043 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 CATAAGTAATAGAAACAAGGT 0.343 NA 14 40 0 0 0 0 REG3A 5068 broad.mit.edu 37 2 79385538 79385538 + Missense_Mutation SNP C C G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:79385538C>G uc002sod.1 - 3 502 c.247G>C c.(247-249)GCT>CCT p.A83P REG3A_uc002soe.1_Missense_Mutation_p.A83P|REG3A_uc002sof.1_Missense_Mutation_p.A83P NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 83 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GATCCCTCAGCCCCACTGAGC 0.572 NA 12 67 0 0 0 0 FAHD2A 51011 broad.mit.edu 37 2 96072879 96072879 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:96072879G>A uc002sur.2 + 3 615 c.436G>A c.(436-438)GAG>AAG p.E146K FAHD2A_uc002sus.2_Missense_Mutation_p.E146K NM_016044 NP_057128 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 146 hydrolase activity|metal ion binding ovary(1) 1 GCCCTATGATGAGGTGGTCCT 0.562 NA 18 88 0 0 0 0 CSRNP3 80034 broad.mit.edu 37 2 166533063 166533063 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:166533063G>A uc002udf.2 + 6 1026 c.650G>A c.(649-651)CGA>CAA p.R217Q CSRNP3_uc002udg.2_Missense_Mutation_p.R217Q NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 217 Cys-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TGTGACTGCCGAGTGTTCTGT 0.542 NA 21 50 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227912248 227912248 + Missense_Mutation SNP C C T rs77277077 by1000genomes TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:227912248C>T uc010zlt.1 - 35 3886 c.3232G>A c.(3232-3234)GCC>ACC p.A1078T NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1078 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AAGTGACTGGCAGGGTCACCT 0.398 NA 12 21 0 0 0 0 ANGPT4 51378 broad.mit.edu 37 20 896725 896725 + Missense_Mutation SNP A A C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:896725A>C uc002wei.2 - 1 236 c.133T>G c.(133-135)TAC>GAC p.Y45D ANGPT4_uc010zpn.1_Missense_Mutation_p.Y39D NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 45 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 AAGAAGGTGTAGCTACAGTGG 0.607 NA 19 65 0 0 0 0 C20orf186 149954 broad.mit.edu 37 20 31671216 31671216 + Silent SNP C C A rs145261889 byFrequency TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:31671216C>A uc010zue.1 + 3 228 c.213C>A c.(211-213)CCC>CCA p.P71P NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 71 cytoplasm|extracellular region lipid binding 0 TCCGAGGACCCCCCCCAGTAT 0.488 NA 39 113 7.05e-23 8.63e-23 1 0 KIAA1755 85449 broad.mit.edu 37 20 36841569 36841569 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:36841569G>A uc002xhy.1 - 14 3750 c.3478C>T c.(3478-3480)CGG>TGG p.R1160W KIAA1755_uc002xhv.1_Missense_Mutation_p.R224W|KIAA1755_uc002xhw.1_Missense_Mutation_p.R215W|KIAA1755_uc002xhx.1_Missense_Mutation_p.R438W NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 1160 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GGCTGCTGCCGGAAGAAGGTG 0.647 NA 17 74 0 0 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37464808 37464808 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:37464808C>A uc002xje.2 + 2 429 c.240C>A c.(238-240)GAC>GAA p.D80E PPP1R16B_uc010ggc.2_Missense_Mutation_p.D80E NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 80 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TGAGGAACGACGCCGAGGAAG 0.652 NA 12 41 6.72e-11 7.83e-11 1 0 YWHAB 7529 broad.mit.edu 37 20 43530339 43530339 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:43530339C>T uc002xmt.2 + 3 447 c.165C>T c.(163-165)GGC>GGT p.G55G YWHAB_uc002xmu.2_Silent_p.G55G NM_003404 NP_003395 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 55 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding kidney(2)|ovary(1)|breast(1) 4 Myeloproliferative disorder(115;0.0122) ATGTGGTAGGCGCCCGCCGCT 0.512 NA 23 41 0 0 0 0 DIP2A 23181 broad.mit.edu 37 21 47977603 47977603 + Missense_Mutation SNP C C G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr21:47977603C>G uc002zjo.2 + 31 3918 c.3735C>G c.(3733-3735)TTC>TTG p.F1245L DIP2A_uc011afz.1_Missense_Mutation_p.F1241L|DIP2A_uc002zjr.2_Missense_Mutation_p.F212L NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 1245 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCGTCACCTTCTGCTCCTACT 0.637 NA 8 18 0 0 0 0 SFI1 9814 broad.mit.edu 37 22 32009447 32009447 + Silent SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr22:32009447G>T uc003ale.2 + 26 3066 c.2673G>T c.(2671-2673)ACG>ACT p.T891T SFI1_uc003alf.2_Silent_p.T860T|SFI1_uc003alg.2_Silent_p.T809T|SFI1_uc011alp.1_Silent_p.T797T|SFI1_uc011alq.1_Silent_p.T836T|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 891 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 AGGGTGCCACGCGGCTCCTGC 0.682 NA 7 23 2.01e-06 2.24e-06 1 0 DHX30 22907 broad.mit.edu 37 3 47889378 47889378 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:47889378A>G uc003cru.2 + 14 2644 c.2218A>G c.(2218-2220)ATC>GTC p.I740V DHX30_uc003crt.2_Missense_Mutation_p.I701V|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 740 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TTCCATCACAATCAATGACAT 0.547 NA 23 39 0 0 0 0 ROBO1 6091 broad.mit.edu 37 3 78987994 78987994 + Missense_Mutation SNP T T G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:78987994T>G uc003dqe.2 - 4 464 c.256A>C c.(256-258)ACT>CCT p.T86P ROBO1_uc003dqb.2_Missense_Mutation_p.T47P|ROBO1_uc003dqc.2_Missense_Mutation_p.T47P|ROBO1_uc003dqd.2_Missense_Mutation_p.T47P NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 86 Extracellular (Potential).|Ig-like C2-type 1. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CAGTTCAAAGTTGCAGGTTCT 0.507 NA 21 55 0 0 0 0 ZPLD1 131368 broad.mit.edu 37 3 102171893 102171893 + Nonsense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:102171893C>A uc003dvs.1 + 10 1119 c.237C>A c.(235-237)TGC>TGA p.C79* ZPLD1_uc003dvt.1_Nonsense_Mutation_p.C95*|ZPLD1_uc011bhg.1_Nonsense_Mutation_p.C79* NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 79 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 ACTCCCACTGCAGAGGGTTCA 0.453 NA 74 36 4.09e-32 5.03e-32 1 0 WDR5B 54554 broad.mit.edu 37 3 122133906 122133906 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:122133906C>T uc003efa.1 - 1 977 c.470G>A c.(469-471)GGA>GAA p.G157E NM_019069 NP_061942 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 157 WD 3. ovary(3) 3 GBM - Glioblastoma multiforme(114;0.0704) GAGACACTTTCCTGTTTTCAC 0.403 NA 22 81 0 0 0 0 AHSG 197 broad.mit.edu 37 3 186338468 186338468 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:186338468G>A uc003fqk.3 + 7 934 c.853G>A c.(853-855)GCA>ACA p.A285T AHSG_uc003fql.3_Missense_Mutation_p.A286T|AHSG_uc003fqm.3_Missense_Mutation_p.A284T|AHSG_uc010hyp.2_Missense_Mutation_p.A248T NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 285 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) TCCACTTGGCGCACCTGGACT 0.642 NA 126 83 0 0 0 0 WHSC1 7468 broad.mit.edu 37 4 1902895 1902895 + Missense_Mutation SNP A A T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:1902895A>T uc003gdz.3 + 2 690 c.514A>T c.(514-516)AGC>TGC p.S172C WHSC1_uc003geb.3_Missense_Mutation_p.S172C|WHSC1_uc003gec.3_Missense_Mutation_p.S172C|WHSC1_uc003ged.3_Missense_Mutation_p.S172C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.S172C|WHSC1_uc003gdy.1_Missense_Mutation_p.S172C|WHSC1_uc010icd.1_Missense_Mutation_p.S172C|WHSC1_uc003gea.1_Missense_Mutation_p.S172C|WHSC1_uc010ice.1_Missense_Mutation_p.S172C|WHSC1_uc003geg.1_Missense_Mutation_p.S172C|WHSC1_uc003geh.1_Missense_Mutation_p.S172C NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 172 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CAGGAAGAGGAGCATAAAATA 0.438 NA T IGH@ MM 12 22 0 0 0 0 SCARB2 950 broad.mit.edu 37 4 77091132 77091132 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:77091132G>T uc003hju.1 - 8 1340 c.1001C>A c.(1000-1002)CCC>CAC p.P334H SCARB2_uc011cbu.1_Missense_Mutation_p.P191H NM_005506 NP_005497 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 334 Lumenal (Potential). cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity 0 Lung(101;0.196) CATAATGATGGGTGCACCTGC 0.413 NA 5 107 4.1e-09 4.66e-09 1 0 SEC31A 22872 broad.mit.edu 37 4 83748771 83748771 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:83748771G>A uc003hnf.2 - 24 3206 c.3042C>T c.(3040-3042)TTC>TTT p.F1014F SEC31A_uc003hnd.2_Silent_p.F183F|SEC31A_uc003hne.2_Silent_p.F763F|SEC31A_uc011ccl.1_Silent_p.F960F|SEC31A_uc003hnl.2_Silent_p.F861F|SEC31A_uc003hng.2_Silent_p.F999F|SEC31A_uc003hnh.2_Silent_p.F1014F|SEC31A_uc003hni.2_Silent_p.F900F|SEC31A_uc003hnj.2_Silent_p.F975F|SEC31A_uc011ccm.1_Silent_p.F994F|SEC31A_uc011ccn.1_Silent_p.F999F|SEC31A_uc003hnk.2_Silent_p.F975F|SEC31A_uc003hnm.2_Silent_p.F1014F NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 1014 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) CAGGAGGCATGAAGTTTTCAG 0.433 NA 7 181 0 0 0 0 ADH6 130 broad.mit.edu 37 4 100131636 100131636 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:100131636G>A uc003hup.3 - 4 380 c.286C>T c.(286-288)CTG>TTG p.L96L uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.L96L|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Silent_p.L96L NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 96 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) CACTGTGGCAGAAAGAGTGTG 0.303 NA 28 80 0 0 0 0 LRBA 987 broad.mit.edu 37 4 151773953 151773953 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:151773953C>A uc010ipj.2 - 23 3383 c.2909G>T c.(2908-2910)GGA>GTA p.G970V LRBA_uc003ilu.3_Missense_Mutation_p.G970V NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 970 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TTGCTGGGATCCTACTGAAAC 0.403 NA 12 41 7.04e-09 7.94e-09 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160266481 160266481 + Missense_Mutation SNP T T G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:160266481T>G uc003iqg.3 + 18 3329 c.3019T>G c.(3019-3021)TTG>GTG p.L1007V NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1007 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) AACCAACACATGTGAGTTTTT 0.463 NA 11 56 0 0 0 0 GLRA3 8001 broad.mit.edu 37 4 175598318 175598318 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:175598318C>T uc003ity.1 - 7 1341 c.838G>A c.(838-840)GAT>AAT p.D280N GLRA3_uc003itz.1_Missense_Mutation_p.D280N NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 280 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GGTGCTGCATCCATGTTGATC 0.473 NA 20 38 0 0 0 0 NIPBL 25836 broad.mit.edu 37 5 37008756 37008756 + Nonsense_Mutation SNP T T G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr5:37008756T>G uc003jkl.3 + 20 4851 c.4352T>G c.(4351-4353)TTA>TGA p.L1451* NIPBL_uc003jkk.3_Nonsense_Mutation_p.L1451* NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1451 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CATAGGCAGTTAATTTTGGAA 0.279 NA 24 116 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41008749 41008749 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr5:41008749C>T uc003jmj.3 - 33 4057 c.3567G>A c.(3565-3567)GTG>GTA p.V1189V HEATR7B2_uc003jmi.3_Silent_p.V744V NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1189 HEAT 13. binding ovary(6)|central_nervous_system(2) 8 CCTGCTGCATCACATGCCGCC 0.567 NA 34 51 0 0 0 0 YTHDC2 64848 broad.mit.edu 37 5 112868639 112868639 + Nonsense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr5:112868639C>T uc003kqn.2 + 5 922 c.739C>T c.(739-741)CAA>TAA p.Q247* YTHDC2_uc010jce.1_Nonsense_Mutation_p.Q247*|YTHDC2_uc010jcf.1_5'UTR NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 247 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ATTTTGTACTCAACCAAGACG 0.378 NA 4 74 0 0 0 0 CEP120 153241 broad.mit.edu 37 5 122729184 122729184 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr5:122729184G>T uc003ktk.2 - 7 702 c.620C>A c.(619-621)CCA>CAA p.P207Q CEP120_uc011cwq.1_Missense_Mutation_p.P16Q|CEP120_uc010jcz.1_Missense_Mutation_p.P181Q NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 207 centrosome ovary(1) 1 CATGGTACATGGAATTAACTA 0.303 NA 20 31 3.67e-16 4.4e-16 1 0 DUSP22 56940 broad.mit.edu 37 6 348127 348127 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:348127G>A uc003msx.2 + 6 727 c.288G>A c.(286-288)GTG>GTA p.V96V DUSP22_uc011dhn.1_Silent_p.V96V|DUSP22_uc003msy.1_Silent_p.V53V NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 96 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CCAGGAGCGTGACACTGGTGA 0.612 NA 50 280 0 0 0 0 PPIL1 51645 broad.mit.edu 37 6 36824426 36824426 + Silent SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:36824426T>C uc003omu.2 - 3 468 c.216A>G c.(214-216)CGA>CGG p.R72R NM_016059 NP_057143 Q9Y3C6 PPIL1_HUMAN peptidylprolyl isomerase-like 1 72 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 ATGCACCACCTCGACCTGCCC 0.458 NA 12 45 0 0 0 0 LRFN2 57497 broad.mit.edu 37 6 40360344 40360344 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:40360344C>T uc003oph.1 - 3 2173 c.1708G>A c.(1708-1710)GCG>ACG p.A570T NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 570 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CTCACGGCCGCTGCCATCTTG 0.677 NA 7 41 0 0 0 0 CUL9 23113 broad.mit.edu 37 6 43189000 43189000 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:43189000C>T uc003ouk.2 + 34 6768 c.6693C>T c.(6691-6693)CTC>CTT p.L2231L CUL9_uc003oul.2_Silent_p.L2203L|CUL9_uc010jyk.2_Silent_p.L1383L|CUL9_uc003oun.2_Silent_p.L26L NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2231 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 TGGCCAAGCTCATCTCCAAGC 0.612 NA 12 39 0 0 0 0 BEND6 221336 broad.mit.edu 37 6 56857219 56857219 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:56857219C>T uc010kab.2 + 3 750 c.164C>T c.(163-165)TCC>TTC p.S55F BEND6_uc003pdg.2_RNA NM_152731 NP_689944 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 55 0 GGTGAAAGCTCCAGTGAGGAT 0.403 NA 55 209 0 0 0 0 FNDC1 84624 broad.mit.edu 37 6 159653481 159653481 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:159653481A>G uc010kjv.2 + 11 2137 c.1937A>G c.(1936-1938)GAC>GGC p.D646G FNDC1_uc010kjw.1_Missense_Mutation_p.D531G NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 646 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GACTTGGTGGACTCAGACGAA 0.697 NA 9 50 0 0 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067095 18067095 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr7:18067095C>A uc003stz.2 - 1 392 c.311G>T c.(310-312)CGG>CTG p.R104L NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 104 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) GATTGGGGACCGGCTCTTATC 0.468 NA 36 110 6.91e-12 8.18e-12 1 0 LAMB4 22798 broad.mit.edu 37 7 107732207 107732207 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr7:107732207T>C uc010ljo.1 - 14 1649 c.1565A>G c.(1564-1566)AAT>AGT p.N522S LAMB4_uc003vey.2_Missense_Mutation_p.N522S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 522 Laminin EGF-like 5; truncated. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 ACACTGCCCATTCTTGGGTGA 0.502 NA 18 69 0 0 0 0 CPA5 93979 broad.mit.edu 37 7 130002807 130002807 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr7:130002807C>T uc010lmd.1 + 10 1339 c.719C>T c.(718-720)CCT>CTT p.P240L CPA5_uc003vps.2_Missense_Mutation_p.P240L|CPA5_uc003vpt.2_Missense_Mutation_p.P240L|CPA5_uc010lme.1_Missense_Mutation_p.P240L|CPA5_uc003vpu.1_Missense_Mutation_p.P240L NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 240 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) GTCACAAACCCTGATGGGTTT 0.502 NA 3 41 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52336282 52336282 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:52336282G>T uc003xqu.3 - 14 1749 c.1648C>A c.(1648-1650)CAG>AAG p.Q550K NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 550 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCAGTAATCTGCACACCTTCC 0.403 NA 12 43 7.04e-09 7.94e-09 1 0 ST18 9705 broad.mit.edu 37 8 53044649 53044649 + Missense_Mutation SNP C C G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:53044649C>G uc003xqz.2 - 17 2691 c.2535G>C c.(2533-2535)AAG>AAC p.K845N ST18_uc011ldq.1_Missense_Mutation_p.K492N|ST18_uc011ldr.1_Missense_Mutation_p.K810N|ST18_uc011lds.1_Missense_Mutation_p.K750N|ST18_uc003xra.2_Missense_Mutation_p.K845N NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 845 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) CCTTCTGTCTCTTGGCAGCCA 0.522 NA 14 60 0 0 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886149 88886149 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:88886149C>A uc003ydz.2 - 1 148 c.51G>T c.(49-51)AAG>AAT p.K17N NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 17 ovary(1) 1 CTCTGACTGTCTTTTTCTGCT 0.537 NA 18 52 3.6e-14 4.28e-14 1 0 UBR5 51366 broad.mit.edu 37 8 103354705 103354705 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:103354705T>C uc003ykr.1 - 9 1127 c.1094A>G c.(1093-1095)GAT>GGT p.D365G UBR5_uc003yks.1_Missense_Mutation_p.D365G NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 365 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AAATACCTTATCAGGCCACCA 0.408 NA 81 88 0 0 0 0 GPR172A 79581 broad.mit.edu 37 8 145583549 145583549 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:145583549C>T uc003zcc.1 + 3 554 c.397C>T c.(397-399)CTG>TTG p.L133L FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.L133L|GPR172A_uc003zce.1_Silent_p.L133L|GPR172A_uc010mfy.1_Silent_p.L133L|GPR172A_uc003zcf.1_Silent_p.L133L|GPR172A_uc011llc.1_Silent_p.L45L NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 133 integral to plasma membrane receptor activity|riboflavin 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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TGTCACTTTCCTGCCCTTCTT 0.602 NA 65 281 0 0 0 0 GLIS3 169792 broad.mit.edu 37 9 4117907 4117907 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr9:4117907A>G uc003zhw.1 - 3 1300 c.1106T>C c.(1105-1107)GTC>GCC p.V369A GLIS3_uc003zhx.1_Missense_Mutation_p.V524A|GLIS3_uc003zic.1_Missense_Mutation_p.V524A|GLIS3_uc003zie.1_Missense_Mutation_p.V524A|GLIS3_uc010mhh.1_Missense_Mutation_p.V399A|GLIS3_uc003zid.1_Missense_Mutation_p.V302A|GLIS3_uc010mhi.1_Missense_Mutation_p.V331A|GLIS3_uc003zif.1_Missense_Mutation_p.V302A|GLIS3_uc003zig.1_Missense_Mutation_p.V368A|GLIS3_uc003zih.1_Missense_Mutation_p.V302A|GLIS3_uc003zhy.1_Missense_Mutation_p.V302A|GLIS3_uc003zhz.1_Missense_Mutation_p.V302A|GLIS3_uc003zib.1_Missense_Mutation_p.V368A|GLIS3_uc010mhg.1_Missense_Mutation_p.V302A NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 369 C2H2-type 1. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GTCGATGTGGACCTTCTCGAT 0.612 NA 11 73 0 0 0 0 PLIN2 123 broad.mit.edu 37 9 19126190 19126190 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr9:19126190C>A uc003zno.2 - 3 327 c.148G>T c.(148-150)GCA>TCA p.A50S PLIN2_uc011lna.1_Missense_Mutation_p.A22S|PLIN2_uc011lnb.1_Missense_Mutation_p.A50S NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 50 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle ovary(2) 2 CCGTTCTCTGCCATCTCACAC 0.517 NA 39 82 1.59e-14 1.9e-14 1 0 SOX3 6658 broad.mit.edu 37 X 139586674 139586674 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chrX:139586674C>T uc004fbd.1 - 1 552 c.552G>A c.(550-552)GAG>GAA p.E184E NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 184 HMG box. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) ATGGTCGCTTCTCGGCGTCGG 0.612 NA 4 50 0 0 0 0 CASZ1 54897 broad.mit.edu 37 1 10715709 10715710 + Frame_Shift_Ins INS - - A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:10715709_10715710insA uc001aro.2 - 9 1981_1982 c.1661_1662insT c.(1660-1662)ATGfs p.M554fs CASZ1_uc001arp.1_Frame_Shift_Ins_p.M554fs|CASZ1_uc009vmx.2_Frame_Shift_Ins_p.M578fs NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 554 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GAGGCACCTGCATGCAGTGATA 0.678 NA 18 11 --- --- --- --- NA NA NA NA POTEG 404785 broad.mit.edu 37 14 19553545 19553545 + Frame_Shift_Del DEL G G - TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr14:19553545delG uc001vuz.1 + 1 181 c.129delG c.(127-129)GTGfs p.V43fs POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 43 ovary(1) 1 AGAGCAACGTGGGCACTTCTG 0.602 NA 48 619 --- --- --- --- NA NA NA NA RGS9 8787 broad.mit.edu 37 17 63223491 63223491 + Frame_Shift_Del DEL A A - TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr17:63223491delA uc002jfe.2 + 19 2101 c.1991delA c.(1990-1992)GAAfs p.E664fs RGS9_uc002jfd.2_Frame_Shift_Del_p.E661fs|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Frame_Shift_Del_p.E435fs NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 664 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CGGGCCACAGAAAAGGAGGTC 0.582 NA 13 36 --- --- --- --- NA NA NA NA TRIM59 286827 broad.mit.edu 37 3 160156068 160156069 + Frame_Shift_Del DEL TG TG - TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:160156068_160156069delTG uc003fdm.2 - 3 1098_1099 c.903_904delCA c.(901-906)CTCATTfs p.L301fs IFT80_uc003fda.2_RNA NM_173084 NP_775107 Q8IWR1 TRI59_HUMAN tripartite motif-containing 59 301_302 integral to membrane|intracellular zinc ion binding 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATTTTGGGAATGAGAACGTTCT 0.342 NA 27 110 --- --- --- --- NA NA NA NA PLEC 5339 broad.mit.edu 37 8 145008578 145008579 + Frame_Shift_Ins INS - - G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:145008578_145008579insG uc003zaf.1 - 11 1657_1658 c.1487_1488insC c.(1486-1488)CCTfs p.P496fs PLEC_uc003zab.1_Frame_Shift_Ins_p.P359fs|PLEC_uc003zac.1_Frame_Shift_Ins_p.P363fs|PLEC_uc003zad.2_Frame_Shift_Ins_p.P359fs|PLEC_uc003zae.1_Frame_Shift_Ins_p.P327fs|PLEC_uc003zag.1_Frame_Shift_Ins_p.P337fs|PLEC_uc003zah.2_Frame_Shift_Ins_p.P345fs|PLEC_uc003zaj.2_Frame_Shift_Ins_p.P386fs NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 496 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GGTGGTAGCCAGGGGGCACCTT 0.673 NA 35 73 --- --- --- --- NA NA NA NA