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 ACTRT2 140625 broad.mit.edu 37 1 2938694 2938694 + Silent SNP C C T rs17845890 TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:2938694C>T uc001ajz.2 + 1 649 c.444C>T c.(442-444)GCC>GCT p.A148A NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 148 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CTCTCTACGCCTCTGCCTGTG 0.622 NA 20 87 0 0 0 0 AJAP1 55966 broad.mit.edu 37 1 4715487 4715487 + Missense_Mutation SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:4715487T>C uc001alm.1 + 1 383 c.2T>C c.(1-3)ATG>ACG p.M1T AJAP1_uc001aln.2_Missense_Mutation_p.M1T NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 1 Extracellular (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) AACGTGACCATGTGGATTCAA 0.731 NA 20 69 0 0 0 0 CROCC 9696 broad.mit.edu 37 1 17263291 17263291 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:17263291G>A uc001azt.2 + 9 1185 c.1116G>A c.(1114-1116)CGG>CGA p.R372R CROCC_uc009voy.1_Silent_p.R75R|CROCC_uc009voz.1_Silent_p.R135R NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 372 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGCAGCTGCGGGACAAGGTGC 0.677 NA 12 54 0 0 0 0 EPHA10 284656 broad.mit.edu 37 1 38227191 38227191 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:38227191C>T uc009vvi.2 - 3 822 c.736G>A c.(736-738)GGG>AGG p.G246R EPHA10_uc001cbw.3_Missense_Mutation_p.G246R NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 246 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAGGCTCCCCTTCCGAGTGC 0.731 NA 25 27 0 0 0 0 RLF 6018 broad.mit.edu 37 1 40702667 40702667 + Missense_Mutation SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:40702667A>G uc001cfc.3 + 8 2324 c.2293A>G c.(2293-2295)AAG>GAG p.K765E RLF_uc001cfd.3_Missense_Mutation_p.K456E NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 765 C2H2-type 4. chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CCATAAACAAAAGCATGACGA 0.393 NA 46 194 0 0 0 0 C1orf123 54987 broad.mit.edu 37 1 53683848 53683848 + Missense_Mutation SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:53683848T>A uc001cvd.2 - 5 299 c.257A>T c.(256-258)TAC>TTC p.Y86F C1orf123_uc001cvc.2_Missense_Mutation_p.Y24F|C1orf123_uc001cve.2_Missense_Mutation_p.Y67F NM_017887 NP_060357 Q9NWV4 CA123_HUMAN hypothetical protein LOC54987 86 pancreas(2) 2 ACTTACATTGTAAGGCTTGAT 0.488 NA 6 32 0 0 0 0 C1orf175 374977 broad.mit.edu 37 1 55144987 55144987 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:55144987G>T uc010ooe.1 + 12 2425 c.2101G>T c.(2101-2103)GCC>TCC p.A701S C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.A269S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.A219S|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.A701S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 701 integral to membrane binding 0 GCTGCTGGCCGCCCTGGAAGG 0.592 NA 39 197 6.24e-21 8.4e-21 1 0 LRRC7 57554 broad.mit.edu 37 1 70555457 70555457 + Silent SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:70555457T>C uc001dep.2 + 23 4416 c.4386T>C c.(4384-4386)AGT>AGC p.S1462S LRRC7_uc009wbg.2_Silent_p.S746S|LRRC7_uc001deq.2_Silent_p.S656S NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1462 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTAGTATCAGTGGTGGAATTA 0.299 NA 26 139 0 0 0 0 CRYZ 1429 broad.mit.edu 37 1 75172657 75172657 + Missense_Mutation SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:75172657T>A uc001dgk.2 - 9 1259 c.754A>T c.(754-756)ATT>TTT p.I252F CRYZ_uc001dgj.2_Missense_Mutation_p.I252F|CRYZ_uc001dgl.2_Missense_Mutation_p.I218F|CRYZ_uc001dgm.2_Missense_Mutation_p.I115F NM_001130042 NP_001123514 Q08257 QOR_HUMAN crystallin, zeta isoform a 252 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding 0 Dicumarol(DB00266) TTTATTTCAATAGTACCTCTG 0.353 NA 55 264 0 0 0 0 CCDC18 343099 broad.mit.edu 37 1 93651989 93651989 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:93651989G>A uc001dpq.2 + 4 913 c.745G>A c.(745-747)GTC>ATC p.V249I NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 131 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TGCTTGTTTGGTCACACAGAA 0.343 NA 29 78 0 0 0 0 IGSF3 3321 broad.mit.edu 37 1 117208931 117208931 + Silent SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:117208931C>G uc001egr.1 - 2 723 c.18G>C c.(16-18)CCG>CCC p.P6P IGSF3_uc001egq.1_Silent_p.P6P NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 6 integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCTCAGCACCGGGAAAAAGC 0.493 NA 18 107 0 0 0 0 GJA8 2703 broad.mit.edu 37 1 147380566 147380566 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:147380566G>A uc001epu.1 + 2 547 c.484G>A c.(484-486)GAA>AAA p.E162K NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 162 Helical; (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GACCCTCTTTGAAGTGGGCTT 0.587 NA 51 180 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152280937 152280937 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:152280937G>T uc001ezu.1 - 3 6461 c.6425C>A c.(6424-6426)CCG>CAG p.P2142Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2142 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTTGGCCCCGGGTGTCCACG 0.577 NA Ichthyosis 106 798 4.38e-64 6.1e-64 1 0 LCE1A 353131 broad.mit.edu 37 1 152800041 152800041 + Silent SNP A A C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:152800041A>C uc010pdw.1 + 1 93 c.93A>C c.(91-93)CCA>CCC p.P31P NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 31 Cys-rich. keratinization ovary(1)|skin(1) 2 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) agtgccccccaaagtgtcccc 0.433 NA 49 134 0 0 0 0 ASH1L 55870 broad.mit.edu 37 1 155340386 155340386 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:155340386C>A uc009wqq.2 - 12 7090 c.6610G>T c.(6610-6612)GAT>TAT p.D2204Y RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2199Y NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2204 SET. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATCCCACTATCCAGGTTCAGG 0.418 NA 58 189 9e-20 1.2e-19 1 0 PAPPA2 60676 broad.mit.edu 37 1 176668318 176668318 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:176668318G>A uc001gkz.2 + 8 3993 c.2829G>A c.(2827-2829)ACG>ACA p.T943T PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 943 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGAACATGACGGTCCCCTGCC 0.602 NA 50 152 0 0 0 0 LAMC1 3915 broad.mit.edu 37 1 183093839 183093839 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:183093839C>T uc001gpy.3 + 14 2732 c.2475C>T c.(2473-2475)TGC>TGT p.C825C NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 825 Laminin EGF-like 7. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAGACTTTGCCGCCTGTGCC 0.507 NA 4 105 0 0 0 0 PROX1 5629 broad.mit.edu 37 1 214178607 214178607 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:214178607G>A uc001hkh.2 + 3 2097 c.1825G>A c.(1825-1827)GAC>AAC p.D609N NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 609 Prospero-type homeobox. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTACTTCTCCGACGTAAAGGT 0.378 NA 22 97 0 0 0 0 PTPN14 5784 broad.mit.edu 37 1 214557343 214557343 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:214557343G>C uc001hkk.1 - 13 2126 c.1855C>G c.(1855-1857)CAG>GAG p.Q619E PTPN14_uc010pty.1_Missense_Mutation_p.Q520E NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 619 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGAGAGACTGATGAACCACC 0.637 NA 24 65 0 0 0 0 MIA3 375056 broad.mit.edu 37 1 222803588 222803588 + Missense_Mutation SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:222803588A>G uc001hnl.2 + 4 3035 c.3026A>G c.(3025-3027)AAT>AGT p.N1009S MIA3_uc009xea.1_Missense_Mutation_p.N845S NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1009 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) ATGAACGAAAATAACATATTT 0.433 NA 35 140 0 0 0 0 TRIM17 51127 broad.mit.edu 37 1 228596365 228596365 + Missense_Mutation SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:228596365T>C uc001hsu.2 - 7 1356 c.971A>G c.(970-972)GAG>GGG p.E324G TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.E324G|TRIM17_uc001hsw.2_Missense_Mutation_p.E297G NM_016102 NP_057186 Q9Y577 TRI17_HUMAN tripartite motif-containing 17 isoform 1 324 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Prostate(94;0.0724) CCCACTGCCCTCCGGCGAAGA 0.637 NA 27 93 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237604656 237604656 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:237604656G>C uc001hyl.1 + 13 1163 c.1043G>C c.(1042-1044)GGC>GCC p.G348A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 348 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAAGTAGATGGCATGGGAACA 0.398 NA 28 114 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237758918 237758918 + Silent SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:237758918A>T uc001hyl.1 + 34 4677 c.4557A>T c.(4555-4557)ACA>ACT p.T1519T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1519 Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCTGCTCACATTCATTGCCA 0.517 NA 10 51 0 0 0 0 OR2B11 127623 broad.mit.edu 37 1 247615247 247615247 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:247615247G>T uc010pyx.1 - 1 38 c.38C>A c.(37-39)CCT>CAT p.P13H NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAAGGCTTTAGGGGAGTCCCC 0.493 NA 38 124 2.52e-25 3.42e-25 1 0 OR2L3 391192 broad.mit.edu 37 1 248224038 248224038 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:248224038C>A uc001idx.1 + 1 55 c.55C>A c.(55-57)CCA>ACA p.P19T OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATTCTTCCCACCATCAAGAAT 0.393 NA 98 436 7.8e-59 1.08e-58 1 0 PLCE1 51196 broad.mit.edu 37 10 95791310 95791310 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr10:95791310G>A uc001kjk.2 + 2 1141 c.507G>A c.(505-507)CAG>CAA p.Q169Q PLCE1_uc010qnx.1_Silent_p.Q169Q NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 169 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TAGGAAATCAGTCAGTGATCA 0.428 NA 62 80 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 106924096 106924096 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr10:106924096G>A uc001kyi.1 + 12 1995 c.1768G>A c.(1768-1770)GGT>AGT p.G590S NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 590 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TACTGATATTGGTGTGTTCAT 0.448 NA 32 45 0 0 0 0 FAM160B1 57700 broad.mit.edu 37 10 116602933 116602933 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr10:116602933C>T uc001lcb.2 + 6 1099 c.764C>T c.(763-765)CCA>CTA p.P255L FAM160B1_uc001lcc.2_Missense_Mutation_p.P255L NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 255 lung(1) 1 GTTGTTTGTCCAAATCAGGAT 0.413 NA 64 111 0 0 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118351941 118351941 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr10:118351941C>T uc001lco.1 + 4 236 c.218C>T c.(217-219)TCT>TTT p.S73F PNLIPRP1_uc001lcp.2_Missense_Mutation_p.S73F|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.S73F|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 73 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) CTCCTCCTCTCTGATCCATCA 0.398 NA 76 107 0 0 0 0 DMBT1 1755 broad.mit.edu 37 10 124339305 124339305 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr10:124339305C>A uc001lgk.1 + 10 997 c.891C>A c.(889-891)GTC>GTA p.V297V DMBT1_uc001lgl.1_Silent_p.V297V|DMBT1_uc001lgm.1_Silent_p.V297V|DMBT1_uc009xzz.1_Silent_p.V297V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V149V NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 297 SRCR 2. 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) GACCCATTGTCCTGGATGATG 0.597 NA 121 153 2.99e-63 4.15e-63 1 0 DMBT1 1755 broad.mit.edu 37 10 124351999 124351999 + Silent SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr10:124351999T>A uc001lgk.1 + 20 2494 c.2388T>A c.(2386-2388)GTT>GTA p.V796V DMBT1_uc001lgl.1_Silent_p.V786V|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.V796V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V409V NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 796 SRCR 6. 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) GACCCATTGTTCTGGATGATG 0.602 NA 7 283 0 0 0 0 OR52K2 119774 broad.mit.edu 37 11 4471232 4471232 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:4471232C>G uc001lyz.1 + 1 663 c.663C>G c.(661-663)ATC>ATG p.I221M NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTCTTATATCTTTATTCTTC 0.483 NA 114 189 0 0 0 0 TRIM22 10346 broad.mit.edu 37 11 5730848 5730848 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:5730848C>T uc001mbr.2 + 8 1744 c.1467C>T c.(1465-1467)GTC>GTT p.V489V TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Silent_p.V485V|TRIM22_uc010qzm.1_Silent_p.V317V|TRIM22_uc009yeu.2_Silent_p.V300V|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 489 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) ACTGCCTAGTCCCCATGACTG 0.483 NA 51 131 0 0 0 0 STK33 65975 broad.mit.edu 37 11 8435138 8435138 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:8435138C>A uc001mgi.1 - 11 2167 c.1248G>T c.(1246-1248)AAG>AAT p.K416N STK33_uc001mgj.1_Missense_Mutation_p.K416N|STK33_uc001mgk.1_Missense_Mutation_p.K416N|STK33_uc010rbn.1_Missense_Mutation_p.K375N|STK33_uc001mgl.3_Missense_Mutation_p.K229N NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 416 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) ACGGCTTATTCTTCTCTTCTG 0.403 NA 104 220 7.35e-47 1.01e-46 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077130 19077130 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:19077130C>T uc001mph.2 - 2 908 c.820G>A c.(820-822)GCC>ACC p.A274T NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 274 Helical; Name=7; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 ATGGGGTTGGCACTGCTGTTA 0.473 NA 36 81 0 0 0 0 CCDC73 493860 broad.mit.edu 37 11 32781750 32781750 + Missense_Mutation SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:32781750T>A uc001mtv.2 - 2 84 c.40A>T c.(40-42)ACT>TCT p.T14S CCDC73_uc001mtw.1_Missense_Mutation_p.T14S|CCDC73_uc009yjt.2_Missense_Mutation_p.T14S NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 14 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) CTTTGAAGAGTAAAAGTAGAT 0.299 NA 55 124 0 0 0 0 OR4C12 283093 broad.mit.edu 37 11 50003946 50003946 + Missense_Mutation SNP A A C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:50003946A>C uc010ria.1 - 1 92 c.92T>G c.(91-93)GTT>GGT p.V31G NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CATGTAAAGAACCAAAAATAC 0.413 NA 38 84 0 0 0 0 OR5L2 26338 broad.mit.edu 37 11 55595068 55595068 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:55595068C>T uc001nhy.1 + 1 374 c.374C>T c.(373-375)GCC>GTC p.A125V NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CGCTTTGTGGCCATCTGTAAC 0.527 NA HNSCC(27;0.073) 81 248 0 0 0 0 OR5J2 282775 broad.mit.edu 37 11 55944902 55944902 + Missense_Mutation SNP A A C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:55944902A>C uc010rjb.1 + 1 809 c.809A>C c.(808-810)CAA>CCA p.Q270P NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TTTGTGGAACAAGAGAAAGTG 0.438 NA 28 138 0 0 0 0 SPTBN2 6712 broad.mit.edu 37 11 66460712 66460712 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:66460712G>A uc001ojd.2 - 23 4871 c.4799C>T c.(4798-4800)GCG>GTG p.A1600V NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1600 Spectrin 13. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCAGGCCTCCGCCTCGGCGGC 0.622 NA 32 111 0 0 0 0 TMEM135 65084 broad.mit.edu 37 11 86802426 86802426 + Missense_Mutation SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:86802426A>T uc001pch.2 + 4 408 c.385A>T c.(385-387)ATG>TTG p.M129L TMEM135_uc010rtt.1_Intron|TMEM135_uc001pci.2_Missense_Mutation_p.M129L|TMEM135_uc001pcg.1_Missense_Mutation_p.M129L NM_022918 NP_075069 Q86UB9 TM135_HUMAN transmembrane protein 135 129 integral to membrane 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CACAATTTATATGGCCAACTT 0.279 NA 34 55 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9310409 9310409 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:9310409G>T uc001qvl.2 - 27 3352 c.3323C>A c.(3322-3324)TCC>TAC p.S1108Y PZP_uc009zgl.2_Missense_Mutation_p.S894Y NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AACATAGGCGGAGAGGGTCGC 0.428 NA 16 57 2.49e-13 3.15e-13 1 0 C12orf69 440087 broad.mit.edu 37 12 14959602 14959602 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:14959602C>A uc001rck.1 - 2 86 c.13G>T c.(13-15)GAC>TAC p.D5Y C12orf60_uc001rcj.3_Intron NM_001013698 NP_001013720 A2RU48 CL069_HUMAN hypothetical protein LOC440087 5 integral to membrane 0 TAAAGGAAGTCACTTTGGGCC 0.388 NA 34 170 4.66e-17 6.1e-17 1 0 STK38L 23012 broad.mit.edu 37 12 27467947 27467947 + Splice_Site SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:27467947G>A uc001rhr.2 + 8 872 c.673_splice c.e8-1 p.G225_splice STK38L_uc001rhs.2_Splice_Site|STK38L_uc010sjm.1_Splice_Site_p.G132_splice|STK38L_uc010sjn.1_Splice_Site|STK38L_uc010sjo.1_5'Flank NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1) 5 Colorectal(261;0.0847) TTTTTTTTTAGGGTCATGTAA 0.289 NA 4 109 0 0 0 0 SLC2A13 114134 broad.mit.edu 37 12 40258621 40258621 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:40258621C>G uc010skm.1 - 6 1313 c.1262G>C c.(1261-1263)CGC>CCC p.R421P C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.R68P NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 421 Extracellular (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) AAAAGTGATGCGTGGGGAAAC 0.408 NA HNSCC(50;0.14) 28 148 0 0 0 0 SPATS2 65244 broad.mit.edu 37 12 49883256 49883256 + Silent SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:49883256G>C uc001rud.2 + 5 1103 c.114G>C c.(112-114)GCG>GCC p.A38A SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Silent_p.A38A|SPATS2_uc001ruf.2_Silent_p.A38A|SPATS2_uc001rug.2_Silent_p.A38A NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 38 cytoplasm breast(1) 1 AGATAAATGCGGTACGTGCAA 0.373 NA 18 43 0 0 0 0 CNPY2 10330 broad.mit.edu 37 12 56708706 56708706 + Missense_Mutation SNP C C G rs79111613 TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:56708706C>G uc001sku.1 - 3 674 c.133G>C c.(133-135)GTG>CTG p.V45L CNPY2_uc001skv.2_Missense_Mutation_p.V45L NM_014255 NP_055070 Q9Y2B0 CNPY2_HUMAN canopy 2 homolog precursor 45 Saposin B-type. endoplasmic reticulum|integral to plasma membrane protein binding 0 TTGGGGTCCACCTGGGCAATT 0.537 NA 6 172 0 0 0 0 TAC3 6866 broad.mit.edu 37 12 57409476 57409476 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:57409476G>T uc001smp.2 - 2 266 c.106C>A c.(106-108)CGC>AGC p.R36S TAC3_uc001smr.2_RNA|TAC3_uc001smq.2_RNA|TAC3_uc001smt.2_RNA|TAC3_uc001sms.2_RNA|TAC3_uc010sqy.1_RNA|TAC3_uc001smu.2_RNA|TAC3_uc001smv.2_RNA|TAC3_uc001smo.2_Missense_Mutation_p.R36S NM_013251 NP_037383 Q9UHF0 TKNK_HUMAN tachykinin 3 precursor 36 female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway extracellular space|soluble fraction receptor binding ovary(1)|skin(1) 2 ACCTTGCTGCGGCCCCCGCCA 0.602 NA 17 153 1.56e-12 1.96e-12 1 0 OAS2 4939 broad.mit.edu 37 12 113444353 113444353 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:113444353G>T uc001tuj.2 + 8 1744 c.1604G>T c.(1603-1605)CGG>CTG p.R535L OAS2_uc001tui.1_Missense_Mutation_p.R535L NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 535 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 ATTCGCTCCCGGCCCACCAAA 0.463 NA 97 198 5.89e-56 8.15e-56 1 0 FBXW8 26259 broad.mit.edu 37 12 117465849 117465849 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:117465849C>T uc001twg.1 + 11 1751 c.1669C>T c.(1669-1671)CGC>TGC p.R557C FBXW8_uc001twf.1_Missense_Mutation_p.R491C|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 557 protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) GGGGCTGATCCGCGCCTATGA 0.622 NA 3 58 0 0 0 0 CIT 11113 broad.mit.edu 37 12 120195319 120195319 + Silent SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:120195319G>C uc001txi.1 - 21 2489 c.2436C>G c.(2434-2436)CTC>CTG p.L812L CIT_uc001txh.1_Silent_p.L346L|CIT_uc001txj.1_Silent_p.L854L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 812 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTGTTGCCTGAGTTCAGAAA 0.527 NA 36 192 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 129694087 129694087 + Nonsense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:129694087G>T uc009zyl.1 - 5 1749 c.1421C>A c.(1420-1422)TCG>TAG p.S474* NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 474 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTCATCAGACGATCTACACTC 0.562 NA 7 58 0.00198382 0.00216214 1 0 ANKLE2 23141 broad.mit.edu 37 12 133331554 133331554 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr12:133331554C>G uc001ukx.2 - 2 414 c.347G>C c.(346-348)AGG>ACG p.R116T ANKLE2_uc001uky.3_Missense_Mutation_p.R54T NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 116 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) AGAAGACAGCCTTCCTCCTTG 0.473 NA 44 79 0 0 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281382 49281382 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr13:49281382C>T uc010acx.1 + 6 1112 c.429C>T c.(427-429)CCC>CCT p.P143P CYSLTR2_uc010acy.1_Silent_p.P143P|CYSLTR2_uc010acz.1_Silent_p.P143P|CYSLTR2_uc010ada.1_Silent_p.P143P|CYSLTR2_uc010adb.1_Silent_p.P143P|CYSLTR2_uc010adc.1_Silent_p.P143P|CYSLTR2_uc010add.1_Silent_p.P143P|CYSLTR2_uc010acw.1_Silent_p.P143P|CYSLTR2_uc001vck.2_Silent_p.P143P NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 143 Helical; Name=3; (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TGGTTCACCCCTTTCGGCTTC 0.478 NA 60 160 0 0 0 0 THSD1 55901 broad.mit.edu 37 13 52971420 52971420 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr13:52971420C>T uc001vgo.2 - 3 1513 c.968G>A c.(967-969)AGC>AAC p.S323N THSD1_uc001vgp.2_Missense_Mutation_p.S323N|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 323 Extracellular (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ATGGCTTCTGCTTGAAATGCC 0.378 NA 39 63 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58208417 58208417 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr13:58208417C>T uc001vhq.1 + 1 2629 c.1737C>T c.(1735-1737)AAC>AAT p.N579N PCDH17_uc010aec.1_Silent_p.N579N NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 579 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGAATGACAACGCGCCAGTGA 0.642 NA 14 51 0 0 0 0 TOX4 9878 broad.mit.edu 37 14 21957451 21957451 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:21957451C>G uc001waz.2 + 5 802 c.699C>G c.(697-699)TTC>TTG p.F233L TOX4_uc001way.2_Missense_Mutation_p.F103L|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.F210L|TOX4_uc010tlv.1_Missense_Mutation_p.F103L NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 233 HMG box. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) ATGCTTTATTCTTTCGTGATA 0.448 NA 30 405 0 0 0 0 FOXG1 2290 broad.mit.edu 37 14 29237742 29237742 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:29237742C>T uc001wqe.2 + 1 1456 c.1257C>T c.(1255-1257)CCC>CCT p.P419P NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 419 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) ACTTTTTCCCCCACGTCCCGC 0.687 NA 32 67 0 0 0 0 SSTR1 6751 broad.mit.edu 37 14 38678698 38678698 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:38678698C>A uc001wul.1 + 3 721 c.104C>A c.(103-105)GCG>GAG p.A35E SSTR1_uc010amu.1_RNA NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 35 Extracellular (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GCCGGCGCTGCGGACGGCATG 0.697 NA 12 30 5.51e-06 6.35e-06 1 0 SEC23A 10484 broad.mit.edu 37 14 39517935 39517935 + Splice_Site SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:39517935T>A uc001wup.1 - 15 1883 c.1660_splice c.e15-1 p.C554_splice SEC23A_uc010tqa.1_Splice_Site_p.C416_splice|SEC23A_uc010tqb.1_Splice_Site_p.C525_splice NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TTTCTGACACTAAATAAAATA 0.313 NA 12 71 0 0 0 0 LRFN5 145581 broad.mit.edu 37 14 42356462 42356462 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:42356462C>A uc001wvm.2 + 3 1832 c.634C>A c.(634-636)CCT>ACT p.P212T LRFN5_uc010ana.2_Missense_Mutation_p.P212T NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 212 Extracellular (Potential).|LRR 7. 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) GAAGCTACCACCTGACCCTCT 0.433 NA HNSCC(30;0.082) 41 130 5.72e-15 7.33e-15 1 0 L2HGDH 79944 broad.mit.edu 37 14 50736024 50736024 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:50736024C>G uc001wxu.2 - 7 842 c.763G>C c.(763-765)GTT>CTT p.V255L L2HGDH_uc010tqn.1_Missense_Mutation_p.V255L|L2HGDH_uc010tqo.1_Missense_Mutation_p.V255L NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase precursor 255 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity ovary(2) 2 all_epithelial(31;0.000599)|Breast(41;0.0102) CATGTCACAACATACTGACAT 0.418 NA 61 246 0 0 0 0 HEATR4 399671 broad.mit.edu 37 14 73985749 73985749 + Missense_Mutation SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:73985749A>T uc010tub.1 - 5 1510 c.1188T>A c.(1186-1188)AGT>AGA p.S396R HEATR4_uc010tua.1_Missense_Mutation_p.S349R NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TTGCCTGGGCACTCCACTTTT 0.468 NA 38 114 0 0 0 0 TTLL5 23093 broad.mit.edu 37 14 76249857 76249857 + Silent SNP C C T rs140291071 by1000genomes TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:76249857C>T uc001xrx.2 + 26 3175 c.2970C>T c.(2968-2970)CCC>CCT p.P990P TTLL5_uc010ask.1_Silent_p.P1004P|TTLL5_uc001xrz.2_Silent_p.P565P|TTLL5_uc001xsa.2_Silent_p.P63P|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 990 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) TGTCTCGTCCCTCTTCAGCAA 0.512 NA 33 129 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 80328091 80328091 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:80328091C>T uc001xun.2 + 17 3461 c.2970C>T c.(2968-2970)GTC>GTT p.V990V NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.V566V|NRXN3_uc010asw.2_Silent_p.V388V|NRXN3_uc001xur.3_Silent_p.V361V NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1572 Helical; (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGATGGTCGTCGGCATTGTGG 0.607 NA 20 51 0 0 0 0 SERPINA10 51156 broad.mit.edu 37 14 94750385 94750385 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:94750385G>A uc001yct.2 - 5 1718 c.1252C>T c.(1252-1254)CGG>TGG p.R418W SERPINA10_uc001ycu.3_Missense_Mutation_p.R418W NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 418 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TGAAATGGCCGGTCCACTTTG 0.453 NA 4 156 0 0 0 0 APBA2 321 broad.mit.edu 37 15 29386517 29386517 + Splice_Site SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr15:29386517G>T uc001zck.2 + 7 1458 c.1251_splice c.e7+1 p.A417_splice APBA2_uc010azj.2_Intron|APBA2_uc010uat.1_Intron|APBA2_uc001zcl.2_Intron|APBA2_uc001zcm.1_Intron NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GAAAAAAGCGGTGTGTAGGGC 0.517 NA 42 114 1.87e-21 2.52e-21 1 0 AQP9 366 broad.mit.edu 37 15 58471405 58471405 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr15:58471405G>C uc002aez.2 + 5 931 c.574G>C c.(574-576)GAG>CAG p.E192Q ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.E127Q NM_020980 NP_066190 O43315 AQP9_HUMAN aquaporin 9 192 Helical; (Potential). cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity ovary(1) 1 GBM - Glioblastoma multiforme(80;0.16) CAGAGGCCTAGAGCCCATTGC 0.552 NA 14 65 0 0 0 0 HERC1 8925 broad.mit.edu 37 15 64041644 64041644 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr15:64041644C>A uc002amp.2 - 10 2289 c.2141G>T c.(2140-2142)GGC>GTC p.G714V HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 714 RCC1 7. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GCCATCTAAGCCACTCACTTT 0.428 NA 74 128 6.64e-20 8.9e-20 1 0 MSLN 10232 broad.mit.edu 37 16 815291 815291 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr16:815291G>A uc002cjw.1 + 8 743 c.692G>A c.(691-693)GGA>GAA p.G231E MSLN_uc002cjt.1_Missense_Mutation_p.G231E|MSLN_uc002cju.1_Missense_Mutation_p.G231E|MSLN_uc010brd.1_Missense_Mutation_p.G230E|MSLN_uc002cjv.1_Missense_Mutation_p.G231E|MSLN_uc002cjx.1_Missense_Mutation_p.G231E|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 231 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) CAGGGCGGGGGACCCCCCTAC 0.692 NA 6 6 0 0 0 0 ADCY7 113 broad.mit.edu 37 16 50332901 50332901 + Silent SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr16:50332901G>C uc002egd.1 + 7 1303 c.1035G>C c.(1033-1035)CGG>CGC p.R345R ADCY7_uc002egb.1_Silent_p.R345R|ADCY7_uc002egc.1_Silent_p.R345R NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 345 Cytoplasmic (Potential).|Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CCCACGCCCGGAACTGCGTGA 0.637 NA 19 81 0 0 0 0 GPR114 221188 broad.mit.edu 37 16 57597828 57597828 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr16:57597828C>T uc002elx.3 + 5 451 c.366C>T c.(364-366)TGC>TGT p.C122C GPR114_uc010vhr.1_Silent_p.C122C|GPR114_uc002ely.2_Silent_p.C122C NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 122 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 GGGACGCCTGCAAGACCCGCC 0.637 NA 41 106 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65026867 65026867 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr16:65026867C>A uc002eoi.2 - 5 1028 c.594G>T c.(592-594)GTG>GTT p.V198V CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.V198V|CDH11_uc010vin.1_Silent_p.V72V NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 198 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GGATACTGTACACTAACTTGG 0.423 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 23 119 6.36e-07 7.48e-07 1 0 CHTF8 54921 broad.mit.edu 37 16 69155027 69155027 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr16:69155027C>A uc002ewn.1 - 3 171 c.70G>T c.(70-72)GGG>TGG p.G24W CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_Missense_Mutation_p.G5W|CHTF8_uc002ewp.1_Missense_Mutation_p.G24W NM_001040146 NP_001035236 P0CG13 CTF8_HUMAN chromosome transmission fidelity factor 8 24 cell cycle|DNA replication nucleus DNA binding 0 TCGATCTCCCCCTGTAGCTCC 0.542 NA 36 253 6.97e-18 9.2e-18 1 0 HYDIN 54768 broad.mit.edu 37 16 70863519 70863519 + Splice_Site SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr16:70863519A>T uc002ezr.2 - 81 14237 c.14109_splice c.e81+1 p.Q4703_splice HYDIN_uc010cfy.2_Splice_Site NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a ovary(1)|skin(1) 2 Ovarian(137;0.0654) ACCTCAGTCTACCTGGTGCTT 0.498 NA 13 61 0 0 0 0 ZFPM1 161882 broad.mit.edu 37 16 88552448 88552448 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr16:88552448G>A uc002fkv.2 + 2 175 c.142G>A c.(142-144)GCA>ACA p.A48T NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 48 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) CCCTCCCAGCGCAGGTGAGTC 0.642 NA 7 33 0 0 0 0 PER1 5187 broad.mit.edu 37 17 8044393 8044393 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:8044393G>A uc002gkd.2 - 23 4104 c.3866C>T c.(3865-3867)ACC>ATC p.T1289I PER1_uc010cns.2_Missense_Mutation_p.T163I|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1289 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 AGTCTAGCTGGTGCAGTTTCC 0.542 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 7 297 0 0 0 0 AURKB 9212 broad.mit.edu 37 17 8111074 8111074 + Missense_Mutation SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:8111074A>G uc002gkm.2 - 3 194 c.133T>C c.(133-135)TCC>CCC p.S45P AURKB_uc010cnu.2_5'UTR|AURKB_uc002gkn.2_Missense_Mutation_p.S45P|AURKB_uc010vuu.1_Missense_Mutation_p.S4P|AURKB_uc002gko.2_RNA NM_004217 NP_004208 Q96GD4 AURKB_HUMAN aurora kinase B 45 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(1)|central_nervous_system(1) 4 TGGACATTGGAGCGGCTCATG 0.612 NA 16 48 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18046140 18046140 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:18046140C>G uc010vxh.1 + 24 6234 c.5896C>G c.(5896-5898)CGA>GGA p.R1966G NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1966 IQ 3.|Neck or regulatory domain. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CGTGAGCCGCCGACGCTATCT 0.527 NA 4 33 0 0 0 0 SMCR7 125170 broad.mit.edu 37 17 18166425 18166425 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:18166425G>T uc002gst.2 + 3 384 c.173G>T c.(172-174)CGG>CTG p.R58L SMCR7_uc002gsu.2_Missense_Mutation_p.R58L|SMCR7_uc010vxq.1_Missense_Mutation_p.R69L NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 58 integral to membrane protein binding 0 all_neural(463;0.228) ACTAGCCCGCGGGATGAGGAT 0.577 NA 16 116 2.39e-15 3.09e-15 1 0 RNF112 7732 broad.mit.edu 37 17 19315865 19315865 + Silent SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:19315865G>T uc010vyw.1 + 3 349 c.150G>T c.(148-150)GCG>GCT p.A50A RNF112_uc010vyu.1_Silent_p.A50A|RNF112_uc010vyv.1_Silent_p.A50A|RNF112_uc010vyx.1_Silent_p.A2A NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 50 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 AGCCCATGGCGCCCCGGGAGC 0.617 NA 9 42 4.69e-08 5.55e-08 1 0 BLMH 642 broad.mit.edu 37 17 28601109 28601109 + Nonsense_Mutation SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:28601109A>T uc002hez.1 - 7 989 c.752T>A c.(751-753)TTG>TAG p.L251* BLMH_uc010wbn.1_Nonsense_Mutation_p.L164* NM_000386 NP_000377 Q13867 BLMH_HUMAN bleomycin hydrolase 251 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding ovary(1) 1 GTAAAACTCCAAGGGTGTTAT 0.428 NA 39 126 0 0 0 0 TMEM98 26022 broad.mit.edu 37 17 31267870 31267870 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:31267870G>A uc002hhq.2 + 8 998 c.540G>A c.(538-540)ACG>ACA p.T180T TMEM98_uc002hhr.2_Silent_p.T180T NM_015544 NP_056359 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 180 endoplasmic reticulum|integral to membrane 0 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) GCCATCTGACGGGAGGCCTGG 0.547 NA 32 144 0 0 0 0 CCL16 6360 broad.mit.edu 37 17 34308415 34308415 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:34308415G>A uc002hkl.2 - 1 109 c.42C>T c.(40-42)ATC>ATT p.I14I CCL16_uc002hkm.2_RNA NM_004590 NP_004581 O15467 CCL16_HUMAN small inducible cytokine A16 precursor 14 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TAATGATAAGGATGAGGACAA 0.557 NA 8 31 0 0 0 0 BRCA1 672 broad.mit.edu 37 17 41246660 41246660 + Silent SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:41246660T>C uc002icq.2 - 10 1120 c.888A>G c.(886-888)AGA>AGG p.R296R BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.R225R|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.R249R|BRCA1_uc002ict.2_Silent_p.R296R|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.R296R|BRCA1_uc002ide.1_Silent_p.R127R|BRCA1_uc010cyy.1_Silent_p.R296R|BRCA1_uc010whs.1_Silent_p.R296R|BRCA1_uc010cyz.2_Silent_p.R249R|BRCA1_uc010cza.2_Silent_p.R270R|BRCA1_uc010wht.1_5'UTR NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 296 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CTACATTCATTCTGTCTTTAG 0.408 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 52 145 0 0 0 0 COL1A1 1277 broad.mit.edu 37 17 48278851 48278851 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:48278851C>A uc002iqm.2 - 1 150 c.24G>T c.(22-24)CGG>CGT p.R8R NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 8 axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) GGAGCAGGAGCCGGAGGTCCA 0.592 NA T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 9 52 0.00448238 0.00487746 1 0 MPO 4353 broad.mit.edu 37 17 56348209 56348209 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:56348209G>C uc002ivu.1 - 12 2223 c.2046C>G c.(2044-2046)AAC>AAG p.N682K NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 682 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) ACACACCCTCGTTCTCCCACC 0.577 NA 7 109 0 0 0 0 HELZ 9931 broad.mit.edu 37 17 65174991 65174991 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:65174991C>A uc010wqk.1 - 13 1401 c.1214G>T c.(1213-1215)CGT>CTT p.R405L HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R405L NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGAATCCCAACGTTTAGCTGT 0.348 NA 17 141 1.34e-09 1.62e-09 1 0 KLHL14 57565 broad.mit.edu 37 18 30254696 30254696 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr18:30254696C>T uc002kxm.1 - 9 2199 c.1811G>A c.(1810-1812)GGA>GAA p.G604E KLHL14_uc010dmd.1_Missense_Mutation_p.G153E NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 604 Kelch 6. cytosol|endoplasmic reticulum membrane ovary(1) 1 TGCTACATCTCCTTCGAGTTC 0.468 NA 74 174 0 0 0 0 ZNF516 9658 broad.mit.edu 37 18 74154630 74154630 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr18:74154630C>A uc010dqx.1 - 2 616 c.381G>T c.(379-381)CTG>CTT p.L127L ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCCCGTTCAGCAGCCGGTTGC 0.751 NA 5 6 5.18e-06 5.99e-06 1 0 ZNF14 7561 broad.mit.edu 37 19 19822314 19822314 + Nonsense_Mutation SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr19:19822314A>T uc002nnk.1 - 4 1930 c.1776T>A c.(1774-1776)TGT>TGA p.C592* NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 592 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) AGGCTTTCCCACATTGTTTAC 0.383 NA 50 74 0 0 0 0 NUP62 23636 broad.mit.edu 37 19 50412642 50412642 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr19:50412642C>T uc002pqx.2 - 2 527 c.423G>A c.(421-423)GTG>GTA p.V141V IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.V141V|NUP62_uc002pqz.2_Silent_p.V141V|NUP62_uc002pra.2_Silent_p.V141V|NUP62_uc002prb.2_Silent_p.V141V|NUP62_uc002prc.2_Silent_p.V141V NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 141 15 X 9 AA approximate repeats.|Thr-rich.|9. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGGGGCCAAACACAAAGCCGG 0.602 NA 11 108 0 0 0 0 LRRC4B 94030 broad.mit.edu 37 19 51020919 51020919 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr19:51020919C>A uc002pss.2 - 3 2188 c.2051G>T c.(2050-2052)GGG>GTG p.G684V ASPDH_uc002psr.3_5'Flank NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 684 Cytoplasmic (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GCCTTTGCCCCCGCAGCCCCC 0.627 NA 13 19 0.000151284 0.000169509 1 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733088 56733088 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr19:56733088G>A uc002qmq.2 - 5 1513 c.1347C>T c.(1345-1347)TTC>TTT p.F449F ZSCAN5A_uc010ygi.1_Silent_p.F332F|ZSCAN5A_uc002qmr.2_Silent_p.F449F|ZSCAN5A_uc002qms.1_Silent_p.F448F NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 449 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CCCTGTAGGTGAAAACTTTCT 0.507 NA 27 79 0 0 0 0 APOB 338 broad.mit.edu 37 2 21245717 21245717 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:21245717C>A uc002red.2 - 18 2930 c.2802G>T c.(2800-2802)AAG>AAT p.K934N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 934 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CACTGAGCAGCTTGACTGGTC 0.478 NA 18 55 6.94e-10 8.51e-10 1 0 THADA 63892 broad.mit.edu 37 2 43776495 43776495 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:43776495C>A uc002rsw.3 - 20 3312 c.2960G>T c.(2959-2961)CGC>CTC p.R987L THADA_uc010far.2_Missense_Mutation_p.R256L|THADA_uc002rsx.3_Missense_Mutation_p.R987L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.R696L|THADA_uc010fat.1_Missense_Mutation_p.R134L|THADA_uc002rta.2_Missense_Mutation_p.R697L NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 987 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CATCTGTAAGCGGCTTGCTGA 0.383 NA 3 11 0.004672 0.00501944 1 0 NRXN1 9378 broad.mit.edu 37 2 50847323 50847323 + Splice_Site SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:50847323T>A uc010fbq.2 - 8 2756 c.1279_splice c.e8-1 p.V427_splice NRXN1_uc002rxb.3_Splice_Site_p.V59_splice|NRXN1_uc002rxe.3_Splice_Site_p.V387_splice|NRXN1_uc002rxc.1_Splice_Site NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TATTGTCACCTAGATAACAAA 0.388 NA 3 42 0 0 0 0 USP34 9736 broad.mit.edu 37 2 61508321 61508321 + Silent SNP C C T rs4645002 TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:61508321C>T uc002sbe.2 - 38 5077 c.5055G>A c.(5053-5055)CTG>CTA p.L1685L USP34_uc002sbf.2_5'Flank NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1685 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CTCCTCCATCCAGCCCTGACA 0.403 NA 9 32 0 0 0 0 AFTPH 54812 broad.mit.edu 37 2 64780055 64780055 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:64780055G>T uc002sdc.2 + 1 1479 c.1447G>T c.(1447-1449)GAT>TAT p.D483Y AFTPH_uc002scz.2_Missense_Mutation_p.D483Y|AFTPH_uc002sda.2_Missense_Mutation_p.D483Y|AFTPH_uc002sdb.2_Missense_Mutation_p.D483Y NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 483 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 AGAATTTGGGGATATAAATGC 0.368 NA 33 172 3.33e-15 4.3e-15 1 0 STAMBP 10617 broad.mit.edu 37 2 74089382 74089382 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:74089382G>A uc002sjs.2 + 10 1321 c.1271G>A c.(1270-1272)CGA>CAA p.R424Q STAMBP_uc002sjt.2_Missense_Mutation_p.R424Q|STAMBP_uc002sju.2_Missense_Mutation_p.R424Q|STAMBP_uc002sjv.2_Missense_Mutation_p.R424Q NM_201647 NP_964010 O95630 STABP_HUMAN STAM binding protein 424 JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding ovary(1)|lung(1)|breast(1)|pancreas(1) 4 ACAGACCTTCGATGAGCGTTT 0.423 NA 16 96 0 0 0 0 REG3G 130120 broad.mit.edu 37 2 79254986 79254986 + Silent SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:79254986T>C uc002snw.2 + 5 472 c.387T>C c.(385-387)AAT>AAC p.N129N REG3G_uc002snx.2_Silent_p.N129N|REG3G_uc010ffu.2_Silent_p.N83N NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 129 C-type lectin. acute-phase response extracellular region sugar binding 0 ATGTGATGAATTACTTTGCAT 0.507 NA 34 169 0 0 0 0 VWA3B 200403 broad.mit.edu 37 2 98828426 98828426 + Nonsense_Mutation SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:98828426A>T uc002syo.2 + 13 2035 c.1771A>T c.(1771-1773)AAA>TAA p.K591* VWA3B_uc010yvh.1_Nonsense_Mutation_p.K441*|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Nonsense_Mutation_p.K110*|VWA3B_uc002sym.2_Nonsense_Mutation_p.K591*|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Nonsense_Mutation_p.K248*|VWA3B_uc002syp.1_5'UTR|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_5'UTR NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 591 VWFA. ovary(3)|large_intestine(2)|skin(1) 6 GAGTGCCCTGAAAACTGCTTT 0.443 NA 28 98 0 0 0 0 CHST10 9486 broad.mit.edu 37 2 101014428 101014428 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:101014428G>C uc002tam.2 - 5 728 c.369C>G c.(367-369)TTC>TTG p.F123L NM_004854 NP_004845 O43529 CHSTA_HUMAN HNK-1 sulfotransferase 123 Lumenal (Potential). carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction ovary(1) 1 GAGTCTGGCAGAAAAGAATCT 0.493 NA 27 99 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166848385 166848385 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:166848385C>T uc010zcz.1 - 26 5385 c.5367G>A c.(5365-5367)CTG>CTA p.L1789L NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1800 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CATCCTCACTCAGAGGCTCTG 0.433 NA 33 154 0 0 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169699618 169699618 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:169699618C>T uc002ueg.2 + 8 625 c.621C>T c.(619-621)AAC>AAT p.N207N NOSTRIN_uc002uef.2_Silent_p.N207N|NOSTRIN_uc002uei.2_Silent_p.N90N|NOSTRIN_uc010fpu.2_Silent_p.N179N|NOSTRIN_uc002ueh.2_Silent_p.N129N|NOSTRIN_uc002uej.2_Silent_p.N90N NM_001039724 NP_001034813 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficker isoform 2 207 Potential. endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding 0 CACTAGAGAACTGCTACCAGG 0.333 NA 11 54 0 0 0 0 CHN1 1123 broad.mit.edu 37 2 175666459 175666459 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:175666459C>G uc002uji.2 - 12 1714 c.1184G>C c.(1183-1185)CGG>CCG p.R395P CHN1_uc010zeq.1_Missense_Mutation_p.R369P|CHN1_uc002ujj.2_Missense_Mutation_p.R170P|CHN1_uc002ujg.2_Missense_Mutation_p.R270P NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 395 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.R395Q(1) ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) CATGAGGTACCGGAGGGTTTC 0.413 NA T TAF15 extraskeletal myxoid chondrosarcoma 44 143 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179447313 179447313 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:179447313G>C uc010zfg.1 - 263 58390 c.58166C>G c.(58165-58167)CCG>CGG p.P19389R uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13084R|TTN_uc010zfi.1_Missense_Mutation_p.P13017R|TTN_uc010zfj.1_Missense_Mutation_p.P12892R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20316 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGAGGACCCGGTTTATCTGA 0.313 NA 6 47 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179590124 179590124 + Missense_Mutation SNP C C G rs2742326 TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:179590124C>G uc010zfg.1 - 68 17299 c.17075G>C c.(17074-17076)AGG>ACG p.R5692T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2353T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATGTTCTCCCTCATTCCACC 0.338 NA 8 12 0 0 0 0 KLF7 8609 broad.mit.edu 37 2 207953303 207953303 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:207953303C>T uc002vbz.1 - 3 1058 c.736G>A c.(736-738)GAG>AAG p.E246K KLF7_uc002vca.1_Silent_p.V178V|KLF7_uc010zix.1_Missense_Mutation_p.E218K NM_003709 NP_003700 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 246 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) TAAGGCTTCTCACCTGCAAGA 0.547 NA 20 78 0 0 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209169573 209169573 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:209169573C>G uc002vcz.2 + 12 1630 c.1472C>G c.(1471-1473)TCT>TGT p.S491C PIKFYVE_uc010fun.1_Missense_Mutation_p.S172C|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Missense_Mutation_p.S394C|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S491C|PIKFYVE_uc002vcx.2_Missense_Mutation_p.S405C NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 491 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CTAAAAGATTCTGCCAGTCCT 0.468 NA 12 116 0 0 0 0 SPEG 10290 broad.mit.edu 37 2 220312735 220312735 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:220312735C>T uc010fwg.2 + 4 855 c.855C>T c.(853-855)GAC>GAT p.D285D SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 285 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGGAGCCCGACCTTCAGCCTC 0.672 NA 12 34 0 0 0 0 USP40 55230 broad.mit.edu 37 2 234465564 234465564 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:234465564C>A uc010zmu.1 - 5 601 c.483G>T c.(481-483)CTG>CTT p.L161L USP40_uc010zmr.1_Silent_p.L173L Q9NVE5 UBP40_HUMAN SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15); 161 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TTCCATGGTACAGACGATAGA 0.403 NA 21 65 7.42e-09 8.87e-09 1 0 CST7 8530 broad.mit.edu 37 20 24937978 24937978 + Missense_Mutation SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr20:24937978A>G uc002wtx.1 + 2 402 c.192A>G c.(190-192)ATA>ATG p.I64M NM_003650 NP_003641 O76096 CYTF_HUMAN cystatin F 42 immune response cytoplasm|extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 CTAAAACAATAAAGACCAATG 0.458 NA 97 312 0 0 0 0 C20orf11 54994 broad.mit.edu 37 20 61572952 61572952 + Missense_Mutation SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr20:61572952T>A uc002ydy.2 + 2 275 c.98T>A c.(97-99)ATC>AAC p.I33N NM_017896 NP_060366 Q9NWU2 CT011_HUMAN chromosome 20 open reading frame 11 33 LisH. nucleus protein binding 0 Breast(26;5.68e-08) AACCGCCTCATCATGAACTAC 0.438 NA 26 80 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26164925 26164925 + Missense_Mutation SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr22:26164925A>G uc003abz.1 + 4 1292 c.1042A>G c.(1042-1044)ACA>GCA p.T348A MYO18B_uc003aca.1_Missense_Mutation_p.T229A|MYO18B_uc010guy.1_Missense_Mutation_p.T229A|MYO18B_uc010guz.1_Missense_Mutation_p.T229A|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 348 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GGCAGAGAAGACAGGTGAGCC 0.547 NA 7 18 0 0 0 0 CHL1 10752 broad.mit.edu 37 3 404935 404935 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:404935G>C uc003bou.2 + 13 1677 c.1406G>C c.(1405-1407)AGG>ACG p.R469T CHL1_uc003bot.2_Missense_Mutation_p.R485T|CHL1_uc003bow.1_Missense_Mutation_p.R469T|CHL1_uc011asi.1_Missense_Mutation_p.R485T NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 469 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTGGAGGGCAGGCGGTATCAT 0.428 NA 20 60 0 0 0 0 RAD18 56852 broad.mit.edu 37 3 8944189 8944189 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:8944189C>A uc003brd.2 - 10 1120 c.1043G>T c.(1042-1044)AGT>ATT p.S348I RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 348 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) CTGAAATTCACTCTTATGTTT 0.333 NA Rad6_pathway 33 93 2.19e-23 2.98e-23 1 0 ARPP21 10777 broad.mit.edu 37 3 35748546 35748546 + Missense_Mutation SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:35748546A>T uc003cgb.2 + 10 1031 c.767A>T c.(766-768)AAC>ATC p.N256I ARPP21_uc003cga.2_Missense_Mutation_p.N256I|ARPP21_uc011axy.1_Missense_Mutation_p.N256I|ARPP21_uc003cgf.2_Missense_Mutation_p.N92I NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 256 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 AAGCGAGATAACTCTAGTATT 0.398 NA 36 71 0 0 0 0 VILL 50853 broad.mit.edu 37 3 38035866 38035866 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:38035866C>A uc003chj.2 + 4 536 c.250C>A c.(250-252)CAG>AAG p.Q84K VILL_uc003chk.1_Missense_Mutation_p.Q84K|VILL_uc003chl.2_Missense_Mutation_p.Q84K|VILL_uc010hgu.2_5'UTR NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 84 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GCAGCGCCTACAGGACGAGCT 0.701 NA 14 24 1.05e-09 1.28e-09 1 0 NSUN3 63899 broad.mit.edu 37 3 93781974 93781974 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:93781974C>T uc003drl.1 + 1 120 c.4C>T c.(4-6)CTG>TTG p.L2L DHFRL1_uc003dri.2_5'Flank|DHFRL1_uc003drj.2_5'UTR|NSUN3_uc003drk.2_RNA NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 2 methyltransferase activity skin(1) 1 CGGGACAATGCTGACCCAGGT 0.572 NA 55 186 0 0 0 0 DZIP3 9666 broad.mit.edu 37 3 108403092 108403092 + Silent SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:108403092G>C uc003dxd.2 + 27 3335 c.2913G>C c.(2911-2913)GTG>GTC p.V971V DZIP3_uc003dxf.1_Silent_p.V971V|DZIP3_uc011bhm.1_Silent_p.V422V NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 971 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GACCTCTTGTGAAAGAATCTT 0.413 NA 117 417 0 0 0 0 FBXO40 51725 broad.mit.edu 37 3 121340297 121340297 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:121340297C>A uc003eeg.2 + 3 231 c.21C>A c.(19-21)TCC>TCA p.S7S NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 7 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) CCCGCAGATCCCCGCCAGGGC 0.532 NA 37 235 2.47e-13 3.14e-13 1 0 CCDC14 64770 broad.mit.edu 37 3 123634533 123634533 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:123634533G>A uc011bjx.1 - 13 2046 c.1955C>T c.(1954-1956)TCC>TTC p.S652F CCDC14_uc003egv.3_Missense_Mutation_p.S293F|CCDC14_uc003egx.3_Missense_Mutation_p.S452F|CCDC14_uc010hrt.2_Missense_Mutation_p.S611F|CCDC14_uc003egy.3_Missense_Mutation_p.S452F|CCDC14_uc003egz.2_Intron NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 652 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) ACTAAGATCGGAGAGAAGCTT 0.383 NA 70 187 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 151094808 151094808 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:151094808C>G uc003eyp.2 + 28 4091 c.4053C>G c.(4051-4053)AAC>AAG p.N1351K MED12L_uc011bnz.1_Missense_Mutation_p.N1211K|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.N514K NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1351 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAATGAACAACTTACTGGACA 0.398 NA 22 82 0 0 0 0 TIPARP 25976 broad.mit.edu 37 3 156411959 156411959 + Silent SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:156411959A>T uc003fav.2 + 3 1316 c.1068A>T c.(1066-1068)GGA>GGT p.G356G TIPARP_uc003faw.2_Silent_p.G356G NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 356 WWE. NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|breast(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ACCACTTTGGATGGAGAGAGT 0.373 NA 69 225 0 0 0 0 LEKR1 389170 broad.mit.edu 37 3 156710895 156710895 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:156710895C>T uc003fba.1 + 10 1361 c.26C>T c.(25-27)TCT>TTT p.S9F NM_001004316 NP_001004316 Q6ZMV7 LEKR1_HUMAN leucine, glutamate and lysine rich 1 70 0 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AAAGAAGACTCTTTAATGACT 0.318 NA 22 87 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905718 164905718 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:164905718G>A uc003fej.3 - 2 3345 c.2901C>T c.(2899-2901)CTC>CTT p.L967L SLITRK3_uc003fek.2_Silent_p.L967L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 967 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCAGGACTTCGAGGTAATCCG 0.388 NA HNSCC(40;0.11) 79 270 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906404 164906404 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:164906404C>T uc003fej.3 - 2 2659 c.2215G>A c.(2215-2217)GTG>ATG p.V739M SLITRK3_uc003fek.2_Missense_Mutation_p.V739M NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 739 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TACTCATACACATGACCCACG 0.458 NA HNSCC(40;0.11) 43 112 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179095193 179095193 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:179095193C>T uc003fjs.2 + 12 1412 c.1286C>T c.(1285-1287)TCA>TTA p.S429L MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.S457L|MFN1_uc010hxc.2_Missense_Mutation_p.S282L NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 429 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GAATTTTGTTCAGAGTTTCAT 0.264 NA 32 123 0 0 0 0 ATP11B 23200 broad.mit.edu 37 3 182602582 182602582 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:182602582G>C uc003flb.2 + 22 2808 c.2551G>C c.(2551-2553)GAC>CAC p.D851H ATP11B_uc003flc.2_Missense_Mutation_p.D435H|ATP11B_uc011bqm.1_Missense_Mutation_p.D155H|ATP11B_uc010hxf.1_Missense_Mutation_p.D13H NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 851 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AAGAAACAGTGACTATGCAAT 0.318 NA 27 85 0 0 0 0 FETUB 26998 broad.mit.edu 37 3 186358267 186358267 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr3:186358267C>T uc010hyq.2 + 2 279 c.18C>T c.(16-18)CCC>CCT p.P6P FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Silent_p.P6P|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Silent_p.P6P|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Silent_p.P6P NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 6 extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) TGCTCCTTCCCCTGGCACTCT 0.597 NA 65 391 0 0 0 0 ZNF595 152687 broad.mit.edu 37 4 59413 59413 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:59413G>T uc003fzv.1 + 2 250 c.94G>T c.(94-96)GTG>TTG p.V32L ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.V32L|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 32 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GTATAGAGATGTGATGTTGGA 0.433 NA 43 546 2.25e-16 2.93e-16 1 0 KIAA1211 57482 broad.mit.edu 37 4 57182340 57182340 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:57182340G>A uc003hbk.2 + 8 3063 c.2672G>A c.(2671-2673)GGA>GAA p.G891E KIAA1211_uc010iha.2_Missense_Mutation_p.G884E|KIAA1211_uc011bzz.1_Missense_Mutation_p.G801E|KIAA1211_uc003hbm.1_Missense_Mutation_p.G777E NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 891 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) AGCGCTCGTGGAGAGAAAGAG 0.627 NA 7 35 0 0 0 0 SMR3A 26952 broad.mit.edu 37 4 71232413 71232413 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:71232413C>A uc003hfg.1 + 3 188 c.107C>A c.(106-108)GCT>GAT p.A36D SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 36 Pro-rich. extracellular region 0 all_hematologic(202;0.196) GGACCACTGGCTCCTCCTCCT 0.488 NA 46 162 1.19e-25 1.63e-25 1 0 NHEDC2 133308 broad.mit.edu 37 4 103988651 103988651 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:103988651C>A uc003hwx.3 - 2 929 c.57G>T c.(55-57)ATG>ATT p.M19I NHEDC2_uc003hwy.2_Missense_Mutation_p.M19I|NHEDC2_uc011cew.1_Missense_Mutation_p.M19I|NHEDC2_uc011cex.1_Missense_Mutation_p.M19I|NHEDC2_uc011cey.1_Missense_Mutation_p.M19I NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Na+/H+ exchanger domain containing 2 19 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity 0 OV - Ovarian serous cystadenocarcinoma(123;2.3e-08) GCGTGTAATTCATTCCTGTGG 0.363 NA 51 144 7.71e-15 9.86e-15 1 0 INTS12 57117 broad.mit.edu 37 4 106604207 106604207 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:106604207C>T uc003hxw.2 - 8 1330 c.1072G>A c.(1072-1074)GTA>ATA p.V358I INTS12_uc010ilr.2_Missense_Mutation_p.V358I NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 358 Ser-rich. snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TTTAAAGGTACAGTGGGCGTA 0.463 NA 78 240 0 0 0 0 CFI 3426 broad.mit.edu 37 4 110667391 110667391 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:110667391C>G uc003hzr.3 - 11 1624 c.1416G>C c.(1414-1416)TGG>TGC p.W472C CFI_uc003hzq.2_Missense_Mutation_p.W269C|CFI_uc011cft.1_Missense_Mutation_p.W480C|CFI_uc003hzs.3_Missense_Mutation_p.W465C NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 472 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TTTCTCGTCCCCAGCCAGAAA 0.418 NA 29 89 0 0 0 0 NDST4 64579 broad.mit.edu 37 4 115858571 115858571 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:115858571C>A uc003ibu.2 - 5 1989 c.1310G>T c.(1309-1311)TGG>TTG p.W437L NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 437 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GACCTTCTTCCAAGCTGCATA 0.483 NA 43 133 8.16e-20 1.09e-19 1 0 ADAD1 132612 broad.mit.edu 37 4 123336765 123336765 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:123336765C>A uc003ieo.2 + 11 1713 c.1481C>A c.(1480-1482)ACT>AAT p.T494N ADAD1_uc003iep.2_Missense_Mutation_p.T483N|ADAD1_uc003ieq.2_Missense_Mutation_p.T476N NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 494 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 GGGAAGATCACTGAAAGGTTA 0.323 NA 52 196 3.95e-17 5.18e-17 1 0 INPP4B 8821 broad.mit.edu 37 4 143350367 143350367 + Missense_Mutation SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:143350367A>G uc003iix.3 - 6 690 c.95T>C c.(94-96)ATC>ACC p.I32T INPP4B_uc003iiw.3_Missense_Mutation_p.I32T|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA|INPP4B_uc003iiz.2_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 32 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) AGTCTTCTGGATACCTATAAA 0.274 NA 15 30 0 0 0 0 POU4F2 5458 broad.mit.edu 37 4 147561057 147561057 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:147561057C>A uc003ikv.2 + 2 575 c.327C>A c.(325-327)GCC>GCA p.A109A NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 109 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) GTCTGCTGGCCCGCGCCGAGG 0.602 NA 8 26 9.7e-10 1.19e-09 1 0 TTC29 83894 broad.mit.edu 37 4 147741347 147741347 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:147741347G>A uc003ikw.3 - 10 1258 c.1031C>T c.(1030-1032)GCA>GTA p.A344V TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.A370V|TTC29_uc010ipd.1_Missense_Mutation_p.A344V NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 344 TPR 4. binding 0 all_hematologic(180;0.151) ATTGTTTCTTGCAATTTTCAC 0.333 NA 8 108 0 0 0 0 LRAT 9227 broad.mit.edu 37 4 155670238 155670238 + Missense_Mutation SNP A A G rs140421566 by1000genomes TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:155670238A>G uc003iom.1 + 2 970 c.643A>G c.(643-645)ACT>GCT p.T215A LRAT_uc003ion.1_Missense_Mutation_p.T215A NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 215 Helical; (Potential). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GGTATCATACACTACCCTTCC 0.403 NA 63 276 0 0 0 0 SORBS2 8470 broad.mit.edu 37 4 186544587 186544587 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:186544587G>T uc003iyl.2 - 13 2842 c.1984C>A c.(1984-1986)CCG>ACG p.P662T SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.P762T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.P566T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.P776T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 662 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TAGGAGGCCGGGCACCTGCCT 0.413 NA 63 128 3.86e-21 5.21e-21 1 0 FRG1 2483 broad.mit.edu 37 4 190876258 190876258 + Silent SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:190876258T>C uc003izs.2 + 5 575 c.384T>C c.(382-384)CGT>CGC p.R128R NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 128 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TTGTTGGGCGTTCAGATGCAA 0.353 NA 4 217 0 0 0 0 SLC12A7 10723 broad.mit.edu 37 5 1089145 1089145 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:1089145C>T uc003jbu.2 - 4 507 c.441G>A c.(439-441)GTG>GTA p.V147V NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 147 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGACACCAGCCACCCCCACGA 0.652 NA 36 124 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13716599 13716599 + Silent SNP G G T rs113914833 TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:13716599G>T uc003jfd.2 - 74 12948 c.12906C>A c.(12904-12906)ATC>ATA p.I4302I DNAH5_uc003jfc.2_Silent_p.I470I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4302 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GACAAACCTGGATATACTGAA 0.333 NA Kartagener_syndrome 19 46 3.88e-16 5.04e-16 1 0 DNAH5 1767 broad.mit.edu 37 5 13841180 13841180 + Silent SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:13841180A>G uc003jfd.2 - 34 5586 c.5544T>C c.(5542-5544)AAT>AAC p.N1848N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1848 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CAAACTTGGCATTTCTAAGGG 0.388 NA Kartagener_syndrome 38 150 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45353210 45353210 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:45353210G>C uc003jok.2 - 5 1394 c.1369C>G c.(1369-1371)CTG>GTG p.L457V NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 457 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ACCTCTCTCAGAGGATCATTG 0.348 NA 31 90 0 0 0 0 NDUFS4 4724 broad.mit.edu 37 5 52942221 52942221 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:52942221G>A uc003jpe.2 + 3 364 c.336G>A c.(334-336)ATG>ATA p.M112I NM_002495 NP_002486 O43181 NDUS4_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 4 112 brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1) 1 Lung NSC(810;8.27e-05)|Breast(144;0.0848) NADH(DB00157) ATCCTTTGATGGGTTGGGCAT 0.353 NA 13 104 0 0 0 0 IL6ST 3572 broad.mit.edu 37 5 55250717 55250717 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:55250717C>A uc003jqq.2 - 11 1626 c.1371G>T c.(1369-1371)TGG>TGT p.W457C IL6ST_uc010iwb.2_Intron|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.W168C|IL6ST_uc003jqr.2_3'UTR NM_002184 NP_002175 P40189 IL6RB_HUMAN interleukin 6 signal transducer isoform 1 457 Extracellular (Potential).|Fibronectin type-III 4. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity large_intestine(1)|ovary(1) 2 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) ATAACACACACCACTCAAGTA 0.423 NA O hepatocellular ca 46 320 1.36e-18 1.81e-18 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65370963 65370963 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:65370963C>G uc003juk.1 + 23 4176 c.3868C>G c.(3868-3870)CTA>GTA p.L1290V ERBB2IP_uc003jui.1_Missense_Mutation_p.L1249V|ERBB2IP_uc003juj.1_Intron|ERBB2IP_uc011cqx.1_Missense_Mutation_p.L1297V|ERBB2IP_uc011cqy.1_Missense_Mutation_p.L1249V|ERBB2IP_uc011cqz.1_Missense_Mutation_p.L488V|ERBB2IP_uc010iwx.1_Missense_Mutation_p.L1293V|ERBB2IP_uc003jul.1_Missense_Mutation_p.L1245V NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 1290 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TAGAGAACAACTAATTGATTA 0.488 NA 60 184 0 0 0 0 ENC1 8507 broad.mit.edu 37 5 73931933 73931933 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:73931933C>A uc003kdc.3 - 2 1509 c.378G>T c.(376-378)ATG>ATT p.M126I ENC1_uc011css.1_Missense_Mutation_p.M53I NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 126 INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1). nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GAAACTCCAGCATGTCACCAG 0.532 NA 25 142 1.43e-11 1.77e-11 1 0 AP3B1 8546 broad.mit.edu 37 5 77521392 77521392 + Missense_Mutation SNP C C T rs149521661 TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:77521392C>T uc003kfj.2 - 6 702 c.577G>A c.(577-579)GAA>AAA p.E193K NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 193 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) AGAAGTTTTTCAATTACTTCA 0.254 NA Hermansky-Pudlak_syndrome 13 41 0 0 0 0 TTC37 9652 broad.mit.edu 37 5 94852062 94852062 + Missense_Mutation SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:94852062T>C uc003klb.2 - 25 2899 c.2629A>G c.(2629-2631)ATT>GTT p.I877V NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 877 TPR 15. Missing (found in a patient with THE syndrome). binding ovary(3)|pancreas(1) 4 TTTACCTCAATGTTTTCATTT 0.328 NA 14 80 0 0 0 0 YTHDC2 64848 broad.mit.edu 37 5 112917312 112917312 + Nonsense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:112917312G>T uc003kqn.2 + 25 3736 c.3553G>T c.(3553-3555)GAA>TAA p.E1185* NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1185 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) TATGTCTTCAGAAGAGCTTCC 0.408 NA 23 56 1.11e-09 1.35e-09 1 0 C5orf48 389320 broad.mit.edu 37 5 125971893 125971893 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:125971893G>A uc003kub.1 + 3 378 c.365G>A c.(364-366)AGC>AAC p.S122N NM_207408 NP_997291 Q6ZNM6 CE048_HUMAN hypothetical protein LOC389320 122 ovary(1) 1 AGATACCAAAGCACTGTGATT 0.403 NA 25 143 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214169 140214169 + Silent SNP G G T rs139714335 TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:140214169G>T uc003lhq.2 + 1 201 c.201G>T c.(199-201)GTG>GTT p.V67V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.V67V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 67 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGGCGGTGTGCAAATTCC 0.632 NA 50 278 3.19e-20 4.28e-20 1 0 PCDHA12 56137 broad.mit.edu 37 5 140256976 140256976 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:140256976C>T uc003lic.2 + 1 2046 c.1919C>T c.(1918-1920)GCG>GTG p.A640V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A640V NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 640 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGATGAGGCGGACGCTCCG 0.687 NA 19 54 0 0 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720647 140720647 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:140720647C>T uc003ljk.1 + 1 2294 c.2109C>T c.(2107-2109)GTC>GTT p.V703V PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.V703V|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 703 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCCTGCGTCTTCCTGGCCT 0.652 NA 60 165 0 0 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140777700 140777700 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:140777700G>A uc003lkf.1 + 1 6 c.6G>A c.(4-6)GGG>GGA p.G2G 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_uc011daw.1_Silent_p.G2G NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 2 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) GAGGGATGGGGAGCGGCGCCG 0.577 NA OREG0016860 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 13 0 0 0 0 PCDH1 5097 broad.mit.edu 37 5 141233630 141233630 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:141233630C>T uc003llp.2 - 5 3808 c.3691G>A c.(3691-3693)GCC>ACC p.A1231T NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TCGCGCTTGGCCGTCTGGGCA 0.672 NA 3 26 0 0 0 0 ZNF184 7738 broad.mit.edu 37 6 27424701 27424701 + Splice_Site SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:27424701C>T uc003njj.2 - 4 1014 c.203_splice c.e4-1 p.G68_splice ZNF184_uc010jqv.2_Splice_Site_p.G68_splice|ZNF184_uc003nji.2_Splice_Site_p.G68_splice NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACTTGGAGTCCTGTTCATTAG 0.408 NA 56 124 0 0 0 0 GPX6 257202 broad.mit.edu 37 6 28473519 28473519 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:28473519C>A uc011dlj.1 - 5 470 c.420G>T c.(418-420)GTG>GTT p.V140V GPX6_uc010jrg.1_Intron NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 140 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) TTTCTCCATTCACATCCCCTT 0.453 NA 12 80 7.04e-09 8.43e-09 1 0 CCHCR1 54535 broad.mit.edu 37 6 31110480 31110480 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:31110480G>A uc003nsr.3 - 18 2361 c.2238C>T c.(2236-2238)GTC>GTT p.V746V CCHCR1_uc011dne.1_Silent_p.V732V|CCHCR1_uc003nsq.3_Silent_p.V799V|CCHCR1_uc003nsp.3_Silent_p.V835V NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 746 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 CATCGAGCAGGACAGAGAGGG 0.537 NA 42 109 0 0 0 0 TAP2 6891 broad.mit.edu 37 6 32797314 32797314 + Splice_Site SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:32797314C>G uc003occ.2 - 10 1827 c.1796_splice c.e10-1 p.D599_splice TAP2_uc011dqf.1_Splice_Site_p.D599_splice|TAP2_uc003ocb.1_Splice_Site_p.D599_splice|TAP2_uc003ocd.2_Splice_Site_p.D599_splice NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 TCCCCTACATCTGAGGAAATC 0.557 NA 11 55 0 0 0 0 TRERF1 55809 broad.mit.edu 37 6 42231259 42231259 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:42231259C>A uc003osd.2 - 8 2246 c.1683G>T c.(1681-1683)CCG>CCT p.P561P TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Silent_p.P561P NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 561 Pro-rich.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) gaggcggaggcggcagtggtg 0.378 NA 12 36 4.27e-12 5.33e-12 1 0 ZNF318 24149 broad.mit.edu 37 6 43306786 43306786 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:43306786C>A uc003oux.2 - 10 5028 c.4950G>T c.(4948-4950)CTG>CTT p.L1650L ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1650 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTAGGGCCACCAGAGTTTTTG 0.493 NA 80 208 1.43e-34 1.96e-34 1 0 CDC5L 988 broad.mit.edu 37 6 44413419 44413419 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:44413419G>T uc003oxl.2 + 15 2378 c.2119G>T c.(2119-2121)GCC>TCC p.A707S NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 707 Interaction with PLRG1. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GACGACAGAAGCCAAGAGGGC 0.443 NA 6 53 3.6e-05 4.07e-05 1 0 RCAN2 10231 broad.mit.edu 37 6 46190997 46190997 + Missense_Mutation SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:46190997T>A uc003oyb.1 - 4 790 c.475A>T c.(475-477)AGT>TGT p.S159C RCAN2_uc003oyc.1_Missense_Mutation_p.S205C|RCAN2_uc003oyd.1_Missense_Mutation_p.S205C NM_005822 NP_005813 Q14206 RCAN2_HUMAN Down syndrome critical region gene 1-like 1 159 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding 0 ACGACGACACTTGGGGTGGAC 0.512 NA 38 216 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 57015556 57015556 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:57015556G>T uc003pdm.1 + 11 2872 c.2648G>T c.(2647-2649)CGA>CTA p.R883L ZNF451_uc003pdl.2_Missense_Mutation_p.R883L|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R883L NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GATTACCTGCGAACCATGACT 0.358 NA 58 174 2.4e-35 3.3e-35 1 0 HTR1B 3351 broad.mit.edu 37 6 78172872 78172872 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:78172872C>A uc003pil.1 - 1 249 c.249G>T c.(247-249)CCG>CCT p.P83P NM_000863 NP_000854 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B 83 Cytoplasmic (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) GGTAGTTAGCCGGGGTGTGCA 0.582 NA 48 198 1.24e-20 1.66e-20 1 0 C6orf165 154313 broad.mit.edu 37 6 88140765 88140765 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:88140765G>A uc003plv.2 + 10 1266 c.1174G>A c.(1174-1176)GTG>ATG p.V392M C6orf165_uc003plw.2_Missense_Mutation_p.V204M|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.V392M NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 392 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TAGAGTAAATGTGGCAGATTT 0.328 NA 16 49 0 0 0 0 UBE2J1 51465 broad.mit.edu 37 6 90052081 90052081 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:90052081C>G uc010kcb.2 - 4 372 c.199G>C c.(199-201)GAG>CAG p.E67Q UBE2J1_uc003pnc.2_Missense_Mutation_p.E67Q NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 67 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) ATGGGATACTCTGGTGGCAGT 0.448 NA 16 76 0 0 0 0 EPB41L2 2037 broad.mit.edu 37 6 131247798 131247798 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:131247798G>C uc003qch.2 - 4 939 c.757C>G c.(757-759)CTC>GTC p.L253V EPB41L2_uc003qcg.1_Missense_Mutation_p.L253V|EPB41L2_uc011eby.1_Missense_Mutation_p.L253V|EPB41L2_uc003qci.2_Missense_Mutation_p.L253V|EPB41L2_uc010kfk.2_Missense_Mutation_p.L253V|EPB41L2_uc010kfl.1_Missense_Mutation_p.L253V NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 253 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TTCTCCAAGAGATTGAGGTGT 0.323 NA 74 128 0 0 0 0 SHPRH 257218 broad.mit.edu 37 6 146267451 146267451 + Silent SNP C C T rs140562619 by1000genomes TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:146267451C>T uc003qlf.2 - 7 1638 c.1239G>A c.(1237-1239)CCG>CCA p.P413P SHPRH_uc003qld.2_Silent_p.P413P|SHPRH_uc003qle.2_Silent_p.P413P|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Silent_p.P302P NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 413 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAATGTGACGGAATAAAAT 0.323 NA 17 49 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152555059 152555059 + Missense_Mutation SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:152555059A>G uc010kiw.2 - 112 21171 c.20569T>C c.(20569-20571)TCA>CCA p.S6857P SYNE1_uc010kiv.2_Missense_Mutation_p.S1381P|SYNE1_uc003qos.3_Missense_Mutation_p.S1381P|SYNE1_uc003qot.3_Missense_Mutation_p.S6786P|SYNE1_uc003qou.3_Missense_Mutation_p.S6857P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6857 Spectrin 21.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGAACAGATGATTTCAGGGAA 0.438 NA HNSCC(10;0.0054) 4 86 0 0 0 0 NOX3 50508 broad.mit.edu 37 6 155728305 155728305 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:155728305G>T uc003qqm.2 - 12 1642 c.1539C>A c.(1537-1539)AAC>AAA p.N513K NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 513 Cytoplasmic (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CATTGTTCCAGTTGGGCCTCC 0.478 NA 25 134 5.45e-15 7.01e-15 1 0 MAP3K4 4216 broad.mit.edu 37 6 161519401 161519401 + Missense_Mutation SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr6:161519401A>T uc003qtn.2 + 17 3758 c.3616A>T c.(3616-3618)AGC>TGC p.S1206C MAP3K4_uc010kkc.1_Missense_Mutation_p.S1202C|MAP3K4_uc003qto.2_Intron|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.S659C|MAP3K4_uc003qtp.2_Intron|MAP3K4_uc003qtq.2_5'Flank NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1206 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CAGTCGGCCCAGCCCCTCTGG 0.498 NA 21 128 0 0 0 0 SUN3 256979 broad.mit.edu 37 7 48046766 48046766 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:48046766G>T uc003tof.2 - 6 585 c.488C>A c.(487-489)ACA>AAA p.T163K SUN3_uc010kyq.2_Missense_Mutation_p.T63K|SUN3_uc003tog.2_Missense_Mutation_p.T163K|SUN3_uc011kcf.1_Missense_Mutation_p.T151K NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 163 integral to membrane central_nervous_system(1) 1 CAGGACCTCTGTGTGGTCCGG 0.552 NA 26 75 5.46e-16 7.09e-16 1 0 SEPT14 346288 broad.mit.edu 37 7 55874869 55874869 + Silent SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:55874869G>A uc003tqz.2 - 8 1017 c.900C>T c.(898-900)ACC>ACT p.T300T NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 300 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCTGAGTGTGGGTTTTTTCTT 0.348 NA 42 126 0 0 0 0 WBSCR17 64409 broad.mit.edu 37 7 71177039 71177039 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:71177039C>A uc003tvy.2 + 11 1705 c.1705C>A c.(1705-1707)CTG>ATG p.L569M WBSCR17_uc003tvz.2_Missense_Mutation_p.L268M NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 569 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGGACGCTGCCTGGAGGTGGA 0.463 NA 55 193 1.81e-27 2.47e-27 1 0 PCLO 27445 broad.mit.edu 37 7 82579984 82579984 + Missense_Mutation SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:82579984A>G uc003uhx.2 - 6 10209 c.9920T>C c.(9919-9921)CTG>CCG p.L3307P PCLO_uc003uhv.2_Missense_Mutation_p.L3307P|PCLO_uc010lec.2_Missense_Mutation_p.L272P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3238 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTGCTCCTCCAGCTGCTGGTG 0.502 NA 40 166 0 0 0 0 C7orf51 222950 broad.mit.edu 37 7 100084710 100084710 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:100084710G>A uc003uvd.1 + 3 494 c.335G>A c.(334-336)CGA>CAA p.R112Q C7orf51_uc003uve.1_5'Flank NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 112 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCAGCACCCGAAGACCCCCT 0.701 NA 22 45 0 0 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839228 100839228 + Nonstop_Mutation SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:100839228T>A uc003uyc.2 - 7 1192 c.1025A>T c.(1024-1026)TAG>TTG p.*342L MOGAT3_uc010lhr.2_Silent_p.L274L NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 342 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) CGGCCAGGCCTAGATGAAGGT 0.577 NA 27 123 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101839913 101839913 + Splice_Site SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:101839913G>A uc003uyx.3 + 15 1261 c.1223_splice c.e15-1 p.G408_splice CUX1_uc003uys.3_Splice_Site_p.G419_splice|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CTTCCTTGTAGGGTCAGCCAG 0.552 NA 35 135 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117407111 117407111 + Splice_Site SNP A A C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:117407111A>C uc003vjf.2 - 9 2988 c.2896_splice c.e9+1 p.N966_splice NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AACATCACTCACTCAGATTCT 0.458 NA 28 108 0 0 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121699858 121699858 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:121699858C>T uc003vjy.2 + 29 7118 c.6723C>T c.(6721-6723)CAC>CAT p.H2241H PTPRZ1_uc003vjz.2_Silent_p.H1374H|PTPRZ1_uc011knt.1_Silent_p.H831H NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 2241 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CCCTTATGCACCAACTAGAAA 0.428 NA 52 148 0 0 0 0 CALD1 800 broad.mit.edu 37 7 134635184 134635184 + Silent SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:134635184A>G uc003vrz.2 + 9 2313 c.1854A>G c.(1852-1854)AAA>AAG p.K618K CALD1_uc003vry.2_Silent_p.K363K|CALD1_uc003vsa.2_Silent_p.K389K|CALD1_uc003vsb.2_Silent_p.K363K|CALD1_uc010lmm.2_Silent_p.K389K|CALD1_uc011kpt.1_Silent_p.K137K|CALD1_uc003vsc.2_Silent_p.K383K|CALD1_uc003vsd.2_Silent_p.K357K|CALD1_uc011kpu.1_Silent_p.K368K|CALD1_uc011kpv.1_Silent_p.K227K|CALD1_uc003vse.2_Silent_p.K482K NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 618 Tropomyosin-binding (Potential). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 CTGCTGAGAAACGCCAGAAGA 0.433 NA 36 68 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471453 146471453 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:146471453C>A uc003weu.1 + 2 704 c.188C>A c.(187-189)GCC>GAC p.A63D NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 63 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCCGGCTATGCCAAGATAAAC 0.368 NA HNSCC(39;0.1) 23 43 1.64e-13 2.09e-13 1 0 MLL3 58508 broad.mit.edu 37 7 151880230 151880230 + Missense_Mutation SNP T T A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr7:151880230T>A uc003wla.2 - 35 5313 c.5094A>T c.(5092-5094)AGA>AGT p.R1698S MLL3_uc003wkz.2_Missense_Mutation_p.R759S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1698 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTCTGTTATCTCTGGCTTTTT 0.323 NA N medulloblastoma 145 328 0 0 0 0 INTS10 55174 broad.mit.edu 37 8 19701638 19701638 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:19701638G>C uc003wzj.2 + 15 1902 c.1771G>C c.(1771-1773)GTG>CTG p.V591L NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 591 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) GCATGTGATTGTGTTGCTTCA 0.418 NA 28 70 0 0 0 0 MTFR1 9650 broad.mit.edu 37 8 66582207 66582207 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:66582207G>T uc003xvm.2 + 2 232 c.20G>T c.(19-21)CGC>CTC p.R7L MTFR1_uc011lep.1_Missense_Mutation_p.R7L|MTFR1_uc003xvn.2_Missense_Mutation_p.R7L|MTFR1_uc003xvo.1_5'UTR NM_014637 NP_055452 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 isoform 1 7 mitochondrion|plasma membrane pancreas(1) 1 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) TGGATTAAGCGCCTAATTAGG 0.368 NA 23 205 8.25e-16 1.07e-15 1 0 CSMD3 114788 broad.mit.edu 37 8 113237020 113237020 + Missense_Mutation SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:113237020T>C uc003ynu.2 - 71 11263 c.11104A>G c.(11104-11106)ACG>GCG p.T3702A CSMD3_uc003yns.2_Missense_Mutation_p.T2904A|CSMD3_uc003ynt.2_Missense_Mutation_p.T3662A|CSMD3_uc011lhx.1_Missense_Mutation_p.T3533A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3702 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTGCAAACCGTGTTCAAGTTG 0.423 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 134 262 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113256623 113256623 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:113256623C>T uc003ynu.2 - 65 10561 c.10402G>A c.(10402-10404)GCT>ACT p.A3468T CSMD3_uc003yns.2_Missense_Mutation_p.A2670T|CSMD3_uc003ynt.2_Missense_Mutation_p.A3428T|CSMD3_uc011lhx.1_Missense_Mutation_p.A3299T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3468 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GAAAACTTACCTTCACAAATG 0.328 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 161 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113395847 113395847 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:113395847C>A uc003ynu.2 - 37 6139 c.5980G>T c.(5980-5982)GAC>TAC p.D1994Y CSMD3_uc003yns.2_Missense_Mutation_p.D1196Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D1954Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D1890Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1994 Extracellular (Potential).|CUB 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCATAAAAGTCCAGAGAATCC 0.343 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 109 1.66e-12 2.08e-12 1 0 TMEM71 137835 broad.mit.edu 37 8 133723206 133723206 + Silent SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:133723206A>G uc003ytp.2 - 9 1063 c.834T>C c.(832-834)CAT>CAC p.H278H TMEM71_uc003ytm.1_3'UTR|TMEM71_uc003ytn.2_3'UTR|TMEM71_uc003yto.2_3'UTR NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 Error:Variant_position_missing_in_Q6P5X7_after_alignment integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCATTCCTAAATGGTTGTCAA 0.383 NA 56 165 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139144990 139144990 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:139144990G>A uc003yuy.2 - 20 4238 c.4067C>T c.(4066-4068)GCC>GTC p.A1356V FAM135B_uc003yux.2_Missense_Mutation_p.A1257V|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1356 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCAGTCCTTGGCTTCAACCAG 0.537 NA HNSCC(54;0.14) 96 513 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139153488 139153488 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:139153488C>G uc003yuy.2 - 17 3914 c.3743G>C c.(3742-3744)GGG>GCG p.G1248A FAM135B_uc003yux.2_Missense_Mutation_p.G1149A|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1248 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGGTGAGGCCCAGAGAGTGA 0.522 NA HNSCC(54;0.14) 20 108 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139165358 139165358 + Missense_Mutation SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:139165358A>T uc003yuy.2 - 13 1531 c.1360T>A c.(1360-1362)TTA>ATA p.L454I FAM135B_uc003yux.2_Missense_Mutation_p.L355I|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L16I|FAM135B_uc003yvb.2_Missense_Mutation_p.L16I NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 454 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTAAAAGATAAATTGCTATTT 0.373 NA HNSCC(54;0.14) 31 127 0 0 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777172 18777172 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:18777172C>T uc003zne.3 + 19 3072 c.2945C>T c.(2944-2946)GCG>GTG p.A982V NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 982 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GAGGTGCTTGCGGGGAGGAAG 0.672 NA 10 184 0 0 0 0 STOML2 30968 broad.mit.edu 37 9 35100719 35100719 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:35100719C>G uc003zwi.2 - 9 872 c.809G>C c.(808-810)GGA>GCA p.G270A STOML2_uc003zwh.2_Missense_Mutation_p.G161A|STOML2_uc003zwj.2_Missense_Mutation_p.G161A|STOML2_uc011lou.1_Missense_Mutation_p.G225A|STOML2_uc003zwk.2_Missense_Mutation_p.G219A NM_013442 NP_038470 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 270 cytoskeleton receptor binding 0 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGCTGCATCTCCATTCTGTGA 0.512 NA 12 207 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35717216 35717216 + Silent SNP A A T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:35717216A>T uc003zxt.2 - 19 2739 c.2385T>A c.(2383-2385)GCT>GCA p.A795A NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 795 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CATAACGGCCAGCAGGCCCAG 0.567 NA 26 44 0 0 0 0 PGM5 5239 broad.mit.edu 37 9 71002394 71002394 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:71002394C>A uc004agr.2 + 4 816 c.587C>A c.(586-588)CCA>CAA p.P196Q NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 196 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 ATAGTGGACCCAGTGGATATC 0.413 NA 89 177 8.98e-41 1.24e-40 1 0 VPS13A 23230 broad.mit.edu 37 9 79959184 79959184 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:79959184G>T uc004akr.2 + 51 7402 c.7142G>T c.(7141-7143)CGT>CTT p.R2381L VPS13A_uc004akp.3_Missense_Mutation_p.R2381L|VPS13A_uc004akq.3_Missense_Mutation_p.R2381L|VPS13A_uc004aks.2_Missense_Mutation_p.R2342L NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2381 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ATTCTATTGCGTCTAGATAAC 0.299 NA 72 89 9.99e-38 1.37e-37 1 0 KIAA1529 57653 broad.mit.edu 37 9 100116995 100116995 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:100116995G>C uc011lut.1 + 35 4469 c.3696G>C c.(3694-3696)CAG>CAC p.Q1232H KIAA1529_uc004axe.1_Missense_Mutation_p.Q1064H|KIAA1529_uc004axg.1_Missense_Mutation_p.Q1093H|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.Q249H NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) ACCTGGACCAGGTAGGGCCCC 0.567 NA 67 89 0 0 0 0 KLF4 9314 broad.mit.edu 37 9 110250031 110250031 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:110250031G>A uc004bdh.2 - 3 1238 c.617C>T c.(616-618)CCG>CTG p.P206L KLF4_uc004bdf.1_Missense_Mutation_p.P165L|KLF4_uc004bdg.2_Missense_Mutation_p.P215L NM_004235 NP_004226 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 215 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(2)|lung(1) 3 CGGCTGCTGCGGCGGAATGTA 0.687 NA 6 5 0 0 0 0 ZNF483 158399 broad.mit.edu 37 9 114289921 114289921 + Silent SNP A A G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:114289921A>G uc004bff.2 + 2 470 c.246A>G c.(244-246)AGA>AGG p.R82R ZNF483_uc011lwq.1_Silent_p.R82R|ZNF483_uc004bfg.2_Silent_p.R82R|ZNF483_uc010mud.1_Silent_p.R82R NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 82 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 AGTGGCTGAGACCAGACATTC 0.468 NA 63 76 0 0 0 0 URM1 81605 broad.mit.edu 37 9 131140339 131140339 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:131140339C>T uc004buv.2 + 2 122 c.60C>T c.(58-60)GAC>GAT p.D20D URM1_uc011may.1_Silent_p.D20D|URM1_uc004buw.2_RNA NM_030914 NP_112176 Q9BTM9 URM1_HUMAN ubiquitin related modifier 1 homolog isoform a 20 tRNA thio-modification|tRNA wobble uridine modification protein binding 0 TCCTGTTTGACGGTATTAAGA 0.507 NA 17 148 0 0 0 0 GPR143 4935 broad.mit.edu 37 X 9728793 9728793 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chrX:9728793C>T uc004cst.1 - 2 384 c.384G>A c.(382-384)ACG>ACA p.T128T NM_000273 NP_000264 P51810 GP143_HUMAN G protein-coupled receptor 143 108 Extracellular (Potential). calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding ovary(1) 1 Hepatocellular(5;0.000888) GCCAAATTTCCGTGTGGTTCA 0.448 NA 5 4 0 0 0 0 FAM46D 169966 broad.mit.edu 37 X 79698219 79698219 + Missense_Mutation SNP G G C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chrX:79698219G>C uc004edl.1 + 5 515 c.181G>C c.(181-183)GCC>CCC p.A61P FAM46D_uc004edm.1_Missense_Mutation_p.A61P NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 61 lung(2) 2 TGTTAAAGATGCCAGATTGAA 0.398 NA 52 44 0 0 0 0 ZNF75D 7626 broad.mit.edu 37 X 134428026 134428026 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chrX:134428026G>T uc004eyp.2 - 3 2696 c.41C>A c.(40-42)CCC>CAC p.P14H ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.P14H NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 14 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCCCATCTGGGGGCTTGAGCA 0.483 NA 114 143 8.09e-62 1.12e-61 1 0 RBMXL1 494115 broad.mit.edu 37 1 89448494 89448495 + In_Frame_Ins INS - - CAC TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr1:89448494_89448495insCAC uc009wcx.2 - 3 1731_1732 c.1015_1016insGTG c.(1015-1017)GAC>GGTGAC p.338_339insG CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_In_Frame_Ins_p.338_339insG NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 338_339 Ser-rich. nucleotide binding|RNA binding 0 GCCAACCCTGTCACAACTTGAG 0.505 NA 12 417 --- --- --- --- NA NA NA NA TMEM86A 144110 broad.mit.edu 37 11 18723384 18723386 + In_Frame_Del DEL TCT TCT - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr11:18723384_18723386delTCT uc001moz.1 + 3 634_636 c.551_553delTCT c.(550-555)CTCTTC>CTC p.F186del NM_153347 NP_699178 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 186 Helical; (Potential). integral to membrane ovary(1) 1 AGTGGTGCACTCTTCTTTATCAT 0.586 NA 32 69 --- --- --- --- NA NA NA NA ADCY4 196883 broad.mit.edu 37 14 24794669 24794670 + Frame_Shift_Del DEL AG AG - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr14:24794669_24794670delAG uc001wov.2 - 14 1742_1743 c.1736_1737delCT c.(1735-1737)TCTfs p.S579fs ADCY4_uc001wow.2_Frame_Shift_Del_p.S579fs|ADCY4_uc010toh.1_Frame_Shift_Del_p.S265fs|ADCY4_uc001wox.2_Frame_Shift_Del_p.S579fs|ADCY4_uc001woy.2_Frame_Shift_Del_p.S579fs NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 579 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) CGGGGATTGCAGAGAGTCGGTA 0.54 NA 24 62 --- --- --- --- NA NA NA NA GEMIN4 50628 broad.mit.edu 37 17 650275 650279 + Frame_Shift_Del DEL GCGGA GCGGA - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:650275_650279delGCGGA uc002frs.1 - 2 1123_1127 c.1004_1008delTCCGC c.(1003-1008)CTCCGCfs p.L335fs GEMIN4_uc010vqa.1_3'UTR NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 335_336 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CCTGGCTGCTGCGGAGCACGGCCTG 0.629 NA 7 164 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577092 7577092 + Frame_Shift_Del DEL C C - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr17:7577092delC uc002gim.2 - 8 1040 c.846delG c.(844-846)CGGfs p.R282fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(365)|p.R282G(26)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.R283fs*63(2)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTCTGTGCGCCGGTCTCTCC 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 57 64 --- --- --- --- NA NA NA NA MYO7B 4648 broad.mit.edu 37 2 128331588 128331589 + Frame_Shift_Del DEL GC GC - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:128331588_128331589delGC uc002top.2 + 7 739_740 c.686_687delGC c.(685-687)GGCfs p.G229fs NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 229 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GTGATCGAGGGCGCGCGCATCG 0.584 NA 22 213 --- --- --- --- NA NA NA NA NCKAP5 344148 broad.mit.edu 37 2 133542068 133542068 + Frame_Shift_Del DEL C C - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr2:133542068delC uc002ttp.2 - 14 2690 c.2316delG c.(2314-2316)AAGfs p.K772fs NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 772 protein binding 0 GTTTGACCAGCTTTTGCTGCT 0.423 NA 37 126 --- --- --- --- NA NA NA NA KDR 3791 broad.mit.edu 37 4 55976627 55976627 + Frame_Shift_Del DEL G G - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:55976627delG uc003has.2 - 9 1500 c.1198delC c.(1198-1200)CTTfs p.L400fs KDR_uc003hat.1_Frame_Shift_Del_p.L400fs|KDR_uc011bzx.1_Frame_Shift_Del_p.L400fs NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 400 Ig-like C2-type 4.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GGATTGGTAAGGATGACAGTG 0.423 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 38 125 --- --- --- --- NA NA NA NA SMARCAD1 56916 broad.mit.edu 37 4 95200121 95200121 + Frame_Shift_Del DEL A A - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr4:95200121delA uc003htc.3 + 19 2593 c.2338delA c.(2338-2340)AAAfs p.K780fs SMARCAD1_uc003htb.3_Frame_Shift_Del_p.K782fs|SMARCAD1_uc003htd.3_Frame_Shift_Del_p.K782fs|SMARCAD1_uc010ila.2_Frame_Shift_Del_p.K645fs|SMARCAD1_uc011cdw.1_Frame_Shift_Del_p.K350fs NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 780 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) GCAGTTGAGGAAAATGGCCAA 0.338 NA 14 60 --- --- --- --- NA NA NA NA KCNN2 3781 broad.mit.edu 37 5 113829151 113829151 + Frame_Shift_Del DEL T T - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr5:113829151delT uc003kqo.2 + 7 1891 c.1434delT c.(1432-1434)ACTfs p.T478fs KCNN2_uc003kqp.2_Frame_Shift_Del_p.T130fs|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 478 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AAGCAAACACTTTGGTGGACT 0.403 NA 21 64 --- --- --- --- NA NA NA NA DLC1 10395 broad.mit.edu 37 8 12955928 12955930 + In_Frame_Del DEL AGA AGA - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:12955928_12955930delAGA uc003wwm.2 - 10 3589_3591 c.3145_3147delTCT c.(3145-3147)TCTdel p.S1049del DLC1_uc003wwk.1_In_Frame_Del_p.S612del|DLC1_uc003wwl.1_In_Frame_Del_p.S646del|DLC1_uc011kxx.1_In_Frame_Del_p.S538del NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1049 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CATGCTTGTTAGAAGGTGTGTAT 0.424 NA 51 159 --- --- --- --- NA NA NA NA ST18 9705 broad.mit.edu 37 8 53071483 53071483 + Frame_Shift_Del DEL T T - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:53071483delT uc003xqz.2 - 10 1937 c.1781delA c.(1780-1782)AACfs p.N594fs ST18_uc011ldq.1_Frame_Shift_Del_p.N241fs|ST18_uc011ldr.1_Frame_Shift_Del_p.N559fs|ST18_uc011lds.1_Frame_Shift_Del_p.N499fs|ST18_uc003xra.2_Frame_Shift_Del_p.N594fs|ST18_uc003xrb.2_Frame_Shift_Del_p.N594fs NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 594 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) CTGTGGCTTGTTGGAGAGGAT 0.542 NA 27 340 --- --- --- --- NA NA NA NA JPH1 56704 broad.mit.edu 37 8 75233214 75233214 + Frame_Shift_Del DEL G G - rs79761162 byFrequency TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr8:75233214delG uc003yae.2 - 1 349 c.309delC c.(307-309)CCCfs p.P103fs JPH1_uc003yaf.2_Frame_Shift_Del_p.P103fs|JPH1_uc003yag.1_Intron NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 103 Gly-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CGTAGCGAGCGGGGGTGCACA 0.677 NA 43 78 --- --- --- --- NA NA NA NA NOTCH1 4851 broad.mit.edu 37 9 139395007 139395008 + Frame_Shift_Ins INS - - A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203f8426-6ec5-427a-9ccf-ec2b4683504d 2fb4cc0c-5da0-49a7-b686-7277b4e56622 g.chr9:139395007_139395008insA uc004chz.2 - 31 5930_5931 c.5930_5931insT c.(5929-5931)TTCfs p.F1977fs NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1977 ANK 2.|Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGCCTACCTGGAAGACACCTTG 0.683 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 67 65 --- --- --- --- NA NA NA NA