Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PLEKHG5 57449 broad.mit.edu 37 1 6534542 6534542 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:6534542G>A uc001ano.1 - 7 677 c.576C>T c.(574-576)TAC>TAT p.Y192Y PLEKHG5_uc001ann.1_Silent_p.Y173Y|PLEKHG5_uc001anq.1_Silent_p.Y213Y|PLEKHG5_uc001anp.1_Silent_p.Y213Y|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Silent_p.Y205Y|PLEKHG5_uc001ank.1_Silent_p.Y136Y|PLEKHG5_uc009vmb.1_Silent_p.Y136Y|PLEKHG5_uc001anl.1_Silent_p.Y136Y|PLEKHG5_uc001anm.1_Silent_p.Y136Y NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 192 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCCCGAACCTGTAGGCCTCGA 0.607 NA 6 29 0 0 0 0 NOL9 79707 broad.mit.edu 37 1 6609717 6609717 + Missense_Mutation SNP A A G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:6609717A>G uc001ans.2 - 3 677 c.658T>C c.(658-660)TCC>CCC p.S220P NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 220 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) AACACAATGGAACACTGAGGA 0.413 NA 7 71 0 0 0 0 CELA2A 63036 broad.mit.edu 37 1 15789236 15789236 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:15789236G>C uc001awk.2 + 4 262 c.236G>C c.(235-237)AGG>ACG p.R79T NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 79 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 AGCTCCTCCAGGACCTACCGC 0.617 NA 29 59 0 0 0 0 HSPG2 3339 broad.mit.edu 37 1 22172685 22172685 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:22172685G>A uc001bfj.2 - 64 8420 c.8380C>T c.(8380-8382)CGG>TGG p.R2794W HSPG2_uc009vqd.2_Missense_Mutation_p.R2795W NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2794 Ig-like C2-type 13. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCCATCACCCGGCACACGTAT 0.657 NA 15 29 0 0 0 0 DMRTB1 63948 broad.mit.edu 37 1 53930414 53930414 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:53930414G>A uc001cvq.1 + 3 910 c.855G>A c.(853-855)CCG>CCA p.P285P NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 285 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AGTTCCTCCCGCCAGGCTACC 0.522 NA 13 73 0 0 0 0 C1orf168 199920 broad.mit.edu 37 1 57257877 57257877 + Silent SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:57257877G>T uc001cym.3 - 2 1015 c.609C>A c.(607-609)CCC>CCA p.P203P C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.P203P NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 203 ovary(3)|skin(2) 5 GTAATATTTTGGGGGCCACCA 0.488 NA 9 123 2.18e-05 2.46e-05 1 0 PTGFR 5737 broad.mit.edu 37 1 79002110 79002110 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:79002110G>A uc001din.2 + 3 1084 c.818G>A c.(817-819)GGA>GAA p.G273E PTGFR_uc001dim.2_Missense_Mutation_p.E297K NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 273 Extracellular (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GCCAACATTGGAATAAATGGA 0.343 NA 4 56 0 0 0 0 KCNA3 3738 broad.mit.edu 37 1 111216780 111216780 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:111216780G>A uc001dzv.1 - 1 876 c.652C>T c.(652-654)CGC>TGC p.R218C NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 218 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CACACCTGGCGCTGGAAGTCG 0.672 NA 9 58 0 0 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020169 156020169 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:156020169C>T uc001fna.2 - 4 678 c.654G>A c.(652-654)ATG>ATA p.M218I UBQLN4_uc010pgx.1_Missense_Mutation_p.M198I NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 218 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) TGGCCATAATCATGTGACGCA 0.522 NA 6 137 0 0 0 0 DDX59 83479 broad.mit.edu 37 1 200619738 200619738 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:200619738C>G uc009wzk.2 - 5 1372 c.1129G>C c.(1129-1131)GAT>CAT p.D377H DDX59_uc010ppl.1_Missense_Mutation_p.D377H NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 377 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 GTCTGACAATCATTAGGAATG 0.353 NA 3 39 0 0 0 0 C1orf69 200205 broad.mit.edu 37 1 228362900 228362900 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:228362900G>A uc001hsl.3 + 3 846 c.757G>A c.(757-759)GTG>ATG p.V253M C1orf69_uc010pvw.1_Missense_Mutation_p.V60M NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 253 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) CATGAACGGCGTGAGCTTCAC 0.642 NA 10 92 0 0 0 0 C1orf198 84886 broad.mit.edu 37 1 230979431 230979431 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:230979431C>T uc001hub.2 - 3 640 c.596G>A c.(595-597)CGA>CAA p.R199Q C1orf198_uc009xfh.1_Missense_Mutation_p.R69Q|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.R161Q NM_032800 NP_116189 Q9H425 CA198_HUMAN hypothetical protein LOC84886 isoform 1 199 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CCCCTCCCCTCGGGACCGCTC 0.627 NA 24 111 0 0 0 0 OR2L3 391192 broad.mit.edu 37 1 248224880 248224880 + Silent SNP C C A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:248224880C>A uc001idx.1 + 1 897 c.897C>A c.(895-897)GCC>GCA p.A299A OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGATGGGGGCCCTGACACGAG 0.493 NA 10 58 0.00621372 0.00668162 1 0 OR2M3 127062 broad.mit.edu 37 1 248366774 248366774 + Silent SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:248366774C>G uc010pzg.1 + 1 405 c.405C>G c.(403-405)CTC>CTG p.L135L NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 135 Cytoplasmic (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) ACACCAATCTCATGAGCCCTA 0.438 NA 13 247 0 0 0 0 SEC61A2 55176 broad.mit.edu 37 10 12197794 12197794 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr10:12197794G>A uc001ile.2 + 7 627 c.480G>A c.(478-480)TTG>TTA p.L160L SEC61A2_uc010qbq.1_Silent_p.L138L|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Silent_p.L160L NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Sec61 alpha form 2 isoform a 160 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 Renal(717;0.228) TTGCTGGTTTGATTGTGCTGC 0.473 NA 34 303 0 0 0 0 ACBD5 91452 broad.mit.edu 37 10 27512312 27512312 + Missense_Mutation SNP T T A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr10:27512312T>A uc010qdp.1 - 5 636 c.445A>T c.(445-447)ATT>TTT p.I149F ACBD5_uc010qdm.1_Missense_Mutation_p.I147F|ACBD5_uc010qdn.1_Missense_Mutation_p.I40F|ACBD5_uc010qdo.1_Missense_Mutation_p.I40F|ACBD5_uc001ito.2_Missense_Mutation_p.I114F|ACBD5_uc001itp.2_Missense_Mutation_p.I40F|ACBD5_uc001itq.2_Missense_Mutation_p.I40F|ACBD5_uc001itr.1_5'UTR NM_145698 NP_663736 Q5T8D3 ACBD5_HUMAN acyl-Coenzyme A binding domain containing 5 147 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding 0 TCCTCGACAATTTCATAAAAT 0.318 NA 3 51 0 0 0 0 IFIT2 3433 broad.mit.edu 37 10 91066451 91066451 + Silent SNP A A T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr10:91066451A>T uc009xts.2 + 2 913 c.738A>T c.(736-738)GTA>GTT p.V246V LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 246 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) CCCCAGGTGTAACAGATGTTC 0.438 NA 19 54 0 0 0 0 TACC2 10579 broad.mit.edu 37 10 123970684 123970684 + Silent SNP G G A rs35532970 TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr10:123970684G>A uc001lfv.2 + 9 7104 c.6744G>A c.(6742-6744)TCG>TCA p.S2248S TACC2_uc001lfw.2_Silent_p.S394S|TACC2_uc009xzx.2_Silent_p.S2203S|TACC2_uc010qtv.1_Silent_p.S2252S|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.S326S|TACC2_uc001lga.2_Silent_p.S326S|TACC2_uc009xzy.2_Silent_p.S326S|TACC2_uc001lgb.2_Silent_p.S283S|TACC2_uc010qtw.1_Silent_p.S343S NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2248 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TAACCCCATCGGATAGCGGGG 0.602 NA 5 55 0 0 0 0 CUZD1 50624 broad.mit.edu 37 10 124598737 124598737 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr10:124598737C>T uc001lgq.2 - 3 576 c.244G>A c.(244-246)GAT>AAT p.D82N CUZD1_uc001lgp.2_5'Flank|CUZD1_uc009yad.2_5'Flank|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.D82N|CUZD1_uc010qtz.1_Missense_Mutation_p.D82N NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 82 CUB 1.|Extracellular (Potential). cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CAGCTTCCATCTGGATCAAGC 0.453 NA 7 107 0 0 0 0 NLRP6 171389 broad.mit.edu 37 11 281225 281225 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr11:281225C>G uc010qvs.1 + 4 1491 c.1491C>G c.(1489-1491)TTC>TTG p.F497L NLRP6_uc010qvt.1_Missense_Mutation_p.F497L NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 497 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) CCTACCAGTTCATCGACCAGA 0.627 NA 5 122 0 0 0 0 NUP98 4928 broad.mit.edu 37 11 3727721 3727721 + Nonsense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr11:3727721G>C uc001lyh.2 - 21 3170 c.2879C>G c.(2878-2880)TCA>TGA p.S960* NUP98_uc001lyi.2_Nonsense_Mutation_p.S960*|NUP98_uc001lyg.2_Nonsense_Mutation_p.S28* NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 977 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AATATGTGTTGAGGCAGACAC 0.423 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 4 127 0 0 0 0 PSMA1 5682 broad.mit.edu 37 11 14540580 14540580 + Missense_Mutation SNP T T C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr11:14540580T>C uc001mlk.2 - 2 157 c.11A>G c.(10-12)AAT>AGT p.N4S PSMA1_uc001mll.2_Missense_Mutation_p.N10S|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_5'UTR|PSMA1_uc010rcq.1_Missense_Mutation_p.N4S NM_002786 NP_002777 P25786 PSA1_HUMAN proteasome alpha 1 subunit isoform 2 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity upper_aerodigestive_tract(1)|skin(1) 2 GTCATACTGATTTCGAAACTA 0.308 NA 10 37 0 0 0 0 LDHC 3948 broad.mit.edu 37 11 18467778 18467778 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr11:18467778G>A uc001mon.3 + 7 844 c.732G>A c.(730-732)CTG>CTA p.L244L LDHC_uc001mom.3_Silent_p.L244L|LDHC_uc009yhp.2_Intron|LDHC_uc001moo.3_Silent_p.L128L|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Intron NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 244 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) TTATCAAGCTGAAGGGGTATA 0.373 NA 6 78 0 0 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110451310 110451310 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr11:110451310C>G uc001pkz.1 - 16 2645 c.2360G>C c.(2359-2361)GGA>GCA p.G787A ARHGAP20_uc001pky.1_Missense_Mutation_p.G764A|ARHGAP20_uc009yyb.1_Missense_Mutation_p.G751A|ARHGAP20_uc001pla.1_Missense_Mutation_p.G751A|ARHGAP20_uc001plb.2_Missense_Mutation_p.G330A NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 787 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CACGTGATTTCCTTCACTACC 0.413 NA 5 97 0 0 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919137 21919137 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr12:21919137C>G uc001rff.2 - 3 1133 c.795G>C c.(793-795)TTG>TTC p.L265F NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 265 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) GGCAGATGATCAAAGGGGCCA 0.478 NA 15 34 0 0 0 0 FAR2 55711 broad.mit.edu 37 12 29486610 29486610 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr12:29486610C>T uc001ris.3 + 12 1578 c.1431C>T c.(1429-1431)ATC>ATT p.I477I FAR2_uc001rit.2_Silent_p.I477I|FAR2_uc009zjm.2_Silent_p.I380I NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 477 Helical; (Potential). ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 TCTTCCTTATCGCCTGGCGCC 0.428 NA 12 185 0 0 0 0 SOAT2 8435 broad.mit.edu 37 12 53509201 53509201 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr12:53509201C>T uc001sbv.2 + 6 559 c.471C>T c.(469-471)ATC>ATT p.I157I SOAT2_uc009zms.2_RNA NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 157 Helical; (Potential). cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 ACCTACTGATCTTCAGCTTCG 0.552 NA 3 42 0 0 0 0 METTL7B 196410 broad.mit.edu 37 12 56075775 56075775 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr12:56075775C>T uc010spr.1 + 1 446 c.237C>T c.(235-237)TGC>TGT p.C79C NM_152637 NP_689850 Q6UX53 MET7B_HUMAN methyltransferase like 7B precursor 79 methyltransferase activity 0 AGCTGGGCTGCGGAACCGGAG 0.572 NA 9 29 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109684111 109684111 + Missense_Mutation SNP A A G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr12:109684111A>G uc001tob.2 + 39 5548 c.5429A>G c.(5428-5430)TAC>TGC p.Y1810C ACACB_uc001toc.2_Missense_Mutation_p.Y1810C|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.Y476C NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1810 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GACCTTCTGTACCTGCGGGCA 0.562 NA 4 107 0 0 0 0 CIT 11113 broad.mit.edu 37 12 120166409 120166409 + Silent SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr12:120166409G>C uc001txi.1 - 27 3416 c.3363C>G c.(3361-3363)CTC>CTG p.L1121L CIT_uc001txh.1_Silent_p.L655L|CIT_uc001txj.1_Silent_p.L1163L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1121 Potential.|Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCAGGTCATTGAGCTAGACAT 0.438 NA 7 143 0 0 0 0 LNX2 222484 broad.mit.edu 37 13 28136648 28136648 + Missense_Mutation SNP C C A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr13:28136648C>A uc001url.3 - 5 1435 c.1126G>T c.(1126-1128)GCC>TCC p.A376S LNX2_uc001urm.1_Missense_Mutation_p.A376S NM_153371 NP_699202 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 376 PDZ 2. zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 6 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CCGTCCTGGGCAGCCAACCCC 0.532 NA 20 150 1.18e-14 1.4e-14 1 0 FLT3 2322 broad.mit.edu 37 13 28609671 28609671 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr13:28609671G>C uc001urw.2 - 12 1640 c.1558C>G c.(1558-1560)CTT>GTT p.L520V FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L520V NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 520 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GATGTGCCAAGGGAATTGTAT 0.453 NA Mis|O AML|ALL 5 84 0 0 0 0 ZC3H13 23091 broad.mit.edu 37 13 46559752 46559752 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr13:46559752C>T uc010tfw.1 - 9 1406 c.1400G>A c.(1399-1401)CGA>CAA p.R467Q ZC3H13_uc001vas.1_Missense_Mutation_p.R467Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R467Q NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 467 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TAGTTCCCTTCGGTCCCTAGT 0.507 NA 12 181 0 0 0 0 NEK5 341676 broad.mit.edu 37 13 52660423 52660423 + Missense_Mutation SNP C C A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr13:52660423C>A uc001vge.2 - 16 1609 c.1469G>T c.(1468-1470)AGA>ATA p.R490I NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 490 ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CTCTGGTTCTCTCCCCATCTT 0.363 NA 13 42 0.000151284 0.000168251 1 0 CHD8 57680 broad.mit.edu 37 14 21870656 21870656 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr14:21870656C>T uc001was.1 - 19 2978 c.2884G>A c.(2884-2886)GCA>ACA p.A962T CHD8_uc001war.1_Missense_Mutation_p.A858T|CHD8_uc001wav.1_Missense_Mutation_p.A404T NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1241 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGACATCGTGCCTGGGCCTGG 0.413 NA 17 26 0 0 0 0 COCH 1690 broad.mit.edu 37 14 31358870 31358870 + Missense_Mutation SNP T T G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr14:31358870T>G uc001wqr.2 + 12 1606 c.1526T>G c.(1525-1527)CTG>CGG p.L509R COCH_uc001wqp.2_Missense_Mutation_p.L509R|COCH_uc001wqq.3_Intron|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.L360R NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 509 VWFA 2. sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) CTGGATGACCTGAAAGATATG 0.388 NA 7 39 0 0 0 0 FSCB 84075 broad.mit.edu 37 14 44975153 44975153 + Silent SNP A A T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr14:44975153A>T uc001wvn.2 - 1 1347 c.1038T>A c.(1036-1038)CTT>CTA p.L346L NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 346 Pro-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TTTCAGCCAGAAGCTCTACAG 0.507 NA 13 111 0 0 0 0 SLC39A9 55334 broad.mit.edu 37 14 69890883 69890883 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr14:69890883G>A uc001xle.2 + 2 849 c.169G>A c.(169-171)GAA>AAA p.E57K SLC39A9_uc001xld.3_RNA|SLC39A9_uc010aqx.2_Missense_Mutation_p.E57K|SLC39A9_uc001xlf.3_Missense_Mutation_p.E57K|SLC39A9_uc001xlg.3_RNA NM_018375 NP_060845 Q9NUM3 S39A9_HUMAN solute carrier family 39 (zinc transporter), 57 zinc ion transport integral to membrane metal ion transmembrane transporter activity 0 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) CATCGTGCCTGAAGGAGTACA 0.458 NA 8 37 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94060062 94060062 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr14:94060062G>A uc001ybv.1 + 20 2621 c.2538G>A c.(2536-2538)CTG>CTA p.L846L KIAA1409_uc001ybs.1_Silent_p.L846L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1023 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TCTCTCAGCTGTCTTCCCTGG 0.473 NA 27 108 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411954 105411954 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr14:105411954G>A uc010axc.1 - 7 9954 c.9834C>T c.(9832-9834)GTC>GTT p.V3278V AHNAK2_uc001ypx.2_Silent_p.V3178V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3278 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGGGGCCTCGACGTCCACCT 0.607 NA 30 234 0 0 0 0 THBS1 7057 broad.mit.edu 37 15 39881288 39881288 + Splice_Site SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr15:39881288G>A uc001zkh.2 + 11 1952 c.1773_splice c.e11+1 p.E591_splice THBS1_uc010bbi.2_Splice_Site_p.E63_splice NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TGTTGATGAGGTGAGGAACTG 0.517 NA 6 136 0 0 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85163919 85163919 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr15:85163919G>C uc002bkr.2 + 3 719 c.493G>C c.(493-495)GAA>CAA p.E165Q ZSCAN2_uc010bmz.1_Missense_Mutation_p.E163Q|ZSCAN2_uc010bna.2_Missense_Mutation_p.E15Q|ZSCAN2_uc010uox.1_Missense_Mutation_p.E164Q|ZSCAN2_uc010uoy.1_Missense_Mutation_p.E164Q|ZSCAN2_uc010uoz.1_Missense_Mutation_p.E164Q NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 165 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) GGAAATGCCTGAAGGTGAAAG 0.473 NA 6 119 0 0 0 0 IQGAP1 8826 broad.mit.edu 37 15 91020962 91020962 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr15:91020962G>C uc002bpl.1 + 26 3271 c.3170G>C c.(3169-3171)AGT>ACT p.S1057T NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1057 Ras-GAP.|C1. 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) ATGGTTGTAAGTTTCAACCGT 0.408 NA 5 55 0 0 0 0 ARRDC4 91947 broad.mit.edu 37 15 98512388 98512388 + Missense_Mutation SNP T T C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr15:98512388T>C uc010bom.2 + 5 820 c.661T>C c.(661-663)TGT>CGT p.C221R ARRDC4_uc002bui.3_Missense_Mutation_p.C134R NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 221 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) AATAGAAAATTGTTCCTCTCG 0.393 NA 15 43 0 0 0 0 NDUFB10 4716 broad.mit.edu 37 16 2011519 2011519 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr16:2011519C>G uc002cni.2 + 3 400 c.291C>G c.(289-291)ATC>ATG p.I97M NDUFB10_uc002cnj.2_Missense_Mutation_p.I97M NM_004548 NP_004539 O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 97 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) AAGAAATTATCAACATTATGC 0.473 NA 6 192 0 0 0 0 C16orf45 89927 broad.mit.edu 37 16 15677026 15677026 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr16:15677026G>A uc002ddo.2 + 5 619 c.433G>A c.(433-435)GAC>AAC p.D145N C16orf45_uc002ddp.2_Missense_Mutation_p.D128N NM_033201 NP_149978 Q96MC5 CP045_HUMAN hypothetical protein LOC89927 isoform 1 145 ovary(1) 1 GCAAGAAGAAGACAAGGAAAT 0.388 NA 17 104 0 0 0 0 RBBP6 5930 broad.mit.edu 37 16 24552017 24552017 + Missense_Mutation SNP A A G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr16:24552017A>G uc002dmh.2 + 1 1110 c.70A>G c.(70-72)ATC>GTC p.I24V RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Missense_Mutation_p.I24V|RBBP6_uc002dmi.2_Missense_Mutation_p.I24V|RBBP6_uc010bxr.2_Missense_Mutation_p.I24V NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 24 DWNN. protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) TGGGCTCCACATCTCCCTCTG 0.483 NA 14 59 0 0 0 0 ZNF48 197407 broad.mit.edu 37 16 30410135 30410135 + Missense_Mutation SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr16:30410135G>T uc002dya.1 + 2 1623 c.1564G>T c.(1564-1566)GGC>TGC p.G522C ZNF48_uc002dxz.1_Missense_Mutation_p.G399C NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 522 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAACCCACCTGGCCCAGTACC 0.677 NA 5 110 0.00116845 0.00127175 1 0 NLRC5 84166 broad.mit.edu 37 16 57101666 57101666 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr16:57101666C>T uc002ekk.1 + 36 4650 c.4425C>T c.(4423-4425)CTC>CTT p.L1475L NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Silent_p.L17L|NLRC5_uc002ekr.1_Silent_p.L362L NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1475 LRR 15. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) AGGTTAACCTCTGTGAGGACG 0.507 NA 5 79 0 0 0 0 EDC4 23644 broad.mit.edu 37 16 67913808 67913808 + Missense_Mutation SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr16:67913808G>T uc002eur.2 + 16 2043 c.1877G>T c.(1876-1878)AGC>ATC p.S626I EDC4_uc010cer.2_Missense_Mutation_p.S245I|EDC4_uc010vkg.1_Missense_Mutation_p.S558I|EDC4_uc002eus.2_Missense_Mutation_p.S356I|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 626 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) agcagcagtagcagcagcTCC 0.448 NA 20 49 5.35e-07 6.22e-07 1 0 HYDIN 54768 broad.mit.edu 37 16 70867859 70867859 + Missense_Mutation SNP C C A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr16:70867859C>A uc002ezr.2 - 79 13735 c.13607G>T c.(13606-13608)GGA>GTA p.G4536V HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4537 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CACCACGGGTCCAAAGGGAAT 0.587 NA 7 11 2.18e-05 2.46e-05 1 0 MYO1C 4641 broad.mit.edu 37 17 1387008 1387008 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:1387008G>A uc002fsp.2 - 3 463 c.243C>T c.(241-243)GGC>GGT p.G81G MYO1C_uc002fsn.2_Silent_p.G62G|MYO1C_uc002fso.2_Silent_p.G46G|MYO1C_uc010vqj.1_Silent_p.G46G|MYO1C_uc010vqk.1_Silent_p.G57G NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 81 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCAGGACGGGGCCAATGTAGG 0.433 NA 3 16 0 0 0 0 PRPF8 10594 broad.mit.edu 37 17 1562841 1562841 + Missense_Mutation SNP C C A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:1562841C>A uc002fte.2 - 32 5062 c.4948G>T c.(4948-4950)GAT>TAT p.D1650Y NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1650 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCCATCACATCCCTGAGGATG 0.527 NA 9 78 0.000274275 0.000300357 1 0 MYOCD 93649 broad.mit.edu 37 17 12666526 12666526 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:12666526C>G uc002gnn.2 + 13 2681 c.2382C>G c.(2380-2382)ATC>ATG p.I794M MYOCD_uc002gno.2_Missense_Mutation_p.I842M|MYOCD_uc002gnq.2_Missense_Mutation_p.I518M NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 794 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCAGCCAGATCCCCTTTGATC 0.483 NA 6 110 0 0 0 0 SREBF1 6720 broad.mit.edu 37 17 17718569 17718569 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:17718569G>A uc002gru.1 - 13 2652 c.2458C>T c.(2458-2460)CCC>TCC p.P820S SREBF1_uc002grp.1_Missense_Mutation_p.P439S|SREBF1_uc002grq.1_Missense_Mutation_p.P339S|SREBF1_uc002grr.1_Missense_Mutation_p.P566S|SREBF1_uc002grs.1_Missense_Mutation_p.P796S|SREBF1_uc002grt.1_Missense_Mutation_p.P850S|MIR33B_hsa-mir-33b|MI0003646_5'Flank NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 820 Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 CTGGGGTTGGGCTGGGTCACA 0.617 NA 8 104 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18040913 18040913 + Missense_Mutation SNP A A G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:18040913A>G uc010vxh.1 + 15 5133 c.4795A>G c.(4795-4797)AGC>GGC p.S1599G NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1599 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GAGCTTCAACAGCTTTGAGCA 0.532 NA 5 56 0 0 0 0 KIAA0100 9703 broad.mit.edu 37 17 26948139 26948139 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:26948139G>A uc002hbu.2 - 28 5208 c.5109C>T c.(5107-5109)ATC>ATT p.I1703I KIAA0100_uc002hbt.2_Silent_p.I32I NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1703 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AACGCGAAATGATCCGCTGGA 0.448 NA 4 64 0 0 0 0 AOC3 8639 broad.mit.edu 37 17 41004139 41004139 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:41004139C>T uc002ibv.2 + 1 939 c.779C>T c.(778-780)ACT>ATT p.T260I NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 260 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GCCCGCTGGACTATCCAGAAG 0.597 NA 9 40 0 0 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475597 42475597 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:42475597G>A uc002igw.1 - 8 3912 c.3848C>T c.(3847-3849)GCA>GTA p.A1283V GPATCH8_uc002igv.1_Missense_Mutation_p.A1205V|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1205V NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1283 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ACTGGGAGGTGCATAACTGGG 0.592 NA 7 177 0 0 0 0 DNAH17 8632 broad.mit.edu 37 17 76506502 76506502 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:76506502G>A uc010wtu.1 - 1 252 c.75C>T c.(73-75)ATC>ATT p.I25I full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human). ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCTTGTCCACGATGTTGCGGA 0.532 NA 7 199 0 0 0 0 SIRT7 51547 broad.mit.edu 37 17 79872320 79872320 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:79872320G>A uc002kcj.1 - 7 699 c.666C>T c.(664-666)GGC>GGT p.G222G SIRT7_uc002kck.1_Silent_p.G73G|SIRT7_uc002kcl.1_Silent_p.G140G NM_016538 NP_057622 Q9NRC8 SIRT7_HUMAN sirtuin 7 222 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGCAGGTCCGGCCTGTCTGGT 0.632 NA 9 28 0 0 0 0 UTS2R 2837 broad.mit.edu 37 17 80332288 80332288 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr17:80332288G>A uc010wvl.1 + 1 88 c.88G>A c.(88-90)GCA>ACA p.A30T NM_018949 NP_061822 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 30 Extracellular (Potential). integral to membrane|plasma membrane breast(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) CGGCCCCAACGCAACCCTCAA 0.711 NA 3 14 0 0 0 0 DPP9 91039 broad.mit.edu 37 19 4704050 4704050 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr19:4704050G>A uc002mba.2 - 7 875 c.617C>T c.(616-618)CCG>CTG p.P206L DPP9_uc002mbb.2_Missense_Mutation_p.P206L|DPP9_uc002mbc.2_Missense_Mutation_p.P206L NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 177 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GATTTCCAGCGGTTTCATAGG 0.632 NA 8 41 0 0 0 0 HOMER3 9454 broad.mit.edu 37 19 19042181 19042181 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr19:19042181C>T uc002nku.2 - 8 1500 c.847G>A c.(847-849)GAG>AAG p.E283K HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Missense_Mutation_p.E247K|HOMER3_uc010ebz.2_Missense_Mutation_p.E283K|HOMER3_uc002nkw.2_Missense_Mutation_p.E283K|HOMER3_uc002nkv.2_Missense_Mutation_p.E283K NM_004838 NP_004829 Q9NSC5 HOME3_HUMAN Homer, neuronal immediate early gene, 3 isoform 283 Potential. metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding 0 Epithelial(12;0.0107) TCCAGGGCCTCGCGGGGCCCC 0.627 NA 6 99 0 0 0 0 ZNF527 84503 broad.mit.edu 37 19 37880095 37880095 + Missense_Mutation SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr19:37880095G>T uc010efk.1 + 5 1255 c.1144G>T c.(1144-1146)GGT>TGT p.G382C ZNF527_uc002ogf.3_Missense_Mutation_p.G350C|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATTCACACAGGTGAGAAACC 0.433 NA 8 38 1.13e-05 1.29e-05 1 0 PSG1 5669 broad.mit.edu 37 19 43382262 43382262 + Missense_Mutation SNP T T C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr19:43382262T>C uc002ovb.2 - 2 371 c.233A>G c.(232-234)TAC>TGC p.Y78C PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.Y78C|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.Y78C|PSG1_uc010eio.1_Missense_Mutation_p.Y78C|PSG1_uc002oux.1_Missense_Mutation_p.Y7C|PSG1_uc002ouy.1_Missense_Mutation_p.Y78C|PSG1_uc002ouz.1_Missense_Mutation_p.Y78C|PSG1_uc002ova.1_Missense_Mutation_p.Y78C|PSG1_uc002ovc.2_Missense_Mutation_p.Y78C|PSG1_uc002ovd.1_Missense_Mutation_p.Y78C NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 78 Ig-like V-type. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) TGATGTAATGTAATGGTAGAG 0.433 NA 63 268 0 0 0 0 ZNF471 57573 broad.mit.edu 37 19 57037232 57037232 + Missense_Mutation SNP A A G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr19:57037232A>G uc002qnh.2 + 5 1929 c.1796A>G c.(1795-1797)TAT>TGT p.Y599C NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 599 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) CAAAGGCCCTATCAGTGTTTT 0.413 NA 10 42 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57327549 57327549 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr19:57327549G>A uc002qnu.2 - 7 2612 c.2261C>T c.(2260-2262)TCT>TTT p.S754F ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S725F|PEG3_uc002qnv.2_Missense_Mutation_p.S754F|PEG3_uc002qnw.2_Missense_Mutation_p.S630F|PEG3_uc002qnx.2_Missense_Mutation_p.S628F|PEG3_uc010etr.2_Missense_Mutation_p.S754F NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 754 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATAGGGGTTAGAGCTAATGGT 0.413 NA 10 164 0 0 0 0 GALNT14 79623 broad.mit.edu 37 2 31215732 31215732 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:31215732G>A uc002rnr.2 - 2 890 c.271C>T c.(271-273)CGG>TGG p.R91W GALNT14_uc002rnq.2_Missense_Mutation_p.R71W|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R56W|GALNT14_uc010ezo.1_Missense_Mutation_p.R91W|GALNT14_uc010ezp.1_Missense_Mutation_p.R62W NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 91 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GGGATGGCCCGATTGCTGGAG 0.562 NA 6 89 0 0 0 0 EFEMP1 2202 broad.mit.edu 37 2 56097911 56097911 + Missense_Mutation SNP T T G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:56097911T>G uc002rzh.2 - 10 1594 c.1264A>C c.(1264-1266)ACC>CCC p.T422P EFEMP1_uc002rzi.2_Missense_Mutation_p.T422P|EFEMP1_uc002rzj.2_Missense_Mutation_p.T422P|EFEMP1_uc010ypc.1_Missense_Mutation_p.T284P NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 422 Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTATTGATGGTGTTGGCATAA 0.418 NA 3 58 0 0 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049988 69049988 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:69049988G>C uc002seu.2 + 10 2078 c.1714G>C c.(1714-1716)GAG>CAG p.E572Q ARHGAP25_uc010fdg.2_Missense_Mutation_p.E573Q|ARHGAP25_uc010yql.1_Missense_Mutation_p.E533Q|ARHGAP25_uc002sew.2_Missense_Mutation_p.E565Q|ARHGAP25_uc002sex.2_Missense_Mutation_p.E566Q|ARHGAP25_uc002sey.2_Missense_Mutation_p.E299Q NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 572 Potential. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GCAAATGTATGAGGAACAGAT 0.448 NA 3 54 0 0 0 0 PCGF1 84759 broad.mit.edu 37 2 74733102 74733102 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:74733102C>T uc002slz.2 - 5 533 c.507G>A c.(505-507)TTG>TTA p.L169L LBX2_uc002slw.2_5'Flank|PCGF1_uc002sly.2_Silent_p.L86L NM_032673 NP_116062 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 169 histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex protein C-terminus binding|zinc ion binding ovary(1) 1 GGCACAGGTTCAACTGCTCAT 0.577 NA 13 197 0 0 0 0 GGCX 2677 broad.mit.edu 37 2 85781368 85781368 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:85781368C>G uc002sps.2 - 7 893 c.787G>C c.(787-789)GAC>CAC p.D263H GGCX_uc010yss.1_Missense_Mutation_p.D102H|GGCX_uc010yst.1_Missense_Mutation_p.D206H NM_000821 NP_000812 P38435 VKGC_HUMAN gamma-glutamyl carboxylase isoform 1 263 Lumenal (Potential). blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity ovary(1) 1 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) GCTGAGAGGTCAAGCAGCAGC 0.507 NA 6 183 0 0 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514726 113514726 + Missense_Mutation SNP G G C rs77207496 byFrequency TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:113514726G>C uc002tie.2 - 4 301 c.222C>G c.(220-222)ATC>ATG p.I74M CKAP2L_uc002tif.2_Translation_Start_Site|CKAP2L_uc010yxp.1_Translation_Start_Site|CKAP2L_uc010yxq.1_Translation_Start_Site NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 74 centrosome 0 GTTTAATGCTGATGGACCTTT 0.413 NA 7 183 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141250263 141250263 + Splice_Site SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:141250263C>G uc002tvj.1 - 57 10007 c.9035_splice c.e57-1 p.D3012_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 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) GGTTCTTCATCTAAACACCAA 0.338 NA TSP Lung(27;0.18) 6 67 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:178098810C>T uc002ulh.3 - 2 790 c.235G>A c.(235-237)GAG>AAG p.E79K NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 5 58 0 0 0 0 ARMC9 80210 broad.mit.edu 37 2 232123816 232123816 + Splice_Site SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr2:232123816G>A uc002vrq.3 + 11 1138 c.1026_splice c.e11+1 p.W342_splice ARMC9_uc002vrp.3_Splice_Site_p.W342_splice NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TCTGCGCTGGGTAGGTACCTT 0.438 NA 11 27 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61542619 61542619 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr20:61542619C>T uc002ydr.1 - 3 610 c.346G>A c.(346-348)GAA>AAA p.E116K DIDO1_uc002yds.1_Missense_Mutation_p.E116K|DIDO1_uc002ydt.1_Missense_Mutation_p.E116K|DIDO1_uc002ydu.1_Missense_Mutation_p.E116K|DIDO1_uc002ydv.1_Missense_Mutation_p.E116K|DIDO1_uc002ydw.1_Missense_Mutation_p.E116K|DIDO1_uc002ydx.1_Missense_Mutation_p.E116K|DIDO1_uc011aao.1_Missense_Mutation_p.E116K NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 116 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GAAGCGCTTTCCACGCTGCCC 0.637 NA 6 41 0 0 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61914181 61914181 + Missense_Mutation SNP T T G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr20:61914181T>G uc002yem.2 + 9 807 c.695T>G c.(694-696)TTT>TGT p.F232C ARFGAP1_uc011aas.1_Missense_Mutation_p.F179C|ARFGAP1_uc011aat.1_Missense_Mutation_p.F119C|ARFGAP1_uc002yel.2_Missense_Mutation_p.F232C|ARFGAP1_uc002yen.2_Missense_Mutation_p.F232C|ARFGAP1_uc002yeo.1_5'Flank NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 232 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) GCTACAAAGTTTGGATCCCAA 0.507 NA 15 42 0 0 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19704465 19704465 + Silent SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr21:19704465C>G uc002ykw.2 - 14 1621 c.1590G>C c.(1588-1590)CTG>CTC p.L530L NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 530 Extracellular (Potential).|CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TTGGCTCCCACAGCTCAAAAG 0.403 NA 4 56 0 0 0 0 CECR5 27440 broad.mit.edu 37 22 17629399 17629399 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr22:17629399C>T uc002zmf.2 - 3 410 c.382G>A c.(382-384)GAG>AAG p.E128K CECR5_uc002zme.2_5'UTR|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.E98K NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 128 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) TCATGGTACTCGGAGAAGAGC 0.557 NA 14 260 0 0 0 0 SREBF2 6721 broad.mit.edu 37 22 42294718 42294718 + Missense_Mutation SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr22:42294718G>T uc003bbi.2 + 15 2840 c.2671G>T c.(2671-2673)GAC>TAC p.D891Y WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA|uc011api.1_5'Flank|MIR33A_hsa-mir-33a|MI0000091_5'Flank NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 891 Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 GCTCCAGGGAGACGATGCAGC 0.567 NA 13 23 9.31e-06 1.07e-05 1 0 MPPED1 758 broad.mit.edu 37 22 43870809 43870809 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr22:43870809C>T uc011apv.1 + 4 823 c.600C>T c.(598-600)ACC>ACT p.T200T MPPED1_uc011apw.1_Silent_p.T94T|MPPED1_uc011apx.1_Silent_p.T42T|MPPED1_uc011apy.1_Silent_p.T200T|MPPED1_uc011apz.1_Silent_p.T233T NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 200 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) CGGAGGTCACCGTGCGGGGCT 0.522 NA 24 54 0 0 0 0 TGFBR2 7048 broad.mit.edu 37 3 30715720 30715720 + Missense_Mutation SNP C C T rs104893811 TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr3:30715720C>T uc003ceo.2 + 5 1760 c.1378C>T c.(1378-1380)CGC>TGC p.R460C TGFBR2_uc003cen.2_Missense_Mutation_p.R485C NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 460 Protein kinase.|Cytoplasmic (Potential). R -> C (in AAT3).|R -> H (in AAT3). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 AATGACATCTCGCTGTAATGC 0.458 NA 7 63 0 0 0 0 ITIH4 3700 broad.mit.edu 37 3 52857598 52857598 + Missense_Mutation SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr3:52857598G>T uc003dfz.2 - 11 1549 c.1513C>A c.(1513-1515)CTC>ATC p.L505I ITIH4_uc011bel.1_Missense_Mutation_p.L235I|ITIH4_uc003dfy.2_Missense_Mutation_p.L369I|ITIH4_uc011bem.1_Missense_Mutation_p.L505I|ITIH4_uc011ben.1_Missense_Mutation_p.L505I NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 505 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GTGGCTGTGAGCACATCAGGC 0.612 NA 8 22 0.000157383 0.00017395 1 0 CACNA1D 776 broad.mit.edu 37 3 53844020 53844020 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr3:53844020G>A uc003dgv.3 + 47 6050 c.5887G>A c.(5887-5889)GGC>AGC p.G1963S CACNA1D_uc003dgu.3_Missense_Mutation_p.G1983S|CACNA1D_uc003dgy.3_Missense_Mutation_p.G1939S|CACNA1D_uc003dgw.3_Missense_Mutation_p.G1630S|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1963 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGCAGTTGCCGGCCTAGATTC 0.612 NA 16 73 0 0 0 0 C3orf38 285237 broad.mit.edu 37 3 88205752 88205752 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr3:88205752G>A uc003dqw.2 + 4 1268 c.957G>A c.(955-957)CAG>CAA p.Q319Q NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 319 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) ATGTAAAGCAGGCTTCGGATA 0.408 NA 20 70 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 8 50 0 0 0 0 ZBTB49 166793 broad.mit.edu 37 4 4314793 4314793 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr4:4314793G>A uc003ghu.2 + 5 1503 c.1328G>A c.(1327-1329)CGA>CAA p.R443Q ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_Intron|ZBTB49_uc010icz.2_Intron NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 443 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 ACTCACTTACGACGGCATTCT 0.408 NA 7 50 0 0 0 0 EVC 2121 broad.mit.edu 37 4 5800433 5800433 + Missense_Mutation SNP A A G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr4:5800433A>G uc003gil.1 + 15 2402 c.2218A>G c.(2218-2220)ATG>GTG p.M740V EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 740 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) GCAGCAGCACATGGAGTGCGC 0.652 NA 6 15 0 0 0 0 AFAP1 60312 broad.mit.edu 37 4 7873772 7873772 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr4:7873772G>C uc003gkg.1 - 2 307 c.34C>G c.(34-36)CTT>GTT p.L12V AFAP1_uc011bwk.1_Missense_Mutation_p.L12V NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 12 actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 AGGAGTTCAAGAAAGAGACGA 0.383 NA 3 61 0 0 0 0 SOD3 6649 broad.mit.edu 37 4 24801554 24801554 + Silent SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr4:24801554G>C uc003gqz.2 + 2 616 c.411G>C c.(409-411)GTG>GTC p.V137V SOD3_uc003gqy.1_RNA NM_003102 NP_003093 P08294 SODE_HUMAN superoxide dismutase 3, extracellular precursor 137 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding 0 Breast(46;0.0503) CGCTGGCCGTGCCGCACCCGC 0.751 NA 4 26 0 0 0 0 ADAD1 132612 broad.mit.edu 37 4 123336584 123336584 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr4:123336584C>T uc003ieo.2 + 11 1532 c.1300C>T c.(1300-1302)CGT>TGT p.R434C ADAD1_uc003iep.2_Missense_Mutation_p.R423C|ADAD1_uc003ieq.2_Missense_Mutation_p.R416C NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 434 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TATAAAGCAACGTGTTGATGA 0.368 NA 15 75 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187629100 187629100 + Nonsense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr4:187629100G>A uc003izf.2 - 2 2070 c.1882C>T c.(1882-1884)CGA>TGA p.R628* FAT1_uc010iso.1_Nonsense_Mutation_p.R628* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 628 Extracellular (Potential).|Cadherin 5. 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 ATTAGCGATCGCTTTAATGAC 0.403 NA HNSCC(5;0.00058) 6 63 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187630411 187630411 + Nonsense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr4:187630411G>A uc003izf.2 - 2 759 c.571C>T c.(571-573)CGA>TGA p.R191* FAT1_uc010iso.1_Nonsense_Mutation_p.R191* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 191 Extracellular (Potential).|Cadherin 2. 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 ATATCTGTTCGATCTTTAAAA 0.433 NA HNSCC(5;0.00058) 13 115 0 0 0 0 MIER3 166968 broad.mit.edu 37 5 56234739 56234739 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr5:56234739C>G uc003jrd.1 - 4 311 c.286G>C c.(286-288)GAT>CAT p.D96H MIER3_uc003jqz.1_Missense_Mutation_p.D33H|MIER3_uc003jra.1_Missense_Mutation_p.D96H|MIER3_uc003jrb.1_5'UTR|MIER3_uc003jrc.1_Missense_Mutation_p.D101H NM_152622 NP_689835 Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) GGTAGTTCATCTGCCAGTTCA 0.393 NA 6 63 0 0 0 0 SERINC5 256987 broad.mit.edu 37 5 79473175 79473175 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr5:79473175C>T uc003kgj.2 - 4 548 c.419G>A c.(418-420)GGA>GAA p.G140E SERINC5_uc003kgk.2_Missense_Mutation_p.G140E|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.G140E|SERINC5_uc011ctj.1_Missense_Mutation_p.G140E NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 140 Helical; (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GAAGAAAGCTCCTGAGCACAT 0.393 NA 6 58 0 0 0 0 C5orf13 9315 broad.mit.edu 37 5 111066653 111066653 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr5:111066653G>A uc003kpl.2 - 3 651 c.172C>T c.(172-174)CGC>TGC p.R58C C5orf13_uc011cvr.1_Missense_Mutation_p.R102C|C5orf13_uc011cvs.1_Missense_Mutation_p.R92C|C5orf13_uc003kpk.2_Intron|C5orf13_uc003kpm.2_Missense_Mutation_p.R58C|C5orf13_uc011cvk.1_Missense_Mutation_p.R58C|C5orf13_uc011cvl.1_Missense_Mutation_p.R58C|C5orf13_uc011cvm.1_Missense_Mutation_p.R58C|C5orf13_uc011cvn.1_Missense_Mutation_p.R58C|C5orf13_uc011cvo.1_Missense_Mutation_p.R58C|C5orf13_uc011cvp.1_Missense_Mutation_p.R58C|C5orf13_uc011cvq.1_Missense_Mutation_p.R58C NM_001142483 NP_001135955 Q16612 NP311_HUMAN neuronal protein 3.1 isoform a 58 cytoplasm skin(1) 1 all_cancers(142;0.00597)|all_epithelial(76;0.000144)|Prostate(80;0.0115)|Colorectal(10;0.0446)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;5.45e-09)|Epithelial(69;2e-08)|all cancers(49;1.9e-06)|COAD - Colon adenocarcinoma(37;0.0514)|Colorectal(14;0.0629) CTTGGGGAGCGGAGTTCACTG 0.458 NA 26 82 0 0 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140778900 140778900 + Silent SNP A A T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr5:140778900A>T uc003lkf.1 + 1 1206 c.1206A>T c.(1204-1206)ACA>ACT p.T402T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.T402T NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 402 Cadherin 4.|Extracellular (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) AGTTGGTAACAGATGGAACCC 0.478 NA 9 45 0 0 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140799566 140799566 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr5:140799566C>T uc003lkn.1 + 1 2285 c.2140C>T c.(2140-2142)CGC>TGC p.R714C 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_uc003lkm.2_Missense_Mutation_p.R714C|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 714 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATTGCTCTACGCCTGCGACA 0.552 NA 26 54 0 0 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140810887 140810887 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr5:140810887C>T uc003lkt.1 + 1 730 c.561C>T c.(559-561)GAC>GAT p.D187D 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_uc011dba.1_Silent_p.D187D NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 187 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGAGCCGACGGTAGTAAGT 0.607 NA 9 132 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 160033923 160033923 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr5:160033923C>T uc003lym.1 - 19 3856 c.3009G>A c.(3007-3009)TTG>TTA p.L1003L ATP10B_uc010jit.1_Silent_p.L320L NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1003 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGATGGCATTCAATGTCTTCC 0.512 NA 5 111 0 0 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313527 1313527 + Silent SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:1313527C>G uc003mtl.3 + 1 853 c.588C>G c.(586-588)CTC>CTG p.L196L NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 196 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) ACTGGATGCTCAACCCCAACA 0.547 NA 3 62 0 0 0 0 SIRT5 23408 broad.mit.edu 37 6 13601120 13601120 + Missense_Mutation SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:13601120G>T uc003nay.2 + 9 1092 c.796G>T c.(796-798)GCC>TCC p.A266S SIRT5_uc003naw.2_Missense_Mutation_p.A266S|SIRT5_uc003nax.2_Missense_Mutation_p.A158S|SIRT5_uc011dit.1_Missense_Mutation_p.A248S NM_012241 NP_036373 Q9NXA8 SIRT5_HUMAN sirtuin 5 isoform 1 266 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding skin(2)|upper_aerodigestive_tract(1) 3 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) CCAGGTGGCTGCCAGGGGCGT 0.577 NA 7 39 0.000274275 0.000300357 1 0 RBM24 221662 broad.mit.edu 37 6 17291995 17291995 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:17291995C>T uc003nbz.3 + 4 360 c.356C>T c.(355-357)GCC>GTC p.A119V RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A61V|RBM24_uc003nca.2_Missense_Mutation_p.A74V|RBM24_uc011diy.1_Missense_Mutation_p.P33S|RBM24_uc011diz.1_Missense_Mutation_p.P18S NM_001143942 NP_001137414 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 isoform 1 119 cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding ovary(1)|skin(1) 2 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) AGGATACCTGCCCACTATGTC 0.483 NA 26 162 0 0 0 0 ETV7 51513 broad.mit.edu 37 6 36334462 36334462 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:36334462C>T uc003omb.2 - 8 1135 c.986G>A c.(985-987)AGA>AAA p.R329K ETV7_uc003olz.1_Intron|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.R274K|ETV7_uc010jwj.2_Missense_Mutation_p.R270K|ETV7_uc010jwh.2_Missense_Mutation_p.R248K|ETV7_uc010jwi.2_Missense_Mutation_p.R252K|ETV7_uc011dtl.1_Missense_Mutation_p.R178K NM_016135 NP_057219 Q9Y603 ETV7_HUMAN ets variant 7 329 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GAACTCTATTCTGTCCTGCTC 0.577 NA 6 149 0 0 0 0 UTRN 7402 broad.mit.edu 37 6 145103095 145103095 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:145103095C>G uc003qkt.2 + 60 8762 c.8670C>G c.(8668-8670)TTC>TTG p.F2890L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2890 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATGAAATTTTCAAACAGCACA 0.338 NA 4 37 0 0 0 0 RGS17 26575 broad.mit.edu 37 6 153347617 153347617 + Missense_Mutation SNP T T G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:153347617T>G uc003qpm.2 - 3 337 c.181A>C c.(181-183)ATG>CTG p.M61L NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 61 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) ATACTCTCCATTTTTGTAGTG 0.413 NA Lung_Cancer_Familial_Clustering_of 31 79 0 0 0 0 SERAC1 84947 broad.mit.edu 37 6 158565392 158565392 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:158565392C>T uc003qrc.2 - 7 690 c.548G>A c.(547-549)CGA>CAA p.R183Q SERAC1_uc003qrb.2_5'UTR NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 183 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CTCTTCGCTTCGTGCCAAACC 0.338 NA 4 47 0 0 0 0 THBS2 7058 broad.mit.edu 37 6 169648845 169648845 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:169648845C>G uc003qwt.2 - 4 524 c.276G>C c.(274-276)CAG>CAC p.Q92H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 92 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) ACTTGCCGTCCTGCTTGAGCT 0.622 NA 8 65 0 0 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6085734 6085734 + Missense_Mutation SNP T T A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:6085734T>A uc003spp.2 - 6 744 c.598A>T c.(598-600)ATT>TTT p.I200F EIF2AK1_uc003spq.2_Missense_Mutation_p.I200F|EIF2AK1_uc011jwm.1_Missense_Mutation_p.I76F|EIF2AK1_uc003spr.1_5'UTR NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 200 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) GCACCCTTAATCAGGATTTTT 0.254 NA 5 21 0 0 0 0 TMEM195 392636 broad.mit.edu 37 7 15240926 15240926 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:15240926G>C uc003stb.1 - 13 1492 c.1322C>G c.(1321-1323)TCT>TGT p.S441C NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 441 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 CCAAGGGTGAGAGGTGAGTTG 0.308 NA 8 47 0 0 0 0 CACNA2D1 781 broad.mit.edu 37 7 81714097 81714097 + Nonsense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:81714097G>A uc003uhr.1 - 7 902 c.646C>T c.(646-648)CGA>TGA p.R216* NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 216 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GGATAATATCGAGCTAGGCCA 0.423 NA 13 45 0 0 0 0 TMEM130 222865 broad.mit.edu 37 7 98446224 98446224 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:98446224C>T uc003upo.2 - 7 1290 c.1101G>A c.(1099-1101)CAG>CAA p.Q367Q TMEM130_uc011kiq.1_Silent_p.Q348Q|TMEM130_uc011kir.1_Silent_p.Q367Q|TMEM130_uc003upn.2_Silent_p.Q265Q NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN transmembrane protein 130 isoform a 367 Cytoplasmic (Potential). Golgi membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGTCCTTTTGCTGAGTGGCAT 0.557 NA 13 67 0 0 0 0 PTCD1 26024 broad.mit.edu 37 7 99027337 99027337 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:99027337C>G uc003uqh.2 - 4 818 c.687G>C c.(685-687)CAG>CAC p.Q229H PTCD1_uc011kiw.1_Missense_Mutation_p.Q278H NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 229 PPR 3. ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCAGGGCGCTCTGTAGAGCTG 0.597 NA 4 63 0 0 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99654858 99654858 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:99654858G>A uc003uso.2 + 2 373 c.229G>A c.(229-231)GAG>AAG p.E77K ZSCAN21_uc011kje.1_Missense_Mutation_p.E76K|ZSCAN21_uc003usn.1_Missense_Mutation_p.E76K NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 77 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein 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) GCTGAGGCCCGAGATCCACAC 0.637 NA 5 40 0 0 0 0 EPO 2056 broad.mit.edu 37 7 100320365 100320365 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:100320365G>C uc003uwi.2 + 4 506 c.325G>C c.(325-327)GTC>CTC p.V109L EPO_uc011kkc.1_Missense_Mutation_p.V109L NM_000799 NP_000790 P01588 EPO_HUMAN erythropoietin precursor 109 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GGCCCTGTTGGTCAACTCTTC 0.657 NA 3 61 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101838850 101838850 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:101838850G>A uc003uyx.3 + 14 1227 c.1189G>A c.(1189-1191)GCC>ACC p.A397T CUX1_uc003uys.3_Missense_Mutation_p.A408T|CUX1_uc003uyt.2_Missense_Mutation_p.A408T|CUX1_uc011kkn.1_Missense_Mutation_p.A369T|CUX1_uc003uyw.2_Missense_Mutation_p.A362T|CUX1_uc003uyv.2_Missense_Mutation_p.A392T|CUX1_uc003uyu.2_Missense_Mutation_p.A406T NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 397 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GTCCGAGAACGCCGCGCTGCG 0.682 NA 6 33 0 0 0 0 FEZF1 389549 broad.mit.edu 37 7 121942917 121942917 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:121942917G>A uc003vkd.2 - 3 1079 c.1005C>T c.(1003-1005)ACC>ACT p.T335T FEZF1_uc003vkc.2_Silent_p.T285T|uc010lko.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 335 C2H2-type 3. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 CGTGTATTCGGGTATGAGTGT 0.408 NA 26 62 0 0 0 0 ZNF786 136051 broad.mit.edu 37 7 148777738 148777738 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:148777738C>G uc003wfh.2 - 2 227 c.90G>C c.(88-90)CAG>CAC p.Q30H ZNF786_uc011kuk.1_5'UTR|ZNF786_uc003wfi.2_Intron NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) AAAGTTCCTTCTGCCATGCCT 0.428 NA 3 55 0 0 0 0 AMAC1L2 83650 broad.mit.edu 37 8 11188846 11188846 + Silent SNP C C T rs148317481 TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr8:11188846C>T uc003wtp.1 + 1 352 c.231C>T c.(229-231)TGC>TGT p.C77C NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 77 DUF6 1.|Helical; (Potential). integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) TCTGTCGATGCCTCTTCCACC 0.627 NA 29 246 0 0 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38148029 38148029 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr8:38148029C>T uc003xli.2 - 17 3600 c.3082G>A c.(3082-3084)GAA>AAA p.E1028K WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1028K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E979K NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 1028 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GTCTGCCCTTCAGCAAAGCTT 0.443 NA T NUP98 AML 8 171 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618162 77618162 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr8:77618162C>T uc003yav.2 + 2 2226 c.1839C>T c.(1837-1839)ATC>ATT p.I613I ZFHX4_uc003yat.1_Silent_p.I613I|ZFHX4_uc003yau.1_Silent_p.I613I|ZFHX4_uc003yaw.1_Silent_p.I613I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 613 C2H2-type 1. 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) GCAGTGGCATCGAGTGTCCAA 0.557 NA HNSCC(33;0.089) 6 80 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95547110 95547110 + Silent SNP T T G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr8:95547110T>G uc003ygo.1 - 5 454 c.441A>C c.(439-441)CCA>CCC p.P147P KIAA1429_uc003ygp.2_Silent_p.P147P NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 147 Pro-rich. mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GCTGGGGAggtggtggcggtg 0.323 NA 5 31 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100832288 100832288 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr8:100832288G>C uc003yiv.2 + 49 9118 c.9007G>C c.(9007-9009)GAA>CAA p.E3003Q VPS13B_uc003yiw.2_Missense_Mutation_p.E2978Q NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3003 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTGGCTATTTGAAGGAGAGAA 0.378 NA 4 105 0 0 0 0 RNF139 11236 broad.mit.edu 37 8 125498991 125498991 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr8:125498991C>T uc003yrc.2 + 2 1444 c.1101C>T c.(1099-1101)ATC>ATT p.I367I NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 367 Helical; (Potential). 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) TGCATTTTATCCATGGAATGA 0.423 NA Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 19 202 0 0 0 0 BAI1 575 broad.mit.edu 37 8 143569790 143569790 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr8:143569790C>T uc003ywm.2 + 13 2557 c.2374C>T c.(2374-2376)CGG>TGG p.R792W NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 792 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GAAGGGCTGGCGGGCCACGGG 0.632 NA 5 119 0 0 0 0 TESK1 7016 broad.mit.edu 37 9 35609464 35609464 + Silent SNP C C A rs142237307 byFrequency TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr9:35609464C>A uc003zxa.2 + 10 1942 c.1606C>A c.(1606-1608)CGG>AGG p.R536R TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.R376R NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 536 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCCCTGGAACCGGGCCCAGCA 0.687 NA 18 28 1.68e-08 1.97e-08 1 0 TRPM3 80036 broad.mit.edu 37 9 73164531 73164531 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr9:73164531C>G uc004aid.2 - 24 3842 c.3598G>C c.(3598-3600)GAA>CAA p.E1200Q TRPM3_uc004ahu.2_Missense_Mutation_p.E1042Q|TRPM3_uc004ahv.2_Missense_Mutation_p.E1002Q|TRPM3_uc004ahw.2_Missense_Mutation_p.E1072Q|TRPM3_uc004ahx.2_Missense_Mutation_p.E1059Q|TRPM3_uc004ahy.2_Missense_Mutation_p.E1062Q|TRPM3_uc004ahz.2_Missense_Mutation_p.E1049Q|TRPM3_uc004aia.2_Missense_Mutation_p.E1047Q|TRPM3_uc004aib.2_Missense_Mutation_p.E1037Q|TRPM3_uc004aic.2_Missense_Mutation_p.E1200Q NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1225 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 AAGTATTCTTCTATGCATTGC 0.413 NA 3 71 0 0 0 0 SURF1 6834 broad.mit.edu 37 9 136220669 136220669 + Silent SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr9:136220669G>A uc004cdh.1 - 5 482 c.450C>T c.(448-450)GGC>GGT p.G150G SURF1_uc004cdg.1_Silent_p.G41G|SURF2_uc004cdi.2_5'Flank NM_003172 NP_003163 Q15526 SURF1_HUMAN surfeit 1 150 aerobic respiration|respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity breast(2) 2 OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05) AGGAGATGAGGCCGCCCTCCC 0.617 NA 8 176 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139399790 139399790 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr9:139399790C>G uc004chz.2 - 25 4558 c.4558G>C c.(4558-4560)GAC>CAC p.D1520H NOTCH1_uc004cia.1_Missense_Mutation_p.D750H NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1520 Extracellular (Potential).|LNR 2. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGCTGGCAGTCAAAGCCGTCG 0.627 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 2 6 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412284 139412284 + Missense_Mutation SNP T T G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr9:139412284T>G uc004chz.2 - 8 1361 c.1361A>C c.(1360-1362)AAC>ACC p.N454T NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 454 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GACGCACTCGTTGACGTCGAT 0.657 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 11 84 0 0 0 0 CACNA1B 774 broad.mit.edu 37 9 140991032 140991032 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr9:140991032C>T uc004cog.2 + 36 5336 c.5191C>T c.(5191-5193)CGG>TGG p.R1731W CACNA1B_uc004coi.2_Missense_Mutation_p.R943W|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1731 EF-hand.|Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGAGTTCATCCGGGTCTGGGC 0.562 NA 37 47 0 0 0 0 RBBP7 5931 broad.mit.edu 37 X 16863980 16863980 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:16863980C>G uc004cxt.2 - 11 1538 c.1180G>C c.(1180-1182)GAG>CAG p.E394Q RBBP7_uc004cxs.1_Missense_Mutation_p.E438Q|RBBP7_uc004cxu.2_Missense_Mutation_p.E385Q NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 394 WD 7. cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) ATGTTATCCTCAGACACTGAG 0.353 NA 4 45 0 0 0 0 RAI2 10742 broad.mit.edu 37 X 17819471 17819471 + Silent SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:17819471G>T uc004cyf.2 - 3 1230 c.660C>A c.(658-660)CCC>CCA p.P220P RAI2_uc004cyg.2_Silent_p.P220P|RAI2_uc010nfa.2_Silent_p.P220P|RAI2_uc004cyh.3_Silent_p.P220P|RAI2_uc011miy.1_Silent_p.P170P NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 220 Pro-rich. embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) GGGGGGACAAGGGGGAGCTAA 0.632 NA 24 35 6.45e-10 7.57e-10 1 0 FAM47B 170062 broad.mit.edu 37 X 34961653 34961653 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:34961653C>T uc004ddi.1 + 1 723 c.705C>T c.(703-705)CTC>CTT p.L235L NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 235 Pro-rich. ovary(3)|breast(1) 4 TGTCCAGTCTCCACCCGGAAC 0.637 NA 6 105 0 0 0 0 OGT 8473 broad.mit.edu 37 X 70787880 70787880 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:70787880C>T uc004eaa.1 + 21 3097 c.2880C>T c.(2878-2880)CTC>CTT p.L960L BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.L950L|OGT_uc004eac.2_Silent_p.L821L|OGT_uc004ead.2_Silent_p.L579L NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 960 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) CATCCCAGCTCACTTGCTTAG 0.383 NA 16 110 0 0 0 0 HDX 139324 broad.mit.edu 37 X 83723803 83723803 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:83723803C>T uc004eek.1 - 3 1037 c.928G>A c.(928-930)GAG>AAG p.E310K HDX_uc011mqv.1_Missense_Mutation_p.E310K|HDX_uc004eel.1_Missense_Mutation_p.E252K NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 310 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 AGCTCTTCCTCTCTGGCATAT 0.473 NA 16 80 0 0 0 0 GLA 2717 broad.mit.edu 37 X 100662806 100662806 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:100662806G>A uc004ehl.1 - 1 196 c.86C>T c.(85-87)GCT>GTT p.A29V HNRNPH2_uc004ehm.2_5'Flank|HNRNPH2_uc004ehn.2_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.A29V NM_000169 NP_000160 P06280 AGAL_HUMAN alpha-galactosidase A precursor 29 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding 0 Agalsidase beta(DB00103) CAGTGCTCTAGCCCCAGGGAT 0.602 NA 5 137 0 0 0 0 CUL4B 8450 broad.mit.edu 37 X 119660660 119660660 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:119660660C>T uc004esw.2 - 22 3135 c.2698G>A c.(2698-2700)GAA>AAA p.E900K CUL4B_uc010nqq.2_Missense_Mutation_p.E601K|CUL4B_uc004esv.2_Missense_Mutation_p.E882K NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 900 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 TTATCTCTTTCCATGTAGTCC 0.373 NA 26 56 0 0 0 0 CT47B1 643311 broad.mit.edu 37 X 120007815 120007815 + Nonsense_Mutation SNP C C A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:120007815C>A uc011muc.1 - 2 1090 c.835G>T c.(835-837)GAA>TAA p.E279* NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 279 Potential. 0 TCTTTCTCTTCCTCGCCTGCA 0.458 NA 150 486 4.69e-74 5.57e-74 1 0 THOC2 57187 broad.mit.edu 37 X 122820424 122820424 + Missense_Mutation SNP G G C TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:122820424G>C uc004etu.2 - 8 774 c.742C>G c.(742-744)CTT>GTT p.L248V THOC2_uc011muh.1_Missense_Mutation_p.L169V|THOC2_uc011mui.1_Missense_Mutation_p.L133V NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 248 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TTGAACCCAAGAATATGACAC 0.299 NA 6 49 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135429169 135429169 + Missense_Mutation SNP G G T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:135429169G>T uc004ezu.1 + 6 3595 c.3304G>T c.(3304-3306)GCA>TCA p.A1102S GPR112_uc010nsb.1_Missense_Mutation_p.A897S|GPR112_uc010nsc.1_Missense_Mutation_p.A869S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1102 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GACATCCATGGCAGTTCCTTC 0.478 NA 11 212 1.34e-11 1.58e-11 1 0 SOX3 6658 broad.mit.edu 37 X 139586097 139586097 + Missense_Mutation SNP C C G TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:139586097C>G uc004fbd.1 - 1 1129 c.1129G>C c.(1129-1131)GAG>CAG p.E377Q NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 377 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) GAGCTGGGCTCAGACTTCACT 0.473 NA 4 16 0 0 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870209 151870209 + Missense_Mutation SNP C C A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:151870209C>A uc004ffq.1 + 3 1093 c.899C>A c.(898-900)TCC>TAC p.S300Y MAGEA6_uc004ffr.1_Missense_Mutation_p.S300Y|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 300 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) CCTCGCATTTCCTACCCACTC 0.562 NA 7 227 5.18e-06 5.99e-06 1 0 ATP2B3 492 broad.mit.edu 37 X 152821580 152821580 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chrX:152821580C>T uc004fht.1 + 12 2258 c.2132C>T c.(2131-2133)ACG>ATG p.T711M ATP2B3_uc004fhs.1_Missense_Mutation_p.T711M NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 711 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AACATCAACACGGCCCGGGCC 0.592 NA 26 99 0 0 0 0 VPS13D 55187 broad.mit.edu 37 1 12569009 12569009 + Frame_Shift_Del DEL C C - TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr1:12569009delC uc001atv.2 + 70 13239 c.13098delC c.(13096-13098)AGCfs p.S4366fs VPS13D_uc001atw.2_Frame_Shift_Del_p.S4341fs|VPS13D_uc001atx.2_Frame_Shift_Del_p.S3553fs|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Frame_Shift_Del_p.S364fs NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 4365 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACGCAAAGAGCCTCTACTATG 0.522 NA 15 162 --- --- --- --- NA NA NA NA MGA 23269 broad.mit.edu 37 15 42059359 42059359 + Frame_Shift_Del DEL A A - TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr15:42059359delA uc010ucy.1 + 24 9260 c.9079delA c.(9079-9081)AAAfs p.K3027fs MGA_uc010ucz.1_Frame_Shift_Del_p.K2818fs NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2988 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) AGTTGGACACAAAATGAACTT 0.493 NA 28 92 --- --- --- --- NA NA NA NA ARVCF 421 broad.mit.edu 37 22 19958829 19958829 + Frame_Shift_Del DEL G G - rs5993890 byFrequency TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr22:19958829delG uc002zqz.2 - 19 3082 c.2811delC c.(2809-2811)CCCfs p.P937fs ARVCF_uc002zqy.2_Intron NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 937 cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) TGCTGGGCCCGGGGGGAGGGG 0.657 NA OREG0026306 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187539957 187539959 + In_Frame_Del DEL GTG GTG - TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr4:187539957_187539959delGTG uc003izf.2 - 10 7969_7971 c.7781_7783delCAC c.(7780-7785)CCACAA>CAA p.P2594del NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2594 Extracellular (Potential).|Cadherin 23. 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 GCTCGAAATTGTGGTGCATTGTC 0.453 NA HNSCC(5;0.00058) 8 40 --- --- --- --- NA NA NA NA FAT2 2196 broad.mit.edu 37 5 150924152 150924153 + Frame_Shift_Ins INS - - T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr5:150924152_150924153insT uc003lue.3 - 9 6548_6549 c.6535_6536insA c.(6535-6537)AGAfs p.R2179fs GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2179 Cadherin 19.|Extracellular (Potential). 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) TTCAGGTACTCTGACTTTGTAA 0.5 NA 18 155 --- --- --- --- NA NA NA NA SYNE1 23345 broad.mit.edu 37 6 152841678 152841678 + Splice_Site DEL C C - TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr6:152841678delC uc010kiw.2 - 6 828 c.226_splice c.e6-1 p.P76_splice SYNE1_uc003qot.3_Splice_Site_p.P76_splice|SYNE1_uc003qou.3_Splice_Site_p.P76_splice|SYNE1_uc010kjb.1_Splice_Site_p.P76_splice|SYNE1_uc003qpa.1_Splice_Site_p.P76_splice NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTTCACAAGGCTGTAAAAAGT 0.368 NA HNSCC(10;0.0054) 7 115 --- --- --- --- NA NA NA NA LRRC17 10234 broad.mit.edu 37 7 102584992 102584993 + Frame_Shift_Ins INS - - A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:102584992_102584993insA uc003vau.2 + 4 1653_1654 c.1264_1265insA c.(1264-1266)GAAfs p.E422fs FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 422 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 TGATGAATGGGAAAAAAAACAT 0.337 NA 14 31 --- --- --- --- NA NA NA NA TAS2R41 259287 broad.mit.edu 37 7 143175518 143175518 + Frame_Shift_Del DEL A A - TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr7:143175518delA uc003wdc.1 + 1 553 c.553delA c.(553-555)AAAfs p.K185fs uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 185 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) CCCATCCCTGAAACTGGTCAT 0.368 NA 11 74 --- --- --- --- NA NA NA NA NOTCH1 4851 broad.mit.edu 37 9 139418203 139418204 + Frame_Shift_Ins INS - - T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36 483fb0b9-330d-47a6-b13b-b7611f022788 g.chr9:139418203_139418204insT uc004chz.2 - 3 368_369 c.368_369insA c.(367-369)ACGfs p.T123fs NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 123 Extracellular (Potential).|EGF-like 3. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACTTGTACTCCGTCAGCGTGAG 0.708 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 8 28 --- --- --- --- NA NA NA NA