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 TNFRSF25 8718 broad.mit.edu 37 1 6524760 6524760 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:6524760C>G uc001ane.2 - 4 403 c.315G>C c.(313-315)GAG>GAC p.E105D TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.E105D|TNFRSF25_uc001ang.2_Missense_Mutation_p.E60D|TNFRSF25_uc001anh.2_Missense_Mutation_p.E105D|TNFRSF25_uc001ani.1_Missense_Mutation_p.E105D NM_003790 NP_003781 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, 105 TNFR-Cys 2.|Extracellular (Potential). apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity central_nervous_system(2)|breast(1) 3 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CTGAACAGTTCTCCAGCGCCA 0.607 NA 17 24 0 0 0 0 BAI2 576 broad.mit.edu 37 1 32207757 32207757 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:32207757C>T uc001btn.2 - 8 1668 c.1314G>A c.(1312-1314)GGG>GGA p.G438G BAI2_uc010ogo.1_Silent_p.G80G|BAI2_uc010ogp.1_Silent_p.G371G|BAI2_uc010ogq.1_Silent_p.G438G|BAI2_uc001bto.2_Silent_p.G438G|BAI2_uc001btq.1_Silent_p.G371G|BAI2_uc010ogr.1_Silent_p.G371G NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 438 TSP type-1 3.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GCTGTTGGGTCCCATTGGCAC 0.662 NA 18 30 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66070790 66070790 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:66070790G>C uc001dci.2 + 11 1675 c.1473G>C c.(1471-1473)CAG>CAC p.Q491H LEPR_uc001dcg.2_Missense_Mutation_p.Q491H|LEPR_uc001dch.2_Missense_Mutation_p.Q491H|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.Q491H|LEPR_uc001dck.2_Missense_Mutation_p.Q491H NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 491 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCTATTTGCAGAGTGATGGTT 0.368 NA 25 61 0 0 0 0 UBL4B 164153 broad.mit.edu 37 1 110655410 110655410 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:110655410C>T uc001dzc.2 + 1 349 c.254C>T c.(253-255)CCG>CTG p.P85L NM_203412 NP_981957 Q8N7F7 UBL4B_HUMAN ubiquitin-like 4B 85 cytoplasm ovary(1) 1 all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134) GCCCACCAGCCGCAGACCCAG 0.577 NA 14 36 0 0 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151204248 151204248 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:151204248C>G uc001exj.2 + 5 791 c.339C>G c.(337-339)TTC>TTG p.F113L PIP5K1A_uc001exi.2_Missense_Mutation_p.F100L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.F101L|PIP5K1A_uc001exk.2_Missense_Mutation_p.F100L|PIP5K1A_uc010pcv.1_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 113 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TGCAAGATTTCTACGTGGTTG 0.483 NA 27 54 0 0 0 0 CELF3 11189 broad.mit.edu 37 1 151688428 151688428 + Silent SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:151688428C>G uc001eys.1 - 1 863 c.69G>C c.(67-69)CTG>CTC p.L23L CELF3_uc001eyr.2_Silent_p.L23L|CELF3_uc009wmy.2_Silent_p.L23L|CELF3_uc009wmx.1_Silent_p.L23L|CELF3_uc001eyt.2_5'UTR|CELF3_uc010pdi.1_Silent_p.L23L|C1orf230_uc001eyu.2_Intron NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 23 RRM 1. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 AGATGGGCTTCAGGTCCTTCT 0.597 NA 4 28 0 0 0 0 OR6K2 81448 broad.mit.edu 37 1 158669812 158669812 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:158669812C>T uc001fsu.1 - 1 631 c.631G>A c.(631-633)GCT>ACT p.A211T NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AGCATCACAGCTGTAATAATC 0.502 NA 19 42 0 0 0 0 CADM3 57863 broad.mit.edu 37 1 159162470 159162470 + Nonsense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:159162470C>G uc001ftl.2 + 3 474 c.332C>G c.(331-333)TCA>TGA p.S111* CADM3_uc009wsx.1_Nonsense_Mutation_p.S145*|CADM3_uc009wsy.1_Nonsense_Mutation_p.S111*|CADM3_uc001ftk.2_Nonsense_Mutation_p.S145* NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 111 Ig-like V-type.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) TACACCTGCTCAATCTTCACT 0.537 NA 26 45 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 185815164 185815164 + Missense_Mutation SNP G G T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:185815164G>T uc001grq.1 + 2 504 c.275G>T c.(274-276)GGC>GTC p.G92V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 92 VWFA. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACAGAAATTGGCCCAGTGACA 0.368 NA 7 35 1.13e-05 1.21e-05 1 0 OPTC 26254 broad.mit.edu 37 1 203467831 203467831 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:203467831C>T uc001gzu.1 + 4 509 c.393C>T c.(391-393)TGC>TGT p.C131C NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 131 LRRNT.|Cys-rich. proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) GCCTGGTCTGCGTGTGCCTCG 0.582 NA 3 51 0 0 0 0 IRF6 3664 broad.mit.edu 37 1 209969813 209969813 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:209969813G>A uc001hhq.1 - 4 522 c.259C>T c.(259-261)CTC>TTC p.L87F IRF6_uc010psm.1_5'UTR|IRF6_uc009xct.1_Missense_Mutation_p.L87F NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 87 IRF tryptophan pentad repeat. cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CTCTTATTGAGAGCACAGCGC 0.527 NA HNSCC(57;0.16) 18 35 0 0 0 0 MRPL55 128308 broad.mit.edu 37 1 228295553 228295553 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:228295553G>A uc001hry.2 - 2 788 c.44C>T c.(43-45)ACC>ATC p.T15I MRPL55_uc001hrz.3_Missense_Mutation_p.T51I|MRPL55_uc009xex.2_Missense_Mutation_p.T15I|MRPL55_uc001hsa.3_Missense_Mutation_p.T15I|MRPL55_uc001hsb.3_Missense_Mutation_p.T15I|MRPL55_uc001hsc.3_Missense_Mutation_p.T15I|MRPL55_uc001hsd.3_Missense_Mutation_p.T15I|MRPL55_uc001hse.3_Missense_Mutation_p.T15I|MRPL55_uc001hsf.3_Missense_Mutation_p.T15I|MRPL55_uc001hsg.3_Missense_Mutation_p.T15I NM_181465 NP_852130 Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 isoform a 15 translation mitochondrial large ribosomal subunit structural constituent of ribosome central_nervous_system(1) 1 Prostate(94;0.0405) GGCCTTCACGGTGCTCTGCCT 0.617 NA 9 26 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235973499 235973499 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:235973499G>A uc001hxj.2 - 5 794 c.619C>T c.(619-621)CGC>TGC p.R207C LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R207C NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 207 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GTTGCTAAGCGGTCAAGTTTA 0.413 NA Chediak-Higashi_syndrome 5 135 0 0 0 0 OR2T33 391195 broad.mit.edu 37 1 248436971 248436971 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:248436971C>A uc010pzi.1 - 1 146 c.146G>T c.(145-147)TGG>TTG p.W49L NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCGGTGGTCCCAGTGAATCAG 0.522 NA 18 49 1.31e-17 1.5e-17 1 0 ITIH5 80760 broad.mit.edu 37 10 7618752 7618752 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:7618752G>A uc001ijq.2 - 10 1721 c.1642C>T c.(1642-1644)CGG>TGG p.R548W ITIH5_uc001ijp.2_Missense_Mutation_p.R334W|ITIH5_uc001ijr.1_Missense_Mutation_p.R548W NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 548 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TTCTGAGGCCGCACAGGCACA 0.587 NA 3 29 0 0 0 0 KIAA1217 56243 broad.mit.edu 37 10 24834871 24834871 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:24834871C>T uc001iru.3 + 21 5853 c.5450C>T c.(5449-5451)TCT>TTT p.S1817F KIAA1217_uc001irs.2_Missense_Mutation_p.S1138F|KIAA1217_uc001irt.3_Missense_Mutation_p.S1183F|KIAA1217_uc010qcy.1_Missense_Mutation_p.S1248F|KIAA1217_uc010qcz.1_Missense_Mutation_p.S1223F|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1817 Ser-rich. embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 TCTCTGCCCTCTTCTAGTGGT 0.512 NA 43 91 0 0 0 0 ARID5B 84159 broad.mit.edu 37 10 63759861 63759861 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:63759861G>A uc001jlt.1 + 4 540 c.514G>A c.(514-516)GAA>AAA p.E172K ARID5B_uc010qil.1_Missense_Mutation_p.E172K NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 172 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) GGAGGACGAGGAAGAAACGAA 0.473 NA 8 22 0 0 0 0 ANKRD1 27063 broad.mit.edu 37 10 92678707 92678707 + Missense_Mutation SNP G G A rs145387010 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:92678707G>A uc001khe.1 - 4 616 c.368C>T c.(367-369)ACG>ATG p.T123M NM_014391 NP_055206 Q15327 ANKR1_HUMAN cardiac ankyrin repeat protein 123 cellular lipid metabolic process|defense response|signal transduction DNA binding 0 Colorectal(252;0.0475) CTTCAGAAACGTAGGCACATC 0.368 NA 8 35 0 0 0 0 MGEA5 10724 broad.mit.edu 37 10 103569963 103569963 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:103569963G>A uc001ktv.2 - 4 901 c.458C>T c.(457-459)ACA>ATA p.T153I MGEA5_uc010qqe.1_Missense_Mutation_p.T153I|MGEA5_uc009xws.2_Missense_Mutation_p.T153I|MGEA5_uc001ktw.2_Missense_Mutation_p.T153I|MGEA5_uc009xwt.2_Intron|MGEA5_uc010qqf.1_RNA NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 153 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) ACGTTTCAATGTGGATACTTC 0.373 NA 5 63 0 0 0 0 TRIM8 81603 broad.mit.edu 37 10 104416918 104416918 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:104416918C>T uc001kvz.2 + 6 1586 c.1463C>T c.(1462-1464)CCC>CTC p.P488L NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 488 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAGCCCTACCCCCGCTCCGGC 0.657 NA 10 26 0 0 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:534285C>A uc001lpv.2 - 2 226 c.38G>T c.(37-39)GGT>GTT p.G13V HRAS_uc010qvw.1_Missense_Mutation_p.G13V|HRAS_uc010qvx.1_Missense_Mutation_p.G13V|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 13 GTP. G -> D (in FCSS).|G -> C (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(33)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 10 14 4.69e-08 5.19e-08 1 0 MUC2 4583 broad.mit.edu 37 11 1093601 1093601 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:1093601G>A uc001lsx.1 + 31 12533 c.12506G>A c.(12505-12507)GGC>GAC p.G4169D NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4169 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACACCCACCGGCACACAGACC 0.408 NA 3 23 0 0 0 0 OR51I1 390063 broad.mit.edu 37 11 5462199 5462199 + Silent SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:5462199G>C uc010qze.1 - 1 546 c.546C>G c.(544-546)CTC>CTG p.L182L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCTGGATGGAGACAGTAGG 0.433 NA 14 22 0 0 0 0 OR6A2 8590 broad.mit.edu 37 11 6816910 6816910 + Silent SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:6816910C>G uc001mes.1 - 1 230 c.30G>C c.(28-30)GTG>GTC p.V10V NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAAACTCACTCACTCTCCCAC 0.512 NA 13 41 0 0 0 0 OR10A2 341276 broad.mit.edu 37 11 6891679 6891679 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:6891679C>T uc001meu.1 + 1 694 c.694C>T c.(694-696)CTC>TTC p.L232F NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 232 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TTCCTCACACCTCCTTGTTGT 0.423 NA 109 46 0 0 0 0 ZNF215 7762 broad.mit.edu 37 11 6977464 6977464 + Missense_Mutation SNP G G A rs139686178 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:6977464G>A uc001mey.2 + 7 1844 c.1256G>A c.(1255-1257)CGT>CAT p.R419H ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.R181H|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 419 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TTCAACCGACGTACAAACCTT 0.408 NA 20 30 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17428294 17428294 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:17428294C>T uc001mnc.2 - 26 3330 c.3204G>A c.(3202-3204)ACG>ACA p.T1068T NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1068 ABC transmembrane type-1 2.|Extracellular (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGCAGAGCACCGTGAACACCA 0.602 NA 28 18 0 0 0 0 CHST1 8534 broad.mit.edu 37 11 45671567 45671567 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:45671567C>T uc001mys.1 - 4 1578 c.907G>A c.(907-909)GAG>AAG p.E303K NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 303 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCCAGGTCCTCGTAGCGCACC 0.627 NA 35 23 0 0 0 0 OR5T1 390155 broad.mit.edu 37 11 56043262 56043262 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:56043262A>G uc001nio.1 + 1 148 c.148A>G c.(148-150)ACT>GCT p.T50A NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 50 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) CTATCTATTCACTCTAATAGG 0.338 NA 19 49 0 0 0 0 PC 5091 broad.mit.edu 37 11 66618354 66618354 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:66618354A>G uc001ojn.1 - 16 2313 c.2264T>C c.(2263-2265)CTG>CCG p.L755P PC_uc001ojo.1_Missense_Mutation_p.L755P|PC_uc001ojp.1_Missense_Mutation_p.L755P|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 755 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GGAGCTGACCAGCATGGTGCA 0.662 NA 7 13 0 0 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934865 113934865 + Silent SNP G G T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:113934865G>T uc001pop.2 + 2 1107 c.843G>T c.(841-843)GGG>GGT p.G281G ZBTB16_uc001poo.1_Silent_p.G281G|ZBTB16_uc001poq.2_Silent_p.G281G NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 281 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AGGGGCCTGGGACCCCGACTC 0.647 NA 7 21 0.000274275 0.000290243 1 0 KRT78 196374 broad.mit.edu 37 12 53238435 53238435 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr12:53238435C>G uc001sbc.1 - 5 893 c.829G>C c.(829-831)GAC>CAC p.D277H NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 277 Linker 12.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 CTGCTGAAGTCCAGGTAGCGG 0.627 NA 23 39 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112602002 112602002 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr12:112602002G>A uc009zwc.2 - 66 11364 c.11346C>T c.(11344-11346)AGC>AGT p.S3782S NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GCTTGTTGGGGCTGTCAGGGC 0.652 NA 16 33 0 0 0 0 FBXO21 23014 broad.mit.edu 37 12 117595803 117595803 + Silent SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr12:117595803C>A uc001twk.2 - 10 1452 c.1413G>T c.(1411-1413)CTG>CTT p.L471L FBXO21_uc001twj.2_Silent_p.L464L|FBXO21_uc009zwq.2_Silent_p.L404L|FBXO21_uc001twl.1_Silent_p.L84L NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 471 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TGTGCTGCACCAGGTAGCCCA 0.532 NA 61 166 1.08e-31 1.24e-31 1 0 ATP12A 479 broad.mit.edu 37 13 25266965 25266965 + Silent SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr13:25266965A>G uc001upp.2 + 10 1495 c.1308A>G c.(1306-1308)TTA>TTG p.L436L ATP12A_uc010aaa.2_Silent_p.L442L NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 436 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGGCCTCCTTATCCAAGATAA 0.483 NA 57 147 0 0 0 0 MTUS2 23281 broad.mit.edu 37 13 29855999 29855999 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr13:29855999G>A uc001usl.3 + 4 2891 c.2833G>A c.(2833-2835)GCT>ACT p.A945T NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 935 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TTCCACACCCGCTGGTAAGAC 0.542 NA 16 43 0 0 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453669 84453669 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr13:84453669C>T uc001vlk.2 - 1 2860 c.1974G>A c.(1972-1974)GCG>GCA p.A658A NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 658 Cytoplasmic (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TAATCTCGGACGCGGAGGAGT 0.552 NA 9 20 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329806 88329806 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr13:88329806C>T uc001vln.2 + 2 2382 c.2163C>T c.(2161-2163)GGC>GGT p.G721G SLITRK5_uc010tic.1_Silent_p.G480G NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 721 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCGGCGGCGGCGGCACGGGCG 0.652 NA 16 33 0 0 0 0 NAA30 122830 broad.mit.edu 37 14 57857726 57857726 + Silent SNP T T G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr14:57857726T>G uc001xcx.3 + 2 205 c.51T>G c.(49-51)CCT>CCG p.P17P NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN N-acetyltransferase 12 17 Pro-rich. cytoplasm peptide alpha-N-acetyltransferase activity skin(1) 1 CACCAGCACCTCCGGCCCCGG 0.721 NA 4 10 0 0 0 0 CPSF2 53981 broad.mit.edu 37 14 92628079 92628079 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr14:92628079C>T uc001yah.1 + 16 2577 c.2340C>T c.(2338-2340)GCC>GCT p.A780A NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 780 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) AACAATATGCCATTGTATAAA 0.338 NA 4 18 0 0 0 0 CGNL1 84952 broad.mit.edu 37 15 57731561 57731561 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:57731561C>T uc002aeg.2 + 2 1440 c.1364C>T c.(1363-1365)TCA>TTA p.S455L CGNL1_uc010bfw.2_Missense_Mutation_p.S455L NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 455 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CACGGGGCTTCATGTGCCCAC 0.622 NA 13 23 0 0 0 0 KIAA0101 9768 broad.mit.edu 37 15 64669065 64669065 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:64669065C>T uc002ank.2 - 3 299 c.167G>A c.(166-168)CGC>CAC p.R56H KIAA0101_uc002anl.2_Intron NM_014736 NP_055551 Q15004 PAF_HUMAN hypothetical protein LOC9768 isoform 1 56 mitochondrion|nucleus central_nervous_system(1) 1 GGGAGTTGGGCGCACGCAAAC 0.393 NA 13 28 0 0 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181917 81181917 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:81181917G>A uc002bfw.1 + 9 1330 c.1070G>A c.(1069-1071)CGT>CAT p.R357H KIAA1199_uc010unn.1_Missense_Mutation_p.R357H NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 357 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 ATATGCAATCGTCCCATTGAT 0.348 NA 13 41 0 0 0 0 IFT140 9742 broad.mit.edu 37 16 1657244 1657244 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:1657244C>A uc002cmb.2 - 3 386 c.24G>T c.(22-24)CAG>CAT p.Q8H NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 8 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) GGGCTTCTATCTGGTGGTCAT 0.488 NA 19 72 1.16e-05 1.24e-05 1 0 NUBP2 10101 broad.mit.edu 37 16 1836869 1836869 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:1836869C>T uc002cmw.3 + 3 336 c.247C>T c.(247-249)CGG>TGG p.R83W NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Missense_Mutation_p.R23W NM_012225 NP_036357 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 (MinD homolog, E. 83 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding 0 CTTCCTGGACCGGGAGCAGAG 0.677 NA 8 29 0 0 0 0 GPT2 84706 broad.mit.edu 37 16 46934667 46934667 + Missense_Mutation SNP G G T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:46934667G>T uc002eel.2 + 4 501 c.407G>T c.(406-408)CGG>CTG p.R136L GPT2_uc002eem.2_Missense_Mutation_p.R36L NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 136 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AAACGTGCCCGGCGGATCCTG 0.617 NA 11 25 2.81e-09 3.14e-09 1 0 SALL1 6299 broad.mit.edu 37 16 51175913 51175913 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:51175913C>T uc010vgs.1 - 2 251 c.220G>A c.(220-222)GTA>ATA p.V74I SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 74 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTTTCATTTACGATTAAAACT 0.448 NA 27 57 0 0 0 0 ZNF319 57567 broad.mit.edu 37 16 58031659 58031659 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:58031659C>T uc002emx.1 - 2 1134 c.511G>A c.(511-513)GAG>AAG p.E171K NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCGCTGCCTCAGCTGGCTTG 0.622 NA 46 88 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65006889 65006889 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:65006889C>T uc002eoi.2 - 9 1742 c.1308G>A c.(1306-1308)GAG>GAA p.E436E CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.E436E|CDH11_uc010vin.1_Silent_p.E310E NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 436 Cadherin 4.|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) TAAAACCATCCTCTGGATTAA 0.413 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 44 0 0 0 0 OR1D2 4991 broad.mit.edu 37 17 2995717 2995717 + Missense_Mutation SNP T T C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:2995717T>C uc010vrb.1 - 1 574 c.574A>G c.(574-576)ATT>GTT p.I192V NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 192 Extracellular (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 TTAATCTGAATGTTGGAACAT 0.448 NA 14 39 0 0 0 0 SPNS3 201305 broad.mit.edu 37 17 4351571 4351571 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:4351571G>A uc002fxt.2 + 6 787 c.743G>A c.(742-744)TGT>TAT p.C248Y SPNS3_uc002fxu.2_Missense_Mutation_p.C121Y NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 248 lipid transport|transmembrane transport integral to membrane large_intestine(1) 1 AGCAGCTGGTGTGAGGACGTC 0.612 NA 13 13 0 0 0 0 KRT14 3861 broad.mit.edu 37 17 39739633 39739633 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:39739633C>T uc002hxf.1 - 6 1189 c.1128G>A c.(1126-1128)ATG>ATA p.M376I JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Intron NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 376 Rod.|Coil 2. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) CGCTGCCAATCATCTCCTGGA 0.597 NA 12 27 0 0 0 0 BAIAP2 10458 broad.mit.edu 37 17 79073793 79073793 + Silent SNP C C T rs146015006 byFrequency TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:79073793C>T uc002jzg.2 + 7 663 c.555C>T c.(553-555)ACC>ACT p.T185T BAIAP2_uc002jyz.3_Silent_p.T185T|BAIAP2_uc002jza.2_Silent_p.T185T|BAIAP2_uc002jzc.2_Silent_p.T185T|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Silent_p.T185T|BAIAP2_uc002jzf.2_Silent_p.T185T|BAIAP2_uc002jze.2_Silent_p.T218T|BAIAP2_uc010wuh.1_Silent_p.T107T|BAIAP2_uc002jzh.2_Silent_p.T186T|BAIAP2_uc010wui.1_Silent_p.T48T NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 185 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCTACAAGACCGCACTGACAG 0.617 NA 3 39 0 0 0 0 ZNF532 55205 broad.mit.edu 37 18 56620896 56620896 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr18:56620896G>A uc002lho.2 + 8 3562 c.3015G>A c.(3013-3015)AAG>AAA p.K1005K ZNF532_uc002lhp.2_Silent_p.K1003K|ZNF532_uc010xeg.1_Silent_p.K1003K|ZNF532_uc002lhr.2_Silent_p.K1003K|ZNF532_uc002lhs.2_Silent_p.K1003K|ZNF532_uc010xeh.1_Silent_p.K97K NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1005 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 AATTGGAAAAGAAATCTCCAT 0.428 NA 24 49 0 0 0 0 ODF3L2 284451 broad.mit.edu 37 19 463990 463990 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:463990C>T uc002lor.2 - 4 960 c.724G>A c.(724-726)GCC>ACC p.A242T SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Missense_Mutation_p.A206T NM_182577 NP_872383 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 242 DUF1309 3.|Pro-rich. 0 GGGCAGTGGGCGCCAGGGCCG 0.607 NA 4 13 0 0 0 0 OR1M1 125963 broad.mit.edu 37 19 9204511 9204511 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:9204511C>T uc010xkj.1 + 1 591 c.591C>T c.(589-591)ATC>ATT p.I197I NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 197 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 TGAATAGGATCTTCATCCTCA 0.567 NA 19 57 0 0 0 0 ILVBL 10994 broad.mit.edu 37 19 15230101 15230101 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:15230101C>G uc002nam.2 - 9 1048 c.927G>C c.(925-927)GAG>GAC p.E309D ILVBL_uc010xof.1_5'Flank|ILVBL_uc010dzw.2_Missense_Mutation_p.E202D NM_006844 NP_006835 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 309 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity ovary(2) 2 CACCCAAGGTCTCCACGGCAG 0.672 NA 10 36 0 0 0 0 ZNF382 84911 broad.mit.edu 37 19 37118156 37118156 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:37118156C>T uc002oek.2 + 5 1470 c.1357C>T c.(1357-1359)CTC>TTC p.L453F ZNF382_uc010efa.2_Missense_Mutation_p.L404F|ZNF382_uc010efb.2_Missense_Mutation_p.L452F|ZNF382_uc002oel.2_Missense_Mutation_p.L452F NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 453 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AACCCTCACTCTCCACCAGAG 0.453 NA 9 35 0 0 0 0 AXL 558 broad.mit.edu 37 19 41726662 41726662 + Nonsense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:41726662G>A uc010ehj.2 + 2 397 c.207G>A c.(205-207)TGG>TGA p.W69* CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Nonsense_Mutation_p.W69*|AXL_uc010ehk.2_Nonsense_Mutation_p.W69* NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 69 Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 AGGTACATTGGCTTCGGGATG 0.627 NA 12 28 0 0 0 0 DMRTC2 63946 broad.mit.edu 37 19 42351824 42351824 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:42351824C>T uc002ors.2 + 3 328 c.245C>T c.(244-246)GCT>GTT p.A82V DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.A82V NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 82 DM. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 AGGGTCATGGCTGCCCAGGTG 0.592 NA 5 4 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47575163 47575163 + Missense_Mutation SNP G G T rs149041592 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:47575163G>T uc002pga.3 - 13 2056 c.2018C>A c.(2017-2019)CCC>CAC p.P673H ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 673 Pro-rich. nucleic acid binding|zinc ion binding p.P673L(1) skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AGGGCCGTAGGGCATCATTGG 0.493 NA 6 16 0.00116845 0.00121976 1 0 SPHK2 56848 broad.mit.edu 37 19 49132292 49132292 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:49132292G>A uc002pjr.2 + 7 1593 c.1227G>A c.(1225-1227)CCG>CCA p.P409P SPHK2_uc010xzt.1_Silent_p.P350P|SPHK2_uc002pjs.2_Silent_p.P409P|SPHK2_uc002pjt.2_Silent_p.P203P|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.P373P|SPHK2_uc002pjw.2_Silent_p.P471P NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 409 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) Acccagccccgcccatggccc 0.343 NA 8 22 0 0 0 0 TULP2 7288 broad.mit.edu 37 19 49399725 49399725 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:49399725C>T uc002pkz.2 - 4 324 c.173G>A c.(172-174)CGC>CAC p.R58H NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 58 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CAGACAAGAGCGCCAAAGCCA 0.637 NA 17 29 0 0 0 0 APOB 338 broad.mit.edu 37 2 21233458 21233458 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:21233458G>A uc002red.2 - 26 6410 c.6282C>T c.(6280-6282)AAC>AAT p.N2094N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2094 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) TTCTCTGTACGTTTTCCAGTA 0.363 NA 10 40 0 0 0 0 UBXN2A 165324 broad.mit.edu 37 2 24222567 24222567 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:24222567G>A uc010exy.2 + 8 1078 c.610G>A c.(610-612)GAA>AAA p.E204K UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.E204K|UBXN2A_uc010ykj.1_Missense_Mutation_p.E151K NM_181713 NP_859064 P68543 UBX2A_HUMAN UBX domain containing 4 204 UBX. 0 AGACTTCATTGAAAAATACCA 0.363 NA 19 36 0 0 0 0 DHX57 90957 broad.mit.edu 37 2 39065051 39065051 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:39065051C>T uc002rrf.2 - 13 2563 c.2464G>A c.(2464-2466)GAT>AAT p.D822N DHX57_uc002rrd.3_Missense_Mutation_p.D206N|DHX57_uc002rre.2_Missense_Mutation_p.D255N NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 822 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) TTTTCAAAATCCATGATGGAC 0.358 NA 20 34 0 0 0 0 BUB1 699 broad.mit.edu 37 2 111419371 111419371 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:111419371C>T uc002tgc.2 - 10 1117 c.1005G>A c.(1003-1005)CTG>CTA p.L335L BUB1_uc010yxh.1_Silent_p.L315L|BUB1_uc010fkb.2_Silent_p.L335L|BUB1_uc002tgd.2_Silent_p.L335L NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 335 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATGGCGCTCTCAGTTCCTGCT 0.453 NA 25 48 0 0 0 0 IWS1 55677 broad.mit.edu 37 2 128262665 128262665 + Nonsense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:128262665G>A uc002ton.2 - 3 1117 c.814C>T c.(814-816)CGA>TGA p.R272* IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank|IWS1_uc010fma.2_RNA NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 272 Glu-rich.|2.|3 X approximate tandem repeats. transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TCACTGATTCGGGGTTTGGGA 0.522 NA 75 153 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168103818 168103818 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:168103818C>A uc002udx.2 + 8 5934 c.5916C>A c.(5914-5916)AAC>AAA p.N1972K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1797K|XIRP2_uc010fpq.2_Missense_Mutation_p.N1750K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1797 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCCAGAGGAACAAAAATAGTC 0.458 NA 13 23 9.05e-12 1.02e-11 1 0 TTN 7273 broad.mit.edu 37 2 179529198 179529198 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:179529198A>G uc010zfk.1 - 13 1255 c.707T>C c.(706-708)GTA>GCA p.V236A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 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) TTTGACAGGTACAACTTCAGC 0.403 NA 33 72 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179549471 179549471 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:179549471C>T uc010zfg.1 - 128 29052 c.28828G>A c.(28828-28830)GAA>AAA p.E9610K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6271K|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10537 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) TTTGGCTCTTCTGGCACTTAA 0.388 NA 12 26 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202149659 202149659 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:202149659A>G uc002uxr.1 + 9 1132 c.923A>G c.(922-924)GAC>GGC p.D308G CASP8_uc002uxp.1_Missense_Mutation_p.D325G|CASP8_uc002uxq.1_Missense_Mutation_p.D293G|CASP8_uc002uxt.1_Missense_Mutation_p.D367G|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.D293G|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.D224G NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 308 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 AGTAACATGGACTGCTTCATC 0.468 NA HNSCC(4;0.00038) 62 38 0 0 0 0 INHA 3623 broad.mit.edu 37 2 220439822 220439822 + Silent SNP T T C rs139608664 byFrequency TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:220439822T>C uc002vmk.1 + 2 819 c.675T>C c.(673-675)AGT>AGC p.S225S NM_002191 NP_002182 P05111 INHA_HUMAN inhibin alpha subunit precursor 225 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity ovary(1) 1 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GACCACCCAGTGGAGGGGAGA 0.692 NA 26 13 0 0 0 0 ESPNL 339768 broad.mit.edu 37 2 239040266 239040266 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:239040266C>G uc002vxq.3 + 9 3021 c.2911C>G c.(2911-2913)CGC>GGC p.R971G ESPNL_uc010fyw.2_Missense_Mutation_p.R667G NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 971 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GCTGGGGTCCCGCTCCCAGCA 0.652 NA 19 10 0 0 0 0 BCAS1 8537 broad.mit.edu 37 20 52644969 52644969 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr20:52644969C>T uc002xws.2 - 4 1023 c.685G>A c.(685-687)GGC>AGC p.G229S BCAS1_uc010zzb.1_Missense_Mutation_p.G132S|BCAS1_uc010gim.2_Missense_Mutation_p.G132S|BCAS1_uc002xwt.2_Missense_Mutation_p.G229S|BCAS1_uc010gil.1_Missense_Mutation_p.G229S|BCAS1_uc010zzc.1_Missense_Mutation_p.G132S NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 229 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CCTGATAAGCCAGGAACCTCA 0.532 NA 52 144 0 0 0 0 RGL4 266747 broad.mit.edu 37 22 24035110 24035110 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr22:24035110G>A uc002zxn.2 + 3 1798 c.628G>A c.(628-630)GAG>AAG p.E210K LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.E210K|RGL4_uc002zxp.1_Missense_Mutation_p.E74K|RGL4_uc002zxq.2_Missense_Mutation_p.E74K NM_153615 NP_705843 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation 210 Pro-rich. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 CCAACCCAGTGAGGAGCTGCC 0.622 NA 8 31 0 0 0 0 C22orf13 83606 broad.mit.edu 37 22 24943916 24943916 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr22:24943916C>A uc003aah.2 - 3 570 c.254G>T c.(253-255)TGT>TTT p.C85F C22orf13_uc003aal.2_Missense_Mutation_p.C141F|C22orf13_uc003aai.3_Missense_Mutation_p.C85F|C22orf13_uc003aaj.3_Missense_Mutation_p.C85F|C22orf13_uc003aak.3_Missense_Mutation_p.C141F NM_031444 NP_113632 Q96NT3 CV013_HUMAN chromosome 22 open reading frame 13 85 0 GGTCTGGGTACAGAAGCGGTG 0.602 NA 19 35 5.35e-07 5.87e-07 1 0 TTC21A 199223 broad.mit.edu 37 3 39178436 39178436 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:39178436C>T uc003cjc.2 + 24 3340 c.3163C>T c.(3163-3165)CGC>TGC p.R1055C TTC21A_uc003cje.2_Missense_Mutation_p.R1056C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R1007C|TTC21A_uc003cjf.2_Missense_Mutation_p.R176C NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 1055 TPR 16. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GAACAAGGCACGCAAGGACAG 0.478 NA 10 58 0 0 0 0 MAP4 4134 broad.mit.edu 37 3 47912526 47912526 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:47912526G>A uc003csb.2 - 13 3162 c.2636C>T c.(2635-2637)GCC>GTC p.A879V MAP4_uc003csc.3_Missense_Mutation_p.A879V|MAP4_uc003crw.2_Missense_Mutation_p.A11V|MAP4_uc003crx.2_Missense_Mutation_p.A139V|MAP4_uc011bbe.1_Missense_Mutation_p.A630V|MAP4_uc003cry.2_Missense_Mutation_p.A614V|MAP4_uc003csa.3_Missense_Mutation_p.A614V|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.A614V NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 879 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGCAGCGGGGGCTGTCCCACT 0.587 NA 18 41 0 0 0 0 EPHA3 2042 broad.mit.edu 37 3 89498433 89498433 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:89498433C>G uc003dqy.2 + 14 2630 c.2405C>G c.(2404-2406)ACG>AGG p.T802R EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 802 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CGCAAGTTCACGTCAGCCAGC 0.438 NA TSP Lung(6;0.00050) 25 71 0 0 0 0 GAP43 2596 broad.mit.edu 37 3 115395076 115395076 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:115395076G>C uc003ebq.2 + 2 633 c.247G>C c.(247-249)GAA>CAA p.E83Q GAP43_uc003ebr.2_Missense_Mutation_p.E119Q NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 83 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) GAAGAAGGGAGAAGGCACCAC 0.562 NA 10 21 0 0 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181438 128181438 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:128181438C>T uc003ekk.1 - 3 2312 c.651G>A c.(649-651)TCG>TCA p.S217S uc003ekl.1_5'Flank NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN DnaJ homolog, subfamily B, member 8 217 protein folding heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(114;0.177) TCACAGTCACCGACTTGAGCT 0.632 NA 28 67 0 0 0 0 LSG1 55341 broad.mit.edu 37 3 194392825 194392825 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:194392825G>A uc003fui.2 - 1 382 c.67C>T c.(67-69)CGG>TGG p.R23W NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 23 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CTTCGGCTCCGCTGAGTCTGA 0.597 NA 13 24 0 0 0 0 AFAP1 60312 broad.mit.edu 37 4 7795475 7795475 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:7795475G>A uc003gkg.1 - 11 1618 c.1345C>T c.(1345-1347)CTG>TTG p.L449L AFAP1_uc011bwk.1_Silent_p.L449L NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 449 actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 TCATAGTGCAGAGCCTCCGGG 0.498 NA 23 74 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20258327 20258327 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:20258327C>T uc003gpr.1 + 2 416 c.212C>T c.(211-213)ACG>ATG p.T71M SLIT2_uc003gps.1_Missense_Mutation_p.T71M NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 71 LRR 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ACAAGAATTACGAAGACAGAT 0.294 NA 14 28 0 0 0 0 PCDH7 5099 broad.mit.edu 37 4 30726069 30726069 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:30726069C>T uc003gsk.1 + 1 4033 c.3025C>T c.(3025-3027)CCC>TCC p.P1009S PCDH7_uc011bxw.1_Missense_Mutation_p.P962S|PCDH7_uc011bxx.1_Missense_Mutation_p.P1009S NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 1009 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 TCAGCTTCATCCCCAGTCACC 0.507 NA 13 29 0 0 0 0 GYPA 2993 broad.mit.edu 37 4 145035857 145035857 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:145035857C>T uc003ijo.3 - 6 537 c.421G>A c.(421-423)GAA>AAA p.E141K GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.E108K|GYPA_uc003ijp.3_Missense_Mutation_p.E109K|GYPA_uc010ioq.2_Missense_Mutation_p.E128K|GYPA_uc010ior.2_Missense_Mutation_p.E76K|GYPA_uc010ios.1_RNA NM_002099 NP_002090 P02724 GLPA_HUMAN glycophorin A precursor 141 Cytoplasmic. interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2) 2 all_hematologic(180;0.15) TTTTCTATTTCAACAGAACTT 0.353 NA 11 26 0 0 0 0 TLL1 7092 broad.mit.edu 37 4 166929097 166929097 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:166929097C>G uc003irh.1 + 7 1461 c.814C>G c.(814-816)CAA>GAA p.Q272E TLL1_uc011cjn.1_Missense_Mutation_p.Q272E|TLL1_uc011cjo.1_Missense_Mutation_p.Q96E NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 272 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTTCTTAGGTCAAGAGTACAA 0.408 NA 17 39 0 0 0 0 FAM149A 25854 broad.mit.edu 37 4 187086549 187086549 + Missense_Mutation SNP C C A rs34360147 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:187086549C>A uc003iyt.3 + 11 1674 c.1095C>A c.(1093-1095)AGC>AGA p.S365R FAM149A_uc011cla.1_Missense_Mutation_p.S365R|FAM149A_uc003iyu.3_Missense_Mutation_p.S365R|FAM149A_uc010isl.2_Missense_Mutation_p.S365R|FAM149A_uc011clb.1_Missense_Mutation_p.S365R NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 656 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) CGTCACGGAGCAGGTTCCCCC 0.542 NA 10 33 6.4e-05 6.82e-05 1 0 ADCY2 108 broad.mit.edu 37 5 7773108 7773108 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr5:7773108G>C uc003jdz.1 + 18 2345 c.2278G>C c.(2278-2280)GAG>CAG p.E760Q ADCY2_uc011cmo.1_Missense_Mutation_p.E580Q NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 760 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|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGTAAACTATGAGCTGAAGAT 0.502 NA 30 75 0 0 0 0 GPBP1 65056 broad.mit.edu 37 5 56546873 56546873 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr5:56546873G>C uc003jrh.3 + 10 2339 c.1065G>C c.(1063-1065)GAG>GAC p.E355D GPBP1_uc010iwg.2_Missense_Mutation_p.E375D|GPBP1_uc003jri.3_Missense_Mutation_p.E184D|GPBP1_uc003jrj.3_Missense_Mutation_p.E347D|GPBP1_uc003jrk.3_Missense_Mutation_p.E362D|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) TTCCTCAAGAGAATGGCAATG 0.398 NA 12 38 0 0 0 0 CTNNA1 1495 broad.mit.edu 37 5 138260216 138260216 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr5:138260216G>C uc003ldh.2 + 12 1659 c.1564G>C c.(1564-1566)GAT>CAT p.D522H CTNNA1_uc011cyx.1_Missense_Mutation_p.D419H|CTNNA1_uc011cyy.1_Missense_Mutation_p.D399H|CTNNA1_uc003ldi.2_Missense_Mutation_p.D220H|CTNNA1_uc003ldj.2_Missense_Mutation_p.D522H|CTNNA1_uc003ldl.2_Missense_Mutation_p.D152H NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 522 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CATTTTGGAAGATGTGAACAA 0.463 NA 5 17 0 0 0 0 SLC36A2 153201 broad.mit.edu 37 5 150723750 150723750 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr5:150723750G>A uc003lty.2 - 2 373 c.243C>T c.(241-243)AAC>AAT p.N81N GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Translation_Start_Site|SLC36A2_uc010jhv.2_Silent_p.N81N|SLC36A2_uc011dct.1_Silent_p.N81N NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 81 Extracellular (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGATGCCCGCGTTCTTCACAG 0.547 NA 5 17 0 0 0 0 TRIM27 5987 broad.mit.edu 37 6 28871933 28871933 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:28871933G>A uc003nlr.2 - 8 1815 c.1456C>T c.(1456-1458)CCT>TCT p.P486S TRIM27_uc003nls.2_3'UTR|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 486 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 ATGATCAGAGGAGCTGCACTT 0.522 NA T RET papillary thyroid 22 69 0 0 0 0 TRERF1 55809 broad.mit.edu 37 6 42224469 42224469 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:42224469C>T uc003osd.2 - 12 3140 c.2577G>A c.(2575-2577)GTG>GTA p.V859V TRERF1_uc011duq.1_Silent_p.V776V|TRERF1_uc003osb.2_Silent_p.V615V|TRERF1_uc003osc.2_Silent_p.V615V|TRERF1_uc003ose.2_Silent_p.V879V NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 859 ELM2.|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) TCCTTACCATCACATCACCTT 0.403 NA 14 37 0 0 0 0 RIMS1 22999 broad.mit.edu 37 6 72889449 72889449 + Nonsense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:72889449C>T uc003pga.2 + 5 720 c.643C>T c.(643-645)CGA>TGA p.R215* RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 215 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) ACTCCAAGAGCGATCGCGGTC 0.587 NA 12 40 0 0 0 0 BEND3 57673 broad.mit.edu 37 6 107390676 107390676 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:107390676G>A uc003prs.2 - 5 2369 c.1719C>T c.(1717-1719)TTC>TTT p.F573F NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 573 BEN 3. ovary(3) 3 GGCGCGAGGCGAAGTTGCCGA 0.637 NA 27 40 0 0 0 0 MAP7 9053 broad.mit.edu 37 6 136687111 136687111 + Silent SNP C C T rs143331676 byFrequency TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:136687111C>T uc003qgz.2 - 10 1281 c.1035G>A c.(1033-1035)CCG>CCA p.P345P MAP7_uc011edf.1_Silent_p.P330P|MAP7_uc011edg.1_Silent_p.P375P|MAP7_uc010kgu.2_Silent_p.P367P|MAP7_uc011edh.1_Silent_p.P330P|MAP7_uc010kgv.2_Silent_p.P367P|MAP7_uc010kgs.2_Silent_p.P199P|MAP7_uc011edi.1_Silent_p.P199P|MAP7_uc010kgq.1_Silent_p.P251P|MAP7_uc003qha.1_Silent_p.P308P|MAP7_uc010kgr.2_Silent_p.P199P NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 345 Pro-rich. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) AGGAGGATGTCGGTCTGGGTG 0.592 NA 15 42 0 0 0 0 HBP1 26959 broad.mit.edu 37 7 106826299 106826299 + Missense_Mutation SNP G G A rs151293151 by1000genomes TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:106826299G>A uc003vdy.2 + 4 638 c.452G>A c.(451-453)CGC>CAC p.R151H HBP1_uc011klv.1_Missense_Mutation_p.R161H|HBP1_uc003vdz.2_Missense_Mutation_p.R151H|HBP1_uc003vea.2_Missense_Mutation_p.R151H|HBP1_uc003veb.1_Missense_Mutation_p.R151H NM_012257 NP_036389 O60381 HBP1_HUMAN HMG-box transcription factor 1 151 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding skin(1) 1 TCCTATGCACGCCCTCCACCA 0.423 NA 39 61 0 0 0 0 NOS3 4846 broad.mit.edu 37 7 150695737 150695737 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:150695737G>A uc003wif.2 + 7 1081 c.785G>A c.(784-786)CGG>CAG p.R262Q NOS3_uc011kuy.1_Missense_Mutation_p.R56Q|NOS3_uc011kuz.1_Missense_Mutation_p.R262Q|NOS3_uc011kva.1_Missense_Mutation_p.R262Q|NOS3_uc011kvb.1_Missense_Mutation_p.R262Q NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 262 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGCTCTGTGCGGGGGGACCCA 0.652 NA 3 8 0 0 0 0 SHH 6469 broad.mit.edu 37 7 155599120 155599120 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:155599120G>A uc003wmk.1 - 2 583 c.432C>T c.(430-432)CGC>CGT p.R144R SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Silent_p.R57R|SHH_uc003wmj.1_Silent_p.R57R NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 144 R -> P (in HPE3). androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTCCACTGCGCGGCCCTCGT 0.642 NA 13 18 0 0 0 0 TNKS 8658 broad.mit.edu 37 8 9564372 9564372 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:9564372G>A uc003wss.2 + 8 1326 c.1321G>A c.(1321-1323)GAG>AAG p.E441K TNKS_uc011kwv.1_Missense_Mutation_p.E441K|TNKS_uc011kww.1_Missense_Mutation_p.E204K NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 441 ANK 6. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) TCCACTGCACGAGGCTGCTTC 0.438 NA 20 66 0 0 0 0 DPYS 1807 broad.mit.edu 37 8 105393527 105393527 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:105393527G>C uc003yly.3 - 9 1588 c.1459C>G c.(1459-1461)CCT>GCT p.P487A DPYS_uc010mcf.1_Missense_Mutation_p.P57A NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 487 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CGCTCCACAGGGGTAGGTGTG 0.473 NA 13 53 0 0 0 0 EXT1 2131 broad.mit.edu 37 8 119123160 119123160 + Silent SNP A A T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:119123160A>T uc003yok.1 - 1 899 c.126T>A c.(124-126)GGT>GGA p.G42G NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 42 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) AGCCATTCCTACCGCTGTGTT 0.562 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 7 30 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139268962 139268962 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:139268962A>G uc003yuy.2 - 5 509 c.338T>C c.(337-339)GTG>GCG p.V113A FAM135B_uc003yux.2_Missense_Mutation_p.V14A|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 113 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) GTGCAGATCCACCTTGAGTTG 0.438 NA HNSCC(54;0.14) 3 25 0 0 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141370156 141370156 + Silent SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:141370156C>G uc003yvj.2 - 9 1622 c.1488G>C c.(1486-1488)TCG>TCC p.S496S TRAPPC9_uc003yvh.2_Silent_p.S594S|TRAPPC9_uc003yvi.1_Silent_p.S487S NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 496 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 CACCCTGATCCGACAAGAAGT 0.498 NA 18 64 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144992793 144992793 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:144992793G>A uc003zaf.1 - 32 11777 c.11607C>T c.(11605-11607)TTC>TTT p.F3869F PLEC_uc003zab.1_Silent_p.F3732F|PLEC_uc003zac.1_Silent_p.F3736F|PLEC_uc003zad.2_Silent_p.F3732F|PLEC_uc003zae.1_Silent_p.F3700F|PLEC_uc003zag.1_Silent_p.F3710F|PLEC_uc003zah.2_Silent_p.F3718F|PLEC_uc003zaj.2_Silent_p.F3759F NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3869 Globular 2.|Plectin 18. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GGTCCAGCAGGAAGCCTGTGG 0.672 NA 10 33 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35720835 35720835 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:35720835C>T uc003zxt.2 - 11 1534 c.1180G>A c.(1180-1182)GGC>AGC p.G394S NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 394 FERM.|Interaction with LAYN (By similarity). 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) TCGATGTAGCCGGCAATGAGC 0.512 NA 9 95 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84605930 84605930 + Missense_Mutation SNP A A T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:84605930A>T uc004amn.2 + 4 592 c.545A>T c.(544-546)GAA>GTA p.E182V NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 182 Pro-rich. integral to membrane 0 ACCCCTCCAGAAGACCTAATA 0.547 NA 20 59 0 0 0 0 FBP1 2203 broad.mit.edu 37 9 97369181 97369181 + Silent SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:97369181A>G uc004auw.3 - 5 952 c.621T>C c.(619-621)GGT>GGC p.G207G FBP1_uc010mrl.2_Silent_p.G207G NM_000507 NP_000498 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 207 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TGTAGATTTTACCTTTCTTTT 0.512 NA 39 45 0 0 0 0 KIAA1529 57653 broad.mit.edu 37 9 100071844 100071844 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:100071844G>A uc011lut.1 + 15 1540 c.767G>A c.(766-768)AGC>AAC p.S256N KIAA1529_uc004axe.1_Missense_Mutation_p.S256N|KIAA1529_uc004axg.1_Missense_Mutation_p.S117N|KIAA1529_uc011lus.1_Missense_Mutation_p.S117N|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.S117N|KIAA1529_uc011luv.1_Missense_Mutation_p.S117N NM_020893 NP_065944 hypothetical protein LOC57653 p.S256R(1) ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TGGATGCACAGCCTCCCCAAC 0.547 NA 13 38 0 0 0 0 ZBTB43 23099 broad.mit.edu 37 9 129596134 129596134 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:129596134C>T uc004bql.2 + 3 1619 c.1346C>T c.(1345-1347)TCT>TTT p.S449F ZBTB43_uc010mxf.2_Missense_Mutation_p.S449F NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 449 C2H2-type 3; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CATGTGACTTCTTGTACTAAG 0.443 NA 37 127 0 0 0 0 PMPCA 23203 broad.mit.edu 37 9 139311437 139311437 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:139311437G>A uc004chl.2 + 7 673 c.668G>A c.(667-669)CGT>CAT p.R223H PMPCA_uc010nbl.2_Missense_Mutation_p.R123H|PMPCA_uc011mdz.1_Missense_Mutation_p.R92H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 223 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GGCCTCCACCGTTTCTGCCCC 0.562 NA 7 32 0 0 0 0 ABCA2 20 broad.mit.edu 37 9 139912245 139912245 + Silent SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:139912245G>C uc011mem.1 - 15 2350 c.2202C>G c.(2200-2202)CTC>CTG p.L734L ABCA2_uc011mel.1_Silent_p.L735L|ABCA2_uc004ckl.1_Silent_p.L665L|ABCA2_uc004ckm.1_Silent_p.L765L|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 734 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCACCTCCTTGAGCCGGTGCT 0.692 NA 5 15 0 0 0 0 FAM47C 442444 broad.mit.edu 37 X 37026576 37026576 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:37026576G>A uc004ddl.1 + 1 107 c.93G>A c.(91-93)GCG>GCA p.A31A NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 31 ovary(3) 3 AGTACTTCGCGAAGCGCAAGC 0.642 NA 12 10 0 0 0 0 SPANXN5 494197 broad.mit.edu 37 X 52825613 52825613 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:52825613G>C uc004drc.1 - 2 134 c.134C>G c.(133-135)ACA>AGA p.T45R NM_001009616 NP_001009616 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 45 0 Ovarian(276;0.236) ATATTCTGATGTTTTCATCTT 0.393 NA 3 47 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53563194 53563194 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:53563194C>T uc004dsp.2 - 80 12847 c.12445G>A c.(12445-12447)GAA>AAA p.E4149K HUWE1_uc004dsn.2_Missense_Mutation_p.E2957K NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4149 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TGGTAATCTTCACTCTCCATA 0.448 NA 11 22 0 0 0 0 CHM 1121 broad.mit.edu 37 X 85302517 85302517 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:85302517G>A uc004eet.2 - 1 50 c.20C>T c.(19-21)TCG>TTG p.S7L CHM_uc011mqz.1_5'UTR|CHM_uc004eeu.3_5'Flank|CHM_uc004eev.3_Missense_Mutation_p.S7L NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 7 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) ATCAAACTCCGAAGGGAGAGT 0.468 NA 7 4 0 0 0 0 IGSF1 3547 broad.mit.edu 37 X 130416550 130416550 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:130416550C>T uc004ewd.2 - 7 1352 c.1114G>A c.(1114-1116)GAT>AAT p.D372N IGSF1_uc004ewe.3_Missense_Mutation_p.D361N|IGSF1_uc004ewf.2_Missense_Mutation_p.D352N NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 372 Ig-like C2-type 4.|Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GTGTTGTCATCGATGCTGGTG 0.468 NA 38 28 0 0 0 0 ATP2B3 492 broad.mit.edu 37 X 152813447 152813447 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:152813447C>T uc004fht.1 + 7 1239 c.1113C>T c.(1111-1113)ATC>ATT p.I371I ATP2B3_uc004fhs.1_Silent_p.I371I NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 371 Helical; (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGTGCAGATCGGGAAAGCAG 0.597 NA 12 22 0 0 0 0 ATP8B4 79895 broad.mit.edu 37 15 50190329 50190329 + Frame_Shift_Del DEL C C - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:50190329delC uc001zxu.2 - 22 2551 c.2409delG c.(2407-2409)AAGfs p.K803fs ATP8B4_uc010ber.2_Frame_Shift_Del_p.K676fs|ATP8B4_uc010ufd.1_Frame_Shift_Del_p.K613fs|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Frame_Shift_Del_p.K101fs NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 803 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTCTGTACTTCTTCACCAGCT 0.433 NA 31 50 --- --- --- --- NA NA NA NA C17orf104 284071 broad.mit.edu 37 17 42746783 42746783 + Frame_Shift_Del DEL A A - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:42746783delA uc010czv.2 + 6 2355 c.2355delA c.(2353-2355)GGAfs p.G785fs C17orf104_uc002igz.3_Frame_Shift_Del_p.G619fs|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Frame_Shift_Del_p.G619fs NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 785 central_nervous_system(1) 1 ATTATCCTGGAAAAAAAGTAT 0.353 NA 2 4 --- --- --- --- NA NA NA NA ZNF43 7594 broad.mit.edu 37 19 21992490 21992491 + Frame_Shift_Ins INS - - T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:21992490_21992491insT uc002nqj.2 - 4 478_479 c.348_349insA c.(346-351)AAAGACfs p.K116fs ZNF43_uc010ecv.2_Frame_Shift_Ins_p.K110fs|ZNF43_uc002nql.2_Frame_Shift_Ins_p.K110fs|ZNF43_uc002nqm.2_Frame_Shift_Ins_p.K110fs|ZNF43_uc002nqk.2_Frame_Shift_Ins_p.K46fs NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 116_117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CTTTTATGGTCTTTTTTTAAAT 0.351 NA 18 55 --- --- --- --- NA NA NA NA GTF2IRD2 84163 broad.mit.edu 37 7 74239555 74239556 + In_Frame_Ins INS - - TAC TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:74239555_74239556insTAC uc003ubd.1 - 4 448_449 c.264_265insGTA c.(262-267)insGTA p.88_89insV GTF2IRD2_uc011kfi.1_In_Frame_Ins_p.88_89insV|GTF2IRD2_uc003ubf.1_In_Frame_Ins_p.88_89insV|GTF2IRD2_uc003ubg.1_In_Frame_Ins_p.88_89insV NM_173537 NP_775808 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 88_89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAGGGAGGTTTCACCTCACACA 0.485 NA 7 33 --- --- --- --- NA NA NA NA SLC26A7 115111 broad.mit.edu 37 8 92350418 92350418 + Frame_Shift_Del DEL A A - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:92350418delA uc003yex.2 + 8 1114 c.836delA c.(835-837)GAAfs p.E279fs SLC26A7_uc003yey.2_Intron|SLC26A7_uc003yez.2_Frame_Shift_Del_p.E279fs|SLC26A7_uc003yfa.2_Frame_Shift_Del_p.E279fs NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 279 Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) ACCAATATGGAAAACACATAT 0.303 NA 17 56 --- --- --- --- NA NA NA NA ZXDA 7789 broad.mit.edu 37 X 57935195 57935196 + Frame_Shift_Del DEL AG AG - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:57935195_57935196delAG uc004dve.2 - 1 1872_1873 c.1659_1660delCT c.(1657-1662)CTCTTCfs p.L553fs NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 553_554 C2H2-type 10.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TTGGATGTGAAGAGTTTATTAC 0.485 NA 10 24 --- --- --- --- NA NA NA NA