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 DNAJC16 23341 broad.mit.edu 37 1 15888817 15888817 + Silent SNP A C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr1:15888817A>C uc001aws.2 + 9 1455 c.1335A>C c.(1333-1335)TCA>TCC p.S445S DNAJC16_uc001awr.1_Silent_p.S445S|DNAJC16_uc001awt.2_Silent_p.S133S|DNAJC16_uc001awu.2_RNA NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 445 Cytoplasmic (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AAGGGAAATCAGCGGTAAGCC 0.473 DOCK7 85440 broad.mit.edu 37 1 62993826 62993826 + Nonsense_Mutation SNP G C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr1:62993826G>C uc001daq.2 - 31 3966 c.3932C>G c.(3931-3933)TCA>TGA p.S1311* DOCK7_uc001dan.2_Nonsense_Mutation_p.S1172*|DOCK7_uc001dao.2_Nonsense_Mutation_p.S1172*|DOCK7_uc001dap.2_Nonsense_Mutation_p.S1280*|DOCK7_uc001dam.2_Nonsense_Mutation_p.S491*|DOCK7_uc010oov.1_Intron NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1311 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 TTTTACCGTTGACGTGAGGAG 0.423 OR10J1 26476 broad.mit.edu 37 1 159410403 159410403 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr1:159410403G>A uc010piv.1 + 1 855 c.855G>A c.(853-855)TCG>TCA p.S285S uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 285 Helical; Name=7; (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) AGCTGATCTCGGTGACCTACA 0.517 ATP1A4 480 broad.mit.edu 37 1 160144388 160144388 + Missense_Mutation SNP C A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr1:160144388C>A uc001fve.3 + 15 2641 c.2162C>A c.(2161-2163)ACA>AAA p.T721K ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.T224K|ATP1A4_uc001fvh.2_5'Flank NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 721 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGGCCGTGACAGGTGACGGG 0.542 SLC9A11 284525 broad.mit.edu 37 1 173505000 173505000 + Missense_Mutation SNP A C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr1:173505000A>C uc001giz.2 - 15 2167 c.1744T>G c.(1744-1746)TGT>GGT p.C582G SLC9A11_uc009wwe.2_Missense_Mutation_p.C140G|SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 582 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TTTTCTATACAATATTCCAAG 0.264 HMCN1 83872 broad.mit.edu 37 1 186017944 186017945 + Frame_Shift_Ins INS - A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr1:186017944_186017945insA uc001grq.1 + 42 6779_6780 c.6550_6551insA c.(6550-6552)GAAfs p.E2184fs NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2184 Ig-like C2-type 19. E -> EK (in Ref. 1). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGGAAAAACTGAAAAAAACTAC 0.361 AIDA 64853 broad.mit.edu 37 1 222860999 222860999 + Missense_Mutation SNP G C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr1:222860999G>C uc001hnn.2 - 5 496 c.291C>G c.(289-291)ATC>ATG p.I97M AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.I73M NM_022831 NP_073742 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 97 dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity 0 TATTCTTTAGGACTAGAATAA 0.194 KIAA1217 56243 broad.mit.edu 37 10 24762771 24762771 + Silent SNP C T T rs143282203 byFrequency TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr10:24762771C>T uc001iru.3 + 6 1864 c.1461C>T c.(1459-1461)CAC>CAT p.H487H KIAA1217_uc001irs.2_Silent_p.H407H|KIAA1217_uc001irt.3_Silent_p.H487H|KIAA1217_uc010qcy.1_Silent_p.H487H|KIAA1217_uc010qcz.1_Silent_p.H487H|KIAA1217_uc001irv.1_Silent_p.H337H|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.H205H|KIAA1217_uc001irz.2_Silent_p.H205H|KIAA1217_uc001irx.2_Silent_p.H205H|KIAA1217_uc001iry.2_Silent_p.H205H NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 487 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 TAGACATGCACGCTCACTATA 0.557 KIAA1462 57608 broad.mit.edu 37 10 30315407 30315407 + Missense_Mutation SNP G C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr10:30315407G>C uc001iux.2 - 2 3729 c.3670C>G c.(3670-3672)CCA>GCA p.P1224A KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.P1086A|KIAA1462_uc009xle.1_Missense_Mutation_p.P1224A NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1224 ovary(4) 4 GCCACACTTGGGGTTCTTTCT 0.488 DOCK1 1793 broad.mit.edu 37 10 129231688 129231688 + Missense_Mutation SNP G T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr10:129231688G>T uc001ljt.2 + 48 5057 c.4993G>T c.(4993-4995)GAC>TAC p.D1665Y DOCK1_uc010qun.1_Missense_Mutation_p.D1686Y|DOCK1_uc009yaq.2_Missense_Mutation_p.D660Y NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1665 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.D1665Y(1) central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ACCAGGCTCCGACGGGTGAGT 0.597 NELL1 4745 broad.mit.edu 37 11 20949959 20949959 + Missense_Mutation SNP C T T rs150066751 TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr11:20949959C>T uc001mqe.2 + 9 1084 c.931C>T c.(931-933)CCT>TCT p.P311S NELL1_uc001mqf.2_Missense_Mutation_p.P311S|NELL1_uc009yid.2_Missense_Mutation_p.P339S|NELL1_uc010rdo.1_Missense_Mutation_p.P254S|NELL1_uc010rdp.1_Missense_Mutation_p.P71S NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 311 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GTCCTGTCCCCCTCTCAATTG 0.537 PACS1 55690 broad.mit.edu 37 11 65988123 65988123 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr11:65988123G>A uc001oha.1 + 9 1194 c.1060G>A c.(1060-1062)GTG>ATG p.V354M NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 354 Potential. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 GCTGGAGCATGTGTCCCGCGA 0.517 PRMT8 56341 broad.mit.edu 37 12 3649947 3649947 + Missense_Mutation SNP G T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr12:3649947G>T uc001qmf.2 + 2 618 c.251G>T c.(250-252)GGG>GTG p.G84V PRMT8_uc009zed.2_Missense_Mutation_p.G75V|PRMT8_uc009zee.1_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 84 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) GCCCACTTTGGGATCCACGAG 0.532 DDX12 440081 broad.mit.edu 37 12 9590605 9590605 + Splice_Site SNP A C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr12:9590605A>C uc010sgs.1 - 3 588 c.393_splice c.e3+1 p.K131_splice DDX12_uc009zgq.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 CCCAGGTCTCACCTTCAGTCG 0.602 TMEM132D 121256 broad.mit.edu 37 12 129694197 129694197 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr12:129694197G>A uc009zyl.1 - 5 1639 c.1311C>T c.(1309-1311)ATC>ATT p.I437I NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 437 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTGTGTTCAGGATTTCTGCCT 0.617 MTUS2 23281 broad.mit.edu 37 13 29599308 29599308 + Missense_Mutation SNP T C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr13:29599308T>C uc001usl.3 + 1 561 c.503T>C c.(502-504)GTT>GCT p.V168A NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 158 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CCCCGGCATGTTCCCAAGGAT 0.507 SLITRK6 84189 broad.mit.edu 37 13 86370526 86370526 + Missense_Mutation SNP T G G TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr13:86370526T>G uc001vll.1 - 2 577 c.118A>C c.(118-120)AAA>CAA p.K40Q SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 40 LRRNT 1.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GTGCCATCTTTTTCCTCACAA 0.388 FOXA1 3169 broad.mit.edu 37 14 38060897 38060897 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr14:38060897G>A uc001wuf.2 - 2 1404 c.1092C>T c.(1090-1092)CCC>CCT p.P364P FOXA1_uc010tpz.1_Silent_p.P331P NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 364 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCAGCGCCCCGGGCCCGGAGC 0.697 SIPA1L1 26037 broad.mit.edu 37 14 72055586 72055586 + Missense_Mutation SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr14:72055586C>T uc001xms.2 + 2 1345 c.997C>T c.(997-999)CAC>TAC p.H333Y SIPA1L1_uc001xmt.2_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmu.2_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmv.2_Missense_Mutation_p.H333Y NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 333 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GTGCTTTGCCCACTATGATGT 0.448 FAM181A 90050 broad.mit.edu 37 14 94394688 94394688 + Silent SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr14:94394688C>T uc001ybz.1 + 3 550 c.243C>T c.(241-243)AGC>AGT p.S81S C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.S19S|FAM181A_uc001yca.1_Silent_p.S19S NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 81 0 TGGCGTCCAGCGACATCAAGG 0.587 SERPINA11 256394 broad.mit.edu 37 14 94914503 94914503 + Silent SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr14:94914503C>T uc001ydd.1 - 2 669 c.609G>A c.(607-609)ACG>ACA p.T203T NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 203 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) GAACCATGAACGTGTCCTGGC 0.473 RYR3 6263 broad.mit.edu 37 15 34077951 34077951 + Missense_Mutation SNP G T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr15:34077951G>T uc001zhi.2 + 66 9427 c.9357G>T c.(9355-9357)GAG>GAT p.E3119D RYR3_uc010bar.2_Missense_Mutation_p.E3119D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3119 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) ACCTGGCCGAGTCAGGGGCCC 0.567 TYRO3 7301 broad.mit.edu 37 15 41860451 41860451 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr15:41860451G>A uc001zof.1 + 8 1222 c.998G>A c.(997-999)CGC>CAC p.R333H NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 333 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CATGCCATCCGCACAGATTCA 0.562 CCDC33 80125 broad.mit.edu 37 15 74554903 74554903 + Missense_Mutation SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr15:74554903C>T uc002axo.2 + 3 702 c.308C>T c.(307-309)GCA>GTA p.A103V NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 306 C2. protein binding ovary(3)|skin(2) 5 GCTGAGGATGCAGGGCAAGAA 0.587 BCL2A1 597 broad.mit.edu 37 15 80263133 80263133 + Missense_Mutation SNP G A A rs143571009 TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr15:80263133G>A uc002bfc.3 - 1 511 c.329C>T c.(328-330)CCG>CTG p.P110L BCL2A1_uc002bfd.3_Missense_Mutation_p.P110L NM_004049 NP_004040 Q16548 B2LA1_HUMAN BCL2-related protein A1 isoform 1 110 anti-apoptosis|apoptosis cytoplasm protein binding pancreas(1) 1 ATCCACATCCGGGGCAATTTG 0.403 GOLGA6L10 647042 broad.mit.edu 37 15 83014106 83014106 + Silent SNP T C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr15:83014106T>C uc010uny.1 - 6 539 c.441A>G c.(439-441)GTA>GTG p.V147V GOLGA6L10_uc010unt.1_RNA|uc002bhl.2_Intron|uc002bhm.2_Intron|GOLGA6L10_uc002bia.1_5'Flank NM_198181 NP_937824 A6NI86 GG6LA_HUMAN golgi autoantigen, golgin subfamily a, 6D-like 159 Potential. 0 GTAGCTGCTCTACCTTAGATG 0.498 ALPK3 57538 broad.mit.edu 37 15 85400203 85400203 + Missense_Mutation SNP C A A rs142677464 TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr15:85400203C>A uc002ble.2 + 6 3007 c.2840C>A c.(2839-2841)GCG>GAG p.A947E NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 947 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACCTACAGCGGGTCCTAGA 0.562 PEX11A 8800 broad.mit.edu 37 15 90226684 90226684 + Missense_Mutation SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr15:90226684C>T uc002boi.2 - 3 763 c.668G>A c.(667-669)GGA>GAA p.G223E PEX11A_uc010upy.1_RNA NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 223 Helical; (Potential). cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) ACCTCCAAGTCCAATGATGCC 0.483 ALG1 56052 broad.mit.edu 37 16 5128838 5128838 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr16:5128838G>A uc002cym.2 + 7 862 c.821G>A c.(820-822)CGT>CAT p.R274H ALG1_uc002cyj.2_Missense_Mutation_p.R163H|ALG1_uc002cyn.2_Missense_Mutation_p.R274H|ALG1_uc010bue.2_Missense_Mutation_p.R163H|ALG1_uc010uxy.1_Missense_Mutation_p.R163H NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 274 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) ACGCGTCTCCGTGAGCGGCCA 0.652 TAX1BP3 30851 broad.mit.edu 37 17 3567085 3567085 + Missense_Mutation SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr17:3567085C>T uc002fwc.2 - 4 485 c.332G>A c.(331-333)CGG>CAG p.R111Q P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_3'UTR NM_014604 NP_055419 O14907 TX1B3_HUMAN Tax1 binding protein 3 111 PDZ. activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway cytoplasm|nucleus protein C-terminus binding 0 COAD - Colon adenocarcinoma(5;0.0761) CAGCGACTGCCGCGTCACCAG 0.647 ENO3 2027 broad.mit.edu 37 17 4860277 4860277 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr17:4860277G>A uc002gab.3 + 12 1334 c.1240G>A c.(1240-1242)GAG>AAG p.E414K ENO3_uc002gac.3_Missense_Mutation_p.E414K|ENO3_uc010vss.1_Missense_Mutation_p.E371K|ENO3_uc010vst.1_Missense_Mutation_p.E241K NM_053013 NP_443739 P13929 ENOB_HUMAN enolase 3 414 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity ovary(1) 1 TTCTAGGATCGAGGAGGCTCT 0.577 OREG0024110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ALOX12B 242 broad.mit.edu 37 17 7984477 7984477 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr17:7984477G>A uc002gjy.1 - 3 642 c.381C>T c.(379-381)CCC>CCT p.P127P uc010cnq.1_RNA NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 127 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 CCAGGAGGACGGGGAGCGAGT 0.617 Multiple Myeloma(8;0.094) USH1G 124590 broad.mit.edu 37 17 72916074 72916074 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr17:72916074G>A uc002jme.1 - 2 1040 c.857C>T c.(856-858)GCC>GTC p.A286V USH1G_uc010wro.1_Missense_Mutation_p.A183V NM_173477 NP_775748 Q495M9 USH1G_HUMAN Usher syndrome 1G protein 286 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton skin(2) 2 all_lung(278;0.172)|Lung NSC(278;0.207) CGCCAGCGTGGCACGGGAGAC 0.687 FOXJ1 2302 broad.mit.edu 37 17 74136123 74136123 + Silent SNP C A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr17:74136123C>A uc002jqw.2 - 1 444 c.354G>T c.(352-354)CCG>CCT p.P118P FOXJ1_uc002jqx.2_Silent_p.P118P|uc002jqy.1_5'Flank NM_001454 NP_001445 Q92949 FOXJ1_HUMAN forkhead box J1 118 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 pancreas(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) GCTTCACGTGCGGATTGGTGG 0.667 FAM59A 64762 broad.mit.edu 37 18 29890192 29890192 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr18:29890192G>A uc002kxl.2 - 3 413 c.357C>T c.(355-357)CGC>CGT p.R119R FAM59A_uc002kxk.1_Silent_p.R119R NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 119 CABIT. ovary(1)|skin(1) 2 TGACGTACACGCGTTCAGGAA 0.413 SERPINB5 5268 broad.mit.edu 37 18 61156656 61156656 + Missense_Mutation SNP C T T rs145559318 TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr18:61156656C>T uc002liz.3 + 4 525 c.383C>T c.(382-384)ACG>ATG p.T128M SERPINB5_uc002liy.2_Missense_Mutation_p.T128M NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 128 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 TTGGAAGAAACGAAAGGTCAG 0.388 MUC16 94025 broad.mit.edu 37 19 9067989 9067989 + Missense_Mutation SNP A G G TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:9067989A>G uc002mkp.2 - 3 19661 c.19457T>C c.(19456-19458)TTG>TCG p.L6486S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6488 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAGAGTGGACAAATCTAATTG 0.488 SLC44A2 57153 broad.mit.edu 37 19 10742381 10742381 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:10742381G>A uc002mpf.2 + 8 721 c.582G>A c.(580-582)GGG>GGA p.G194G SLC44A2_uc002mpe.3_Silent_p.G192G NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 194 Extracellular (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) ATGAGGATGGGCATGGCTCCC 0.602 PSG7 5676 broad.mit.edu 37 19 43429925 43429925 + Missense_Mutation SNP C A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:43429925C>A uc002ovl.3 - 6 1345 c.1243G>T c.(1243-1245)GAC>TAC p.D415Y PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.A328S|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Missense_Mutation_p.A141S|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.D328Y|PSG7_uc010xwl.1_Missense_Mutation_p.D293Y NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 415 female pregnancy extracellular region 0 Prostate(69;0.00682) ATCCACTTACCAGAGACTCTG 0.483 ZNF45 7596 broad.mit.edu 37 19 44417709 44417709 + Frame_Shift_Del DEL G - - TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:44417709delG uc002oxu.1 - 4 1978 c.1879delC c.(1879-1881)CTTfs p.L627fs ZNF45_uc002oxw.1_Frame_Shift_Del_p.L627fs|ZNF45_uc002oxv.1_Frame_Shift_Del_p.L627fs NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 627 C2H2-type 17. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TGGGCTTGAAGGTATGAGCTC 0.488 CEACAM20 125931 broad.mit.edu 37 19 45029207 45029207 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:45029207G>A uc010ejn.1 - 2 139 c.123C>T c.(121-123)GCC>GCT p.A41A CEACAM20_uc010ejo.1_Silent_p.A41A|CEACAM20_uc010ejp.1_Silent_p.A41A|CEACAM20_uc010ejq.1_Silent_p.A41A NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 41 Extracellular (Potential). integral to membrane large_intestine(2) 2 Prostate(69;0.0352) CACTTTGGGTGGCATCAAGTG 0.562 ZNF83 55769 broad.mit.edu 37 19 53116375 53116375 + Silent SNP T C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:53116375T>C uc002pzu.3 - 2 2687 c.1443A>G c.(1441-1443)GGA>GGG p.G481G ZNF83_uc002pzv.3_Silent_p.G481G|ZNF83_uc010eps.2_Silent_p.G453G|ZNF83_uc010ept.2_Silent_p.G481G|ZNF83_uc010epu.2_Silent_p.G481G|ZNF83_uc010epv.2_Silent_p.G481G|ZNF83_uc010epw.2_Silent_p.G481G|ZNF83_uc010epx.2_Silent_p.G453G|ZNF83_uc010epy.2_Silent_p.G481G|ZNF83_uc010epz.2_Silent_p.G453G NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 481 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) AATGTTTCTCTCCAGTGTGGA 0.388 TMC4 147798 broad.mit.edu 37 19 54669199 54669199 + Missense_Mutation SNP T G G TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:54669199T>G uc010erf.2 - 6 1049 c.917A>C c.(916-918)GAC>GCC p.D306A TMC4_uc002qdn.2_5'Flank|TMC4_uc002qdo.2_Missense_Mutation_p.D300A NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 306 Extracellular (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CACGTGGACGTCCCCGCAGAG 0.632 NLRP9 338321 broad.mit.edu 37 19 56244390 56244390 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:56244390G>A uc002qly.2 - 2 835 c.807C>T c.(805-807)TCC>TCT p.S269S NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 269 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TAAGGAGAGAGGATTCTGGAA 0.408 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 FEZ2 9637 broad.mit.edu 37 2 36810520 36810520 + Missense_Mutation SNP A C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr2:36810520A>C uc002rph.2 - 3 515 c.468T>G c.(466-468)GAT>GAG p.D156E FEZ2_uc002rpe.2_5'Flank|FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rpg.2_Missense_Mutation_p.D156E|FEZ2_uc002rpi.2_Missense_Mutation_p.D11E|FEZ2_uc002rpj.2_Missense_Mutation_p.D156E NM_005102 NP_005093 Q9UHY8 FEZ2_HUMAN zygin 2 isoform 1 156 axon guidance|signal transduction protein binding ovary(1) 1 all_hematologic(82;0.21) AGAGGGGTTCATCATTAACAC 0.438 CD8A 925 broad.mit.edu 37 2 87013056 87013056 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr2:87013056G>A uc002srt.2 - 6 1584 c.695C>T c.(694-696)GCG>GTG p.A232V RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.A232V|CD8A_uc010ytn.1_Missense_Mutation_p.A273V|CD8A_uc002sru.2_Missense_Mutation_p.A195V NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 232 Cytoplasmic (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 GACGTATCTCGCCGAAAGGCT 0.507 TRIM43 129868 broad.mit.edu 37 2 96262159 96262159 + Missense_Mutation SNP A T T rs149986492 TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr2:96262159A>T uc002suv.2 + 4 853 c.717A>T c.(715-717)AAA>AAT p.K239N NM_138800 NP_620155 Q96BQ3 TRI43_HUMAN tripartite motif-containing 43 239 intracellular zinc ion binding ovary(1) 1 TGTGTCATAAACCAGATGTGG 0.413 GPR148 344561 broad.mit.edu 37 2 131486773 131486773 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr2:131486773G>A uc002trv.1 + 1 51 c.49G>A c.(49-51)GCC>ACC p.A17T NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 17 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) AGCTTGGCCGGCCCTGATCCA 0.612 PLCB1 23236 broad.mit.edu 37 20 8352082 8352082 + Silent SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr20:8352082C>T uc002wnb.2 + 3 234 c.231C>T c.(229-231)CAC>CAT p.H77H PLCB1_uc010zrb.1_Translation_Start_Site|PLCB1_uc010gbv.1_Silent_p.H77H|PLCB1_uc002wmz.1_Silent_p.H77H|PLCB1_uc002wna.2_Silent_p.H77H NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 77 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 GTGGGAGACACGCCAAAGCTC 0.468 SSTR4 6754 broad.mit.edu 37 20 23016952 23016952 + Missense_Mutation SNP G T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr20:23016952G>T uc002wsr.2 + 1 896 c.832G>T c.(832-834)GTG>TTG p.V278L NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 278 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TTTCTACGTGGTGCAGCTGCT 0.577 PREX1 57580 broad.mit.edu 37 20 47244458 47244458 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr20:47244458G>A uc002xtw.1 - 38 4833 c.4810C>T c.(4810-4812)CGG>TGG p.R1604W PREX1_uc002xtv.1_Missense_Mutation_p.R901W NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1604 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCGTGGCTCCGTGCCAAGATG 0.692 KCNG1 3755 broad.mit.edu 37 20 49621144 49621144 + Missense_Mutation SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr20:49621144C>T uc002xwa.3 - 3 1269 c.974G>A c.(973-975)CGT>CAT p.R325H NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 325 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GGGCTTGCGACGGCCTGCGGC 0.701 SCARF2 91179 broad.mit.edu 37 22 20784714 20784714 + Splice_Site SNP A C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr22:20784714A>C uc002zsj.1 - 6 1307 c.1202_splice c.e6+1 p.H401_splice SCARF2_uc002zsk.1_Splice_Site_p.H401_splice NM_153334 NP_699165 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 isoform 1 cell adhesion integral to membrane protein binding|receptor activity breast(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CGGGGCACTCACTGGGGCCCG 0.711 CACNA1I 8911 broad.mit.edu 37 22 40078576 40078576 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr22:40078576G>A uc003ayc.2 + 35 5740 c.5740G>A c.(5740-5742)GTC>ATC p.V1914I CACNA1I_uc003ayd.2_Missense_Mutation_p.V1879I|CACNA1I_uc003aye.2_Missense_Mutation_p.V1829I|CACNA1I_uc003ayf.2_Missense_Mutation_p.V1794I NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1914 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTCTACGGCCGTCTCGCCGGA 0.592 DLEC1 9940 broad.mit.edu 37 3 38104257 38104257 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr3:38104257G>A uc003cho.1 + 5 1080 c.1059G>A c.(1057-1059)CCG>CCA p.P353P DLEC1_uc003chp.1_Silent_p.P353P|DLEC1_uc010hgv.1_Silent_p.P353P|DLEC1_uc010hgw.1_Silent_p.P52P|DLEC1_uc003chq.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 353 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGCCAGCACCGATAGGAGAAT 0.463 ULK4 54986 broad.mit.edu 37 3 41953077 41953077 + Missense_Mutation SNP T G G TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr3:41953077T>G uc003ckv.3 - 10 1172 c.971A>C c.(970-972)AAA>ACA p.K324T ULK4_uc003ckw.2_Missense_Mutation_p.K324T|ULK4_uc003ckx.1_Missense_Mutation_p.K324T NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 324 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTTGTGCCCTTTTGCTTGTCT 0.413 LRBA 987 broad.mit.edu 37 4 151788860 151788860 + Missense_Mutation SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr4:151788860C>T uc010ipj.2 - 22 3203 c.2729G>A c.(2728-2730)CGT>CAT p.R910H LRBA_uc003ilu.3_Missense_Mutation_p.R910H NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 910 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TACCCATACACGCCAGCCACC 0.343 DIMT1L 27292 broad.mit.edu 37 5 61686705 61686705 + Frame_Shift_Del DEL G - - TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr5:61686705delG uc003jta.2 - 11 1026 c.897delC c.(895-897)ATCfs p.I299fs NM_014473 NP_055288 Q9UNQ2 DIMT1_HUMAN dimethyladenosine transferase 299 Missing (in Ref. 2; AAH02841). nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity central_nervous_system(1) 1 Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.122) GTAATTACCTGATGAAGTCAT 0.383 PCDHGB3 56102 broad.mit.edu 37 5 140752102 140752102 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr5:140752102G>A uc003ljw.1 + 1 2141 c.2141G>A c.(2140-2142)CGC>CAC p.R714H 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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R714H|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 714 Cytoplasmic (Potential). 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) ATCTCCCTGCGCCTGCGATGC 0.582 FLT4 2324 broad.mit.edu 37 5 180048197 180048197 + Silent SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr5:180048197G>A uc003mma.3 - 14 2155 c.2076C>T c.(2074-2076)AGC>AGT p.S692S FLT4_uc003mlz.3_Silent_p.S692S|FLT4_uc003mmb.1_Silent_p.S225S|FLT4_uc011dgy.1_Silent_p.S692S NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 692 Ig-like C2-type 7.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCAGCGAGTCGCTCACGTTCA 0.632 Congenital_Hereditary_Lymphedema GRM4 2914 broad.mit.edu 37 6 34004373 34004373 + Missense_Mutation SNP C T T rs142049660 by1000genomes TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr6:34004373C>T uc003oir.3 - 8 1684 c.1514G>A c.(1513-1515)CGG>CAG p.R505Q GRM4_uc011dsn.1_Missense_Mutation_p.R458Q|GRM4_uc010jvh.2_Missense_Mutation_p.R505Q|GRM4_uc010jvi.2_Missense_Mutation_p.R197Q|GRM4_uc003oio.2_Missense_Mutation_p.R197Q|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R365Q|GRM4_uc003oiq.2_Missense_Mutation_p.R372Q|GRM4_uc011dsm.1_Missense_Mutation_p.R336Q NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 505 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CCAGTGCATCCGCTCTATCTG 0.647 DNAH8 1769 broad.mit.edu 37 6 38957817 38957817 + Silent SNP G A A rs143472136 byFrequency TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr6:38957817G>A uc003ooe.1 + 86 13032 c.12432G>A c.(12430-12432)CCG>CCA p.P4144P 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 TGTTTGAACCGTCATTCTGCT 0.368 OPN5 221391 broad.mit.edu 37 6 47763200 47763200 + Silent SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr6:47763200C>T uc003ozc.2 + 4 662 c.657C>T c.(655-657)TAC>TAT p.Y219Y OPN5_uc003ozd.2_Silent_p.Y54Y NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 219 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 TGTTCTCCTACGTAAAGATCA 0.512 PKHD1 5314 broad.mit.edu 37 6 51889738 51889738 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr6:51889738G>A uc003pah.1 - 32 5146 c.4870C>T c.(4870-4872)CGG>TGG p.R1624W PKHD1_uc003pai.2_Missense_Mutation_p.R1624W NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1624 Extracellular (Potential).|IPT/TIG 11. R -> W (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.R1624W(1) lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ACAATGCACCGGATGAGCTCA 0.507 OOEP 441161 broad.mit.edu 37 6 74079390 74079390 + Silent SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr6:74079390C>T uc003pgu.3 - 1 126 c.126G>A c.(124-126)CCG>CCA p.P42P OOEP_uc003pgv.3_Intron NM_001080507 NP_001073976 A6NGQ2 OOEP_HUMAN oocyte expressed protein homolog 42 cytoplasm 0 GTTCCTGCACCGGAAACCACC 0.622 FILIP1 27145 broad.mit.edu 37 6 76024625 76024625 + Nonsense_Mutation SNP G T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr6:76024625G>T uc003pia.2 - 5 1296 c.923C>A c.(922-924)TCG>TAG p.S308* FILIP1_uc003phy.1_Nonsense_Mutation_p.S308*|FILIP1_uc003phz.2_Nonsense_Mutation_p.S209*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.S311*|FILIP1_uc003pib.1_Nonsense_Mutation_p.S60* NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 308 Potential. skin(3)|ovary(1) 4 AGAAAACCTCGAAGCCTTGTG 0.423 SEC63 11231 broad.mit.edu 37 6 108225906 108225906 + Missense_Mutation SNP T G G TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr6:108225906T>G uc003psc.3 - 11 1250 c.981A>C c.(979-981)AAA>AAC p.K327N SEC63_uc003psb.3_Missense_Mutation_p.K187N NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 327 SEC63 1.|Cytoplasmic (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) CAGGACACTTTTTTAGCATGA 0.348 GPR126 57211 broad.mit.edu 37 6 142736937 142736937 + Silent SNP T C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr6:142736937T>C uc010khc.2 + 20 3085 c.2674T>C c.(2674-2676)TTG>CTG p.L892L GPR126_uc010khd.2_Silent_p.L864L|GPR126_uc010khe.2_Silent_p.L892L|GPR126_uc010khf.2_Silent_p.L864L NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 892 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TTTTAGGAAATTGCGAAGGGA 0.403 RUNDC3B 154661 broad.mit.edu 37 7 87258211 87258211 + Silent SNP G C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr7:87258211G>C uc003ujb.2 + 1 483 c.72G>C c.(70-72)CTG>CTC p.L24L ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Silent_p.L24L|RUNDC3B_uc011khe.1_Silent_p.L24L|RUNDC3B_uc003ujc.2_Silent_p.L24L NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 24 skin(1) 1 Esophageal squamous(14;0.00164) AGAAAAGCCTGAGCGCCCGCA 0.716 RELN 5649 broad.mit.edu 37 7 103338350 103338350 + Missense_Mutation SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr7:103338350C>T uc003vca.2 - 10 1253 c.1093G>A c.(1093-1095)GAC>AAC p.D365N RELN_uc010liz.2_Missense_Mutation_p.D365N NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 365 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCACTGGGTCGAGACTATCT 0.423 CHCHD3 54927 broad.mit.edu 37 7 132754903 132754903 + Silent SNP T C C TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr7:132754903T>C uc003vre.2 - 2 304 c.168A>G c.(166-168)TCA>TCG p.S56S CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Silent_p.S56S|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Silent_p.S56S NM_017812 NP_060282 Q9NX63 CHCH3_HUMAN coiled-coil-helix-coiled-coil-helix domain 56 inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold 0 CAGCAATACCTGAGGCACCAT 0.378 KEL 3792 broad.mit.edu 37 7 142655026 142655026 + Missense_Mutation SNP G T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr7:142655026G>T uc003wcb.2 - 6 770 c.560C>A c.(559-561)TCC>TAC p.S187Y NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 187 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) AAAGTTTAAGGAAGTCCATTT 0.517 CLCN1 1180 broad.mit.edu 37 7 143036401 143036401 + Missense_Mutation SNP C G G TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr7:143036401C>G uc003wcr.1 + 13 1544 c.1457C>G c.(1456-1458)CCT>CGT p.P486R CLCN1_uc011ktc.1_Missense_Mutation_p.P98R NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 486 Helical; (By similarity).|Selectivity filter part_3 (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) GGCTTCATGCCTGTGTTTGTG 0.517 ARHGEF10 9639 broad.mit.edu 37 8 1806268 1806268 + Silent SNP C A A rs111294316 byFrequency TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr8:1806268C>A uc003wpr.2 + 3 358 c.180C>A c.(178-180)GCC>GCA p.A60A ARHGEF10_uc003wpq.1_Silent_p.A84A|ARHGEF10_uc003wps.2_Silent_p.A60A|ARHGEF10_uc003wpt.2_5'Flank|ARHGEF10_uc010lrd.1_5'Flank|ARHGEF10_uc003wpu.2_5'Flank NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 84 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCAGTGAAGCCCCTGCACCCA 0.323 TRIM55 84675 broad.mit.edu 37 8 67062093 67062093 + Nonsense_Mutation SNP G T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr8:67062093G>T uc003xvv.2 + 5 1043 c.817G>T c.(817-819)GAA>TAA p.E273* TRIM55_uc003xvu.2_Nonsense_Mutation_p.E273*|TRIM55_uc003xvw.2_Nonsense_Mutation_p.E273*|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 273 COS. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GGATGAGCCAGAAATGGCAGT 0.378 DENND4C 55667 broad.mit.edu 37 9 19346294 19346294 + Missense_Mutation SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr9:19346294C>T uc003znq.2 + 18 2705 c.2672C>T c.(2671-2673)CCG>CTG p.P891L DENND4C_uc011lnc.1_Missense_Mutation_p.P221L|DENND4C_uc011lnd.1_Missense_Mutation_p.P179L|DENND4C_uc003znr.2_Missense_Mutation_p.P179L|DENND4C_uc003zns.2_Missense_Mutation_p.P73L|DENND4C_uc003znt.2_Missense_Mutation_p.P73L NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 891 integral to membrane ovary(1)|skin(1) 2 AGATCATCTCCGGTGCCAGAG 0.443 PGM5 5239 broad.mit.edu 37 9 71080089 71080089 + Missense_Mutation SNP G A A rs141668530 TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr9:71080089G>A uc004agr.2 + 7 1353 c.1124G>A c.(1123-1125)CGT>CAT p.R375H NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 375 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 GACTCAGGACGTTGCAATCTG 0.473 APBA1 320 broad.mit.edu 37 9 72130983 72130983 + Missense_Mutation SNP G A A TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr9:72130983G>A uc004ahh.2 - 2 1420 c.1144C>T c.(1144-1146)CGC>TGC p.R382C NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 382 LIN-2/CASK binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 ATGTCCTGGCGCATGACCCAG 0.622 GOLGA2 2801 broad.mit.edu 37 9 131020819 131020821 + In_Frame_Del DEL TCC - - TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr9:131020819_131020821delTCC uc011maw.1 - 21 2134_2136 c.2121_2123delGGA c.(2119-2124)GAGGAT>GAT p.E707del GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_In_Frame_Del_p.E180del NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 707 Potential.|Poly-Glu. Golgi cisterna membrane protein binding ovary(1) 1 ctcctcctcatcctcctcctcct 0.527 SOHLH1 402381 broad.mit.edu 37 9 138586907 138586907 + Silent SNP C T T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 79062efd-2b09-4798-a504-0a18ca30ef2d eb4aaeef-72d7-4da6-96d9-7504521a99f1 g.chr9:138586907C>T uc004cgl.2 - 6 925 c.864G>A c.(862-864)GCG>GCA p.A288A SOHLH1_uc010nbe.2_Silent_p.A288A NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 288 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CGGCCTCCTGCGCCAGCATGG 0.697