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 filter ISG15 9636 broad.mit.edu 37 1 949562 949562 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:949562G>A uc001acj.3 + 2 309 c.202G>A c.(202-204)GGC>AGC p.G68S NM_005101 NP_005092 P05161 ISG15_HUMAN ISG15 ubiquitin-like modifier precursor 68 Ubiquitin-like 1. cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway cytosol|extracellular space protein binding 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CCTGGGCCCCGGCAGCACGGT 0.662 37 47 --- --- --- --- PASS KIAA1751 85452 broad.mit.edu 37 1 1897928 1897928 + Nonsense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:1897928A>T uc001aim.1 - 12 1439 c.1283T>A c.(1282-1284)TTG>TAG p.L428* KIAA1751_uc009vkz.1_Nonsense_Mutation_p.L428* NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 428 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GACTTCCAGCAACCGAGAGGG 0.587 22 45 --- --- --- --- PASS SPSB1 80176 broad.mit.edu 37 1 9416114 9416114 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:9416114C>T uc010oae.1 + 2 503 c.164C>T c.(163-165)TCA>TTA p.S55L SPSB1_uc001apv.2_Missense_Mutation_p.S55L NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 55 B30.2/SPRY. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) CTGCTGCATTCATGGAACAAC 0.567 29 111 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10386247 10386247 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:10386247C>T uc001aqx.3 + 27 2956 c.2754C>T c.(2752-2754)TCC>TCT p.S918S KIF1B_uc001aqw.3_Silent_p.S872S|KIF1B_uc001aqy.2_Silent_p.S892S|KIF1B_uc001aqz.2_Silent_p.S918S|KIF1B_uc001ara.2_Silent_p.S878S|KIF1B_uc001arb.2_Silent_p.S904S NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 918 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CGGCCGATTCCGACATCACTG 0.592 31 141 --- --- --- --- PASS PLOD1 5351 broad.mit.edu 37 1 12016994 12016994 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:12016994G>C uc001atm.2 + 7 755 c.664G>C c.(664-666)GAA>CAA p.E222Q PLOD1_uc010obb.1_Missense_Mutation_p.E269Q NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 222 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GCTCAAGTTTGAAATGGGCCA 0.493 3 120 --- --- --- --- PASS C1orf158 93190 broad.mit.edu 37 1 12820845 12820845 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:12820845G>T uc001auh.2 + 4 762 c.546G>T c.(544-546)CCG>CCT p.P182P NM_152290 NP_689503 Q8N1D5 CA158_HUMAN hypothetical protein LOC93190 182 ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATGCGGTCCCGGTCCCTCCCC 0.587 6 84 --- --- --- --- PASS PTAFR 5724 broad.mit.edu 37 1 28476843 28476843 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:28476843C>T uc001bpl.2 - 2 817 c.690G>A c.(688-690)GCG>GCA p.A230A PTAFR_uc001bpm.3_Silent_p.A230A|PTAFR_uc009vte.2_Silent_p.A230A NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 230 Cytoplasmic (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CCATCCACAGCGCCCGGCGCT 0.612 6 36 --- --- --- --- PASS CDCA8 55143 broad.mit.edu 37 1 38158662 38158662 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:38158662G>T uc001cbr.2 + 3 287 c.180G>T c.(178-180)CGG>CGT p.R60R C1orf109_uc010oig.1_5'Flank|C1orf109_uc001cbo.2_5'Flank|C1orf109_uc001cbp.2_5'Flank|C1orf109_uc001cbq.1_5'Flank|CDCA8_uc001cbs.2_Silent_p.R60R|CDCA8_uc010oih.1_5'UTR NM_018101 NP_060571 Q53HL2 BOREA_HUMAN cell division cycle associated 8 60 Required for centromere localization.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.|Required for interaction with INCENP and BIRC5. cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGATCCTGCGGCTCCCCAAGG 0.567 23 42 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39798692 39798692 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:39798692G>A uc010oiu.1 + 1 1883 c.1752G>A c.(1750-1752)TTG>TTA p.L584L MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2149 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGTGCCGTTGGTGGTTGACA 0.468 9 68 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39888172 39888172 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:39888172G>C uc010oiu.1 + 23 11394 c.11263G>C c.(11263-11265)GAG>CAG p.E3755Q MACF1_uc010ois.1_Missense_Mutation_p.E3253Q|MACF1_uc001cda.1_Missense_Mutation_p.E3140Q|MACF1_uc001cdc.1_Missense_Mutation_p.E2319Q NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 5320 Spectrin 6. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGACATGGAAGAGATCAATGC 0.418 13 55 --- --- --- --- PASS NT5C1A 84618 broad.mit.edu 37 1 40126838 40126838 + Silent SNP C A A rs144981890 by1000genomes TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:40126838C>A uc001cdq.1 - 5 654 c.654G>T c.(652-654)TCG>TCT p.S218S NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 218 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCGACTCGTCCGAGAAGAGCA 0.622 3 84 --- --- --- --- PASS PTCH2 8643 broad.mit.edu 37 1 45292729 45292729 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:45292729C>G uc010olf.1 - 17 2552 c.2540G>C c.(2539-2541)AGA>ACA p.R847T PTCH2_uc010olg.1_Missense_Mutation_p.R545T NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 847 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) CAGTCCCTCTCTGTCCACCAG 0.642 Basal_Cell_Nevus_syndrome 35 96 --- --- --- --- PASS PTCH2 8643 broad.mit.edu 37 1 45293550 45293550 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:45293550G>A uc010olf.1 - 14 2035 c.2023C>T c.(2023-2025)CAG>TAG p.Q675* PTCH2_uc010olg.1_Nonsense_Mutation_p.Q373* NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 675 Cytoplasmic (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) GGGGCAAACTGATAGCGGGCG 0.597 Basal_Cell_Nevus_syndrome 12 76 --- --- --- --- PASS FAAH 2166 broad.mit.edu 37 1 46874151 46874151 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:46874151C>G uc001cpu.2 + 8 1054 c.972C>G c.(970-972)CCC>CCG p.P324P FAAH_uc001cpv.2_RNA NM_001441 NP_001432 O00519 FAAH1_HUMAN fatty acid amide hydrolase 324 Cytoplasmic (By similarity). fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) GCTCTCAGCCCCTGCGTGTGG 0.602 14 347 --- --- --- --- PASS JUN 3725 broad.mit.edu 37 1 59248409 59248409 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:59248409C>T uc001cze.2 - 1 1377 c.334G>A c.(334-336)GAG>AAG p.E112K uc001czf.2_5'Flank|uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN jun oncogene 112 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) ACGAAGCCCTCGGCGAAGCCC 0.672 A sarcoma 4 107 --- --- --- --- PASS LHX8 431707 broad.mit.edu 37 1 75608891 75608891 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:75608891G>C uc001dgo.2 + 6 1142 c.478G>C c.(478-480)GCA>CCA p.A160P LHX8_uc001dgq.2_Missense_Mutation_p.A99P NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 160 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CTATCACTTGGCATGCTTTGC 0.473 35 80 --- --- --- --- PASS IFI44 10561 broad.mit.edu 37 1 79119954 79119954 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:79119954G>A uc001dip.3 + 3 608 c.484G>A c.(484-486)GGG>AGG p.G162R IFI44_uc010orr.1_Missense_Mutation_p.G162R|IFI44_uc010ors.1_5'UTR NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 162 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 AAAGATAAAAGGGGTCATTGA 0.303 18 51 --- --- --- --- PASS LRRC8C 84230 broad.mit.edu 37 1 90179549 90179549 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:90179549C>T uc001dnl.3 + 3 1662 c.1420C>T c.(1420-1422)CTG>TTG p.L474L NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 474 LRR 4. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AGAGCTCTCTCTGCACCAGTG 0.438 8 92 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94528861 94528861 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:94528861C>A uc001dqh.2 - 12 1671 c.1567G>T c.(1567-1569)GAT>TAT p.D523Y ABCA4_uc010otn.1_Missense_Mutation_p.D523Y NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 523 Extracellular. D -> E (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TCAAACTTATCCAGGACCAAG 0.483 15 115 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94528862 94528862 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:94528862C>T uc001dqh.2 - 12 1670 c.1566G>A c.(1564-1566)CTG>CTA p.L522L ABCA4_uc010otn.1_Silent_p.L522L NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 522 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAAACTTATCCAGGACCAAGC 0.488 15 113 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102270254 102270254 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:102270254C>T uc001duf.2 - 6 1048 c.977G>A c.(976-978)CGA>CAA p.R326Q OLFM3_uc001dug.2_Missense_Mutation_p.R306Q|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.R231Q|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 326 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CTCCAGGCTTCGTTGGGCAAG 0.438 8 77 --- --- --- --- PASS AKNAD1 254268 broad.mit.edu 37 1 109394332 109394332 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:109394332G>A uc001dwa.2 - 2 1224 c.955C>T c.(955-957)CAG>TAG p.Q319* AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 319 ovary(3) 3 TTCCCTTTCTGCTCTTGATGT 0.413 29 174 --- --- --- --- PASS CAPZA1 829 broad.mit.edu 37 1 113189874 113189874 + Nonsense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:113189874G>T uc001ecj.1 + 2 474 c.82G>T c.(82-84)GAA>TAA p.E28* NM_006135 NP_006126 P52907 CAZA1_HUMAN F-actin capping protein alpha-1 subunit 28 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCCCCAGGGGAATTTAATGA 0.328 50 129 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120510147 120510147 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:120510147C>G uc001eik.2 - 8 1618 c.1362G>C c.(1360-1362)GAG>GAC p.E454D NOTCH2_uc001eil.2_Missense_Mutation_p.E454D|NOTCH2_uc001eim.3_Missense_Mutation_p.E371D NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 454 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGATGTCCATCTCACAACGAG 0.502 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 30 118 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144886112 144886112 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:144886112G>A uc001elw.3 - 23 3413 c.3122C>T c.(3121-3123)TCA>TTA p.S1041L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1107L|PDE4DIP_uc001elv.3_Missense_Mutation_p.S48L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1041 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTGGGACACTGAGGAGAATCC 0.537 T PDGFRB MPD 7 187 --- --- --- --- PASS TARS2 80222 broad.mit.edu 37 1 150478153 150478153 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:150478153C>T uc001euq.2 + 17 1987 c.1980C>T c.(1978-1980)GCC>GCT p.A660A TARS2_uc001eur.2_Silent_p.A578A|TARS2_uc009wlt.2_Silent_p.A286A|TARS2_uc009wls.2_Silent_p.A530A|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 660 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TCCGCCGGGCCCAGCTTGCCC 0.557 31 119 --- --- --- --- PASS DCST1 149095 broad.mit.edu 37 1 155019728 155019728 + Nonsense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:155019728C>T uc001fgn.1 + 14 1648 c.1552C>T c.(1552-1554)CGA>TGA p.R518* DCST1_uc010pes.1_Nonsense_Mutation_p.R493*|uc001fgo.2_Intron NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 518 Extracellular (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCGGCTTCTTCGAAAAACCAT 0.547 4 109 --- --- --- --- PASS MTX1 4580 broad.mit.edu 37 1 155180394 155180394 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:155180394G>C uc001fjb.2 + 3 760 c.654G>C c.(652-654)AAG>AAC p.K218N RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Missense_Mutation_p.K218N NM_002455 NP_002446 Q13505 MTX1_HUMAN metaxin 1 isoform 1 218 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding skin(1) 1 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TTCCACACAAGATCATCACCC 0.438 9 215 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155348296 155348296 + Nonsense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:155348296G>C uc009wqq.2 - 9 6716 c.6236C>G c.(6235-6237)TCA>TGA p.S2079* RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Nonsense_Mutation_p.S2074* NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2079 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTACTCACTTGAACGAATTTT 0.338 5 109 --- --- --- --- PASS KIAA0907 22889 broad.mit.edu 37 1 155891183 155891183 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:155891183G>C uc001fmi.1 - 10 1273 c.1249C>G c.(1249-1251)CCA>GCA p.P417A KIAA0907_uc001fmj.1_Missense_Mutation_p.P417A|KIAA0907_uc009wrk.1_Missense_Mutation_p.P274A|KIAA0907_uc009wrl.1_RNA|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Missense_Mutation_p.S383C NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 417 Pro-rich. 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GTGCTAGCTGGAGGCTGCACT 0.478 3 115 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157738268 157738268 + Nonsense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:157738268A>T uc001fre.2 - 5 878 c.819T>A c.(817-819)TAT>TAA p.Y273* FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Nonsense_Mutation_p.Y273*|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 273 Ig-like C2-type 3.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTCTACAGTAATATTTGCCGG 0.493 40 190 --- --- --- --- PASS VANGL2 57216 broad.mit.edu 37 1 160385679 160385679 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:160385679C>T uc001fwb.1 + 3 351 c.52C>T c.(52-54)CGC>TGC p.R18C VANGL2_uc001fwc.1_Missense_Mutation_p.R18C NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 18 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGCCACTCCCGCAGCTCCCG 0.672 7 66 --- --- --- --- PASS CD84 8832 broad.mit.edu 37 1 160523878 160523878 + Silent SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:160523878A>G uc001fwh.3 - 3 471 c.447T>C c.(445-447)TGT>TGC p.C149C CD84_uc001fwf.3_Silent_p.C149C|CD84_uc001fwg.3_Silent_p.C149C|CD84_uc009wtn.2_Silent_p.C149C|CD84_uc001fwi.3_Silent_p.C35C|CD84_uc001fwj.2_Silent_p.C149C|CD84_uc001fwk.2_Silent_p.C149C NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 149 Extracellular (Potential).|Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GTGTGACATTACAGGTGCTGT 0.403 49 72 --- --- --- --- PASS ADCY10 55811 broad.mit.edu 37 1 167847723 167847723 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:167847723G>C uc001ger.2 - 12 1665 c.1367C>G c.(1366-1368)TCT>TGT p.S456C ADCY10_uc009wvk.2_Missense_Mutation_p.S364C|ADCY10_uc010plj.1_Missense_Mutation_p.S303C|ADCY10_uc009wvl.2_Missense_Mutation_p.S455C NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 456 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CAATGGTCCAGAATCTGCAAC 0.408 14 124 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169497285 169497285 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:169497285G>C uc001ggg.1 - 17 5612 c.5467C>G c.(5467-5469)CAA>GAA p.Q1823E NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1823 F5/8 type A 3.|Plastocyanin-like 6. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ACCCACTCTTGCTCATACATT 0.458 4 94 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176640118 176640118 + Silent SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:176640118T>C uc001gkz.2 + 4 3168 c.2004T>C c.(2002-2004)AGT>AGC p.S668S PAPPA2_uc001gky.1_Silent_p.S668S|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 668 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CATACATGAGTGTGAAGGAGC 0.483 115 220 --- --- --- --- PASS CDC73 79577 broad.mit.edu 37 1 193111196 193111196 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:193111196G>T uc001gtb.2 + 7 972 c.729G>T c.(727-729)AAG>AAT p.K243N NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 243 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 GCACAGGAAAGGTAATTAAAA 0.398 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 6 31 --- --- --- --- PASS KIF21B 23046 broad.mit.edu 37 1 200955982 200955982 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:200955982G>A uc001gvs.1 - 26 3996 c.3679C>T c.(3679-3681)CAG>TAG p.Q1227* KIF21B_uc001gvr.1_Nonsense_Mutation_p.Q1227*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.Q1227*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.Q1227* NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1227 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CTAATGGGCTGCCCTCGGTCG 0.527 13 67 --- --- --- --- PASS CYB5R1 51706 broad.mit.edu 37 1 202934595 202934595 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:202934595C>G uc001gyt.2 - 5 450 c.379G>C c.(379-381)GAG>CAG p.E127Q CYB5R1_uc010pqe.1_RNA NM_016243 NP_057327 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 127 FAD-binding FR-type. sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.141) TTCCCTCCCTCAGGAAATTTG 0.488 6 194 --- --- --- --- PASS PPFIA4 8497 broad.mit.edu 37 1 203025937 203025937 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:203025937C>A uc001gyz.2 + 6 1341 c.748C>A c.(748-750)CCC>ACC p.P250T PPFIA4_uc009xaj.2_Missense_Mutation_p.P881T|PPFIA4_uc010pqf.1_Missense_Mutation_p.P463T|PPFIA4_uc001gza.2_Missense_Mutation_p.P250T|PPFIA4_uc001gzb.1_5'UTR NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 250 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 GGGCAGCAACCCCAGCAGCAG 0.443 13 21 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216074151 216074151 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:216074151G>A uc001hku.1 - 39 7784 c.7397C>T c.(7396-7398)TCT>TTT p.S2466F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2466 Extracellular (Potential).|Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTATCTGGGAGAGCCAGGAGC 0.507 HNSCC(13;0.011) 20 204 --- --- --- --- PASS TGFB2 7042 broad.mit.edu 37 1 218578578 218578578 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:218578578G>A uc001hlm.2 + 2 1067 c.414G>A c.(412-414)GAG>GAA p.E138E TGFB2_uc001hll.2_Silent_p.E166E|TGFB2_uc001hln.2_Silent_p.E166E|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 138 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) CAGCAATGGAGAAGAATGCTT 0.423 20 413 --- --- --- --- PASS MARK1 4139 broad.mit.edu 37 1 220791715 220791715 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:220791715G>A uc001hmn.3 + 8 1213 c.616G>A c.(616-618)GAA>AAA p.E206K MARK1_uc009xdw.2_Missense_Mutation_p.E206K|MARK1_uc010pun.1_Missense_Mutation_p.E206K|MARK1_uc001hmm.3_Missense_Mutation_p.E184K NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 206 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TTTTAGTAATGAATTTACAGT 0.383 6 158 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223176858 223176858 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:223176858G>A uc001hnu.1 + 8 2266 c.2119G>A c.(2119-2121)GAA>AAA p.E707K NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 707 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AATTTTTTTCGAAAAAGTATT 0.413 29 222 --- --- --- --- PASS ENAH 55740 broad.mit.edu 37 1 225686076 225686076 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:225686076T>A uc001hpc.1 - 14 2164 c.1711A>T c.(1711-1713)ACA>TCA p.T571S ENAH_uc001hpd.1_Missense_Mutation_p.T550S|ENAH_uc001hpb.1_Missense_Mutation_p.T190S NM_001008493 NP_001008493 Q8N8S7 ENAH_HUMAN enabled homolog isoform a 571 Potential.|EVH2.|EVH2 block C. axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding ovary(1)|skin(1) 2 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) TTTAGCTTTGTTAATTCTTTT 0.264 4 66 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226827342 226827342 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:226827342C>T uc010pvo.1 - 6 2809 c.2469G>A c.(2467-2469)GTG>GTA p.V823V NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 823 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) AGTCCCGGTTCACGGTGCCGT 0.557 7 121 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226923331 226923331 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:226923331G>A uc010pvo.1 - 2 2169 c.1829C>T c.(1828-1830)TCA>TTA p.S610L ITPKB_uc001hqh.2_Missense_Mutation_p.S610L NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 610 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity p.S137del(1) ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) TTCGTAGGATGAGGAGAAGCC 0.617 5 207 --- --- --- --- PASS CDC42BPA 8476 broad.mit.edu 37 1 227300016 227300016 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:227300016C>T uc001hqr.2 - 14 2941 c.1998G>A c.(1996-1998)CTG>CTA p.L666L CDC42BPA_uc001hqs.2_Silent_p.L585L|CDC42BPA_uc009xes.2_Silent_p.L666L|CDC42BPA_uc010pvs.1_Silent_p.L666L NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 666 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) AAGATACCTTCAGTCCCTCCA 0.393 7 247 --- --- --- --- PASS TRIM11 81559 broad.mit.edu 37 1 228594100 228594100 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:228594100C>T uc001hss.2 - 1 418 c.163G>A c.(163-165)GAG>AAG p.E55K TRIM11_uc010pvx.1_Missense_Mutation_p.E55K|TRIM11_uc001hst.1_Missense_Mutation_p.E55K NM_145214 NP_660215 Q96F44 TRI11_HUMAN tripartite motif-containing 11 55 RING-type. response to virus cytoplasm|nucleus protein binding|zinc ion binding lung(3)|ovary(1) 4 Prostate(94;0.0724) TCGCGGCACTCGGGGCACGCG 0.721 7 9 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229568576 229568576 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:229568576G>A uc001htm.2 - 3 286 c.181C>T c.(181-183)CAG>TAG p.Q61* NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 61 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CTCTTGCTCTGAGCCTCGTCG 0.577 15 138 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237890482 237890482 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:237890482C>T uc001hyl.1 + 76 10941 c.10821C>T c.(10819-10821)CCC>CCT p.P3607P RYR2_uc010pya.1_Silent_p.P3P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3607 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGATGGCCCCCTTATATAATC 0.403 63 65 --- --- --- --- PASS ZNF496 84838 broad.mit.edu 37 1 247492815 247492815 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:247492815C>G uc001ico.2 - 3 531 c.66G>C c.(64-66)AGG>AGC p.R22S ZNF496_uc009xgv.2_Missense_Mutation_p.R22S|ZNF496_uc001icp.2_Missense_Mutation_p.R22S|ZNF496_uc010pyv.1_Missense_Mutation_p.R22S NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 22 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CAGGTGGGCTCCTCATTTTCC 0.647 11 185 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248366573 248366573 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:248366573C>T uc010pzg.1 + 1 204 c.204C>T c.(202-204)CTC>CTT p.L68L NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AACTGTCCCTCATGGACCTCA 0.527 148 461 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436832 248436832 + Silent SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:248436832A>G uc010pzi.1 - 1 285 c.285T>C c.(283-285)TGT>TGC p.C95C NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 95 Extracellular (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) TCTGCACACCACAGCCAGCGC 0.582 20 287 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248550988 248550988 + Missense_Mutation SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr1:248550988T>C uc001iei.1 + 1 79 c.79T>C c.(79-81)TTT>CTT p.F27L NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 27 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|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;0.0265) CTCAGGATTCTTTTTCGGTGT 0.443 79 85 --- --- --- --- PASS ITSN2 50618 broad.mit.edu 37 2 24480961 24480961 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:24480961C>T uc002rfe.2 - 23 2942 c.2684G>A c.(2683-2685)GGA>GAA p.G895E ITSN2_uc002rff.2_Missense_Mutation_p.G868E|ITSN2_uc002rfg.2_Missense_Mutation_p.G895E|ITSN2_uc002rfh.1_RNA NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 895 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACCACTTGTCCCTATGAATA 0.353 44 40 --- --- --- --- PASS ADCY3 109 broad.mit.edu 37 2 25141765 25141765 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:25141765C>G uc002rfs.3 - 1 291 c.92G>C c.(91-93)GGG>GCG p.G31A ADCY3_uc010ykm.1_Missense_Mutation_p.G31A NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 31 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCGGCCCACCCCGCGGTCAGG 0.552 27 19 --- --- --- --- PASS CENPA 1058 broad.mit.edu 37 2 27015048 27015048 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:27015048G>C uc002rhr.2 + 2 333 c.150G>C c.(148-150)GAG>GAC p.E50D CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Missense_Mutation_p.E50D NM_001809 NP_001800 P49450 CENPA_HUMAN centromere protein A isoform a 50 H3-like. CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome chromatin binding|DNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCTAAAGGAGATCCGAAAGC 0.547 4 74 --- --- --- --- PASS SLC30A3 7781 broad.mit.edu 37 2 27481676 27481676 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:27481676C>A uc002rjk.2 - 2 408 c.222G>T c.(220-222)AGG>AGT p.R74S SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.R69S NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 74 Cytoplasmic (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATATAGCTGCCTCCGTGCAT 0.602 29 82 --- --- --- --- PASS NRBP1 29959 broad.mit.edu 37 2 27657418 27657418 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:27657418G>C uc002rko.2 + 6 1348 c.516G>C c.(514-516)ATG>ATC p.M172I NRBP1_uc002rkq.2_Missense_Mutation_p.M172I|NRBP1_uc002rkp.2_Missense_Mutation_p.M172I|NRBP1_uc002rkr.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 172 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) ACAAGACGATGAATGAAAAGG 0.408 15 157 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32449811 32449811 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:32449811G>A uc002roi.2 - 9 3052 c.2806C>T c.(2806-2808)CTG>TTG p.L936L NLRC4_uc002roj.1_Silent_p.L936L|NLRC4_uc010ezt.1_Silent_p.L271L NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 936 LRR 12. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AAGTTTTTCAGAGGGTTCTTT 0.338 14 57 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32734914 32734914 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:32734914G>T uc010ezu.2 + 52 10224 c.10090G>T c.(10090-10092)GCC>TCC p.A3364S NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3364 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GACTTGTGCGGCCTTATTGAT 0.448 71 225 --- --- --- --- PASS VIT 5212 broad.mit.edu 37 2 37002179 37002179 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:37002179C>G uc002rpl.2 + 9 992 c.771C>G c.(769-771)TTC>TTG p.F257L VIT_uc002rpm.2_Missense_Mutation_p.F250L|VIT_uc010ezv.2_Intron|VIT_uc010ezw.2_Missense_Mutation_p.F250L NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 257 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) GAGCTGCCTTCCAGAAACCTG 0.507 13 109 --- --- --- --- PASS PPM1B 5495 broad.mit.edu 37 2 44428720 44428720 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:44428720G>C uc002rtt.2 + 2 810 c.382G>C c.(382-384)GAC>CAC p.D128H PPM1B_uc002rts.2_Missense_Mutation_p.D128H|PPM1B_uc002rtu.2_Missense_Mutation_p.D128H|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.D128H|PPM1B_uc002rtx.2_Missense_Mutation_p.D128H NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 128 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AAACGGGATGGACAGGAGTGG 0.393 9 120 --- --- --- --- PASS MTIF2 4528 broad.mit.edu 37 2 55490959 55490959 + Silent SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:55490959T>A uc002ryn.2 - 5 773 c.36A>T c.(34-36)CTA>CTT p.L12L MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Silent_p.L12L|MTIF2_uc002ryp.1_RNA NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 12 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 TGTGAAATCGTAGCAAGTTCT 0.363 47 216 --- --- --- --- PASS VRK2 7444 broad.mit.edu 37 2 58275961 58275961 + Splice_Site SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:58275961G>C uc002rzo.2 + 5 741 c.-4_splice c.e5-1 VRK2_uc010fcb.2_Splice_Site|VRK2_uc002rzs.2_Splice_Site|VRK2_uc002rzr.2_Splice_Site|VRK2_uc010fcc.2_Splice_Site|VRK2_uc002rzv.2_Splice_Site|VRK2_uc010fcd.2_Intron|VRK2_uc002rzp.2_Splice_Site|VRK2_uc010ypg.1_Splice_Site|VRK2_uc002rzq.2_Splice_Site|VRK2_uc002rzu.2_Splice_Site|VRK2_uc002rzt.2_Splice_Site NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 TCTGCCAACAGAAGTGATGCC 0.383 4 67 --- --- --- --- PASS KIAA1841 84542 broad.mit.edu 37 2 61297594 61297594 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:61297594G>A uc002saw.3 + 3 412 c.109G>A c.(109-111)GAA>AAA p.E37K KIAA1841_uc002sax.3_5'UTR|KIAA1841_uc002say.2_Missense_Mutation_p.E37K|KIAA1841_uc002sav.3_Missense_Mutation_p.E37K NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 37 0 Epithelial(17;0.193) TATCAACTGGGAAACTATAGC 0.368 31 117 --- --- --- --- PASS UGP2 7360 broad.mit.edu 37 2 64113547 64113547 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:64113547G>C uc002scm.2 + 7 1252 c.946G>C c.(946-948)GAC>CAC p.D316H UGP2_uc002scl.2_Missense_Mutation_p.D305H|UGP2_uc010ypx.1_Missense_Mutation_p.D325H NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 316 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 AGCACATGTAGACGAGTTCAA 0.408 7 219 --- --- --- --- PASS SERTAD2 9792 broad.mit.edu 37 2 64863520 64863520 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:64863520G>C uc002sde.1 - 2 783 c.486C>G c.(484-486)CTC>CTG p.L162L NM_014755 NP_055570 Q14140 SRTD2_HUMAN SERTA domain containing 2 162 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus 0 TTTCTGGCAAGAGGGCTGGAG 0.617 9 108 --- --- --- --- PASS NAGK 55577 broad.mit.edu 37 2 71305464 71305464 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:71305464G>A uc002shp.3 + 10 1267 c.861G>A c.(859-861)CTG>CTA p.L287L NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Silent_p.L138L|NAGK_uc002shr.2_Silent_p.L236L NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 287 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) TTCTGGCGCTGACCCAGGGCA 0.582 11 63 --- --- --- --- PASS SPR 6697 broad.mit.edu 37 2 73115537 73115537 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:73115537C>T uc002sik.2 + 2 449 c.399C>T c.(397-399)TGC>TGT p.C133C NM_003124 NP_003115 P35270 SPRE_HUMAN sepiapterin reductase 133 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity ovary(2) 2 CCATGCTCTGCCTGACTTCCA 0.547 OREG0014704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 82 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73829327 73829327 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:73829327C>G uc002sje.1 + 22 12244 c.12133C>G c.(12133-12135)CAC>GAC p.H4045D ALMS1_uc002sjf.1_Missense_Mutation_p.H4001D|ALMS1_uc002sjh.1_Missense_Mutation_p.H3431D NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4043 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GCTTCAGTTTCACAGACCTGA 0.483 10 39 --- --- --- --- PASS SEMA4F 10505 broad.mit.edu 37 2 74901714 74901714 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:74901714G>T uc002sna.1 + 8 1023 c.912G>T c.(910-912)CGG>CGT p.R304R SEMA4F_uc010ffq.1_Silent_p.R271R|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.R149R NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 304 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 AGCATGGCCGGGCCTCCAGTG 0.602 78 79 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746836 77746836 + Silent SNP T G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:77746836T>G uc002snr.2 - 3 574 c.159A>C c.(157-159)GCA>GCC p.A53A LRRTM4_uc002snq.2_Silent_p.A53A|LRRTM4_uc002sns.2_Silent_p.A53A|LRRTM4_uc002snt.2_Silent_p.A54A NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 53 Extracellular (Potential).|LRRNT. integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CAGGGATATCTGCGAAAGCAT 0.468 58 51 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79312344 79312344 + Nonstop_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:79312344A>T uc002sny.2 - 6 611 c.499T>A c.(499-501)TAG>AAG p.*167K NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 167 cell proliferation extracellular region sugar binding p.*167*(1) central_nervous_system(1)|skin(1) 2 AGCTTCCTCTAGTTTTTGAAC 0.378 15 63 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385464 79385464 + Silent SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:79385464A>G uc002sod.1 - 3 576 c.321T>C c.(319-321)CAT>CAC p.H107H REG3A_uc002soe.1_Silent_p.H107H|REG3A_uc002sof.1_Silent_p.H107H NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 107 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GTGTGGGGTCATGGAGCCCAA 0.572 29 36 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80816495 80816495 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:80816495C>G uc010ysh.1 + 14 2079 c.2074C>G c.(2074-2076)CAA>GAA p.Q692E CTNNA2_uc010yse.1_Missense_Mutation_p.Q692E|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q692E|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q692E|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q324E|CTNNA2_uc010ysj.1_Missense_Mutation_p.Q21E NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 692 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GATATTCCATCAAGAGAAAAG 0.488 12 61 --- --- --- --- PASS TGOLN2 10618 broad.mit.edu 37 2 85554352 85554352 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:85554352G>A uc010fgd.1 - 2 792 c.503C>T c.(502-504)TCA>TTA p.S168L TGOLN2_uc002soz.2_Missense_Mutation_p.S168L|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.S168L|TGOLN2_uc002spc.1_Missense_Mutation_p.S168L NM_006464 NP_006455 O43493 TGON2_HUMAN trans-golgi network protein 2 168 Extracellular (Potential).|14 X 14 AA tandem repeats.|9. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding 0 CTCCGAACCTGACTTGCTAGG 0.607 90 397 --- --- --- --- PASS ST3GAL5 8869 broad.mit.edu 37 2 86090519 86090519 + Nonsense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:86090519T>A uc002sqq.1 - 2 301 c.172A>T c.(172-174)AGA>TGA p.R58* ST3GAL5_uc010ysy.1_Nonsense_Mutation_p.R58*|ST3GAL5_uc010ysz.1_Nonsense_Mutation_p.R58*|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Nonsense_Mutation_p.R35* NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 58 Cytoplasmic (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 CTGGGCCTTCTCATCTTGCTT 0.483 34 63 --- --- --- --- PASS POU3F3 5455 broad.mit.edu 37 2 105473021 105473021 + Nonsense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:105473021C>A uc010ywg.1 + 1 1053 c.1053C>A c.(1051-1053)TAC>TAA p.Y351* NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 351 POU-specific. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 GCACACTCTACGGCAACGTGT 0.622 39 57 --- --- --- --- PASS TGFBRAP1 9392 broad.mit.edu 37 2 105915078 105915078 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:105915078G>A uc002tcq.2 - 3 857 c.773C>T c.(772-774)CCA>CTA p.P258L TGFBRAP1_uc010fjc.2_Missense_Mutation_p.P28L|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.P258L NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 258 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 TATGACGTATGGAAAGGACAC 0.537 8 88 --- --- --- --- PASS SULT1C2 6819 broad.mit.edu 37 2 108921111 108921111 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:108921111C>A uc002tdy.2 + 5 910 c.457C>A c.(457-459)CCT>ACT p.P153T SULT1C2_uc010ywp.1_Missense_Mutation_p.P68T|SULT1C2_uc002tdx.2_Missense_Mutation_p.P164T|SULT1C2_uc010ywq.1_Missense_Mutation_p.P167T NM_001056 NP_001047 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 1 153 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity ovary(1) 1 GCTTCCTGACCCTGGTACCTG 0.453 31 126 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109380371 109380371 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:109380371C>T uc002tem.3 + 20 3502 c.3376C>T c.(3376-3378)CGG>TGG p.R1126W NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1126 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TTCTGGTTTTCGGCGAAGTGA 0.403 17 100 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109383184 109383184 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:109383184C>G uc002tem.3 + 20 6315 c.6189C>G c.(6187-6189)CTC>CTG p.L2063L NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2063 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TAAAAATTCTCAAAAACGAGG 0.388 139 316 --- --- --- --- PASS CXCR4 7852 broad.mit.edu 37 2 136873426 136873426 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:136873426C>T uc002tuz.2 - 2 167 c.72G>A c.(70-72)ATG>ATA p.M24I CXCR4_uc002tuy.2_Missense_Mutation_p.M28I|CXCR4_uc010fnk.2_Missense_Mutation_p.M9I NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 24 Extracellular. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) AGGGTTCCTTCATGGAGTCAT 0.428 37 97 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141032120 141032120 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:141032120C>A uc002tvj.1 - 85 13987 c.13015G>T c.(13015-13017)GAT>TAT p.D4339Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4339 Extracellular (Potential).|EGF-like 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTCCATCATCCCCAATGGTA 0.408 TSP Lung(27;0.18) 13 67 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141272243 141272243 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:141272243C>G uc002tvj.1 - 51 9220 c.8248G>C c.(8248-8250)GAT>CAT p.D2750H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2750 Extracellular (Potential).|LDL-receptor class A 16. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCACTTTCATCTAACCCATCC 0.353 TSP Lung(27;0.18) 21 54 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152544034 152544034 + Nonsense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:152544034T>A uc010fnx.2 - 27 2727 c.2536A>T c.(2536-2538)AAA>TAA p.K846* NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 846 Nebulin 19. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCATAGTCTTTCTTGTACATC 0.502 9 149 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152544035 152544035 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:152544035C>T uc010fnx.2 - 27 2726 c.2535G>A c.(2533-2535)AAG>AAA p.K845K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 845 Nebulin 19. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CATAGTCTTTCTTGTACATCA 0.507 10 146 --- --- --- --- PASS CYBRD1 79901 broad.mit.edu 37 2 172398276 172398276 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:172398276G>C uc002ugy.3 + 2 565 c.375G>C c.(373-375)CTG>CTC p.L125L CYBRD1_uc002ugz.3_Intron NM_024843 NP_079119 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 isoform 1 125 Helical; Name=4; (Potential).|Cytochrome b561. cellular iron ion homeostasis|electron transport chain|transmembrane transport integral to membrane ferric-chelate reductase activity|metal ion binding 0 GGGTTGGACTGATAGCTGTCA 0.353 14 83 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178936577 178936577 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:178936577C>T uc002ulq.2 - 1 906 c.588G>A c.(586-588)CTG>CTA p.L196L PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 196 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TATGCTTTTTCAGATGGCACT 0.498 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 31 92 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179425922 179425922 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:179425922C>G uc010zfg.1 - 275 77457 c.77233G>C c.(77233-77235)GAA>CAA p.E25745Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19440Q|TTN_uc010zfi.1_Missense_Mutation_p.E19373Q|TTN_uc010zfj.1_Missense_Mutation_p.E19248Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26672 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) TCAGTTACTTCAAAGTATGTT 0.428 9 73 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179477509 179477509 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:179477509C>G uc010zfg.1 - 214 42459 c.42235G>C c.(42235-42237)GAG>CAG p.E14079Q uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7774Q|TTN_uc010zfi.1_Missense_Mutation_p.E7707Q|TTN_uc010zfj.1_Missense_Mutation_p.E7582Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15006 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) CATAGCTTCTCCCGGCAAAGC 0.423 7 35 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179591986 179591986 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:179591986G>T uc010zfg.1 - 66 16598 c.16374C>A c.(16372-16374)TTC>TTA p.F5458L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F2119L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6385 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) GTTCATTTCGGAACCACACAA 0.423 21 46 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179604792 179604792 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:179604792C>G uc010zfh.1 - 46 12879 c.12655G>C c.(12655-12657)GAG>CAG p.E4219Q TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4152Q|TTN_uc010zfj.1_Missense_Mutation_p.E4027Q|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 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) AATCTCTGCTCTTCTGGAATA 0.468 26 61 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189922123 189922123 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:189922123C>T uc002uqk.2 - 34 2535 c.2260G>A c.(2260-2262)GAT>AAT p.D754N COL5A2_uc010frx.2_Missense_Mutation_p.D330N NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 754 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGGCCTGTATCTCCAGGGGTC 0.393 6 93 --- --- --- --- PASS ANKAR 150709 broad.mit.edu 37 2 190569858 190569858 + Silent SNP G A A rs145408486 byFrequency TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:190569858G>A uc002uqw.1 + 7 1605 c.1605G>A c.(1603-1605)CCG>CCA p.P535P ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 606 ANK 3. integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GCTGGATGCCGATTCACTTTG 0.443 40 79 --- --- --- --- PASS FAM126B 285172 broad.mit.edu 37 2 201846388 201846388 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:201846388G>A uc002uws.3 - 12 1386 c.1198C>T c.(1198-1200)CGA>TGA p.R400* FAM126B_uc002uwu.2_Nonsense_Mutation_p.R374*|FAM126B_uc002uwv.2_Nonsense_Mutation_p.R400* NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 400 intracellular ovary(1) 1 ACTGAATCTCGAGGGCTCTCA 0.483 9 64 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202611303 202611303 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:202611303G>C uc002uyo.2 - 9 2340 c.1984C>G c.(1984-1986)CTC>GTC p.L662V ALS2_uc002uyp.3_Missense_Mutation_p.L662V|ALS2_uc002uyq.2_Missense_Mutation_p.L662V|ALS2_uc010ftl.2_5'Flank NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 662 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 CTACAGGAGAGAAGTACTGGA 0.418 40 225 --- --- --- --- PASS ADAM23 8745 broad.mit.edu 37 2 207412171 207412171 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:207412171C>A uc002vbq.2 + 7 962 c.739C>A c.(739-741)CAT>AAT p.H247N ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 247 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGTCGACCACATATAATCCA 0.343 4 52 --- --- --- --- PASS CRYGD 1421 broad.mit.edu 37 2 208986547 208986547 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:208986547G>T uc002vcn.3 - 3 491 c.375C>A c.(373-375)AAC>AAA p.N125K NM_006891 NP_008822 P07320 CRGD_HUMAN crystallin, gamma D 125 Beta/gamma crystallin 'Greek key' 3. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CCTCCAGCACGTTGAGGGAGT 0.572 28 84 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210545504 210545504 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:210545504C>G uc002vde.1 + 6 655 c.407C>G c.(406-408)TCT>TGT p.S136C MAP2_uc002vdc.1_Missense_Mutation_p.S136C|MAP2_uc002vdd.1_Missense_Mutation_p.S136C|MAP2_uc002vdf.1_Missense_Mutation_p.S136C|MAP2_uc002vdg.1_Missense_Mutation_p.S136C|MAP2_uc002vdh.1_Missense_Mutation_p.S136C|MAP2_uc002vdi.1_Missense_Mutation_p.S136C NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 136 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTGCCTCCTTCTCCACCCCCA 0.418 47 227 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220162692 220162692 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:220162692C>T uc002vkz.2 - 13 1891 c.1802G>A c.(1801-1803)CGG>CAG p.R601Q PTPRN_uc010zlc.1_Missense_Mutation_p.R511Q|PTPRN_uc002vla.2_Missense_Mutation_p.R572Q NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 601 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CGCATGCTGCCGCACACACAG 0.667 10 29 --- --- --- --- PASS SERPINE2 5270 broad.mit.edu 37 2 224862912 224862912 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:224862912C>T uc002vnu.2 - 3 650 c.407G>A c.(406-408)TGT>TAT p.C136Y SERPINE2_uc002vnt.2_Missense_Mutation_p.C136Y|SERPINE2_uc010zlr.1_Missense_Mutation_p.C148Y|SERPINE2_uc002vnv.2_Missense_Mutation_p.C136Y NM_006216 NP_006207 P07093 GDN_HUMAN plasminogen activator inhibitor type 1, member 2 136 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|ovary(1)|central_nervous_system(1) 4 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) CCGGACCTCACACTGGAACAC 0.448 10 69 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225422481 225422481 + Missense_Mutation SNP A C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:225422481A>C uc002vny.2 - 2 543 c.159T>G c.(157-159)AGT>AGG p.S53R CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Missense_Mutation_p.S59R NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 53 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) GCTCCTCAAAACTAAGACCAC 0.353 7 48 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228886480 228886480 + Missense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:228886480A>T uc002vpq.2 - 6 691 c.644T>A c.(643-645)CTC>CAC p.L215H SPHKAP_uc002vpp.2_Missense_Mutation_p.L215H|SPHKAP_uc010zlx.1_Missense_Mutation_p.L215H NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 215 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGAAGCGGTGAGAAAGTCTTC 0.478 21 75 --- --- --- --- PASS RAB17 64284 broad.mit.edu 37 2 238486673 238486673 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:238486673G>A uc002vwz.1 - 3 927 c.283C>T c.(283-285)CTT>TTT p.L95F RAB17_uc002vxa.1_RNA|RAB17_uc002vxb.1_Intron NM_022449 NP_071894 Q9H0T7 RAB17_HUMAN RAB17, member RAS oncogene family 95 protein transport|small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|protein binding 0 Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221) Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026) TACACCAGAAGCGCAGCGTTG 0.592 10 93 --- --- --- --- PASS TRAF3IP1 26146 broad.mit.edu 37 2 239237975 239237975 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:239237975G>A uc002vye.2 + 5 1026 c.907G>A c.(907-909)GAG>AAG p.E303K TRAF3IP1_uc002vyf.2_Missense_Mutation_p.E303K NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 303 Abolishes microtubules-binding when missing.|DISC1-interaction domain. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) TGACAAACCTGAGAAAAAGGT 0.323 4 71 --- --- --- --- PASS OR6B2 389090 broad.mit.edu 37 2 240968926 240968926 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr2:240968926C>A uc002vyr.2 - 2 967 c.921G>T c.(919-921)TTG>TTT p.L307F OR6B2_uc010zoc.1_Missense_Mutation_p.L307F NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) AAGTTTGACCCAAGCCCAAGG 0.388 37 106 --- --- --- --- PASS CIDEC 63924 broad.mit.edu 37 3 9908844 9908844 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:9908844G>C uc003btq.2 - 6 831 c.691C>G c.(691-693)CCG>GCG p.P231A CIDEC_uc003bto.2_RNA|CIDEC_uc010hcp.2_Missense_Mutation_p.P115R|CIDEC_uc003btp.2_Missense_Mutation_p.P241A|CIDEC_uc003btr.2_Missense_Mutation_p.P157A|CIDEC_uc003bts.2_Missense_Mutation_p.P157A NM_022094 NP_071377 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c 231 apoptosis|induction of apoptosis cytosol|focal adhesion|nucleus central_nervous_system(1) 1 Medulloblastoma(99;0.227) AGACAGGTCGGGATAAGGGAT 0.587 41 93 --- --- --- --- PASS TATDN2 9797 broad.mit.edu 37 3 10320103 10320103 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:10320103G>C uc003bvg.2 + 6 2683 c.2102G>C c.(2101-2103)AGA>ACA p.R701T TATDN2_uc003bvf.2_Missense_Mutation_p.R701T|TATDN2_uc011atr.1_Missense_Mutation_p.R701T|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank|GHRLOS_uc011atw.1_5'Flank|GHRLOS_uc011atx.1_5'Flank|GHRLOS_uc011aty.1_5'Flank|GHRLOS_uc011atz.1_5'Flank|GHRLOS_uc011aua.1_5'Flank|GHRLOS_uc010hdl.2_5'Flank|GHRLOS_uc011aub.1_5'Flank|GHRLOS_uc010hdm.2_5'Flank|GHRLOS_uc011auc.1_5'Flank|GHRLOS_uc011aud.1_5'Flank|GHRLOS_uc011aue.1_5'Flank|GHRLOS_uc011auf.1_5'Flank|GHRLOS_uc011aug.1_5'Flank NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 701 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 CCACTGGAGAGAATCATCGTG 0.597 7 211 --- --- --- --- PASS SYN2 6854 broad.mit.edu 37 3 12192811 12192811 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:12192811C>T uc003bwm.2 + 9 923 c.759C>T c.(757-759)CCC>CCT p.P253P SYN2_uc003bwl.1_Silent_p.P253P|SYN2_uc003bwn.2_5'UTR NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 253 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 CATACTACCCCAACCACAAAG 0.453 11 17 --- --- --- --- PASS C3orf19 51244 broad.mit.edu 37 3 14711491 14711491 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:14711491C>G uc003byw.2 + 10 1094 c.1003C>G c.(1003-1005)CCA>GCA p.P335A C3orf19_uc010hej.2_Missense_Mutation_p.P164A NM_016474 NP_057558 Q6PII3 CC019_HUMAN hypothetical protein LOC51244 335 0 TGTGCCAACCCCACGTCCTGC 0.498 18 30 --- --- --- --- PASS DAZL 1618 broad.mit.edu 37 3 16636039 16636039 + Splice_Site SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:16636039C>T uc003cbb.2 - 8 915 c.621_splice c.e8+1 p.P207_splice DAZL_uc003cba.2_Splice_Site_p.P227_splice NM_001351 NP_001342 Q92904 DAZL_HUMAN deleted in azoospermia-like germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus nucleotide binding|protein binding|RNA binding|translation activator activity 0 ATTCACTTTACCGGAGGTACA 0.303 14 18 --- --- --- --- PASS EFHB 151651 broad.mit.edu 37 3 19921152 19921152 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:19921152C>A uc003cbl.3 - 13 2669 c.2473G>T c.(2473-2475)GAC>TAC p.D825Y EFHB_uc003cbm.2_Missense_Mutation_p.D695Y NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 825 signal transduction proteinaceous extracellular matrix calcium ion binding 0 TTGATCCGGTCTGCATGCCGT 0.338 60 113 --- --- --- --- PASS TTC21A 199223 broad.mit.edu 37 3 39178864 39178864 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:39178864A>G uc003cjc.2 + 25 3634 c.3457A>G c.(3457-3459)ATA>GTA p.I1153V TTC21A_uc003cje.2_Missense_Mutation_p.I1154V|TTC21A_uc003cjd.2_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.I1105V|TTC21A_uc003cjf.2_Missense_Mutation_p.I274V NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 1153 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTTCATCCAGATAGCGCAGGC 0.667 12 19 --- --- --- --- PASS CCR9 10803 broad.mit.edu 37 3 45943155 45943155 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:45943155C>T uc003coz.1 + 3 1032 c.875C>T c.(874-876)TCC>TTC p.S292F LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.S280F|CCR9_uc003cpa.1_Missense_Mutation_p.S280F NM_031200 NP_112477 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 isoform A 292 Extracellular (Potential). cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) TGTGCCGTTTCCACCAACATT 0.498 7 89 --- --- --- --- PASS PLXNB1 5364 broad.mit.edu 37 3 48459365 48459365 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:48459365C>G uc003csw.2 - 16 3599 c.3329G>C c.(3328-3330)GGA>GCA p.G1110A PLXNB1_uc003csu.2_Missense_Mutation_p.G927A|PLXNB1_uc003csx.2_Missense_Mutation_p.G1110A|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1110 IPT/TIG 1.|Extracellular (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACAGGGCACTCCAGCCACCGT 0.667 8 46 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48665951 48665951 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:48665951G>A uc003cuf.1 - 52 11931 c.11931C>T c.(11929-11931)CTC>CTT p.L3977L SLC26A6_uc003cug.2_Silent_p.L551L|SLC26A6_uc003cuh.2_Silent_p.L572L|SLC26A6_uc010hke.2_Silent_p.L423L|SLC26A6_uc003cuk.2_Silent_p.L465L|SLC26A6_uc003cui.2_Silent_p.L572L|SLC26A6_uc003cuj.2_Silent_p.L572L|SLC26A6_uc011bbp.1_Silent_p.L536L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTGGGAGATGAGGAAGTCGA 0.552 11 117 --- --- --- --- PASS TRAIP 10293 broad.mit.edu 37 3 49885009 49885009 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:49885009G>C uc003cxs.1 - 3 295 c.189C>G c.(187-189)TTC>TTG p.F63L TRAIP_uc010hla.1_Missense_Mutation_p.F63L|TRAIP_uc011bcx.1_Missense_Mutation_p.F63L NM_005879 NP_005870 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 63 cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAAGATCAAAGAAGAGCTTAT 0.438 7 164 --- --- --- --- PASS RBM6 10180 broad.mit.edu 37 3 50004983 50004983 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:50004983G>C uc003cyc.2 + 3 258 c.125G>C c.(124-126)AGA>ACA p.R42T RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 42 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GCTCAAGAGAGACACTCTGGC 0.493 16 87 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112349095 112349095 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:112349095C>G uc003dzf.2 - 3 2118 c.1900G>C c.(1900-1902)GAG>CAG p.E634Q CCDC80_uc011bhv.1_Missense_Mutation_p.E634Q|CCDC80_uc003dzg.2_Missense_Mutation_p.E634Q|CCDC80_uc003dzh.1_Missense_Mutation_p.E634Q NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 634 ovary(2) 2 ATATTGTTCTCAGCCTTGGGA 0.423 10 118 --- --- --- --- PASS DRD3 1814 broad.mit.edu 37 3 113847578 113847578 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:113847578C>G uc003ebd.2 - 8 1611 c.1188G>C c.(1186-1188)AAG>AAC p.K396N DRD3_uc010hqn.1_Missense_Mutation_p.K396N|DRD3_uc003ebb.1_Missense_Mutation_p.K363N|DRD3_uc003ebc.1_Missense_Mutation_p.K396N NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 396 Cytoplasmic. K -> L (in Ref. 7; AAH95510). activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AAGACAGGATCTTGAGGAAGG 0.527 163 378 --- --- --- --- PASS C3orf1 51300 broad.mit.edu 37 3 119222385 119222385 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:119222385G>C uc003ecn.2 + 3 580 c.367G>C c.(367-369)GCA>CCA p.A123P C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 123 integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) TTAGCAATCTGCACATCGTGC 0.408 7 18 --- --- --- --- PASS HGD 3081 broad.mit.edu 37 3 120365209 120365209 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:120365209C>A uc003edw.2 - 9 924 c.554G>T c.(553-555)GGA>GTA p.G185V HGD_uc003edv.2_Missense_Mutation_p.G44V NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 185 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) GAACCGCATTCCTCTCTGGAA 0.483 6 110 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124385400 124385400 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:124385400C>T uc003ehg.2 + 46 6574 c.6447C>T c.(6445-6447)CTC>CTT p.L2149L KALRN_uc003ehi.2_Silent_p.L490L|KALRN_uc003ehk.2_Silent_p.L452L|KALRN_uc011bjz.1_Silent_p.L241L NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2148 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GCGTGTTCCTCTTCGAGCAGA 0.542 14 80 --- --- --- --- PASS RHO 6010 broad.mit.edu 37 3 129249756 129249756 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:129249756C>T uc003emt.2 + 2 494 c.399C>T c.(397-399)ATC>ATT p.I133I NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 133 Helical; Name=3; (Potential). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TCCTGGCCATCGAGCGGTACG 0.622 5 236 --- --- --- --- PASS ATP2C1 27032 broad.mit.edu 37 3 130682866 130682866 + Silent SNP G A A rs147959633 TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:130682866G>A uc003enl.2 + 13 1173 c.951G>A c.(949-951)ACG>ACA p.T317T ATP2C1_uc011blg.1_Silent_p.T351T|ATP2C1_uc011blh.1_Silent_p.T312T|ATP2C1_uc011bli.1_Silent_p.T351T|ATP2C1_uc003enk.2_Silent_p.T301T|ATP2C1_uc003enm.2_Silent_p.T317T|ATP2C1_uc003enn.2_Silent_p.T301T|ATP2C1_uc003eno.2_Silent_p.T317T|ATP2C1_uc003enp.2_Silent_p.T317T|ATP2C1_uc003enq.2_Silent_p.T317T|ATP2C1_uc003enr.2_Silent_p.T317T|ATP2C1_uc003ens.2_Silent_p.T317T|ATP2C1_uc003ent.2_Silent_p.T317T|ATP2C1_uc003enu.2_5'UTR NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 317 Cytoplasmic (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TCACAGTGACGCTAGCTCTTG 0.403 Hailey-Hailey_disease 17 197 --- --- --- --- PASS PLS1 5357 broad.mit.edu 37 3 142408474 142408474 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:142408474G>A uc010huv.2 + 10 1155 c.996G>A c.(994-996)CTG>CTA p.L332L PLS1_uc003euz.2_Silent_p.L332L|PLS1_uc003eva.2_Silent_p.L332L NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 332 Actin-binding 1.|CH 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 CAAATGACCTGAAGCGTGCTG 0.338 20 73 --- --- --- --- PASS SERP1 27230 broad.mit.edu 37 3 150263869 150263869 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:150263869G>A uc003exy.2 - 1 560 c.54C>T c.(52-54)ATC>ATT p.I18I SERP1_uc003exz.2_RNA|EIF2A_uc003eya.2_5'Flank|EIF2A_uc003eyb.2_5'Flank|EIF2A_uc003eyc.2_5'Flank|EIF2A_uc011bnv.1_5'Flank|EIF2A_uc011bnw.1_5'Flank NM_014445 NP_055260 Q9Y6X1 SERP1_HUMAN stress-associated endoplasmic reticulum protein 18 Cytoplasmic (Potential). plasma membrane organization|protein glycosylation|protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane|ribosome 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CGCGCTGGGTGATGTTCTTGC 0.677 11 131 --- --- --- --- PASS RSRC1 51319 broad.mit.edu 37 3 157839955 157839955 + Missense_Mutation SNP G A A rs143641214 byFrequency TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:157839955G>A uc003fbt.2 + 2 173 c.62G>A c.(61-63)CGT>CAT p.R21H RSRC1_uc011bou.1_Missense_Mutation_p.R21H|RSRC1_uc003fbu.1_Missense_Mutation_p.R21H|RSRC1_uc003fbv.2_Missense_Mutation_p.R21H NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 21 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAGAAACACCGTAGACGGTCC 0.388 10 36 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164786883 164786883 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:164786883A>G uc003fei.2 - 4 418 c.356T>C c.(355-357)ATG>ACG p.M119T NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 119 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTGTTGTCATGTCTTGAAC 0.378 HNSCC(35;0.089) 25 48 --- --- --- --- PASS SERPINI2 5276 broad.mit.edu 37 3 167183100 167183100 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:167183100C>G uc003fer.1 - 4 818 c.760G>C c.(760-762)GCA>CCA p.A254P SERPINI2_uc003fes.1_Missense_Mutation_p.A264P|SERPINI2_uc003fet.1_Missense_Mutation_p.A254P NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 254 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 ATACCTTCTGCAGGAAGTATG 0.343 40 229 --- --- --- --- PASS NAALADL2 254827 broad.mit.edu 37 3 175473112 175473112 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:175473112G>C uc003fit.2 + 13 2182 c.2095G>C c.(2095-2097)GAG>CAG p.E699Q NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 699 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TGATCCCAAGGAGAGAGCACC 0.493 11 44 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 182923970 182923970 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:182923970C>A uc003fli.1 - 24 2835 c.2745G>T c.(2743-2745)AGG>AGT p.R915S NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 915 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TATGGCTCCCCCTTCCAAGCT 0.423 44 161 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 183035889 183035889 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:183035889G>C uc003fli.1 - 7 810 c.720C>G c.(718-720)CTC>CTG p.L240L MCF2L2_uc003flj.1_Silent_p.L240L|MCF2L2_uc003flp.1_Silent_p.L275L NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 240 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGTGGGACATGAGAAGGTCTT 0.597 9 59 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183655773 183655773 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:183655773C>G uc003fmg.2 - 26 3935 c.3770G>C c.(3769-3771)AGA>ACA p.R1257T ABCC5_uc011bqt.1_Missense_Mutation_p.R785T|ABCC5_uc010hxl.2_Missense_Mutation_p.R1214T NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1257 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATCACTGATTCTCACTCCATC 0.532 14 180 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184631309 184631309 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:184631309G>A uc003fpb.1 + 25 2314 c.2143G>A c.(2143-2145)GAA>AAA p.E715K VPS8_uc010hyd.1_Missense_Mutation_p.E625K|VPS8_uc010hye.1_Missense_Mutation_p.E144K NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 717 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TATTTTAGATGAACAAGTTGT 0.254 11 193 --- --- --- --- PASS DNAJB11 51726 broad.mit.edu 37 3 186302269 186302269 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:186302269G>C uc003fqi.2 + 9 1123 c.903G>C c.(901-903)AAG>AAC p.K301N NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 301 protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) AGCTATGGAAGAAAGGGGAAG 0.443 4 87 --- --- --- --- PASS ATP13A5 344905 broad.mit.edu 37 3 193052756 193052756 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:193052756G>C uc011bsq.1 - 10 1076 c.1076C>G c.(1075-1077)TCT>TGT p.S359C NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 359 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CCCCTGCCCAGAGGGCTTGAC 0.463 14 167 --- --- --- --- PASS OPA1 4976 broad.mit.edu 37 3 193332589 193332589 + Missense_Mutation SNP C T T rs149756039 TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr3:193332589C>T uc003ftm.2 + 2 344 c.110C>T c.(109-111)TCA>TTA p.S37L OPA1_uc003ftg.2_Missense_Mutation_p.S37L|OPA1_uc003fth.2_Missense_Mutation_p.S37L|OPA1_uc003fti.2_Missense_Mutation_p.S37L|OPA1_uc003ftj.2_Missense_Mutation_p.S37L|OPA1_uc003ftk.2_Missense_Mutation_p.S37L|OPA1_uc003ftl.2_Missense_Mutation_p.S37L|OPA1_uc003ftn.2_Missense_Mutation_p.S37L NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 37 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CATCTGGTTTCACGAAGCATT 0.303 21 85 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42558042 42558042 + Silent SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:42558042A>G uc003gwr.2 - 16 1588 c.1356T>C c.(1354-1356)TTT>TTC p.F452F ATP8A1_uc003gws.2_Silent_p.F437F|ATP8A1_uc011byz.1_Silent_p.F437F NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 452 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TTTCATCTCCAAACTGTGAGT 0.318 6 28 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46099262 46099262 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:46099262G>A uc003gxb.2 - 2 361 c.209C>T c.(208-210)TCA>TTA p.S70L NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 70 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTGAAGCAATGAATTCAGAAT 0.383 49 123 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49009279 49009279 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:49009279G>A uc003gyv.2 + 8 1304 c.1122G>A c.(1120-1122)TTG>TTA p.L374L CWH43_uc011bzl.1_Silent_p.L347L NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 374 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 ACCTTGACTTGCTTCTTCAAA 0.284 19 33 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55964928 55964928 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:55964928C>A uc003has.2 - 16 2611 c.2309G>T c.(2308-2310)GGC>GTC p.G770V KDR_uc003hat.1_Missense_Mutation_p.G770V NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 770 Helical; (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CACCGCCGTGCCTACTAGAAT 0.413 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 33 101 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55964929 55964929 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:55964929C>A uc003has.2 - 16 2610 c.2308G>T c.(2308-2310)GGC>TGC p.G770C KDR_uc003hat.1_Missense_Mutation_p.G770C NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 770 Helical; (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACCGCCGTGCCTACTAGAATA 0.408 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 32 101 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62598726 62598726 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:62598726G>T uc010ihh.2 + 5 822 c.649G>T c.(649-651)GCT>TCT p.A217S LPHN3_uc003hcq.3_Missense_Mutation_p.A217S|LPHN3_uc010ihg.1_Missense_Mutation_p.A285S|LPHN3_uc003hcs.1_Missense_Mutation_p.A46S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 217 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GTATGATGGAGCTTTGTTCTT 0.438 20 45 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79391175 79391175 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:79391175C>T uc003hlb.2 + 51 7741 c.7301C>T c.(7300-7302)CCG>CTG p.P2434L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2433 CSPG 12.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GACATCCTCCCGGTAGATGAT 0.507 9 34 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79391176 79391176 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:79391176G>T uc003hlb.2 + 51 7742 c.7302G>T c.(7300-7302)CCG>CCT p.P2434P NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2433 CSPG 12.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ACATCCTCCCGGTAGATGATG 0.507 9 35 --- --- --- --- PASS DMP1 1758 broad.mit.edu 37 4 88578214 88578214 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:88578214G>T uc003hqv.2 + 3 189 c.85G>T c.(85-87)GAT>TAT p.D29Y DMP1_uc003hqw.2_Missense_Mutation_p.D29Y NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 29 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) TGAATCTGAGGATTCTGAAGA 0.254 22 35 --- --- --- --- PASS TSPAN5 10098 broad.mit.edu 37 4 99403249 99403249 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:99403249G>C uc003hub.2 - 4 707 c.357C>G c.(355-357)ATC>ATG p.I119M TSPAN5_uc011cdz.1_Missense_Mutation_p.I48M NM_005723 NP_005714 P62079 TSN5_HUMAN transmembrane 4 superfamily member 9 119 Extracellular (Potential). integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) GCTGGTCTTTGATCCAGTCTT 0.378 3 119 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134075499 134075499 + Missense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:134075499A>T uc003iha.2 + 2 3495 c.2669A>T c.(2668-2670)GAC>GTC p.D890V NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 890 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TATCTAGTTGACAGACCTCGC 0.373 12 26 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151392889 151392889 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:151392889C>T uc010ipj.2 - 44 7061 c.6587G>A c.(6586-6588)CGT>CAT p.R2196H LRBA_uc003ils.3_Missense_Mutation_p.R86H|LRBA_uc003ilt.3_Missense_Mutation_p.R844H|LRBA_uc003ilu.3_Missense_Mutation_p.R2185H NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2196 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TAATGAAATACGTCTGCAAGA 0.308 18 62 --- --- --- --- PASS TLR2 7097 broad.mit.edu 37 4 154624805 154624805 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:154624805C>T uc003inq.2 + 3 965 c.746C>T c.(745-747)TCA>TTA p.S249L TLR2_uc003inr.2_Missense_Mutation_p.S249L|TLR2_uc003ins.2_Missense_Mutation_p.S249L NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 249 Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) GAAACAAATTCATTGATTAAA 0.313 17 25 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155219363 155219363 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:155219363C>T uc003inw.2 - 18 4738 c.4738G>A c.(4738-4740)GAT>AAT p.D1580N NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1580 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AAAACTGGATCATTGTCATTA 0.443 26 32 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393542 164393542 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:164393542C>A uc003iqp.3 - 1 1506 c.1345G>T c.(1345-1347)GTT>TTT p.V449F NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 449 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGATAGAAAACAGTACAATTG 0.493 33 75 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393543 164393543 + Silent SNP A G G rs114733407 byFrequency TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:164393543A>G uc003iqp.3 - 1 1505 c.1344T>C c.(1342-1344)ACT>ACC p.T448T NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 448 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GATAGAAAACAGTACAATTGG 0.488 34 73 --- --- --- --- PASS STOX2 56977 broad.mit.edu 37 4 184931549 184931549 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:184931549G>C uc003ivz.1 + 3 2993 c.1558G>C c.(1558-1560)GAC>CAC p.D520H STOX2_uc003iwa.1_Missense_Mutation_p.D209H NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 520 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CAGCCAAGACGACCAGACCCC 0.532 9 25 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187541760 187541760 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr4:187541760C>T uc003izf.2 - 10 6168 c.5980G>A c.(5980-5982)GAG>AAG p.E1994K NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1994 Extracellular (Potential).|Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTTTCGGCCTCGGTGGAATTC 0.418 HNSCC(5;0.00058) 56 396 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1394869 1394869 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:1394869C>G uc003jck.2 - 15 1965 c.1844G>C c.(1843-1845)CGC>CCC p.R615P NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 615 Cytoplasmic (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GAGCCAGTGGCGGAGCTGGAA 0.522 43 186 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9202090 9202090 + Silent SNP G A A rs144446567 byFrequency TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:9202090G>A uc003jek.2 - 9 1621 c.909C>T c.(907-909)ATC>ATT p.I303I NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 303 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AGATGCCATAGATCAAATCCA 0.438 6 91 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21854886 21854886 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:21854886G>A uc010iuc.2 - 4 998 c.540C>T c.(538-540)CTC>CTT p.L180L CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Silent_p.L180L NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 180 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CCTTGACCTGGAGTACATATG 0.418 HNSCC(59;0.17) 10 99 --- --- --- --- PASS AMACR 23600 broad.mit.edu 37 5 33989607 33989607 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:33989607C>A uc003jig.2 - 5 822 c.740G>T c.(739-741)GGA>GTA p.G247V AMACR_uc003jih.2_Missense_Mutation_p.R193S|AMACR_uc003jii.2_Missense_Mutation_p.G232V|AMACR_uc003jij.2_Missense_Mutation_p.G247V NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 247 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 TAGTCCAAGTCCTGAGGAAAA 0.353 10 56 --- --- --- --- PASS RAI14 26064 broad.mit.edu 37 5 34796083 34796083 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:34796083C>G uc003jir.2 + 4 403 c.207C>G c.(205-207)CTC>CTG p.L69L RAI14_uc010iur.2_Silent_p.L69L|RAI14_uc011coj.1_Silent_p.L69L|RAI14_uc010ius.1_5'UTR|RAI14_uc003jis.2_Silent_p.L72L|RAI14_uc003jit.2_Silent_p.L69L|RAI14_uc011cok.1_Silent_p.L61L NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 69 ANK 2. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) TGGAATGCCTCAGGGTCATGA 0.438 7 320 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35712973 35712973 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:35712973G>T uc003jjo.2 + 20 3010 c.2899G>T c.(2899-2901)GCA>TCA p.A967S SPEF2_uc003jjp.1_Missense_Mutation_p.A453S NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 967 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGGTGAGACCGCACTCAAAAG 0.333 37 61 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41004915 41004915 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:41004915G>C uc003jmj.3 - 36 4462 c.3972C>G c.(3970-3972)ATC>ATG p.I1324M HEATR7B2_uc003jmi.3_Missense_Mutation_p.I879M NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1324 binding ovary(6)|central_nervous_system(2) 8 CGAGCCCTCGGATGGCCATCT 0.473 7 133 --- --- --- --- PASS OXCT1 5019 broad.mit.edu 37 5 41853624 41853624 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:41853624C>T uc003jmn.2 - 4 642 c.311G>A c.(310-312)CGG>CAG p.R104Q NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 104 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) CTGCTTGGACCGAAGCAAAAG 0.408 27 53 --- --- --- --- PASS HMGCS1 3157 broad.mit.edu 37 5 43299047 43299047 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:43299047C>G uc003jnr.3 - 3 228 c.21G>C c.(19-21)TTG>TTC p.L7F HMGCS1_uc003jnq.3_Missense_Mutation_p.L7F NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 7 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 CTTCTGCATTCAAAGGAAGTG 0.363 11 109 --- --- --- --- PASS C5orf28 64417 broad.mit.edu 37 5 43453863 43453863 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:43453863C>G uc003jny.2 - 2 352 c.209G>C c.(208-210)GGA>GCA p.G70A C5orf28_uc003jnv.3_Missense_Mutation_p.G70A|C5orf28_uc003jnx.2_Missense_Mutation_p.G70A NM_022483 NP_071928 Q0VDI3 CE028_HUMAN hypothetical protein LOC64417 70 integral to membrane 0 Lung NSC(6;2.07e-05) CTTCTTGATTCCAGTGACTAC 0.403 21 172 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45396766 45396766 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:45396766A>G uc003jok.2 - 4 1083 c.1058T>C c.(1057-1059)ATG>ACG p.M353T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 353 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CATGTGACTCATAGCTTTGAA 0.463 59 101 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45645431 45645431 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:45645431G>T uc003jok.2 - 2 730 c.705C>A c.(703-705)ATC>ATA p.I235I NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 235 Helical; Name=Segment S3; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAATAAGAAAGATATAATCCA 0.378 6 74 --- --- --- --- PASS OTP 23440 broad.mit.edu 37 5 76932978 76932978 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:76932978C>A uc003kfg.2 - 2 263 c.115G>T c.(115-117)GGG>TGG p.G39W NM_032109 NP_115485 Q5XKR4 OTP_HUMAN orthopedia homeobox 39 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GGATGGCCCCCGGGGTCGGAG 0.697 7 11 --- --- --- --- PASS SCAMP1 9522 broad.mit.edu 37 5 77717666 77717666 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:77717666G>T uc003kfl.2 + 6 671 c.514G>T c.(514-516)GCT>TCT p.A172S SCAMP1_uc010jaa.2_Intron|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_RNA|SCAMP1_uc003kfm.2_RNA NM_004866 NP_004857 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 172 Helical; (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding 0 all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) CGGATGCTTGGCTTGGTTTTG 0.358 104 132 --- --- --- --- PASS SLCO4C1 353189 broad.mit.edu 37 5 101572570 101572570 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:101572570C>G uc003knm.2 - 13 2454 c.2167G>C c.(2167-2169)GAA>CAA p.E723Q NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 723 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TTTCACCCTTCTTTTACTATT 0.368 9 102 --- --- --- --- PASS PPIP5K2 23262 broad.mit.edu 37 5 102472516 102472516 + Missense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:102472516A>T uc003kod.3 + 4 910 c.391A>T c.(391-393)ATA>TTA p.I131L PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.I131L|PPIP5K2_uc010jbo.1_Missense_Mutation_p.I53L NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 131 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 GCAGTATCTCATACAAGATAG 0.274 121 140 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140182467 140182467 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:140182467C>T uc003lhf.2 + 1 1685 c.1685C>T c.(1684-1686)GCG>GTG p.A562V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A562V NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 562 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGACAACGCGCCGGCACTG 0.692 53 59 --- --- --- --- PASS PCDHA5 56143 broad.mit.edu 37 5 140202001 140202001 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:140202001C>G uc003lhl.2 + 1 641 c.641C>G c.(640-642)ACT>AGT p.T214S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.T214S|PCDHA5_uc003lhj.1_Missense_Mutation_p.T214S NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 214 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGATTGCAACTGATGGAGGA 0.348 54 73 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140215871 140215871 + Missense_Mutation SNP C G G rs146878440 TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:140215871C>G uc003lhq.2 + 1 1903 c.1903C>G c.(1903-1905)CGA>GGA p.R635G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R635G NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCACGACACGAGCCCTAGA 0.647 53 58 --- --- --- --- PASS PCDHA10 56139 broad.mit.edu 37 5 140235693 140235693 + Silent SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:140235693C>A uc003lhx.2 + 1 60 c.60C>A c.(58-60)CTC>CTA p.L20L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.L20L|PCDHA10_uc011dad.1_Silent_p.L20L NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 20 homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTTCTCCTCGCAGCCTGGG 0.602 8 94 --- --- --- --- PASS PCDHB9 56127 broad.mit.edu 37 5 140569145 140569145 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:140569145G>C uc003liw.1 + 3 2254 c.2254G>C c.(2254-2256)GAG>CAG p.E752Q PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 752 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTACCAGTACGAGGTGTGTCT 0.622 12 197 --- --- --- --- PASS PCDHGA7 56108 broad.mit.edu 37 5 140762918 140762918 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:140762918G>A uc003lka.1 + 1 452 c.452G>A c.(451-453)CGG>CAG p.R151Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R151Q NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 151 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGGGTTCGGTTTCCGTTA 0.468 10 59 --- --- --- --- PASS PCDHGC5 56097 broad.mit.edu 37 5 140869078 140869078 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:140869078G>A uc003lla.1 + 1 271 c.271G>A c.(271-273)GAC>AAC p.D91N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.D91N NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 91 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAAAAGATTGACCGAGAAAG 0.552 45 40 --- --- --- --- PASS NR3C1 2908 broad.mit.edu 37 5 142779948 142779948 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:142779948C>T uc003lmz.2 - 2 949 c.457G>A c.(457-459)GAG>AAG p.E153K NR3C1_uc003lmy.2_Missense_Mutation_p.E153K|NR3C1_uc003lna.2_Missense_Mutation_p.E153K|NR3C1_uc003lnb.2_Missense_Mutation_p.E153K|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.E153K|NR3C1_uc003lnd.2_Missense_Mutation_p.E153K|NR3C1_uc003lne.2_Missense_Mutation_p.E153K|NR3C1_uc003lnf.2_Missense_Mutation_p.E153K|NR3C1_uc003lng.2_Missense_Mutation_p.E153K|NR3C1_uc003lnh.2_Missense_Mutation_p.E153K|NR3C1_uc003lni.2_Missense_Mutation_p.E153K NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 153 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) AACTCCTTCTCTGTGGGGGCA 0.473 53 60 --- --- --- --- PASS TCOF1 6949 broad.mit.edu 37 5 149751721 149751721 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:149751721G>T uc003lry.2 + 7 900 c.792G>T c.(790-792)AAG>AAT p.K264N TCOF1_uc003lrw.2_Missense_Mutation_p.K264N|TCOF1_uc011dch.1_Missense_Mutation_p.K264N|TCOF1_uc003lrz.2_Missense_Mutation_p.K264N|TCOF1_uc003lrx.2_Intron|TCOF1_uc003lsa.2_Intron NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 264 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAGGGCCAAGAAGCCAGAAG 0.642 8 35 --- --- --- --- PASS TCOF1 6949 broad.mit.edu 37 5 149751728 149751728 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:149751728G>A uc003lry.2 + 7 907 c.799G>A c.(799-801)GAA>AAA p.E267K TCOF1_uc003lrw.2_Missense_Mutation_p.E267K|TCOF1_uc011dch.1_Missense_Mutation_p.E267K|TCOF1_uc003lrz.2_Missense_Mutation_p.E267K|TCOF1_uc003lrx.2_Intron|TCOF1_uc003lsa.2_Intron NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 267 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGAAGCCAGAAGAGGAGTC 0.647 5 32 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150945454 150945454 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:150945454G>A uc003lue.3 - 1 3052 c.3039C>T c.(3037-3039)CTC>CTT p.L1013L GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.L1013L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1013 Extracellular (Potential).|Cadherin 8. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCACATGGCAGAGAGTCCTGC 0.602 5 35 --- --- --- --- PASS GEMIN5 25929 broad.mit.edu 37 5 154317677 154317677 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:154317677C>T uc003lvx.3 - 1 100 c.17G>A c.(16-18)CGG>CAG p.R6Q GEMIN5_uc011ddk.1_Missense_Mutation_p.R6Q|MRPL22_uc003lvy.3_5'Flank|MRPL22_uc003lvz.3_5'Flank NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 6 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGGCAGCGTCCGCGGCTCCTG 0.687 5 8 --- --- --- --- PASS SOX30 11063 broad.mit.edu 37 5 157075874 157075874 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:157075874C>G uc003lxb.1 - 2 1340 c.998G>C c.(997-999)AGA>ACA p.R333T SOX30_uc003lxc.1_Missense_Mutation_p.R333T|SOX30_uc011dds.1_Missense_Mutation_p.R28T NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 333 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGACCATTTCTGTCCTTACT 0.433 8 108 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161300148 161300148 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr5:161300148G>T uc010jiw.2 + 6 749 c.281G>T c.(280-282)CGT>CTT p.R94L GABRA1_uc010jix.2_Missense_Mutation_p.R94L|GABRA1_uc010jiy.2_Missense_Mutation_p.R94L|GABRA1_uc003lyx.3_Missense_Mutation_p.R94L|GABRA1_uc010jiz.2_Missense_Mutation_p.R94L|GABRA1_uc010jja.2_Missense_Mutation_p.R94L|GABRA1_uc010jjb.2_Missense_Mutation_p.R94L NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 94 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R94H(1) ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GTATTTTTCCGTCAAAGCTGG 0.373 62 75 --- --- --- --- PASS KIAA0319 9856 broad.mit.edu 37 6 24596840 24596840 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:24596840G>A uc011djo.1 - 3 299 c.62C>T c.(61-63)GCC>GTC p.A21V KIAA0319_uc011djp.1_5'UTR|KIAA0319_uc003neh.1_Missense_Mutation_p.A21V|KIAA0319_uc011djq.1_Missense_Mutation_p.A12V|KIAA0319_uc011djr.1_Missense_Mutation_p.A21V NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 21 MANSC.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 CTGCTTACGGGCACAACCTTT 0.483 4 111 --- --- --- --- PASS FLOT1 10211 broad.mit.edu 37 6 30697820 30697820 + Silent SNP G C C rs1802471 TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:30697820G>C uc003nrm.2 - 12 1397 c.1233C>G c.(1231-1233)CTC>CTG p.L411L FLOT1_uc011dmr.1_Silent_p.L363L NM_005803 NP_005794 O75955 FLOT1_HUMAN flotillin 1 411 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction 0 TCACGCCTGTGAGTCTTTCCA 0.547 6 96 --- --- --- --- PASS BAT1 7919 broad.mit.edu 37 6 31498931 31498931 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:31498931G>T uc003ntt.2 - 9 1652 c.1021C>A c.(1021-1023)CTT>ATT p.L341I BAT1_uc003ntq.2_Missense_Mutation_p.L74I|BAT1_uc003ntr.2_Missense_Mutation_p.L148I|BAT1_uc003nts.2_Missense_Mutation_p.L341I|BAT1_uc011dnn.1_Missense_Mutation_p.L263I|BAT1_uc003ntu.2_Missense_Mutation_p.L341I|BAT1_uc003ntv.2_Missense_Mutation_p.L341I NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 341 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 GTAGCCACAAGAATTCGTCGT 0.423 5 105 --- --- --- --- PASS VARS 7407 broad.mit.edu 37 6 31752382 31752382 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:31752382G>C uc003nxe.2 - 11 1880 c.1457C>G c.(1456-1458)TCT>TGT p.S486C VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 486 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CTCAATGTCAGAGATGGCGGA 0.592 10 91 --- --- --- --- PASS SCUBE3 222663 broad.mit.edu 37 6 35211449 35211449 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:35211449G>C uc003okf.1 + 16 1994 c.1988G>C c.(1987-1989)AGA>ACA p.R663T SCUBE3_uc003okg.1_Missense_Mutation_p.R662T|SCUBE3_uc003okh.1_Missense_Mutation_p.R550T NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 663 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 TTCCAGGAGAGAGAAGGGCAG 0.647 5 76 --- --- --- --- PASS CPNE5 57699 broad.mit.edu 37 6 36714258 36714258 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:36714258T>A uc003omr.1 - 16 1182 c.1115A>T c.(1114-1116)CAC>CTC p.H372L CPNE5_uc003omp.1_Missense_Mutation_p.H80L|CPNE5_uc010jwn.1_Missense_Mutation_p.H22L|CPNE5_uc003omq.1_Missense_Mutation_p.H22L NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 372 VWFA. skin(1) 1 ACTGTCGTAGTGCTGGATGAT 0.627 67 39 --- --- --- --- PASS BTBD9 114781 broad.mit.edu 37 6 38560460 38560460 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:38560460G>C uc003ooa.3 - 5 1282 c.706C>G c.(706-708)CTG>GTG p.L236V BTBD9_uc003ony.3_Missense_Mutation_p.L168V|BTBD9_uc010jwv.2_Missense_Mutation_p.L168V|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.L236V NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 236 BACK. cell adhesion 0 ACAACATTCAGAAGCTCTGTG 0.468 45 64 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38899745 38899745 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:38899745G>C uc003ooe.1 + 74 11382 c.10782G>C c.(10780-10782)AGG>AGC p.R3594S DNAH8_uc003oog.1_Missense_Mutation_p.R43S|uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGTTACTAAGGAGAGTCATTC 0.348 24 88 --- --- --- --- PASS KCNK17 89822 broad.mit.edu 37 6 39271838 39271838 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:39271838G>A uc003ooo.2 - 4 723 c.583C>T c.(583-585)CTG>TTG p.L195L KCNK17_uc003oop.2_Silent_p.L195L NM_031460 NP_113648 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 195 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 AGCGGTGGCAGCAGCAGGAAG 0.647 33 64 --- --- --- --- PASS TTBK1 84630 broad.mit.edu 37 6 43222319 43222319 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:43222319A>G uc003ouq.1 + 6 785 c.506A>G c.(505-507)TAC>TGC p.Y169C NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 169 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCCTCCACCTACAGGAAGTGC 0.662 30 69 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46827066 46827066 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:46827066G>C uc003oyo.3 - 17 2863 c.2574C>G c.(2572-2574)ATC>ATG p.I858M GPR116_uc011dwj.1_Missense_Mutation_p.I413M|GPR116_uc011dwk.1_Missense_Mutation_p.I287M|GPR116_uc003oyp.3_Missense_Mutation_p.I716M|GPR116_uc003oyq.3_Missense_Mutation_p.I858M|GPR116_uc010jzi.1_Missense_Mutation_p.I530M NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 858 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) GGCTGGACTTGATTACCATGC 0.448 3 83 --- --- --- --- PASS GPR110 266977 broad.mit.edu 37 6 46979767 46979767 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:46979767G>T uc003oyt.2 - 10 1291 c.1092C>A c.(1090-1092)TTC>TTA p.F364L GPR110_uc011dwl.1_Missense_Mutation_p.F52L NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 364 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 TGGACACCCTGAAATGGCTGG 0.468 11 54 --- --- --- --- PASS CRISP3 10321 broad.mit.edu 37 6 49698956 49698956 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:49698956C>A uc003ozs.2 - 7 545 c.530G>T c.(529-531)TGG>TTG p.W177L NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 177 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TCTATTAGCCCAATTACCACT 0.343 40 71 --- --- --- --- PASS TFAP2B 7021 broad.mit.edu 37 6 50791151 50791151 + Nonsense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:50791151C>A uc003pag.2 + 2 279 c.113C>A c.(112-114)TCG>TAG p.S38* NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 38 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) AGCCACAGCTCGCGGCTCTCC 0.498 5 14 --- --- --- --- PASS CD109 135228 broad.mit.edu 37 6 74533185 74533185 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:74533185G>A uc003php.2 + 33 4591 c.4166G>A c.(4165-4167)AGA>AAA p.R1389K CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.R1372K|CD109_uc010kba.2_Missense_Mutation_p.R1312K NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1389 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TGAACAGGGAGACAGGCTGTG 0.468 22 30 --- --- --- --- PASS SPACA1 81833 broad.mit.edu 37 6 88769180 88769180 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:88769180A>G uc003pmn.2 + 5 601 c.484A>G c.(484-486)ATA>GTA p.I162V NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor 162 Extracellular (Potential). integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) GCAATCCATTATACTTGTAAA 0.333 11 22 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123687319 123687319 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:123687319G>A uc003pzj.1 - 20 1304 c.1282C>T c.(1282-1284)CGA>TGA p.R428* TRDN_uc003pzk.1_Nonsense_Mutation_p.R429*|TRDN_uc003pzl.1_Nonsense_Mutation_p.R429*|TRDN_uc010kem.1_Translation_Start_Site NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 428 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) TCTTTGGCTCGTTCAGTTTCT 0.303 16 25 --- --- --- --- PASS NKAIN2 154215 broad.mit.edu 37 6 125139577 125139577 + Nonsense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:125139577C>T uc003pzo.2 + 6 857 c.580C>T c.(580-582)CAG>TAG p.Q194* NKAIN2_uc003pzp.2_Nonsense_Mutation_p.Q193*|NKAIN2_uc010keq.2_Nonsense_Mutation_p.Q127*|NKAIN2_uc010ker.2_Nonsense_Mutation_p.Q104* NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 194 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) TCAAGGGCCTCAGAAGACATC 0.363 7 69 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130370465 130370465 + Silent SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:130370465A>G uc003qbt.2 + 4 311 c.141A>G c.(139-141)ACA>ACG p.T47T L3MBTL3_uc003qbu.2_Silent_p.T47T NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 47 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AAGTTATTACAGATGAGAATG 0.378 21 40 --- --- --- --- PASS ARG1 383 broad.mit.edu 37 6 131902484 131902484 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:131902484C>T uc003qcp.1 + 4 489 c.431C>T c.(430-432)CCT>CTT p.P144L ARG1_uc003qco.1_Missense_Mutation_p.P144L|ARG1_uc010kfm.1_Missense_Mutation_p.P152L|MED23_uc003qcq.2_Intron NM_000045 NP_000036 P05089 ARGI1_HUMAN arginase 1 144 arginine catabolic process|urea cycle cytosol arginase activity ovary(1) 1 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) CATGGACAACCTGTATCTTTC 0.453 15 27 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132892144 132892144 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:132892144G>A uc011eck.1 + 1 684 c.684G>A c.(682-684)GCG>GCA p.A228A NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 228 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GACGACAGGCGAAAAAGATAG 0.403 18 29 --- --- --- --- PASS PLEKHG1 57480 broad.mit.edu 37 6 151121912 151121912 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:151121912G>A uc003qny.1 + 7 999 c.687G>A c.(685-687)AGG>AGA p.R229R PLEKHG1_uc011eel.1_Silent_p.R269R|PLEKHG1_uc011eem.1_Silent_p.R288R|PLEKHG1_uc003qnz.2_Silent_p.R229R NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 229 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AATTCTTCAGGGAGCGTCAGG 0.448 32 44 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1512808 1512808 + Silent SNP G A A rs138397380 by1000genomes TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:1512808G>A uc003skn.2 - 43 6071 c.5970C>T c.(5968-5970)TTC>TTT p.F1990F INTS1_uc003skm.1_Silent_p.F127F NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1990 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CACTGTTGTCGAAGGACAGGT 0.627 8 49 --- --- --- --- PASS EIF2AK1 27102 broad.mit.edu 37 7 6077058 6077058 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:6077058C>G uc003spp.2 - 11 1475 c.1329G>C c.(1327-1329)CTG>CTC p.L443L EIF2AK1_uc003spq.2_Silent_p.L442L|EIF2AK1_uc011jwm.1_Silent_p.L319L NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 443 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CACTTACCTTCAGATCTCGGT 0.383 10 122 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15405803 15405803 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:15405803G>A uc003stb.1 - 11 1289 c.1119C>T c.(1117-1119)ATC>ATT p.I373I NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 373 Helical; (Potential). ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 TCAAGGTCAGGATAATGAAGC 0.388 3 21 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21760441 21760441 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:21760441C>G uc003svc.2 + 45 7285 c.7254C>G c.(7252-7254)ATC>ATG p.I2418M NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2418 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTGCTTGTATCTGGGCTTTTG 0.423 Kartagener_syndrome 4 65 --- --- --- --- PASS NPC1L1 29881 broad.mit.edu 37 7 44555412 44555412 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:44555412G>A uc003tlb.2 - 19 3923 c.3867C>T c.(3865-3867)CTC>CTT p.L1289L NPC1L1_uc003tlc.2_Silent_p.L1262L|NPC1L1_uc011kbw.1_Silent_p.L1216L|NPC1L1_uc003tla.2_Intron NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1289 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) CCACGTAGCTGAGGATGACGG 0.547 6 81 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45725805 45725805 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:45725805C>T uc003tne.3 + 13 2336 c.2318C>T c.(2317-2319)ACC>ATC p.T773I NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 773 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGCGGATACACCAGGACTGGG 0.522 34 97 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48319431 48319431 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:48319431C>G uc003toq.2 + 18 8665 c.8640C>G c.(8638-8640)TTC>TTG p.F2880L ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2880 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTTATAGTTTCAAACCATTTT 0.338 52 74 --- --- --- --- PASS KIAA1324L 222223 broad.mit.edu 37 7 86509809 86509809 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:86509809G>A uc011kha.1 - 22 3253 c.3068C>T c.(3067-3069)ACC>ATC p.T1023I KIAA1324L_uc003uif.1_Missense_Mutation_p.T783I|KIAA1324L_uc011kgz.1_Missense_Mutation_p.T909I|KIAA1324L_uc003uie.2_Missense_Mutation_p.T856I NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 1023 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) GGATCTTGAGGTTTTCAGTTG 0.338 27 66 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91699518 91699518 + Nonsense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:91699518A>T uc003ulg.2 + 27 6730 c.6505A>T c.(6505-6507)AAG>TAG p.K2169* AKAP9_uc003ulf.2_Intron|AKAP9_uc003uli.2_Nonsense_Mutation_p.K1792*|AKAP9_uc003ulj.2_Intron NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2181 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TACTTTTCAAAAGGTGTGGCA 0.328 T BRAF papillary thyroid 27 109 --- --- --- --- PASS ASB4 51666 broad.mit.edu 37 7 95115428 95115428 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:95115428G>C uc011kij.1 + 1 145 c.145G>C c.(145-147)GAA>CAA p.E49Q ASB4_uc003unx.2_Missense_Mutation_p.E49Q NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 49 intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CACTGTTTTTGAAGTCGAAGA 0.328 5 134 --- --- --- --- PASS SLC25A13 10165 broad.mit.edu 37 7 95751219 95751219 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:95751219C>G uc003uof.3 - 16 1873 c.1682G>C c.(1681-1683)GGA>GCA p.G561A SLC25A13_uc003uog.3_Missense_Mutation_p.G562A|SLC25A13_uc011kik.1_Missense_Mutation_p.G453A NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 561 Solcar 3. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GTCTATCACTCCGCTGTAAGT 0.483 31 104 --- --- --- --- PASS ZKSCAN1 7586 broad.mit.edu 37 7 99631580 99631580 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:99631580G>T uc003usk.1 + 6 1671 c.1452G>T c.(1450-1452)ACG>ACT p.T484T ZKSCAN1_uc003usl.1_Silent_p.T448T|ZKSCAN1_uc003usm.1_Silent_p.T271T NM_003439 NP_003430 P17029 ZKSC1_HUMAN zinc finger protein 36 484 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GAATTCACACGGGGGAGAAAC 0.473 32 99 --- --- --- --- PASS ZCWPW1 55063 broad.mit.edu 37 7 99998905 99998905 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:99998905G>A uc003uut.2 - 18 1927 c.1679C>T c.(1678-1680)TCA>TTA p.S560L ZCWPW1_uc011kjq.1_Missense_Mutation_p.S440L|ZCWPW1_uc003uur.2_Nonsense_Mutation_p.Q369*|ZCWPW1_uc003uus.2_Missense_Mutation_p.S389L|ZCWPW1_uc011kjr.1_Nonsense_Mutation_p.Q489*|ZCWPW1_uc011kjp.1_RNA NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 560 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTTTCCCTCTGAAAAGCTGGC 0.512 14 100 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122027211 122027211 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:122027211C>G uc010lkp.2 - 23 3344 c.3181G>C c.(3181-3183)GAA>CAA p.E1061Q CADPS2_uc011knx.1_Missense_Mutation_p.E436Q|CADPS2_uc003vkg.3_Missense_Mutation_p.E715Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E1015Q NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 1061 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 AGCTTGAGTTCAAATGCAGTT 0.363 3 17 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122056162 122056162 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:122056162C>G uc010lkp.2 - 17 2696 c.2533G>C c.(2533-2535)GAG>CAG p.E845Q CADPS2_uc011knx.1_Missense_Mutation_p.E223Q|CADPS2_uc003vkg.3_Missense_Mutation_p.E542Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E842Q NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 845 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 ATGCAGAGCTCTGCCAGATGA 0.388 4 6 --- --- --- --- PASS FAM180A 389558 broad.mit.edu 37 7 135418826 135418826 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:135418826G>T uc003vtd.2 - 3 685 c.419C>A c.(418-420)TCC>TAC p.S140Y FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.S140Y NM_205855 NP_995327 Q6UWF9 F180A_HUMAN hypothetical protein LOC389558 precursor 140 extracellular region ovary(2) 2 ATGGCCGTGGGACAGGGCTGT 0.617 34 65 --- --- --- --- PASS OR9A2 135924 broad.mit.edu 37 7 142723506 142723506 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:142723506G>A uc003wcc.1 - 1 714 c.714C>T c.(712-714)GCC>GCT p.A238A NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) TGAAGTGGGAGGCAAAAGTGG 0.488 24 89 --- --- --- --- PASS ZYX 7791 broad.mit.edu 37 7 143085896 143085896 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:143085896A>G uc003wcw.2 + 8 1506 c.1351A>G c.(1351-1353)ATC>GTC p.I451V ZYX_uc011ktd.1_Missense_Mutation_p.I294V|ZYX_uc003wcx.2_Missense_Mutation_p.I451V|ZYX_uc011kte.1_Missense_Mutation_p.I420V|ZYX_uc011ktf.1_Missense_Mutation_p.I294V NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 451 LIM zinc-binding 2. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) CGGGGAGCCCATCACTGACCG 0.662 14 67 --- --- --- --- PASS TAS2R60 338398 broad.mit.edu 37 7 143141402 143141402 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:143141402A>G uc011ktg.1 + 1 857 c.857A>G c.(856-858)TAT>TGT p.Y286C uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 286 Cytoplasmic (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TCAGTGATTTATCTGTGTGCA 0.493 117 180 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149425626 149425626 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:149425626G>A uc003wfz.2 + 12 1886 c.1487G>A c.(1486-1488)GGA>GAA p.G496E KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.G164E NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 496 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCCCACCAGGAAGCTCCCCA 0.582 71 176 --- --- --- --- PASS ZNF775 285971 broad.mit.edu 37 7 150094078 150094078 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:150094078G>A uc003whf.1 + 3 634 c.509G>A c.(508-510)CGG>CAG p.R170Q NM_173680 NP_775951 Q96BV0 ZN775_HUMAN zinc finger protein 775 170 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGTGCGCGCGGCGCTTCAGC 0.697 10 22 --- --- --- --- PASS ZNF775 285971 broad.mit.edu 37 7 150094922 150094922 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:150094922C>T uc003whf.1 + 3 1478 c.1353C>T c.(1351-1353)TGC>TGT p.C451C LOC728743_uc003whg.2_5'Flank NM_173680 NP_775951 Q96BV0 ZN775_HUMAN zinc finger protein 775 451 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAACGAGTGCGGCAAGAGCT 0.731 5 14 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 152055756 152055756 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:152055756G>A uc003wla.2 - 2 385 c.166C>T c.(166-168)CGA>TGA p.R56* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 56 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CCCCTACTTCGAGGTCTACAG 0.358 N medulloblastoma 80 218 --- --- --- --- PASS PCM1 5108 broad.mit.edu 37 8 17819547 17819547 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:17819547C>T uc003wyi.3 + 16 2749 c.2327C>T c.(2326-2328)TCA>TTA p.S776L PCM1_uc011kyh.1_Missense_Mutation_p.S776L|PCM1_uc003wyj.3_Missense_Mutation_p.S777L NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 776 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) TTTTAGCTGTCAGCTGCTAGT 0.358 T RET|JAK2 papillary thyroid|CML|MPD 9 17 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39495998 39495998 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:39495998C>A uc003xni.2 + 10 842 c.842C>A c.(841-843)CCT>CAT p.P281H ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P257H NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 281 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AGGAAACATCCTAAATATGTG 0.279 18 127 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48815131 48815131 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:48815131G>C uc003xqi.2 - 27 3324 c.3267C>G c.(3265-3267)TTC>TTG p.F1089L PRKDC_uc003xqj.2_Missense_Mutation_p.F1089L|PRKDC_uc011ldh.1_Missense_Mutation_p.F1089L NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1089 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TTACAAACCTGAATTCCCTGT 0.413 NHEJ 13 53 --- --- --- --- PASS TTPA 7274 broad.mit.edu 37 8 63973878 63973878 + Missense_Mutation SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:63973878T>C uc003xux.1 - 5 802 c.770A>G c.(769-771)CAG>CGG p.Q257R NM_000370 NP_000361 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 257 lipid metabolic process transporter activity|vitamin E binding 0 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) TGTCCATTCCTGACAAATGTC 0.388 18 88 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69104751 69104751 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:69104751G>A uc003xxv.1 + 37 4622 c.4595G>A c.(4594-4596)GGT>GAT p.G1532D NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1532 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TGCAGCAGCGGTGTGCATCGG 0.493 8 52 --- --- --- --- PASS C8orf34 116328 broad.mit.edu 37 8 69445374 69445374 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:69445374G>A uc010lyz.2 + 7 886 c.837G>A c.(835-837)ATG>ATA p.M279I C8orf34_uc010lyy.1_Missense_Mutation_p.M279I|C8orf34_uc003xyb.2_Missense_Mutation_p.M254I NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 279 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATGATGCAATGGAATTGCTGG 0.333 31 123 --- --- --- --- PASS LACTB2 51110 broad.mit.edu 37 8 71574130 71574130 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:71574130C>G uc011lfd.1 - 2 217 c.125G>C c.(124-126)AGA>ACA p.R42T LACTB2_uc003xyp.2_Missense_Mutation_p.R42T NM_016027 NP_057111 Q53H82 LACB2_HUMAN lactamase, beta 2 42 hydrolase activity|metal ion binding ovary(1) 1 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) AATGAGGATTCTCCTGAAAAT 0.353 28 107 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77617479 77617479 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:77617479G>A uc003yav.2 + 2 1543 c.1156G>A c.(1156-1158)GCG>ACG p.A386T ZFHX4_uc003yat.1_Missense_Mutation_p.A386T|ZFHX4_uc003yau.1_Missense_Mutation_p.A386T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A386T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 386 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAAGGAAGCGCGAGCACCTC 0.537 HNSCC(33;0.089) 18 96 --- --- --- --- PASS OSR2 116039 broad.mit.edu 37 8 99961747 99961747 + Silent SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:99961747C>A uc003yir.2 + 2 1102 c.567C>A c.(565-567)ATC>ATA p.I189I OSR2_uc010mbn.2_Silent_p.I189I|OSR2_uc003yiq.2_Silent_p.I189I|OSR2_uc011lgx.1_Silent_p.I310I NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 189 C2H2-type 1. bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) ATTTGCTCATCCATGAGAGGA 0.532 165 174 --- --- --- --- PASS GRHL2 79977 broad.mit.edu 37 8 102570785 102570785 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:102570785C>T uc010mbu.2 + 4 753 c.423C>T c.(421-423)ATC>ATT p.I141I GRHL2_uc011lhi.1_Silent_p.I141I NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 141 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) AGTACAGCATCAGCTTCCCCG 0.512 38 163 --- --- --- --- PASS ABRA 137735 broad.mit.edu 37 8 107773726 107773726 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:107773726C>G uc003ymm.3 - 2 739 c.685G>C c.(685-687)GAG>CAG p.E229Q NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 229 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TTGAGTTTCTCTGTAAATCTG 0.433 5 113 --- --- --- --- PASS ANGPT1 284 broad.mit.edu 37 8 108334175 108334175 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:108334175C>T uc003ymn.2 - 4 1225 c.757G>A c.(757-759)GAG>AAG p.E253K ANGPT1_uc011lhv.1_Missense_Mutation_p.E53K|ANGPT1_uc003ymo.2_Missense_Mutation_p.E253K|ANGPT1_uc003ymp.3_Missense_Mutation_p.E53K NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 253 Potential. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TCCATCAGCTCCAGTTGCTGC 0.403 43 141 --- --- --- --- PASS COLEC10 10584 broad.mit.edu 37 8 120118073 120118073 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:120118073C>T uc003yoo.2 + 6 574 c.477C>T c.(475-477)TTC>TTT p.F159F NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 precursor 159 C-type lectin. collagen|cytoplasm mannose binding ovary(2)|skin(1) 3 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) AAGAGAAATTCTACTACATCG 0.438 4 68 --- --- --- --- PASS MAL2 114569 broad.mit.edu 37 8 120252475 120252475 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:120252475C>G uc003yop.2 + 4 476 c.374C>G c.(373-375)TCC>TGC p.S125C NM_052886 NP_443118 Q969L2 MAL2_HUMAN MAL2 proteolipid protein 125 Lumenal (Potential).|MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding 0 all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) GCAGCCACATCCCTGCATGAT 0.398 11 126 --- --- --- --- PASS MTBP 27085 broad.mit.edu 37 8 121514775 121514775 + Silent SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:121514775C>A uc003ypc.1 + 15 1698 c.1653C>A c.(1651-1653)ACC>ACA p.T551T NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 551 Interaction with MDM2 (By similarity). cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TAATGGAAACCAATCCTCTGG 0.313 16 53 --- --- --- --- PASS WDR67 93594 broad.mit.edu 37 8 124146371 124146371 + Silent SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:124146371A>T uc003ypp.1 + 17 2514 c.2424A>T c.(2422-2424)CGA>CGT p.R808R WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Silent_p.R698R|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.R442R|WDR67_uc003ypt.1_Silent_p.R265R|WDR67_uc003ypu.1_Silent_p.R265R NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 808 Potential. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TGAGAGATCGAGAAATTGCTG 0.323 30 148 --- --- --- --- PASS RNF139 11236 broad.mit.edu 37 8 125499022 125499022 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:125499022C>T uc003yrc.2 + 2 1475 c.1132C>T c.(1132-1134)CTC>TTC p.L378F NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 378 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATTAATGTCTCTCAGTGCCTC 0.398 Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 8 571 --- --- --- --- PASS SLA 6503 broad.mit.edu 37 8 134063088 134063088 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:134063088C>G uc003ytz.2 - 4 966 c.134G>C c.(133-135)CGA>CCA p.R45P TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.R62P|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Missense_Mutation_p.R62P|SLA_uc010mdy.1_Missense_Mutation_p.R45P|SLA_uc010mdz.1_Missense_Mutation_p.R45P|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Missense_Mutation_p.R85P NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 45 SH3. endosome SH3/SH2 adaptor activity lung(1)|liver(1) 2 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) TTTCTCCCCTCGGCGGAATAT 0.502 9 130 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144942409 144942409 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:144942409G>C uc003zaa.1 - 1 5026 c.5013C>G c.(5011-5013)CTC>CTG p.L1671L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1671 Plectin 28. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCGGACGATGAGGTCCTTCT 0.687 9 166 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144943418 144943418 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:144943418G>A uc003zaa.1 - 1 4017 c.4004C>T c.(4003-4005)TCC>TTC p.S1335F NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1335 Plectin 23. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGAGAGAGGGAGGCCCTAGA 0.687 20 111 --- --- --- --- PASS SLC39A4 55630 broad.mit.edu 37 8 145641346 145641346 + Missense_Mutation SNP C T T rs144726882 TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr8:145641346C>T uc003zcq.2 - 2 422 c.322G>A c.(322-324)GAG>AAG p.E108K SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Missense_Mutation_p.E83K NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 108 Extracellular (Potential). cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CAGGTGCCCTCGGGGTTGCTG 0.736 8 33 --- --- --- --- PASS KDM4C 23081 broad.mit.edu 37 9 6984310 6984310 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:6984310G>A uc003zkh.2 + 10 1840 c.1260G>A c.(1258-1260)GTG>GTA p.V420V KDM4C_uc010mhu.2_Silent_p.V442V|KDM4C_uc011lmi.1_Silent_p.V420V|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.V420V|KDM4C_uc011lmk.1_Silent_p.V239V|KDM4C_uc011lml.1_Silent_p.V107V NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 420 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 AAGCAGCAGTGAAGCTGAGGA 0.483 4 54 --- --- --- --- PASS DENND4C 55667 broad.mit.edu 37 9 19372047 19372047 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:19372047A>G uc003znq.2 + 28 4931 c.4898A>G c.(4897-4899)AAT>AGT p.N1633S DENND4C_uc011lnc.1_Missense_Mutation_p.N963S|DENND4C_uc011lnd.1_Missense_Mutation_p.N921S|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_3'UTR NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1633 integral to membrane ovary(1)|skin(1) 2 GCATTTGACAATGAATATGGA 0.358 16 117 --- --- --- --- PASS IFNA8 3445 broad.mit.edu 37 9 21409532 21409532 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:21409532G>T uc003zpc.1 + 1 387 c.357G>T c.(355-357)CTG>CTT p.L119L NM_002170 NP_002161 P32881 IFNA8_HUMAN interferon, alpha 8 precursor 119 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) TGAATGACCTGGAGTCCTGTG 0.483 15 140 --- --- --- --- PASS IFNA8 3445 broad.mit.edu 37 9 21409534 21409534 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:21409534A>G uc003zpc.1 + 1 389 c.359A>G c.(358-360)GAG>GGG p.E120G NM_002170 NP_002161 P32881 IFNA8_HUMAN interferon, alpha 8 precursor 120 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) AATGACCTGGAGTCCTGTGTG 0.478 15 138 --- --- --- --- PASS C9orf11 54586 broad.mit.edu 37 9 27284754 27284754 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:27284754C>T uc003zql.2 - 8 936 c.852G>A c.(850-852)GAG>GAA p.E284E NCRNA00032_uc010mjd.1_5'Flank|C9orf11_uc011lnq.1_Silent_p.E255E NM_020641 NP_065692 Q9NQ60 AFAF_HUMAN Acr formation associated factor isoform 1 284 Cytoplasmic (Potential). acrosomal membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106) TTTCATGCATCTCATTATCTG 0.358 11 89 --- --- --- --- PASS TOPORS 10210 broad.mit.edu 37 9 32543189 32543189 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:32543189G>A uc003zrb.2 - 3 1501 c.1334C>T c.(1333-1335)TCA>TTA p.S445L TOPORS_uc003zrc.2_Missense_Mutation_p.S378L NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 445 Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TTCTTCATCTGAACTGTCAGA 0.418 6 100 --- --- --- --- PASS C9orf128 392307 broad.mit.edu 37 9 35819993 35819993 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:35819993G>C uc010mlc.2 - 4 1032 c.747C>G c.(745-747)CTC>CTG p.L249L C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Silent_p.L249L NM_001012446 NP_001012448 A6H8Z2 CI128_HUMAN hypothetical protein LOC392307 249 0 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) AGCCAATGTAGAGACCTAGGT 0.502 3 63 --- --- --- --- PASS C9orf102 375748 broad.mit.edu 37 9 98740391 98740391 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:98740391G>C uc004avu.2 + 12 2504 c.1259G>C c.(1258-1260)GGA>GCA p.G420A uc010msa.1_Missense_Mutation_p.G110A|uc011lun.1_Missense_Mutation_p.G110A Q5T890 RAD26_HUMAN Homo sapiens cDNA, FLJ97452. Error:Variant_position_missing_in_Q5T890_after_alignment DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) AATGTAATTGGATCGAGCAAA 0.403 3 67 --- --- --- --- PASS OR13C4 138804 broad.mit.edu 37 9 107289477 107289477 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:107289477T>A uc011lvn.1 - 1 14 c.14A>T c.(13-15)AAC>ATC p.N5I NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AAATGTCTGGTTTATCTTGTC 0.368 12 51 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107574967 107574967 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:107574967C>A uc004bcl.2 - 28 4251 c.3938G>T c.(3937-3939)GGC>GTC p.G1313V NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1313 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGACCCTTTGCCATCCATCCC 0.493 41 85 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107574968 107574968 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:107574968C>A uc004bcl.2 - 28 4250 c.3937G>T c.(3937-3939)GGC>TGC p.G1313C NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1313 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GACCCTTTGCCATCCATCCCA 0.493 41 85 --- --- --- --- PASS HSPA5 3309 broad.mit.edu 37 9 128000963 128000963 + Missense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:128000963A>T uc004bpn.2 - 6 1396 c.1140T>A c.(1138-1140)AAT>AAA p.N380K NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 380 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) GTTCCTTGCCATTGAAGAACT 0.448 Prostate(1;0.17) 5 79 --- --- --- --- PASS MAPKAP1 79109 broad.mit.edu 37 9 128434763 128434763 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:128434763G>C uc004bpv.2 - 2 424 c.91C>G c.(91-93)CTC>GTC p.L31V MAPKAP1_uc004bpw.2_Intron|MAPKAP1_uc004bpx.2_Intron|MAPKAP1_uc004bpy.2_Missense_Mutation_p.L31V|MAPKAP1_uc004bpz.2_Missense_Mutation_p.L31V|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.L31V NM_001006617 NP_001006618 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated 31 Interaction with MAP3K2. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding ovary(2)|lung(2) 4 TGATCAATGAGAACCATCTCA 0.458 4 51 --- --- --- --- PASS GARNL3 84253 broad.mit.edu 37 9 130116584 130116584 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:130116584C>G uc011mae.1 + 19 2055 c.1654C>G c.(1654-1656)CGC>GGC p.R552G GARNL3_uc011mad.1_Missense_Mutation_p.R530G|GARNL3_uc010mxi.2_5'Flank NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 552 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAAAGATGCTCGCCTCTTTGT 0.483 16 82 --- --- --- --- PASS ST6GALNAC6 30815 broad.mit.edu 37 9 130653125 130653125 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:130653125C>G uc004bso.1 - 5 614 c.495G>C c.(493-495)CTG>CTC p.L165L ST6GALNAC6_uc004bsn.1_Silent_p.L131L|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.L165L|ST6GALNAC6_uc004bsq.1_Silent_p.L131L|ST6GALNAC6_uc004bsr.2_Silent_p.L131L|ST6GALNAC6_uc010mxp.1_RNA NM_013443 NP_038471 Q969X2 SIA7F_HUMAN sialytransferase 7F 165 Lumenal (Potential). protein glycosylation integral to Golgi membrane|plasma membrane 0 GGGGCCTCCTCAGCACGCGGA 0.612 3 44 --- --- --- --- PASS PFKP 5214 broad.mit.edu 37 10 3162113 3162113 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:3162113C>T uc001igp.2 + 16 1596 c.1560C>T c.(1558-1560)GCC>GCT p.A520A PFKP_uc001igq.2_Silent_p.A512A|PFKP_uc009xhr.2_Silent_p.A482A|PFKP_uc009xhs.1_Silent_p.A304A|PFKP_uc009xht.2_Silent_p.A258A|PFKP_uc009xhu.2_Silent_p.A26A NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 520 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AGCTGTCAGCCGCCCGGGAGA 0.622 OREG0019976 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 74 --- --- --- --- PASS PFKP 5214 broad.mit.edu 37 10 3176761 3176761 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:3176761G>C uc001igp.2 + 20 2145 c.2109G>C c.(2107-2109)GAG>GAC p.E703D PFKP_uc001igq.2_Missense_Mutation_p.E695D|PFKP_uc009xhr.2_Missense_Mutation_p.E665D|PFKP_uc009xht.2_Missense_Mutation_p.E441D|PFKP_uc009xhu.2_Missense_Mutation_p.E209D NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 703 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AACTCAAGGAGGCCCGGGGCA 0.562 11 284 --- --- --- --- PASS ATP5C1 509 broad.mit.edu 37 10 7830204 7830204 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:7830204G>C uc001iju.2 + 1 112 c.34G>C c.(34-36)GCC>CCC p.A12P KIN_uc010qaz.1_5'Flank|KIN_uc001ijt.2_5'Flank|KIN_uc009xip.2_5'Flank|KIN_uc010qba.1_5'Flank|ATP5C1_uc010qbb.1_Missense_Mutation_p.A12P|ATP5C1_uc009xiq.1_Missense_Mutation_p.A12P|ATP5C1_uc010qbc.1_5'UTR|ATP5C1_uc001ijv.2_Missense_Mutation_p.A12P NM_001001973 NP_001001973 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 12 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 TGGGCTGTCGGCCTGGACCTT 0.667 28 54 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15688934 15688934 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:15688934T>A uc001ioc.1 - 12 1118 c.1118A>T c.(1117-1119)GAC>GTC p.D373V ITGA8_uc010qcb.1_Missense_Mutation_p.D358V NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 373 Extracellular (Potential).|FG-GAP 6. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GATCTGGGGGTCTCTGAAGAG 0.483 42 122 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18250593 18250593 + Silent SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:18250593T>A uc001ipo.2 + 3 618 c.345T>A c.(343-345)TCT>TCA p.S115S SLC39A12_uc001ipn.2_Silent_p.S115S|SLC39A12_uc001ipp.2_Silent_p.S115S|SLC39A12_uc010qck.1_5'UTR NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 115 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AGAGAGTTTCTCTTCTCCTTC 0.363 50 105 --- --- --- --- PASS MPP7 143098 broad.mit.edu 37 10 28345547 28345547 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:28345547C>T uc001iua.1 - 18 1817 c.1413G>A c.(1411-1413)GTG>GTA p.V471V MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.V471V|MPP7_uc009xla.2_Silent_p.V471V|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 471 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TTAAATGCTTCACTGTCTACA 0.308 5 125 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37442554 37442554 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:37442554C>A uc001iza.1 + 13 1693 c.1594C>A c.(1594-1596)CAA>AAA p.Q532K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 588 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GGCTACACATCAAAAAGAAAT 0.313 68 409 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582959 55582959 + Silent SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:55582959A>T uc001jju.1 - 33 4922 c.4527T>A c.(4525-4527)TCT>TCA p.S1509S PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.S1506S|PCDH15_uc010qhw.1_Silent_p.S1469S|PCDH15_uc010qhx.1_Silent_p.S1440S|PCDH15_uc010qhy.1_Silent_p.S1516S|PCDH15_uc010qhz.1_Silent_p.S1511S|PCDH15_uc010qia.1_Silent_p.S1489S|PCDH15_uc010qib.1_Silent_p.S1486S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1509 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ATTTTCTTGCAGACTTCAGTT 0.373 HNSCC(58;0.16) 53 48 --- --- --- --- PASS EGR2 1959 broad.mit.edu 37 10 64573229 64573229 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:64573229C>G uc010qim.1 - 3 1323 c.1169G>C c.(1168-1170)CGC>CCC p.R390P EGR2_uc010qin.1_Missense_Mutation_p.R340P|EGR2_uc001jmi.2_Missense_Mutation_p.R390P|EGR2_uc010qio.1_Missense_Mutation_p.R403P|EGR2_uc009xph.2_Missense_Mutation_p.R390P NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 390 C2H2-type 2. fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GGTGTGGGTGCGGATATGGGT 0.587 28 197 --- --- --- --- PASS PLAU 5328 broad.mit.edu 37 10 75675040 75675040 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:75675040G>C uc001jwa.2 + 10 1148 c.1002G>C c.(1000-1002)ATG>ATC p.M334I C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.M317I|PLAU_uc010qkx.1_Missense_Mutation_p.M248I|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.M334I|PLAU_uc009xrq.1_Missense_Mutation_p.M298I NM_002658 NP_002649 P00749 UROK_HUMAN plasminogen activator, urokinase isoform 1 334 Peptidase S1. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity ovary(2)|kidney(1) 3 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) AGCTGAAAATGACTGTTGTGA 0.532 73 63 --- --- --- --- PASS NOC3L 64318 broad.mit.edu 37 10 96098477 96098477 + Missense_Mutation SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:96098477T>C uc001kjq.1 - 18 2067 c.1979A>G c.(1978-1980)GAT>GGT p.D660G NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 660 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) AAGCAGTAGATCTGTTTTGGG 0.393 47 47 --- --- --- --- PASS CYP17A1 1586 broad.mit.edu 37 10 104590510 104590510 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:104590510C>G uc001kwg.2 - 8 1648 c.1476G>C c.(1474-1476)AAG>AAC p.K492N C10orf26_uc009xxg.1_RNA NM_000102 NP_000093 P05093 CP17A_HUMAN cytochrome P450, family 17 492 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GCACCTTGATCTTCACTTTGA 0.587 15 17 --- --- --- --- PASS DUSP5 1847 broad.mit.edu 37 10 112270047 112270047 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:112270047G>T uc001kzd.2 + 4 1273 c.1018G>T c.(1018-1020)GGC>TGC p.G340C NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 340 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) TTCACTGATAGGCCATTTGCA 0.617 25 31 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118203982 118203982 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:118203982G>A uc001lcl.3 + 4 514 c.413G>A c.(412-414)CGT>CAT p.R138H NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 138 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AACAATCTCCGTGTTGTTGGT 0.353 114 78 --- --- --- --- PASS PNLIPRP1 5407 broad.mit.edu 37 10 118364922 118364922 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:118364922C>G uc001lco.1 + 12 1215 c.1197C>G c.(1195-1197)ACC>ACG p.T399T PNLIPRP1_uc001lcp.2_Silent_p.T399T NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 399 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) CAGGCTCAACCCATTCCTATG 0.408 80 77 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 127789652 127789652 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:127789652C>T uc001ljk.2 - 9 1322 c.909G>A c.(907-909)GCG>GCA p.A303A ADAM12_uc010qul.1_Silent_p.A254A|ADAM12_uc001ljm.2_Silent_p.A303A|ADAM12_uc001ljn.2_Silent_p.A300A|ADAM12_uc001ljl.3_Silent_p.A300A NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 303 Extracellular (Potential).|Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TGACAAGCTGCGCATTGTCAT 0.507 36 32 --- --- --- --- PASS KNDC1 85442 broad.mit.edu 37 10 135015346 135015346 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr10:135015346G>T uc001llz.1 + 17 3332 c.3331G>T c.(3331-3333)GTG>TTG p.V1111L KNDC1_uc001lma.1_Missense_Mutation_p.V1046L|KNDC1_uc001lmb.1_Missense_Mutation_p.V523L NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1111 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCACAACTACGTGAAGGACCT 0.726 5 3 --- --- --- --- PASS NLRP6 171389 broad.mit.edu 37 11 281085 281085 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:281085G>A uc010qvs.1 + 4 1351 c.1351G>A c.(1351-1353)GAG>AAG p.E451K NLRP6_uc010qvt.1_Missense_Mutation_p.E451K NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 451 NACHT. cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CCTGGCCCGCGAGGGCGTCCT 0.627 4 93 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1088759 1088759 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:1088759G>C uc001lsx.1 + 26 3571 c.3544G>C c.(3544-3546)GTC>CTC p.V1182L NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 1182 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) GAAGAAGTGTGTCACTGCAGA 0.602 9 9 --- --- --- --- PASS SMPD1 6609 broad.mit.edu 37 11 6413084 6413084 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:6413084G>C uc001mcw.2 + 2 963 c.789G>C c.(787-789)TTG>TTC p.L263F SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.L263F|SMPD1_uc009yew.2_Missense_Mutation_p.L262F NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 261 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) AGAGCCTGTTGAGTGGGCTGG 0.647 11 113 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17464794 17464794 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:17464794G>T uc001mnc.2 - 9 1524 c.1398C>A c.(1396-1398)GTC>GTA p.V466V ABCC8_uc010rcy.1_Silent_p.V465V NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 466 Helical; Name=9; (By similarity).|ABC transmembrane type-1 1. 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) GTAGAATGATGACAGCTGCTC 0.537 32 55 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22291958 22291958 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:22291958C>G uc001mqi.2 + 18 2316 c.1999C>G c.(1999-2001)CTT>GTT p.L667V ANO5_uc001mqj.2_Missense_Mutation_p.L666V NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 667 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TTTTGGACCCCTTGGGCTTTT 0.428 29 66 --- --- --- --- PASS LGR4 55366 broad.mit.edu 37 11 27402514 27402514 + Splice_Site SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:27402514C>G uc001mrj.3 - 8 1244 c.759_splice c.e8-1 p.L253_splice LGR4_uc001mrk.3_Splice_Site_p.L229_splice NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 ATGAAATCCTCTAGAAAGATA 0.299 8 65 --- --- --- --- PASS FBXO3 26273 broad.mit.edu 37 11 33763558 33763558 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:33763558C>G uc001muz.2 - 11 1340 c.1312G>C c.(1312-1314)GAT>CAT p.D438H FBXO3_uc010rej.1_Missense_Mutation_p.D125H|FBXO3_uc001muy.2_Missense_Mutation_p.D325H|FBXO3_uc009ykb.2_RNA NM_012175 NP_036307 Q9UK99 FBX3_HUMAN F-box only protein 3 isoform 1 438 Asp/Glu-rich (highly acidic). proteolysis nucleus ubiquitin-protein ligase activity pancreas(1) 1 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) TCTGCTGAATCATCAtcctcg 0.338 17 24 --- --- --- --- PASS ABTB2 25841 broad.mit.edu 37 11 34378571 34378571 + Missense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:34378571A>T uc001mvl.1 - 1 232 c.2T>A c.(1-3)ATG>AAG p.M1K NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCCGGCGCTCATGCTGTACAG 0.697 6 10 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47297746 47297746 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:47297746A>G uc001ner.1 + 4 1147 c.956A>G c.(955-957)GAG>GGG p.E319G MADD_uc001neq.2_Missense_Mutation_p.E319G|MADD_uc001nev.1_Missense_Mutation_p.E319G|MADD_uc001nes.1_Missense_Mutation_p.E319G|MADD_uc001net.1_Missense_Mutation_p.E319G|MADD_uc009yln.1_Missense_Mutation_p.E319G|MADD_uc001neu.1_Missense_Mutation_p.E319G|MADD_uc001nex.2_Missense_Mutation_p.E319G|MADD_uc001nez.2_Missense_Mutation_p.E319G|MADD_uc001new.2_Missense_Mutation_p.E319G NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 319 DENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) ATTCTGTTAGAGCACAAGGTG 0.418 25 55 --- --- --- --- PASS OR4X2 119764 broad.mit.edu 37 11 48267494 48267494 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:48267494C>T uc001ngs.1 + 1 839 c.839C>T c.(838-840)TCT>TTT p.S280F NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTCATCTACTCTCTGAGAAAT 0.458 14 62 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703185 55703185 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:55703185C>T uc010ris.1 - 1 692 c.692G>A c.(691-693)CGC>CAC p.R231H NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACTGAAAGAGCGGATCTTTAA 0.458 3 18 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55945005 55945005 + Silent SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:55945005C>A uc010rjb.1 + 1 912 c.912C>A c.(910-912)GCC>GCA p.A304A NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A304D(1) ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TGAAAAGGGCCATAGAAATGA 0.383 7 22 --- --- --- --- PASS TMX2 51075 broad.mit.edu 37 11 57506183 57506183 + Silent SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:57506183T>C uc001nlc.1 + 5 538 c.489T>C c.(487-489)TTT>TTC p.F163F CTNND1_uc001nlf.1_Intron|TMX2_uc001nld.1_Silent_p.F69F|TMX2_uc001nle.1_Silent_p.F125F|C11orf31_uc010rjx.1_5'Flank NM_015959 NP_057043 Q9Y320 TMX2_HUMAN thioredoxin domain containing 14 isoform 1 163 Cytoplasmic (Potential).|Thioredoxin. cell redox homeostasis integral to membrane 0 TGGAGTTCTTTGCCAATTGGT 0.488 64 114 --- --- --- --- PASS OR1S1 219959 broad.mit.edu 37 11 57982687 57982687 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:57982687C>T uc010rkc.1 + 1 471 c.471C>T c.(469-471)CTC>CTT p.L157L NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) GCATTTTGCTCACAGTCATCT 0.468 7 232 --- --- --- --- PASS FAM111A 63901 broad.mit.edu 37 11 58920951 58920951 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:58920951G>C uc010rkp.1 + 5 2037 c.1810G>C c.(1810-1812)GAA>CAA p.E604Q FAM111A_uc010rkq.1_Missense_Mutation_p.E604Q|FAM111A_uc010rkr.1_Missense_Mutation_p.E604Q|FAM111A_uc001nno.2_Missense_Mutation_p.E604Q|FAM111A_uc001nnp.2_Missense_Mutation_p.E604Q|FAM111A_uc001nnq.2_Missense_Mutation_p.E604Q NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 604 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) GCAGGATGTAGAAATGATGAG 0.358 7 72 --- --- --- --- PASS OR4D11 219986 broad.mit.edu 37 11 59271208 59271208 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:59271208C>T uc001noa.1 + 1 160 c.160C>T c.(160-162)CGC>TGC p.R54C NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTGTGAGTCTCGCCTTCACAC 0.498 8 233 --- --- --- --- PASS OR4D11 219986 broad.mit.edu 37 11 59271475 59271475 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:59271475G>C uc001noa.1 + 1 427 c.427G>C c.(427-429)GCC>CCC p.A143P NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCAATGCACTGCCCTCATCTC 0.532 59 92 --- --- --- --- PASS MS4A6A 64231 broad.mit.edu 37 11 59945733 59945733 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:59945733C>A uc001nor.2 - 4 577 c.339G>T c.(337-339)TTG>TTT p.L113F MS4A6A_uc001noq.2_Missense_Mutation_p.L113F|MS4A6A_uc001nos.3_Missense_Mutation_p.L141F|MS4A6A_uc009ymv.2_Missense_Mutation_p.L113F|MS4A6A_uc001not.2_Missense_Mutation_p.L113F|MS4A6A_uc010rla.1_Missense_Mutation_p.L141F|MS4A6A_uc010rlb.1_Missense_Mutation_p.L68F NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 113 Cytoplasmic (Potential). integral to membrane receptor activity 0 TCTTACTCACCAAAAGCTTGG 0.368 10 78 --- --- --- --- PASS DAK 26007 broad.mit.edu 37 11 61110288 61110288 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:61110288C>G uc001nre.2 + 10 1094 c.837C>G c.(835-837)ATC>ATG p.I279M DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.I209M NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 279 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 AACTGGGCATCATAGCCGACG 0.527 4 66 --- --- --- --- PASS ATG2A 23130 broad.mit.edu 37 11 64670836 64670836 + Missense_Mutation SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:64670836T>C uc001obx.2 - 26 3651 c.3536A>G c.(3535-3537)GAT>GGT p.D1179G ATG2A_uc001obw.2_5'UTR NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1179 protein binding ovary(1)|central_nervous_system(1) 2 ACAGACATAATCTGCAGCAGA 0.577 OREG0004027 type=REGULATORY REGION|Gene=BC053596|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 53 --- --- --- --- PASS SNX32 254122 broad.mit.edu 37 11 65618269 65618269 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:65618269G>C uc001ofr.2 + 6 673 c.546G>C c.(544-546)CTG>CTC p.L182L NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 182 cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) GAGGGTTTCTGAGGAATATTG 0.592 3 29 --- --- --- --- PASS LRFN4 78999 broad.mit.edu 37 11 66626556 66626556 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:66626556C>T uc001ojr.2 + 1 1681 c.1341C>T c.(1339-1341)CTC>CTT p.L447L PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 447 Extracellular (Potential).|Fibronectin type-III. integral to membrane 0 ATGAGACCCTCATCTACCGGT 0.652 9 103 --- --- --- --- PASS MYEOV 26579 broad.mit.edu 37 11 69063147 69063147 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:69063147G>T uc001oov.2 + 3 680 c.230G>T c.(229-231)CGG>CTG p.R77L MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R77L|MYEOV_uc001oow.2_Missense_Mutation_p.R19L NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 77 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GGCAGATCCCGGGGCCGCCTC 0.612 22 85 --- --- --- --- PASS ARAP1 116985 broad.mit.edu 37 11 72409030 72409030 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:72409030C>G uc001osu.2 - 19 2852 c.2663G>C c.(2662-2664)GGC>GCC p.G888A ARAP1_uc001osv.2_Missense_Mutation_p.G888A|ARAP1_uc001osr.2_Missense_Mutation_p.G648A|ARAP1_uc001oss.2_Missense_Mutation_p.G643A|ARAP1_uc009yth.2_Missense_Mutation_p.G582A|ARAP1_uc010rre.1_Missense_Mutation_p.G643A|ARAP1_uc001osw.1_Missense_Mutation_p.G176A NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 888 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 GAGCTCCGAGCCACTGAGAGA 0.652 11 20 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82880471 82880471 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:82880471G>C uc001ozx.3 + 8 3439 c.3094G>C c.(3094-3096)GAA>CAA p.E1032Q PCF11_uc010rsu.1_Missense_Mutation_p.E1163Q NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 1032 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 TCCAAGATTTGAAGGTTGTCA 0.493 17 31 --- --- --- --- PASS BIRC3 330 broad.mit.edu 37 11 102207664 102207664 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:102207664G>A uc001pgx.2 + 10 1868 c.1646G>A c.(1645-1647)CGG>CAG p.R549Q NM_182962 NP_892007 Q13489 BIRC3_HUMAN baculoviral IAP repeat-containing protein 3 549 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|skin(1) 4 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) GAACAATTGCGGAGACTACAA 0.343 T MALT1 MALT 20 38 --- --- --- --- PASS C11orf65 160140 broad.mit.edu 37 11 108253848 108253848 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:108253848G>A uc001pkh.2 - 9 912 c.842C>T c.(841-843)TCA>TTA p.S281L C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_RNA NM_152587 NP_689800 Q8NCR3 CK065_HUMAN hypothetical protein LOC160140 281 ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) TTGCATCTTTGATATGTCTCC 0.308 4 113 --- --- --- --- PASS CADM1 23705 broad.mit.edu 37 11 115099956 115099956 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:115099956T>A uc001ppi.3 - 5 727 c.598A>T c.(598-600)ACT>TCT p.T200S CADM1_uc001ppf.3_Missense_Mutation_p.T200S|CADM1_uc001ppk.3_Missense_Mutation_p.T200S|CADM1_uc001ppj.3_Missense_Mutation_p.T200S|CADM1_uc001ppl.2_Missense_Mutation_p.T200S NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 200 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) CTGGTCACAGTGTACATGTCT 0.517 19 36 --- --- --- --- PASS GRIK4 2900 broad.mit.edu 37 11 120811158 120811158 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:120811158C>A uc001pxn.2 + 14 1866 c.1579C>A c.(1579-1581)CGC>AGC p.R527S GRIK4_uc009zav.1_Missense_Mutation_p.R527S|GRIK4_uc009zaw.1_Missense_Mutation_p.R527S|GRIK4_uc009zax.1_Missense_Mutation_p.R527S NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 527 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CATTCTTTACCGCGTTCATAT 0.398 3 82 --- --- --- --- PASS OR8B3 390271 broad.mit.edu 37 11 124267208 124267208 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr11:124267208G>A uc010saj.1 - 1 40 c.40C>T c.(40-42)CTT>TTT p.L14F OR8B2_uc001qab.3_RNA NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AATCCAGCAAGAATAAATTCA 0.383 10 20 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2676922 2676922 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:2676922C>G uc009zdu.1 + 13 2170 c.1857C>G c.(1855-1857)CTC>CTG p.L619L CACNA1C_uc009zdv.1_Silent_p.L616L|CACNA1C_uc001qkb.2_Silent_p.L619L|CACNA1C_uc001qkc.2_Silent_p.L619L|CACNA1C_uc001qke.2_Silent_p.L619L|CACNA1C_uc001qkf.2_Silent_p.L619L|CACNA1C_uc001qjz.2_Silent_p.L619L|CACNA1C_uc001qkd.2_Silent_p.L619L|CACNA1C_uc001qkg.2_Silent_p.L619L|CACNA1C_uc009zdw.1_Silent_p.L619L|CACNA1C_uc001qkh.2_Silent_p.L619L|CACNA1C_uc001qkl.2_Silent_p.L619L|CACNA1C_uc001qkn.2_Silent_p.L619L|CACNA1C_uc001qko.2_Silent_p.L619L|CACNA1C_uc001qkp.2_Silent_p.L619L|CACNA1C_uc001qkr.2_Silent_p.L619L|CACNA1C_uc001qku.2_Silent_p.L619L|CACNA1C_uc001qkq.2_Silent_p.L619L|CACNA1C_uc001qks.2_Silent_p.L619L|CACNA1C_uc001qkt.2_Silent_p.L619L|CACNA1C_uc001qka.1_Silent_p.L154L|CACNA1C_uc001qki.1_Silent_p.L355L|CACNA1C_uc001qkj.1_Silent_p.L355L|CACNA1C_uc001qkk.1_Silent_p.L355L|CACNA1C_uc001qkm.1_Silent_p.L355L NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 619 II.|Helical; Name=S4 of repeat II; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCTCCGTGCTCAGATGCGTCC 0.567 3 26 --- --- --- --- PASS KCNA6 3742 broad.mit.edu 37 12 4920788 4920788 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:4920788G>T uc001qng.2 + 1 2447 c.1581G>T c.(1579-1581)ACG>ACT p.T527T NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 527 PDZ-binding (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 GAATGCTCACGGAGGTCTGAC 0.557 HNSCC(72;0.22) 3 92 --- --- --- --- PASS CHD4 1108 broad.mit.edu 37 12 6696654 6696654 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:6696654C>G uc001qpo.2 - 25 3939 c.3775G>C c.(3775-3777)GAC>CAC p.D1259H CHD4_uc001qpn.2_Missense_Mutation_p.D1252H|CHD4_uc001qpp.2_Missense_Mutation_p.D1256H NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1259 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGGTTACGGTCTAGCAGCCGT 0.453 12 182 --- --- --- --- PASS FOXJ2 55810 broad.mit.edu 37 12 8203146 8203146 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:8203146C>T uc001qtu.2 + 10 2651 c.1566C>T c.(1564-1566)CCC>CCT p.P522P NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN forkhead box J2 522 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 Kidney(36;0.0944) CACAAGCTCCCCACCTCTACC 0.527 54 75 --- --- --- --- PASS PRB2 653247 broad.mit.edu 37 12 11546403 11546403 + Silent SNP T G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:11546403T>G uc010shk.1 - 3 644 c.609A>C c.(607-609)GGA>GGC p.G203G NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GTGGGGGTGGTCCTTGTGGCT 0.602 88 207 --- --- --- --- PASS PIK3C2G 5288 broad.mit.edu 37 12 18435469 18435469 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:18435469G>T uc001rdt.2 + 2 570 c.454G>T c.(454-456)GAT>TAT p.D152Y PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.D152Y|PIK3C2G_uc010sic.1_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 152 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) CACAAGTTTGGATAAAATTAA 0.343 4 50 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19489488 19489488 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:19489488T>A uc001reb.2 + 16 2265 c.2179T>A c.(2179-2181)TAC>AAC p.Y727N PLEKHA5_uc010sie.1_Missense_Mutation_p.Y830N|PLEKHA5_uc001rea.2_Missense_Mutation_p.Y785N|PLEKHA5_uc009zin.2_Missense_Mutation_p.Y485N|PLEKHA5_uc010sif.1_Missense_Mutation_p.Y658N|PLEKHA5_uc010sig.1_Missense_Mutation_p.Y646N|PLEKHA5_uc010sih.1_Missense_Mutation_p.Y619N|PLEKHA5_uc001rec.1_Missense_Mutation_p.Y473N|PLEKHA5_uc009zio.2_Missense_Mutation_p.Y49N NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 727 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) TAAGTTAGAATACGATGTAAC 0.343 23 54 --- --- --- --- PASS PFKM 5213 broad.mit.edu 37 12 48528749 48528749 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:48528749C>G uc001rrc.2 + 9 941 c.771C>G c.(769-771)CTC>CTG p.L257L PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Silent_p.L328L|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Silent_p.L257L|PFKM_uc001rrg.1_Silent_p.L257L NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle 257 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 GTTCTCGTCTCAACATCATCA 0.463 44 67 --- --- --- --- PASS H1FNT 341567 broad.mit.edu 37 12 48723390 48723390 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:48723390G>C uc001rrm.2 + 1 628 c.316G>C c.(316-318)GCC>CCC p.A106P NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 106 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 GCAGGCCAAGGCCACGCTCCT 0.682 3 32 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49427912 49427912 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:49427912C>T uc001rta.3 - 38 10678 c.10678G>A c.(10678-10680)GAT>AAT p.D3560N NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3560 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTCTCAGCATCAGCTTCTGGG 0.552 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 11 76 --- --- --- --- PASS KRT81 3887 broad.mit.edu 37 12 52680957 52680957 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:52680957C>G uc001sab.2 - 7 1226 c.1176G>C c.(1174-1176)GTG>GTC p.V392V KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Silent_p.V11V NM_002281 NP_002272 Q14533 KRT81_HUMAN keratin, hair, basic, 1 392 Rod.|Coil 2. keratin filament protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.189) TGGAGTTCATCACCTCCTGGT 0.657 6 133 --- --- --- --- PASS KRT81 3887 broad.mit.edu 37 12 52681494 52681494 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:52681494C>A uc001sab.2 - 6 962 c.912G>T c.(910-912)ATG>ATT p.M304I KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron NM_002281 NP_002272 Q14533 KRT81_HUMAN keratin, hair, basic, 1 304 Rod.|Coil 2. keratin filament protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.189) CCGTGGCCTTCATCTCCTCAC 0.542 4 55 --- --- --- --- PASS HOXC10 3226 broad.mit.edu 37 12 54379211 54379211 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:54379211G>T uc001sen.2 + 1 266 c.168G>T c.(166-168)AGG>AGT p.R56S NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 56 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 TCTCCAAGAGGGACGAGGGCA 0.647 25 31 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54903687 54903687 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:54903687G>T uc001sgc.3 + 7 732 c.653G>T c.(652-654)GGG>GTG p.G218V NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.G168V NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 218 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 AGAAACCAGGGGGCTGAGCAG 0.517 93 123 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54903688 54903688 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:54903688G>T uc001sgc.3 + 7 733 c.654G>T c.(652-654)GGG>GGT p.G218G NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.G168G NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 218 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GAAACCAGGGGGCTGAGCAGT 0.517 91 123 --- --- --- --- PASS PDE1B 5153 broad.mit.edu 37 12 54964134 54964134 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:54964134G>T uc001sgd.1 + 6 753 c.587G>T c.(586-588)CGC>CTC p.R196L PDE1B_uc010soz.1_Missense_Mutation_p.R59L|PDE1B_uc010spa.1_Missense_Mutation_p.R155L|PDE1B_uc001sgf.2_Missense_Mutation_p.R59L|PDE1B_uc001sge.2_Missense_Mutation_p.R176L|PDE1B_uc009znq.2_5'UTR NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 196 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTCATCAGCCGCTTCAAGGTT 0.502 50 78 --- --- --- --- PASS KIAA0748 9840 broad.mit.edu 37 12 55356572 55356572 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:55356572C>T uc001sgn.3 - 9 1220 c.1110G>A c.(1108-1110)CAG>CAA p.Q370Q KIAA0748_uc001sgl.3_Silent_p.Q232Q|KIAA0748_uc001sgm.3_Silent_p.Q117Q|KIAA0748_uc010spb.1_Silent_p.Q117Q|KIAA0748_uc010spc.1_Silent_p.Q232Q|KIAA0748_uc010spd.1_Silent_p.Q370Q|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 370 ovary(1)|central_nervous_system(1) 2 TGGACATCCTCTGCTGTGTTT 0.522 5 64 --- --- --- --- PASS GLIPR1L2 144321 broad.mit.edu 37 12 75785038 75785038 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:75785038G>A uc001sxr.1 + 1 150 c.142G>A c.(142-144)GAG>AAG p.E48K CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.E48K|GLIPR1L2_uc001sxq.1_5'UTR NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 48 integral to membrane ovary(1) 1 TTTGCCAGACGAGGAGGACGT 0.562 OREG0021999 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 103 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78225318 78225318 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:78225318T>A uc001syp.2 + 1 250 c.77T>A c.(76-78)ATA>AAA p.I26K NAV3_uc001syo.2_Missense_Mutation_p.I26K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 26 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GCTCTTCCGATACCAAATCTT 0.458 HNSCC(70;0.22) 98 127 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78594313 78594313 + Missense_Mutation SNP A C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:78594313A>C uc001syp.2 + 38 6949 c.6776A>C c.(6775-6777)GAT>GCT p.D2259A NAV3_uc001syo.2_Missense_Mutation_p.D2237A|NAV3_uc010sub.1_Missense_Mutation_p.D1716A|NAV3_uc009zsf.2_Missense_Mutation_p.D1068A NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2259 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGGTTCATGGATCTCTGGAAC 0.338 HNSCC(70;0.22) 49 77 --- --- --- --- PASS DCN 1634 broad.mit.edu 37 12 91552164 91552164 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:91552164G>A uc001tbs.2 - 3 541 c.447C>T c.(445-447)CCC>CCT p.P149P DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Silent_p.P149P|DCN_uc001tbu.2_Silent_p.P149P NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 149 LRR 4. organ morphogenesis extracellular space central_nervous_system(2)|ovary(1)|lung(1) 4 GAAGAGTTTTGGGCATTTTTT 0.418 76 97 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94620959 94620959 + Missense_Mutation SNP G C C rs143304608 TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:94620959G>C uc001tdc.2 + 9 2177 c.1928G>C c.(1927-1929)GGA>GCA p.G643A NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 643 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 AAGACATCAGGAGGAGGAAGA 0.468 4 90 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94691141 94691141 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:94691141G>A uc001tdc.2 + 26 4265 c.4016G>A c.(4015-4017)CGA>CAA p.R1339Q PLXNC1_uc010sut.1_Missense_Mutation_p.R386Q|PLXNC1_uc009zsv.2_Missense_Mutation_p.R78Q NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1339 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 AAGAGACATCGAGGGAAGCAC 0.463 15 23 --- --- --- --- PASS ALDH2 217 broad.mit.edu 37 12 112247365 112247365 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:112247365C>G uc001tst.2 + 13 1981 c.1540C>G c.(1540-1542)CAG>GAG p.Q514E ALDH2_uc010syi.1_Missense_Mutation_p.Q467E|ALDH2_uc009zvy.2_Missense_Mutation_p.Q438E NM_000690 NP_000681 P05091 ALDH2_HUMAN mitochondrial aldehyde dehydrogenase 2 514 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity skin(2)|ovary(1)|central_nervous_system(1) 4 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CAAAGTGCCTCAGAAGAACTC 0.478 T HMGA2 leiomyoma 36 49 --- --- --- --- PASS OAS1 4938 broad.mit.edu 37 12 113346551 113346551 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:113346551G>C uc001tud.2 + 2 497 c.391G>C c.(391-393)GCG>CCG p.A131P OAS1_uc010syn.1_Missense_Mutation_p.A130P|OAS1_uc010syo.1_Missense_Mutation_p.A130P|OAS1_uc001tub.2_Missense_Mutation_p.A131P|OAS1_uc001tuc.2_Missense_Mutation_p.A131P|OAS1_uc009zwf.2_Missense_Mutation_p.A130P NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 131 Necessary for binding to dsRNA. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 CAACCCCCGTGCGCTCAGCTT 0.572 45 60 --- --- --- --- PASS RASAL1 8437 broad.mit.edu 37 12 113544952 113544952 + Nonsense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr12:113544952G>C uc001tum.1 - 16 1900 c.1607C>G c.(1606-1608)TCA>TGA p.S536* RASAL1_uc010syp.1_Nonsense_Mutation_p.S536*|RASAL1_uc001tul.2_Nonsense_Mutation_p.S536*|RASAL1_uc001tun.1_Nonsense_Mutation_p.S537*|RASAL1_uc010syq.1_Nonsense_Mutation_p.S536*|RASAL1_uc001tuo.3_Nonsense_Mutation_p.S536*|RASAL1_uc010syr.1_3'UTR NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 536 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 TCTCACACGTGAGACACACTG 0.607 4 63 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26129135 26129135 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr13:26129135G>A uc001uqk.2 + 13 1334 c.1192G>A c.(1192-1194)GAT>AAT p.D398N ATP8A2_uc010tdi.1_Missense_Mutation_p.D358N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.D358N NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 358 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCAGGACACAGATATGTATTA 0.388 4 96 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70514251 70514251 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr13:70514251G>A uc001vip.2 - 4 1729 c.935C>T c.(934-936)TCT>TTT p.S312F KLHL1_uc010thm.1_Missense_Mutation_p.S251F NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 312 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TAAACAGTTAGATGGATGCAA 0.468 9 27 --- --- --- --- PASS GAS6 2621 broad.mit.edu 37 13 114541067 114541067 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr13:114541067G>C uc001vud.2 - 6 717 c.564C>G c.(562-564)CTC>CTG p.L188L GAS6_uc001vuf.2_5'Flank NM_000820 NP_000811 Q14393 GAS6_HUMAN growth arrest-specific 6 isoform 1 precursor 188 EGF-like 2; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4) 4 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CATCAGAGGAGAGCTCGAAGC 0.592 14 111 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20216323 20216323 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr14:20216323C>G uc010tkt.1 + 1 737 c.737C>G c.(736-738)ACA>AGA p.T246R NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCACCTGACAGTGGTCAGC 0.453 44 76 --- --- --- --- PASS ADCY4 196883 broad.mit.edu 37 14 24792232 24792232 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr14:24792232G>C uc001wov.2 - 18 2226 c.2220C>G c.(2218-2220)TTC>TTG p.F740L ADCY4_uc001wow.2_Missense_Mutation_p.F740L|ADCY4_uc010toh.1_Missense_Mutation_p.F426L|ADCY4_uc001wox.2_Missense_Mutation_p.F740L|ADCY4_uc001woy.2_Missense_Mutation_p.F740L NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 740 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GCTTCAGCTCGAAGCTCATGT 0.632 4 34 --- --- --- --- PASS EGLN3 112399 broad.mit.edu 37 14 34419786 34419786 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr14:34419786T>A uc001wsa.3 - 1 499 c.173A>T c.(172-174)GAC>GTC p.D58V EGLN3_uc001wry.2_Intron|EGLN3_uc001wrz.2_Missense_Mutation_p.D58V|EGLN3_uc001wsb.1_Missense_Mutation_p.D58V NM_022073 NP_071356 Q9H6Z9 EGLN3_HUMAN egl nine homolog 3 58 apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding 0 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) CAGCTGGCCGTCCCGCAGGGC 0.716 8 16 --- --- --- --- PASS PPIL5 122769 broad.mit.edu 37 14 50074710 50074710 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr14:50074710G>A uc001wwn.2 + 3 1199 c.875G>A c.(874-876)AGA>AAA p.R292K SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Missense_Mutation_p.R233K|PPIL5_uc001wwp.2_RNA NM_152329 NP_689542 Q96L50 LLR1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 5 292 LRR 6. 0 all_epithelial(31;0.0021)|Breast(41;0.0124) AGTGAATTTAGAAATTTATCC 0.333 3 54 --- --- --- --- PASS WDHD1 11169 broad.mit.edu 37 14 55408302 55408302 + Missense_Mutation SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr14:55408302T>C uc001xbm.1 - 26 3374 c.3296A>G c.(3295-3297)AAA>AGA p.K1099R WDHD1_uc010aom.1_Missense_Mutation_p.K616R|WDHD1_uc001xbn.1_Missense_Mutation_p.K976R NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 1099 cytoplasm|nucleoplasm DNA binding skin(1) 1 CTCTTTTGCTTTTTCTTCCTG 0.373 31 55 --- --- --- --- PASS FUT8 2530 broad.mit.edu 37 14 66209111 66209111 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr14:66209111C>G uc001xin.2 + 11 2908 c.1711C>G c.(1711-1713)CCT>GCT p.P571A FUT8_uc001xio.2_Missense_Mutation_p.P571A|FUT8_uc010tsp.1_Missense_Mutation_p.P408A|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.P571A|FUT8_uc001xiq.2_Missense_Mutation_p.P442A|FUT8_uc001xis.2_Missense_Mutation_p.P165A NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 571 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CCCCACATATCCTGAGGCTGA 0.438 4 57 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102498739 102498739 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr14:102498739C>T uc001yks.2 + 52 10178 c.10014C>T c.(10012-10014)ATC>ATT p.I3338I NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3338 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GGAAGCAGATCCGCTCCATCA 0.562 38 59 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29400588 29400588 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:29400588G>C uc001zck.2 + 12 2240 c.2033G>C c.(2032-2034)GGA>GCA p.G678A APBA2_uc010azj.2_Missense_Mutation_p.G666A|APBA2_uc010uat.1_Missense_Mutation_p.G666A|APBA2_uc001zcl.2_Missense_Mutation_p.G666A NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 678 PDZ 2. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GTGCAGAATGGAATTGTGAGT 0.617 25 60 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34135745 34135745 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:34135745C>A uc001zhi.2 + 92 13336 c.13266C>A c.(13264-13266)TTC>TTA p.F4422L RYR3_uc010bar.2_Missense_Mutation_p.F4417L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4422 Helical; Name=M5; (Potential). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGTAGCCTTCGCTATCAACT 0.393 14 11 --- --- --- --- PASS BUB1B 701 broad.mit.edu 37 15 40498506 40498506 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:40498506C>G uc001zkx.3 + 15 2068 c.1856C>G c.(1855-1857)TCC>TGC p.S619C BUB1B_uc010ucl.1_Missense_Mutation_p.S487C NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 619 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) CGTTTTGTATCCACTCCTTTT 0.453 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 9 68 --- --- --- --- PASS BUB1B 701 broad.mit.edu 37 15 40498627 40498627 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:40498627C>T uc001zkx.3 + 15 2189 c.1977C>T c.(1975-1977)ATC>ATT p.I659I BUB1B_uc010ucl.1_Silent_p.I527I NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 659 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GTGGCACTATCTACAGTCAGA 0.448 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 13 119 --- --- --- --- PASS PLCB2 5330 broad.mit.edu 37 15 40594805 40594805 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:40594805C>G uc001zld.2 - 4 538 c.237G>C c.(235-237)CAG>CAC p.Q79H PLCB2_uc010bbo.2_Missense_Mutation_p.Q79H|PLCB2_uc010ucm.1_Missense_Mutation_p.Q79H|PLCB2_uc001zle.3_Missense_Mutation_p.Q79H NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 79 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CCCGGAGCTTCTGGCTCTGCA 0.597 4 51 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 42005472 42005472 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:42005472C>A uc001zog.1 + 9 3299 c.3208C>A c.(3208-3210)CAC>AAC p.H1070N MGA_uc010ucy.1_Missense_Mutation_p.H1070N|MGA_uc010ucz.1_Missense_Mutation_p.H1070N NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 1070 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CCAACCTGCTCACTGCCGCCG 0.468 14 101 --- --- --- --- PASS EHD4 30844 broad.mit.edu 37 15 42201981 42201981 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:42201981G>C uc001zot.2 - 5 1068 c.1005C>G c.(1003-1005)ATC>ATG p.I335M NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 335 endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GTAGCCTGCTGATAAGCTCTC 0.493 9 119 --- --- --- --- PASS ONECUT1 3175 broad.mit.edu 37 15 53081346 53081346 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:53081346C>A uc002aci.1 - 1 864 c.736G>T c.(736-738)GGC>TGC p.G246C NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 246 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) GGAGGAAGGCCGTTGATGGGC 0.726 56 69 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63111816 63111816 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:63111816G>C uc002alb.3 + 50 6873 c.6873G>C c.(6871-6873)ATG>ATC p.M2291I TLN2_uc002alc.3_Missense_Mutation_p.M684I|TLN2_uc010uic.1_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 2291 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CGGAAGCCATGAAAGGTAGGC 0.572 3 69 --- --- --- --- PASS ZWILCH 55055 broad.mit.edu 37 15 66828295 66828295 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:66828295G>A uc002aqb.2 + 15 1612 c.1366G>A c.(1366-1368)GAT>AAT p.D456N ZWILCH_uc010bhu.1_Missense_Mutation_p.D342N|ZWILCH_uc002aqa.2_Missense_Mutation_p.D342N|ZWILCH_uc010bhv.2_Missense_Mutation_p.D342N NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch 456 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 TCCATCAGTAGATATACAAGA 0.333 7 75 --- --- --- --- PASS PAQR5 54852 broad.mit.edu 37 15 69677078 69677078 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:69677078C>A uc002arz.2 + 5 620 c.242C>A c.(241-243)TCC>TAC p.S81Y PAQR5_uc002asa.2_Missense_Mutation_p.S81Y NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 81 Helical; Name=2; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding ovary(2) 2 GACAGCTACTCCTGGCCCATG 0.522 12 189 --- --- --- --- PASS LARP6 55323 broad.mit.edu 37 15 71124721 71124721 + Nonsense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:71124721C>T uc002ass.2 - 3 1217 c.1146G>A c.(1144-1146)TGG>TGA p.W382* NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 382 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 AGGGGCTGCTCCAAGGACTTG 0.607 6 57 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85488008 85488008 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:85488008G>T uc002blg.2 + 18 1986 c.1784G>T c.(1783-1785)GGG>GTG p.G595V SLC28A1_uc010bnb.2_Missense_Mutation_p.G595V|SLC28A1_uc010upe.1_Missense_Mutation_p.G429V|SLC28A1_uc010upf.1_Missense_Mutation_p.G595V|SLC28A1_uc010upg.1_Intron NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 595 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATGCCCAGGGGGGCTGAAGTT 0.602 4 116 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 90999476 90999476 + Nonsense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:90999476G>T uc002bpl.1 + 15 1806 c.1705G>T c.(1705-1707)GAG>TAG p.E569* NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 569 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGCTAAACTTGAGGGAGTCCT 0.463 12 67 --- --- --- --- PASS FES 2242 broad.mit.edu 37 15 91428389 91428389 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr15:91428389C>G uc002bpv.2 + 2 210 c.114C>G c.(112-114)GTC>GTG p.V38V FES_uc010uqj.1_Silent_p.V38V|FES_uc010uqk.1_Silent_p.V38V|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.V38V|FES_uc002bpx.2_Silent_p.V38V|FES_uc002bpy.2_Silent_p.V38V NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 38 FCH.|Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCCAGCGGGTCAAGAGTGACA 0.642 14 145 --- --- --- --- PASS PDPK1 5170 broad.mit.edu 37 16 2647199 2647199 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:2647199G>C uc002cqs.2 + 13 1621 c.1477G>C c.(1477-1479)GTT>CTT p.V493L PDPK1_uc002cqt.2_Missense_Mutation_p.V366L|PDPK1_uc010bsn.2_Intron|PDPK1_uc002cqu.2_Missense_Mutation_p.V466L NM_002613 NP_002604 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 493 PH. actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|ovary(1) 3 Ovarian(90;0.17) Celecoxib(DB00482) TGTCAACAAAGTTCTGAAAGG 0.428 5 96 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20492206 20492206 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:20492206C>T uc010bwe.2 + 13 1711 c.1472C>T c.(1471-1473)ACG>ATG p.T491M ACSM2A_uc010vax.1_Missense_Mutation_p.T412M|ACSM2A_uc002dhf.3_Missense_Mutation_p.T491M|ACSM2A_uc002dhg.3_Missense_Mutation_p.T491M|ACSM2A_uc010vay.1_Missense_Mutation_p.T412M|ACSM2A_uc002dhh.3_Missense_Mutation_p.T121M NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 491 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GTGGTTGAGACGGCTGTGATC 0.522 26 36 --- --- --- --- PASS GSG1L 146395 broad.mit.edu 37 16 27856301 27856301 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:27856301G>C uc002doz.2 - 4 717 c.632C>G c.(631-633)CCC>CGC p.P211R GSG1L_uc010bya.1_Missense_Mutation_p.P160R|GSG1L_uc010bxz.1_Missense_Mutation_p.P56R|GSG1L_uc002doy.2_Missense_Mutation_p.P56R NM_001109763 NP_001103233 Q6UXU4 GSG1L_HUMAN GSG1-like isoform 1 211 integral to membrane ovary(1) 1 CCAGGAATGGGGTCTCCAGTC 0.612 7 8 --- --- --- --- PASS SEZ6L2 26470 broad.mit.edu 37 16 29888751 29888751 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:29888751C>T uc002duq.3 - 11 1990 c.1750G>A c.(1750-1752)GAC>AAC p.D584N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.D514N|SEZ6L2_uc002dur.3_Missense_Mutation_p.D514N|SEZ6L2_uc002dus.3_Missense_Mutation_p.D470N|SEZ6L2_uc010vec.1_Missense_Mutation_p.D584N|SEZ6L2_uc010ved.1_Missense_Mutation_p.D540N NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 584 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CCGTCCCCGTCGAACAGCGTC 0.682 9 30 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51171035 51171035 + Silent SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:51171035G>T uc010vgs.1 - 3 3994 c.3963C>A c.(3961-3963)ATC>ATA p.I1321I SALL1_uc010vgr.1_Silent_p.I1224I|SALL1_uc010cbv.2_Silent_p.I173I NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1321 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) AACTCGTGACGATCTCCTTGC 0.592 16 25 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61854866 61854866 + Silent SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:61854866A>G uc002eog.1 - 6 1239 c.987T>C c.(985-987)GAT>GAC p.D329D CDH8_uc002eoh.2_Silent_p.D98D NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 329 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGGCCTGGGCATCAGAAGTGA 0.383 29 28 --- --- --- --- PASS ACD 65057 broad.mit.edu 37 16 67694088 67694088 + Nonsense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:67694088C>T uc002etq.3 - 1 631 c.294G>A c.(292-294)TGG>TGA p.W98* ACD_uc002etp.3_Nonsense_Mutation_p.W98*|ACD_uc002etr.3_Nonsense_Mutation_p.W98*|ACD_uc010vjt.1_Nonsense_Mutation_p.W88*|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 98 PWI. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GCTCCCGAATCCAGGGCCGTA 0.701 19 81 --- --- --- --- PASS NFATC3 4775 broad.mit.edu 37 16 68225270 68225270 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:68225270G>A uc002evo.1 + 9 2908 c.2698G>A c.(2698-2700)GAC>AAC p.D900N NFATC3_uc010vkl.1_Missense_Mutation_p.D421N|NFATC3_uc010vkm.1_Missense_Mutation_p.D421N|NFATC3_uc010vkn.1_Missense_Mutation_p.D421N|NFATC3_uc010vko.1_Missense_Mutation_p.D421N|NFATC3_uc010vkp.1_Missense_Mutation_p.D421N|NFATC3_uc010vkq.1_Missense_Mutation_p.D421N|NFATC3_uc002evl.2_Missense_Mutation_p.D421N|NFATC3_uc002evk.2_Missense_Mutation_p.D900N|NFATC3_uc002evm.1_Missense_Mutation_p.D900N|NFATC3_uc002evn.1_Missense_Mutation_p.D900N|NFATC3_uc010vkr.1_Missense_Mutation_p.D421N|NFATC3_uc010vks.1_Missense_Mutation_p.D421N|NFATC3_uc010vkt.1_Missense_Mutation_p.D421N|NFATC3_uc010vku.1_Missense_Mutation_p.D421N|NFATC3_uc010vkv.1_Missense_Mutation_p.D421N|NFATC3_uc010vkw.1_Missense_Mutation_p.D421N|NFATC3_uc010vkx.1_Missense_Mutation_p.D421N|NFATC3_uc010vky.1_Missense_Mutation_p.D421N|NFATC3_uc010vkz.1_Missense_Mutation_p.D421N|NFATC3_uc010vla.1_Missense_Mutation_p.D421N|NFATC3_uc010vlb.1_Missense_Mutation_p.D421N|NFATC3_uc010vlc.1_Missense_Mutation_p.D421N NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 900 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TCCAGTGGCTGACCAGATTAC 0.463 6 140 --- --- --- --- PASS CIRH1A 84916 broad.mit.edu 37 16 69170611 69170611 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:69170611C>G uc002ews.3 + 3 268 c.172C>G c.(172-174)CAT>GAT p.H58D CIRH1A_uc002ewr.2_Missense_Mutation_p.H58D|CIRH1A_uc002ewt.3_5'UTR|CIRH1A_uc010cfi.2_5'UTR NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 58 WD 2. nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) TTTCCCAGGTCATGAGTCTCG 0.463 14 289 --- --- --- --- PASS LDHD 197257 broad.mit.edu 37 16 75148111 75148111 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:75148111G>C uc002fdm.2 - 6 698 c.651C>G c.(649-651)ATC>ATG p.I217M LDHD_uc002fdn.2_Intron NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 217 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 TGTGATGAGGGATTTCTGGCC 0.632 5 194 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76574669 76574669 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:76574669G>C uc002feu.1 + 23 3809 c.3424G>C c.(3424-3426)GTA>CTA p.V1142L CNTNAP4_uc002fev.1_Missense_Mutation_p.V1006L|CNTNAP4_uc010chb.1_Missense_Mutation_p.V1069L|CNTNAP4_uc002fex.1_Missense_Mutation_p.V1145L NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1142 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CAAATCTCTGGTATTGGGCAG 0.368 6 9 --- --- --- --- PASS MPHOSPH6 10200 broad.mit.edu 37 16 82197736 82197736 + Missense_Mutation SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:82197736T>C uc002fgw.2 - 2 164 c.115A>G c.(115-117)ATT>GTT p.I39V NM_005792 NP_005783 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 39 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding 0 TCTTCACTAATGATTTTCTTT 0.353 38 74 --- --- --- --- PASS ZCCHC14 23174 broad.mit.edu 37 16 87451175 87451175 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:87451175G>A uc002fjz.1 - 8 890 c.863C>T c.(862-864)TCC>TTC p.S288F ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S64F NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 288 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) CTGCAGACTGGAAGGCATGAG 0.602 91 212 --- --- --- --- PASS ANKRD11 29123 broad.mit.edu 37 16 89345518 89345518 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr16:89345518G>T uc002fmx.1 - 9 7893 c.7432C>A c.(7432-7434)CTG>ATG p.L2478M ANKRD11_uc002fmy.1_Missense_Mutation_p.L2478M|ANKRD11_uc002fnc.1_Missense_Mutation_p.L2478M|ANKRD11_uc002fna.1_Missense_Mutation_p.L143M|ANKRD11_uc002fnb.1_Missense_Mutation_p.L2435M NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2478 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTGCCGTCCAGGAGGTAGGAG 0.647 11 27 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577153 7577153 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:7577153C>A uc002gim.2 - 8 979 c.785G>T c.(784-786)GGT>GTT p.G262V TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G262V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G130V|TP53_uc010cng.1_Missense_Mutation_p.G130V|TP53_uc002gii.1_Missense_Mutation_p.G130V|TP53_uc010cnh.1_Missense_Mutation_p.G262V|TP53_uc010cni.1_Missense_Mutation_p.G262V|TP53_uc002gij.2_Missense_Mutation_p.G262V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 262 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). GN -> PD (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G262V(11)|p.0?(7)|p.G262D(4)|p.G262fs*83(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G262del(2)|p.G262S(2)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.S261_G262insX(1)|p.G262fs*2(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGTAGATTACCACTACTCAG 0.517 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 10 --- --- --- --- PASS PIK3R6 146850 broad.mit.edu 37 17 8741176 8741176 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:8741176C>T uc002glq.1 - 5 442 c.202G>A c.(202-204)GAC>AAC p.D68N PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 68 platelet activation cytosol 0 TGCCGGAGGTCCTGGCTTTCC 0.582 11 64 --- --- --- --- PASS FOXN1 8456 broad.mit.edu 37 17 26861480 26861480 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:26861480C>G uc010crm.2 + 7 1257 c.1059C>G c.(1057-1059)ATC>ATG p.I353M FOXN1_uc002hbj.2_Missense_Mutation_p.I353M NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 353 Fork-head. defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) CGGCCAAGATCGACAAGATGC 0.567 32 49 --- --- --- --- PASS KIAA0100 9703 broad.mit.edu 37 17 26967585 26967585 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:26967585G>A uc002hbu.2 - 8 982 c.883C>T c.(883-885)CAA>TAA p.Q295* KIAA0100_uc002hbv.2_Nonsense_Mutation_p.Q295*|KIAA0100_uc010crr.1_Nonsense_Mutation_p.Q152* NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 295 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) CACCTCTTTTGACTATTCATG 0.488 52 61 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29548922 29548922 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:29548922C>G uc002hgg.2 + 15 2029 c.1696C>G c.(1696-1698)CCT>GCT p.P566A NF1_uc002hgf.1_Missense_Mutation_p.P566A|NF1_uc002hgh.2_Missense_Mutation_p.P566A|NF1_uc010csn.1_Missense_Mutation_p.P426A NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 566 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCCTGATGCTCCTGTAGAAAC 0.274 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 6 73 --- --- --- --- PASS MPP3 4356 broad.mit.edu 37 17 41879119 41879119 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:41879119C>G uc002iei.3 - 20 1874 c.1708G>C c.(1708-1710)GAG>CAG p.E570Q MPP3_uc002ieh.2_Missense_Mutation_p.E595Q|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 570 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CTCAGCTTCTCTAAGACCACT 0.423 21 165 --- --- --- --- PASS ATXN7L3 56970 broad.mit.edu 37 17 42271946 42271946 + Silent SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:42271946A>G uc002iga.2 - 11 925 c.834T>C c.(832-834)TCT>TCC p.S278S ATXN7L3_uc010wiv.1_Silent_p.S60S|ATXN7L3_uc002ifz.2_Silent_p.S285S NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 isoform b 278 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GTGAGAGGTCAGAGGAGCCGT 0.577 22 39 --- --- --- --- PASS HEXIM2 124790 broad.mit.edu 37 17 43246634 43246634 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:43246634G>C uc002iih.1 + 4 558 c.319G>C c.(319-321)GAG>CAG p.E107Q HEXIM2_uc010daf.1_Missense_Mutation_p.E129Q|HEXIM2_uc002iii.1_Missense_Mutation_p.E107Q|HEXIM2_uc002iij.1_Missense_Mutation_p.E107Q|uc002iik.1_RNA NM_144608 NP_653209 Q96MH2 HEXI2_HUMAN hexamthylene bis-acetamide inducible 2 107 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding 0 ACCCTACCTGGAGCTGAGCTG 0.672 4 62 --- --- --- --- PASS SKAP1 8631 broad.mit.edu 37 17 46474081 46474081 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:46474081C>T uc002ini.1 - 2 225 c.113G>A c.(112-114)AGA>AAA p.R38K SKAP1_uc002inj.1_Missense_Mutation_p.R38K|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.R38K NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 38 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 AATATGGTCTCTGTGATCCCT 0.378 112 309 --- --- --- --- PASS MKS1 54903 broad.mit.edu 37 17 56291733 56291733 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:56291733G>C uc002ivr.1 - 6 606 c.531C>G c.(529-531)CTC>CTG p.L177L MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Silent_p.L177L NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 177 cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 TGCGTGACTTGAGGATGCCGC 0.557 8 65 --- --- --- --- PASS ACE 1636 broad.mit.edu 37 17 61561865 61561865 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:61561865G>C uc002jau.1 + 12 1906 c.1884G>C c.(1882-1884)TGG>TGC p.W628C ACE_uc010ddu.1_Missense_Mutation_p.W445C|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 628 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGTACCAGTGGCACCCGCCGT 0.632 3 19 --- --- --- --- PASS CCDC46 201134 broad.mit.edu 37 17 64092382 64092382 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:64092382A>G uc002jfl.2 - 8 974 c.755T>C c.(754-756)ATA>ACA p.I252T CCDC46_uc002jfm.2_Missense_Mutation_p.I252T|CCDC46_uc010dep.2_Intron NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 252 centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TTTCTCACGTATTCGAGAGAG 0.323 54 91 --- --- --- --- PASS FAM104A 84923 broad.mit.edu 37 17 71228242 71228242 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr17:71228242G>A uc002jji.3 - 1 292 c.204C>T c.(202-204)AGC>AGT p.S68S FAM104A_uc002jjj.3_Silent_p.S68S|C17orf80_uc010wqu.1_5'Flank|C17orf80_uc010dfj.2_5'Flank|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.3_5'Flank|C17orf80_uc002jjl.3_5'Flank NM_032837 NP_116226 Q969W3 F104A_HUMAN hypothetical protein LOC84923 isoform 2 68 0 LUSC - Lung squamous cell carcinoma(166;0.197) GGAGGCGCTCGCTCATGGCAG 0.692 11 10 --- --- --- --- PASS HRH4 59340 broad.mit.edu 37 18 22057058 22057058 + Missense_Mutation SNP G T T rs116314403 by1000genomes TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr18:22057058G>T uc002kvi.2 + 3 805 c.705G>T c.(703-705)AGG>AGT p.R235S HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.R147S NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 235 Cytoplasmic (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TATCTTCAAGGAGATCTCTTT 0.453 26 92 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54424078 54424078 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr18:54424078G>C uc002lgk.1 + 15 2465 c.2254G>C c.(2254-2256)GAG>CAG p.E752Q WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.E752Q NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 752 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) AACGATCAAAGAGAACATCAA 0.433 7 33 --- --- --- --- PASS SERPINB5 5268 broad.mit.edu 37 18 61160277 61160277 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr18:61160277G>A uc002liz.3 + 5 658 c.516G>A c.(514-516)ATG>ATA p.M172I SERPINB5_uc002liy.2_Missense_Mutation_p.M172I NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 172 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 GCAAGTGGATGAAGAAATTTT 0.413 27 93 --- --- --- --- PASS SERPINB10 5273 broad.mit.edu 37 18 61600392 61600392 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr18:61600392C>T uc010xev.1 + 7 834 c.744C>T c.(742-744)CTC>CTT p.L248L SERPINB10_uc010xew.1_Silent_p.L248L NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 248 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) GCCGTGACCTCAGCCTGCTTA 0.403 14 199 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65180604 65180604 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr18:65180604G>A uc002lke.1 - 2 2496 c.1272C>T c.(1270-1272)AAC>AAT p.N424N NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 414 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) CCACACCCCAGTTAGGGAATG 0.488 25 44 --- --- --- --- PASS ADNP2 22850 broad.mit.edu 37 18 77895799 77895799 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr18:77895799G>T uc002lnw.2 + 4 2958 c.2503G>T c.(2503-2505)GGG>TGG p.G835W NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 835 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GGAGAAGCTTGGGGAGCGGGA 0.522 34 70 --- --- --- --- PASS PIP5K1C 23396 broad.mit.edu 37 19 3633507 3633507 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:3633507C>G uc002lyj.1 - 17 1989 c.1932G>C c.(1930-1932)GAG>GAC p.E644D PIP5K1C_uc010xhq.1_Intron NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 644 Mediates interaction with TLN2. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CCCAGCTCCTCTCATCGGTGG 0.692 3 20 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10465286 10465286 + Splice_Site SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:10465286C>G uc002moc.3 - 19 2996 c.2618_splice c.e19-1 p.N873_splice TYK2_uc010dxe.2_Splice_Site_p.N688_splice NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TCAGCAAGATCTGGAAGAGTT 0.572 7 54 --- --- --- --- PASS ZNF136 7695 broad.mit.edu 37 19 12298398 12298398 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:12298398A>G uc002mti.2 + 4 1305 c.1205A>G c.(1204-1206)CAT>CGT p.H402R ZNF136_uc010xmh.1_Missense_Mutation_p.H336R NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 402 C2H2-type 10. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 AAACCCTTTCATTCTCTGAGT 0.378 18 33 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24310330 24310330 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:24310330A>G uc002nru.2 + 4 1662 c.1528A>G c.(1528-1530)ATA>GTA p.I510V ZNF254_uc010xrk.1_Missense_Mutation_p.I425V NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 510 C2H2-type 11. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TACACATAAGATAATTCATAC 0.378 23 35 --- --- --- --- PASS ZNF507 22847 broad.mit.edu 37 19 32844195 32844195 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:32844195G>C uc002nte.2 + 3 731 c.459G>C c.(457-459)GTG>GTC p.V153V ZNF507_uc002ntc.2_Silent_p.V153V|ZNF507_uc010xrn.1_Silent_p.V153V|ZNF507_uc002ntd.2_Silent_p.V153V NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) AAAATGAAGTGATACTGATGT 0.418 9 121 --- --- --- --- PASS GPATCH1 55094 broad.mit.edu 37 19 33586724 33586724 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:33586724G>C uc002nug.1 + 6 924 c.610G>C c.(610-612)GAG>CAG p.E204Q NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 204 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GGAAGGATCTGAGGTATTGCA 0.413 10 179 --- --- --- --- PASS CHST8 64377 broad.mit.edu 37 19 34263690 34263690 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:34263690C>T uc002nus.3 + 5 1502 c.997C>T c.(997-999)CGG>TGG p.R333W CHST8_uc002nut.3_Missense_Mutation_p.R333W|CHST8_uc002nuu.2_Missense_Mutation_p.R333W NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 333 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) CCATGTCAGCCGGCTCTGCAG 0.632 43 36 --- --- --- --- PASS HAUS5 23354 broad.mit.edu 37 19 36113809 36113809 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:36113809G>C uc002oam.1 + 19 1867 c.1816G>C c.(1816-1818)GAG>CAG p.E606Q NM_015302 NP_056117 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 606 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle 0 CGCCCTCTCTGAGGAGCTCTG 0.657 10 101 --- --- --- --- PASS TMEM149 79713 broad.mit.edu 37 19 36230525 36230525 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:36230525G>T uc002obc.2 - 5 825 c.724C>A c.(724-726)CTG>ATG p.L242M TMEM149_uc002obb.2_Missense_Mutation_p.L54M|TMEM149_uc002obd.3_Missense_Mutation_p.L242M|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.L322M NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 242 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGACTGGACAGTTCTGGAAGA 0.627 3 92 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41063031 41063031 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:41063031G>A uc002ony.2 + 26 5478 c.5392G>A c.(5392-5394)GGC>AGC p.G1798S SPTBN4_uc002onx.2_Missense_Mutation_p.G1798S|SPTBN4_uc002onz.2_Missense_Mutation_p.G1798S|SPTBN4_uc010egx.2_Missense_Mutation_p.G541S|SPTBN4_uc002ooa.2_Missense_Mutation_p.G474S NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1798 Spectrin 15. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GATCGAGTGTGGCCATACAGC 0.627 41 22 --- --- --- --- PASS CYP2A13 1553 broad.mit.edu 37 19 41594860 41594860 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:41594860C>T uc002opt.2 + 2 216 c.207C>T c.(205-207)TTC>TTT p.F69F NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 69 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) GCCCTGTGTTCACCATTCACT 0.622 7 127 --- --- --- --- PASS HIF3A 64344 broad.mit.edu 37 19 46807269 46807269 + Silent SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:46807269C>G uc002peh.2 + 2 170 c.141C>G c.(139-141)GTC>GTG p.V47V HIF3A_uc002pef.1_Silent_p.V47V|HIF3A_uc002peg.3_Silent_p.V47V|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_5'UTR|HIF3A_uc002pej.1_Nonsense_Mutation_p.S27*|HIF3A_uc002pek.2_5'UTR|HIF3A_uc010xxy.1_Nonsense_Mutation_p.S27*|HIF3A_uc002pel.2_Silent_p.V45V|HIF3A_uc010xxz.1_Nonsense_Mutation_p.S45* NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 47 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCCGCGGCGTCAGCGCCCACC 0.697 2 16 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47422627 47422627 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:47422627C>A uc010ekv.2 + 1 695 c.695C>A c.(694-696)TCC>TAC p.S232Y NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 232 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TCAGCGAGATCCAATGTAAAC 0.433 14 126 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47425500 47425500 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:47425500G>C uc010ekv.2 + 1 3568 c.3568G>C c.(3568-3570)GAG>CAG p.E1190Q NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1190 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) CCGGAAGAAAGAGGAGGATCA 0.562 4 67 --- --- --- --- PASS NAPA 8775 broad.mit.edu 37 19 48018127 48018127 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:48018127G>C uc002pha.1 - 1 371 c.71C>G c.(70-72)TCG>TGG p.S24W NAPA_uc002phb.1_Missense_Mutation_p.S24W|NAPA_uc002phc.1_5'UTR|NAPA_uc002phd.1_Missense_Mutation_p.S24W|NAPA_uc010elf.1_5'UTR|NAPA_uc010elg.1_RNA|NAPA_uc002phe.2_Missense_Mutation_p.S24W NM_003827 NP_003818 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment 24 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol 0 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) GAAGGACTGCGAGTTCTTCAC 0.642 25 25 --- --- --- --- PASS GLTSCR1 29998 broad.mit.edu 37 19 48204587 48204587 + Nonsense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:48204587G>T uc002phh.3 + 15 3792 c.3598G>T c.(3598-3600)GAG>TAG p.E1200* GLTSCR1_uc002phi.3_Nonsense_Mutation_p.E958* NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1200 protein binding pancreas(3) 3 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) TTCTGCAGACGAGTACGTGTC 0.657 13 21 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49632235 49632235 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:49632235C>G uc002pmr.2 + 4 805 c.473C>G c.(472-474)TCT>TGT p.S158C PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.S82C|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.S26C NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 158 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GCTCTAAAGTCTCTCTTCGAG 0.562 3 78 --- --- --- --- PASS PRMT1 3276 broad.mit.edu 37 19 50185235 50185235 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:50185235C>T uc010enf.1 + 4 303 c.261C>T c.(259-261)TTC>TTT p.F87F PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.F63F|PRMT1_uc002ppe.2_Silent_p.F69F|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.F34F|PRMT1_uc010yba.1_RNA NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN HMT1 hnRNP methyltransferase-like 2 isoform 1 68 cytoplasm protein methyltransferase activity ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GGCACCTCTTCAAGGACAAGG 0.612 4 59 --- --- --- --- PASS ZNF581 51545 broad.mit.edu 37 19 56156399 56156399 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:56156399C>G uc002qln.2 + 2 1178 c.462C>G c.(460-462)TTC>TTG p.F154L ZNF581_uc002qlq.2_Missense_Mutation_p.F154L|CCDC106_uc002qlr.2_5'Flank NM_016535 NP_057619 Q9P0T4 ZN581_HUMAN zinc finger protein 581 154 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CTCGCCGCTTCCGGGATGCGG 0.677 6 151 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56467201 56467201 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:56467201C>T uc002qmh.2 + 3 1848 c.1777C>T c.(1777-1779)CTG>TTG p.L593L NLRP8_uc010etg.2_Silent_p.L593L NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 593 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGTCATACCTCTGTTGCATAA 0.507 3 69 --- --- --- --- PASS ZNF418 147686 broad.mit.edu 37 19 58437712 58437712 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr19:58437712G>T uc002qqs.1 - 4 2129 c.1837C>A c.(1837-1839)CAT>AAT p.H613N ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.H528N NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 613 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CCTCGAGTATGAAGTCTCTGA 0.453 24 97 --- --- --- --- PASS DEFB125 245938 broad.mit.edu 37 20 76774 76774 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:76774G>A uc002wcw.2 + 2 187 c.187G>A c.(187-189)GAA>AAA p.E63K NM_153325 NP_697020 Q8N687 DB125_HUMAN defensin, beta 125 preproprotein 63 defense response to bacterium extracellular region ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) AATATCACATGAATATACTCG 0.368 16 172 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961213 1961213 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:1961213C>T uc010gaj.2 - 3 763 c.521G>A c.(520-522)CGC>CAC p.R174H uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R174H|PDYN_uc010zpt.1_Missense_Mutation_p.R19H NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 174 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 GCCCCCATAGCGTTTGACCTG 0.582 26 84 --- --- --- --- PASS BPIL1 80341 broad.mit.edu 37 20 31598853 31598853 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:31598853C>T uc002wyj.2 + 3 327 c.133C>T c.(133-135)CTC>TTC p.L45F NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 45 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 GAAAGCCCCTCTCCAGCGGGC 0.607 20 122 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40080608 40080608 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:40080608C>T uc002xka.1 - 22 3559 c.3381G>A c.(3379-3381)GAG>GAA p.E1127E NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1127 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CCATGTCCTTCTCGTTCAGAT 0.517 6 111 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40713386 40713386 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:40713386G>A uc002xkg.2 - 29 4256 c.4072C>T c.(4072-4074)CGA>TGA p.R1358* PTPRT_uc010ggj.2_Nonsense_Mutation_p.R1377*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.R561* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1358 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCCAGTCGTCGGACCACTTTG 0.597 11 42 --- --- --- --- PASS HNF4A 3172 broad.mit.edu 37 20 43034759 43034759 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:43034759G>C uc002xma.2 + 2 266 c.177G>C c.(175-177)CTG>CTC p.L59L HNF4A_uc010zwo.1_Missense_Mutation_p.C50S|HNF4A_uc002xlt.2_Silent_p.L37L|HNF4A_uc002xlu.2_Silent_p.L37L|HNF4A_uc002xlv.2_Silent_p.L37L|HNF4A_uc002xly.2_Silent_p.L59L|HNF4A_uc002xlz.2_Silent_p.L59L|HNF4A_uc010ggq.2_Silent_p.L52L NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 59 Nuclear receptor. blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCAGCGCCCTGTGTGCCATCT 0.637 32 125 --- --- --- --- PASS ZSWIM3 140831 broad.mit.edu 37 20 44505750 44505750 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:44505750G>A uc002xqd.2 + 2 756 c.553G>A c.(553-555)GAT>AAT p.D185N ZSWIM3_uc010zxg.1_Missense_Mutation_p.D179N NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 185 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) TCTTAAGGTAGATGAGGGTTC 0.517 5 141 --- --- --- --- PASS ZMYND8 23613 broad.mit.edu 37 20 45905101 45905101 + Missense_Mutation SNP G T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:45905101G>T uc002xta.1 - 11 1631 c.1377C>A c.(1375-1377)TTC>TTA p.F459L ZMYND8_uc010ghq.1_Missense_Mutation_p.F136L|ZMYND8_uc010ghr.1_Missense_Mutation_p.F434L|ZMYND8_uc002xst.1_Missense_Mutation_p.F434L|ZMYND8_uc002xsu.1_Missense_Mutation_p.F459L|ZMYND8_uc002xsv.1_Missense_Mutation_p.F434L|ZMYND8_uc002xsw.1_Missense_Mutation_p.F211L|ZMYND8_uc002xsx.1_Missense_Mutation_p.F211L|ZMYND8_uc002xsy.1_Missense_Mutation_p.F434L|ZMYND8_uc002xsz.1_Missense_Mutation_p.F396L|ZMYND8_uc010zxy.1_Missense_Mutation_p.F486L|ZMYND8_uc002xtb.1_Missense_Mutation_p.F479L|ZMYND8_uc002xss.2_Missense_Mutation_p.F459L|ZMYND8_uc010zxz.1_Missense_Mutation_p.F454L|ZMYND8_uc002xtc.1_Missense_Mutation_p.F479L|ZMYND8_uc002xtd.1_Missense_Mutation_p.F454L|ZMYND8_uc002xte.1_Missense_Mutation_p.F459L|ZMYND8_uc010zya.1_Missense_Mutation_p.F459L|ZMYND8_uc002xtf.1_Missense_Mutation_p.F479L|ZMYND8_uc002xtg.2_Missense_Mutation_p.F453L|ZMYND8_uc010ghs.1_Missense_Mutation_p.F453L NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 459 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CGCTCGCACTGAAGTGGCTCG 0.627 3 29 --- --- --- --- PASS ZMYND8 23613 broad.mit.edu 37 20 45905323 45905323 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:45905323G>A uc002xta.1 - 11 1409 c.1155C>T c.(1153-1155)AGC>AGT p.S385S ZMYND8_uc010ghq.1_Silent_p.S62S|ZMYND8_uc010ghr.1_Silent_p.S360S|ZMYND8_uc002xst.1_Silent_p.S360S|ZMYND8_uc002xsu.1_Silent_p.S385S|ZMYND8_uc002xsv.1_Silent_p.S360S|ZMYND8_uc002xsw.1_Silent_p.S137S|ZMYND8_uc002xsx.1_Silent_p.S137S|ZMYND8_uc002xsy.1_Silent_p.S360S|ZMYND8_uc002xsz.1_Silent_p.S322S|ZMYND8_uc010zxy.1_Silent_p.S412S|ZMYND8_uc002xtb.1_Silent_p.S405S|ZMYND8_uc002xss.2_Silent_p.S385S|ZMYND8_uc010zxz.1_Silent_p.S380S|ZMYND8_uc002xtc.1_Silent_p.S405S|ZMYND8_uc002xtd.1_Silent_p.S380S|ZMYND8_uc002xte.1_Silent_p.S385S|ZMYND8_uc010zya.1_Silent_p.S385S|ZMYND8_uc002xtf.1_Silent_p.S405S|ZMYND8_uc002xtg.2_Silent_p.S379S|ZMYND8_uc010ghs.1_Silent_p.S379S NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 385 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CAGTGCCGGCGCTGGGGTTGG 0.527 6 224 --- --- --- --- PASS SULF2 55959 broad.mit.edu 37 20 46307536 46307536 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:46307536G>A uc002xto.2 - 8 1407 c.1077C>T c.(1075-1077)ATC>ATT p.I359I SULF2_uc002xtr.2_Silent_p.I359I|SULF2_uc002xtq.2_Silent_p.I359I NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 359 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TGTTGAGGACGATGTGGGGAT 0.632 10 128 --- --- --- --- PASS SPATA2 9825 broad.mit.edu 37 20 48524804 48524804 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:48524804C>A uc010gie.2 - 2 574 c.224G>T c.(223-225)CGC>CTC p.R75L SPATA2_uc002xuw.2_Missense_Mutation_p.R75L|SPATA2_uc010zyn.1_Intron NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 75 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GCTGAGCGAGCGCAAGGAGCT 0.597 30 82 --- --- --- --- PASS NFATC2 4773 broad.mit.edu 37 20 50071200 50071200 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:50071200G>A uc002xwd.2 - 6 1954 c.1734C>T c.(1732-1734)CCC>CCT p.P578P NFATC2_uc002xwc.2_Silent_p.P578P|NFATC2_uc010zyv.1_Silent_p.P359P|NFATC2_uc010zyw.1_Silent_p.P359P|NFATC2_uc010zyx.1_Silent_p.P558P|NFATC2_uc010zyy.1_Silent_p.P359P|NFATC2_uc010zyz.1_Silent_p.P359P|NFATC2_uc002xwe.2_Silent_p.P558P|hsa-mir-3194|MI0014239_5'Flank NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 578 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) TTTCAACCATGGGCAGCTCGT 0.502 67 190 --- --- --- --- PASS RBM38 55544 broad.mit.edu 37 20 55967819 55967819 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:55967819G>A uc010zzj.1 + 2 522 c.347G>A c.(346-348)CGG>CAG p.R116Q RBM38_uc010zzk.1_Missense_Mutation_p.R116Q NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN RNA-binding region containing protein 1 isoform 116 RS -> WC (in Ref. 4; CAA53063/CAA53064). 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|cytosol|nucleus|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding 0 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GCCAAGCCGCGGAGCCTCCAG 0.627 15 96 --- --- --- --- PASS ZBP1 81030 broad.mit.edu 37 20 56186895 56186895 + Silent SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:56186895G>A uc002xyo.2 - 6 1043 c.762C>T c.(760-762)ATC>ATT p.I254I ZBP1_uc010gjm.2_Silent_p.I253I|ZBP1_uc002xyp.2_Silent_p.I179I NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a 254 RIP homotypic interaction motif (RHIM) 2. cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GCTCCATGTGGATGTCCTGGG 0.647 6 17 --- --- --- --- PASS UCKL1 54963 broad.mit.edu 37 20 62571824 62571824 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr20:62571824C>T uc010gkn.2 - 13 1360 c.1317G>A c.(1315-1317)AGG>AGA p.R439R UCKL1_uc002yhj.2_Silent_p.R82R|UCKL1_uc011abm.1_Silent_p.R424R|UCKL1_uc011abn.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 439 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCTTGGGCAGCCTCAGGTAGT 0.677 9 25 --- --- --- --- PASS RNF160 26046 broad.mit.edu 37 21 30359114 30359114 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr21:30359114C>G uc002ymr.2 - 2 335 c.322G>C c.(322-324)GAT>CAT p.D108H RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 62 ligase activity|zinc ion binding 0 AAATCAGAATCTACAAGACTG 0.368 4 117 --- --- --- --- PASS KRTAP27-1 643812 broad.mit.edu 37 21 31709364 31709364 + Silent SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr21:31709364C>T uc002ynx.1 - 1 649 c.623G>A c.(622-624)TGA>TAA p.*208* NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 208 intermediate filament ovary(2) 2 TACAGATCTTCACTTACTAGG 0.378 7 56 --- --- --- --- PASS SYNJ1 8867 broad.mit.edu 37 21 34029363 34029363 + Silent SNP T C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr21:34029363T>C uc002yqh.2 - 20 2646 c.2646A>G c.(2644-2646)CCA>CCG p.P882P SYNJ1_uc011ads.1_Silent_p.P838P|SYNJ1_uc002yqf.2_Silent_p.P843P|SYNJ1_uc002yqg.2_Silent_p.P838P|SYNJ1_uc002yqi.2_Silent_p.P882P NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 843 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 GCAAAGTGCCTGGAGTCCACG 0.383 14 43 --- --- --- --- PASS GART 2618 broad.mit.edu 37 21 34892833 34892833 + Nonsense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr21:34892833G>A uc002yrx.2 - 14 1675 c.1540C>T c.(1540-1542)CAA>TAA p.Q514* GART_uc002yrz.2_Nonsense_Mutation_p.Q514*|GART_uc010gmd.2_Nonsense_Mutation_p.Q176*|GART_uc002yry.2_Nonsense_Mutation_p.Q514* NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 514 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) ACCAAATCTTGACCAATGGTA 0.368 8 38 --- --- --- --- PASS SMTN 6525 broad.mit.edu 37 22 31484020 31484020 + Missense_Mutation SNP G A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr22:31484020G>A uc003ajl.1 + 3 339 c.121G>A c.(121-123)GAG>AAG p.E41K SMTN_uc003ajk.1_Missense_Mutation_p.E41K|SMTN_uc003ajm.1_Missense_Mutation_p.E41K|SMTN_uc011ale.1_Missense_Mutation_p.E95K|SMTN_uc011alf.1_Missense_Mutation_p.E97K|SMTN_uc003ajn.1_Missense_Mutation_p.E33K|SMTN_uc011alg.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 41 Potential. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 GCAGCGGCAGGAGCTGGAGCG 0.652 8 45 --- --- --- --- PASS INPP5J 27124 broad.mit.edu 37 22 31524234 31524234 + Missense_Mutation SNP A G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr22:31524234A>G uc003aju.3 + 8 2026 c.1934A>G c.(1933-1935)AAG>AGG p.K645R INPP5J_uc003ajv.3_Missense_Mutation_p.K278R|INPP5J_uc003ajs.3_Missense_Mutation_p.K278R|INPP5J_uc011alk.1_Missense_Mutation_p.K578R|INPP5J_uc010gwg.2_Missense_Mutation_p.K210R|INPP5J_uc003ajw.2_Missense_Mutation_p.K81R|INPP5J_uc003ajt.3_Missense_Mutation_p.K277R|INPP5J_uc003ajx.2_Missense_Mutation_p.K10R|INPP5J_uc003ajy.2_Missense_Mutation_p.K10R|INPP5J_uc003ajz.2_Missense_Mutation_p.K85R NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 645 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 CCCATTCTGAAGGGCTTTCAG 0.582 3 22 --- --- --- --- PASS EIF4ENIF1 56478 broad.mit.edu 37 22 31867895 31867895 + Silent SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr22:31867895G>C uc003akz.1 - 3 269 c.105C>G c.(103-105)CTC>CTG p.L35L EIF4ENIF1_uc003ala.1_Silent_p.L35L|EIF4ENIF1_uc003alb.1_Silent_p.L35L|EIF4ENIF1_uc003alc.1_Silent_p.L35L NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 35 EIF4E-binding. nucleus protein binding|protein transporter activity ovary(1) 1 TTATATCCAAGAGTTCTTCCT 0.353 80 140 --- --- --- --- PASS TNRC6B 23112 broad.mit.edu 37 22 40662452 40662452 + Nonsense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr22:40662452C>T uc011aor.1 + 5 2429 c.2218C>T c.(2218-2220)CAA>TAA p.Q740* TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.Q740*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.Q544* NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 740 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CCAGCCCAATCAAGGATGGTC 0.522 4 58 --- --- --- --- PASS MOV10L1 54456 broad.mit.edu 37 22 50581585 50581585 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr22:50581585C>T uc003bjj.2 + 17 2376 c.2293C>T c.(2293-2295)CCG>TCG p.P765S MOV10L1_uc003bjk.3_Missense_Mutation_p.P765S|MOV10L1_uc011arp.1_Missense_Mutation_p.P745S|MOV10L1_uc011arq.1_Missense_Mutation_p.P526S NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 765 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CCGTCCCCTCCCGTATATTCT 0.483 47 86 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3242837 3242837 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:3242837C>G uc004crg.3 - 5 1046 c.889G>C c.(889-891)GAA>CAA p.E297Q NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 297 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCTTCCTGTTCTTGCTCCTCC 0.502 19 90 --- --- --- --- PASS RAI2 10742 broad.mit.edu 37 X 17818858 17818858 + Nonsense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:17818858C>A uc004cyf.2 - 3 1843 c.1273G>T c.(1273-1275)GAA>TAA p.E425* RAI2_uc004cyg.2_Nonsense_Mutation_p.E425*|RAI2_uc010nfa.2_Nonsense_Mutation_p.E425*|RAI2_uc004cyh.3_Nonsense_Mutation_p.E425*|RAI2_uc011miy.1_Nonsense_Mutation_p.E375* NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 425 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) ATGTTATTTTCAGCCTTGACT 0.552 9 163 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29973281 29973281 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:29973281C>T uc004dby.2 + 11 1943 c.1435C>T c.(1435-1437)CCA>TCA p.P479S NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 479 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TGTCATGACCCCAAATTACGT 0.388 45 59 --- --- --- --- PASS CXorf22 170063 broad.mit.edu 37 X 35974215 35974215 + Missense_Mutation SNP A C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:35974215A>C uc004ddj.2 + 8 1371 c.1312A>C c.(1312-1314)AAT>CAT p.N438H CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 438 large_intestine(1)|lung(1)|ovary(1) 3 CATCATAAAAAATCAATGCGA 0.378 31 39 --- --- --- --- PASS NYX 60506 broad.mit.edu 37 X 41307168 41307168 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:41307168T>A uc004dfh.2 + 1 456 c.26T>A c.(25-27)CTG>CAG p.L9Q NYX_uc011mku.1_Missense_Mutation_p.L4Q NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 9 response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 ATGTTGGTCCTGCTTCTGCAT 0.592 9 17 --- --- --- --- PASS GLRA4 441509 broad.mit.edu 37 X 102974156 102974156 + Missense_Mutation SNP C A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:102974156C>A uc011mse.1 - 7 1183 c.762G>T c.(760-762)CAG>CAT p.Q254H GLRA4_uc010nou.2_Missense_Mutation_p.Q254H NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 254 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 AGTAGCCCATCTGCCGTTCCA 0.557 74 103 --- --- --- --- PASS TBC1D8B 54885 broad.mit.edu 37 X 106082562 106082562 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:106082562G>C uc004emo.2 + 8 1393 c.1228G>C c.(1228-1230)GAG>CAG p.E410Q MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.E410Q NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 410 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 TGAGTCTACAGAGCCATCTGA 0.373 42 65 --- --- --- --- PASS DCX 1641 broad.mit.edu 37 X 110644424 110644424 + Missense_Mutation SNP T A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:110644424T>A uc004epd.2 - 3 914 c.742A>T c.(742-744)AGT>TGT p.S248C DCX_uc011msv.1_Missense_Mutation_p.S248C|DCX_uc004epe.2_Missense_Mutation_p.S167C|DCX_uc004epf.2_Missense_Mutation_p.S167C|DCX_uc004epg.2_Missense_Mutation_p.S167C NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 248 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 GCCTGTGCACTGTTGCTGCTA 0.522 32 52 --- --- --- --- PASS LONRF3 79836 broad.mit.edu 37 X 118123389 118123389 + Missense_Mutation SNP C T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:118123389C>T uc004eqw.2 + 4 1109 c.1078C>T c.(1078-1080)CAT>TAT p.H360Y LONRF3_uc004eqx.2_Missense_Mutation_p.H319Y|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.H104Y NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 360 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 GGAGCTCCCACATTGTTCTAG 0.498 25 59 --- --- --- --- PASS GLUD2 2747 broad.mit.edu 37 X 120181736 120181736 + Missense_Mutation SNP C G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:120181736C>G uc004eto.2 + 1 275 c.198C>G c.(196-198)TTC>TTG p.F66L NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 66 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) ACCCCAACTTCTTCAAGATGG 0.677 13 78 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122319713 122319713 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:122319713G>C uc004etq.3 + 3 432 c.139G>C c.(139-141)GAG>CAG p.E47Q GRIA3_uc004etr.3_Missense_Mutation_p.E47Q|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.E31Q|GRIA3_uc010nqs.1_Missense_Mutation_p.E47Q NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 47 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) CACAGTGCAGGAGCACAGCGC 0.488 10 68 --- --- --- --- PASS BCORL1 63035 broad.mit.edu 37 X 129155069 129155069 + Missense_Mutation SNP A T T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:129155069A>T uc004evb.1 + 5 3665 c.3551A>T c.(3550-3552)AAG>ATG p.K1184M BCORL1_uc010nrd.1_Missense_Mutation_p.K1086M NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1184 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 AAGCACCGGAAGCCGACAAAG 0.627 10 38 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153589882 153589882 + Missense_Mutation SNP G C C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chrX:153589882G>C uc004fkk.2 - 21 3250 c.3001C>G c.(3001-3003)CAA>GAA p.Q1001E FLNA_uc010nuu.1_Missense_Mutation_p.Q1001E NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1001 Filamin 8. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTTTGCCTTGACCACCAGCA 0.577 55 102 --- --- --- --- PASS AHI1 54806 broad.mit.edu 37 6 135759594 135759594 + Frame_Shift_Del DEL C - - TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr6:135759594delC uc003qgi.2 - 15 2339 c.1955delG c.(1954-1956)GGCfs p.G652fs AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Frame_Shift_Del_p.G102fs|AHI1_uc003qgh.2_Frame_Shift_Del_p.G652fs|AHI1_uc003qgj.2_Frame_Shift_Del_p.G652fs|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Frame_Shift_Del_p.G652fs NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 652 WD 2. adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) ATTGAGGTGGCCACACAATTC 0.353 4 2 --- --- --- --- CAMK2B 816 broad.mit.edu 37 7 44268438 44268439 + Frame_Shift_Ins INS - G G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr7:44268438_44268439insG uc003tkq.2 - 19 1634_1635 c.1424_1425insC c.(1423-1425)CCGfs p.P475fs CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkx.2_Intron|CAMK2B_uc010kyd.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Frame_Shift_Ins_p.P108fs NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 475 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 ACAGGCAGGGCGGGGGCCCCGC 0.673 8 4 --- --- --- --- LMX1B 4010 broad.mit.edu 37 9 129453241 129453242 + Frame_Shift_Ins INS - A A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr9:129453241_129453242insA uc004bqj.2 + 3 434_435 c.384_385insA c.(382-387)CGCAAGfs p.R128fs LMX1B_uc004bqi.2_Frame_Shift_Ins_p.R128fs|LMX1B_uc011maa.1_Frame_Shift_Ins_p.R128fs NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 128_129 LIM zinc-binding 2. dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGCAGCTACGCAAGGGCGACGA 0.629 Nail-Patella_Syndrome 28 15 --- --- --- --- POU4F1 5457 broad.mit.edu 37 13 79176484 79176486 + In_Frame_Del DEL TGG - - TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 9e2d032e-f982-44fc-b6e0-3be82f029689 b8da860b-03e5-44e5-a8c0-9ab310d3dfdd g.chr13:79176484_79176486delTGG uc001vkv.2 - 2 558_560 c.324_326delCCA c.(322-327)CACCAG>CAG p.H108del uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 108 Poly-His. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TTCGAGCGCCtggtggtggtggt 0.473 4 2 --- --- --- ---