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 HSPG2 3339 broad.mit.edu 37 1 22173889 22173889 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:22173889A>G uc001bfj.2 - 62 8162 c.8122T>C c.(8122-8124)TCC>CCC p.S2708P HSPG2_uc009vqd.2_Missense_Mutation_p.S2709P NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2708 Ig-like C2-type 12. 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) ATGACGATGGAGGCCTCCAGG 0.627 NA 3 99 0 0 0 0 SYTL1 84958 broad.mit.edu 37 1 27676942 27676942 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:27676942G>A uc001bnw.1 + 10 1138 c.971G>A c.(970-972)CGG>CAG p.R324Q SYTL1_uc001bnv.1_Missense_Mutation_p.R312Q|SYTL1_uc009vsu.1_Missense_Mutation_p.R312Q|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Missense_Mutation_p.R324Q NM_032872 NP_116261 Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 324 C2 1. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding ovary(1) 1 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTGAAGAAACGGAATCTGAAT 0.602 NA 42 56 0 0 0 0 PTPRU 10076 broad.mit.edu 37 1 29650167 29650167 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:29650167C>T uc001bru.2 + 29 4119 c.4009C>T c.(4009-4011)CGG>TGG p.R1337W PTPRU_uc001brv.2_Missense_Mutation_p.R1333W|PTPRU_uc001brw.2_Missense_Mutation_p.R1327W|PTPRU_uc009vtq.2_Missense_Mutation_p.R1331W|PTPRU_uc009vtr.2_Missense_Mutation_p.R1324W|PTPRU_uc001brx.2_Missense_Mutation_p.R63W NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1337 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCTGCTGGTGCGGCACTTCCA 0.642 NA 31 26 0 0 0 0 PTPRF 5792 broad.mit.edu 37 1 44085815 44085815 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:44085815G>A uc001cjr.2 + 30 5501 c.5161G>A c.(5161-5163)GAG>AAG p.E1721K PTPRF_uc001cjs.2_Missense_Mutation_p.E1712K|PTPRF_uc001cju.2_Missense_Mutation_p.E1110K|PTPRF_uc009vwt.2_Missense_Mutation_p.E1281K|PTPRF_uc001cjv.2_Missense_Mutation_p.E1192K|PTPRF_uc001cjw.2_Missense_Mutation_p.E947K NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1721 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.E1711Q(1) ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGAGAGCACCGAGGACTTCTG 0.592 NA 70 60 0 0 0 0 DDX20 11218 broad.mit.edu 37 1 112303130 112303130 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:112303130G>A uc001ebs.2 + 4 957 c.600G>A c.(598-600)TTG>TTA p.L200L DDX20_uc010owf.1_5'UTR|DDX20_uc001ebt.2_5'UTR NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 200 Helicase ATP-binding. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGACTACTTGAACCCAGGCA 0.308 NA 56 64 0 0 0 0 MAGI3 260425 broad.mit.edu 37 1 114215339 114215339 + Silent SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:114215339A>G uc001edk.2 + 18 3202 c.3021A>G c.(3019-3021)TCA>TCG p.S1007S MAGI3_uc001edh.3_Silent_p.S1032S|MAGI3_uc001edi.3_Silent_p.S1007S|MAGI3_uc010owm.1_Silent_p.S1032S|MAGI3_uc001edj.2_Silent_p.S728S NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1032 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGTAATTTCAGTTGTAGGCA 0.448 NA 4 261 0 0 0 0 PEX11B 8799 broad.mit.edu 37 1 145522726 145522726 + Missense_Mutation SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:145522726T>G uc001eny.1 + 4 605 c.587T>G c.(586-588)CTC>CGC p.L196R NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Missense_Mutation_p.L182R|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank NM_003846 NP_003837 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 196 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAAGTCCTGCTCCTGGCTCGA 0.582 NA 3 92 0 0 0 0 RPRD2 23248 broad.mit.edu 37 1 150445676 150445676 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:150445676C>T uc009wlr.2 + 11 4453 c.4252C>T c.(4252-4254)CGG>TGG p.R1418W RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1392W NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 1418 Pro-rich. protein binding ovary(1) 1 ACGGAGTCCCCGGCCAGACTT 0.582 NA 76 47 0 0 0 0 ATP1A4 480 broad.mit.edu 37 1 160141474 160141474 + Missense_Mutation SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:160141474T>C uc001fve.3 + 12 2260 c.1781T>C c.(1780-1782)CTC>CCC p.L594P ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.L97P NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 594 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTGTGGGCCTCATATCCATG 0.488 NA 3 192 0 0 0 0 SELP 6403 broad.mit.edu 37 1 169580906 169580906 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:169580906C>T uc001ggi.3 - 7 1036 c.971G>A c.(970-972)TGT>TAT p.C324Y SELP_uc001ggh.2_Missense_Mutation_p.C159Y|SELP_uc009wvr.2_Missense_Mutation_p.C324Y NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 324 Sushi 3.|Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGGTGCTGACACTGCACAGC 0.507 NA 54 61 0 0 0 0 METTL13 51603 broad.mit.edu 37 1 171753042 171753042 + Missense_Mutation SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:171753042A>C uc001ghz.2 + 2 663 c.316A>C c.(316-318)ACG>CCG p.T106P METTL13_uc001gia.2_Missense_Mutation_p.T20P|METTL13_uc001gib.2_Missense_Mutation_p.T106P|METTL13_uc010pml.1_Missense_Mutation_p.T105P NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 106 methyltransferase activity|protein binding kidney(1) 1 GATGGACATGACGCAGATGGA 0.502 NA 42 32 0 0 0 0 PRG4 10216 broad.mit.edu 37 1 186277190 186277190 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:186277190G>A uc001gru.3 + 7 2390 c.2339G>A c.(2338-2340)GGG>GAG p.G780E PRG4_uc001grt.3_Missense_Mutation_p.G739E|PRG4_uc009wyl.2_Missense_Mutation_p.G687E|PRG4_uc009wym.2_Missense_Mutation_p.G646E|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 780 51; approximate.|59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ACCCCTAAGGGGACTGCTCCA 0.607 NA 5 231 0 0 0 0 SPATA17 128153 broad.mit.edu 37 1 217856693 217856693 + Missense_Mutation SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:217856693G>T uc001hlh.1 + 5 411 c.385G>T c.(385-387)GAT>TAT p.D129Y SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.D129Y NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 129 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AGAGACCAATGATGCAATTAG 0.343 NA 61 60 4.09e-25 9.2e-25 1 0 VN1R5 317705 broad.mit.edu 37 1 247420369 247420369 + Missense_Mutation SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:247420369A>C uc010pyu.1 + 2 996 c.996A>C c.(994-996)CAA>CAC p.Q332H NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 332 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) AGACTCTGCAAAtgttatggt 0.209 NA 4 37 0 0 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255111 15255111 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:15255111C>T uc001iob.2 - 8 2483 c.2476G>A c.(2476-2478)GGC>AGC p.G826S NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 826 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GGCAGCTGGCCACCACTTCTC 0.647 NA 14 68 0 0 0 0 RBP3 5949 broad.mit.edu 37 10 48388751 48388751 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:48388751C>T uc001jez.2 - 1 2241 c.2127G>A c.(2125-2127)GTG>GTA p.V709V NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 709 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CTTCCTCTACCACCAGCTCGC 0.627 NA 15 51 0 0 0 0 C10orf12 26148 broad.mit.edu 37 10 98743187 98743187 + Silent SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:98743187T>A uc001kmv.2 + 1 2147 c.2040T>A c.(2038-2040)GCT>GCA p.A680A NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 680 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGGAGGAGGCTGTGAATGAGG 0.498 NA 12 58 0 0 0 0 C10orf12 26148 broad.mit.edu 37 10 98744511 98744511 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:98744511C>T uc001kmv.2 + 1 3471 c.3364C>T c.(3364-3366)CCT>TCT p.P1122S NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 1122 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CACCAAAACCCCTGCTGCCAA 0.517 NA 10 62 0 0 0 0 MGEA5 10724 broad.mit.edu 37 10 103558656 103558656 + Nonsense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:103558656C>T uc001ktv.2 - 9 2195 c.1752G>A c.(1750-1752)TGG>TGA p.W584* MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Nonsense_Mutation_p.W531*|MGEA5_uc009xws.2_Nonsense_Mutation_p.W531*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.W584*|MGEA5_uc009xwt.2_Nonsense_Mutation_p.W347* NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 584 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TTGCTCGAAGCCATTGAAATT 0.443 NA 11 91 0 0 0 0 C10orf78 119392 broad.mit.edu 37 10 105882813 105882813 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:105882813C>T uc001kxu.2 + 2 117 c.104C>T c.(103-105)TCA>TTA p.S35L C10orf78_uc001kxs.2_Missense_Mutation_p.S22L|C10orf78_uc001kxt.2_5'UTR|C10orf78_uc001kxv.2_Missense_Mutation_p.S97L NM_001002759 NP_001002759 Q86XK3 SFR1_HUMAN hypothetical protein LOC119392 isoform a 35 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014) GCGAATCCATCATCTCCCTAT 0.398 NA 13 105 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108389086 108389086 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:108389086C>T uc001kym.2 - 19 2544 c.2536G>A c.(2536-2538)GTC>ATC p.V846I SORCS1_uc001kyl.2_Missense_Mutation_p.V846I|SORCS1_uc009xxs.2_Missense_Mutation_p.V846I|SORCS1_uc001kyn.1_Missense_Mutation_p.V846I|SORCS1_uc001kyo.2_Missense_Mutation_p.V846I NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 846 Lumenal (Potential).|PKD. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTGAGATTGACGTAAGACACC 0.488 NA 8 41 0 0 0 0 FAM160B1 57700 broad.mit.edu 37 10 116593011 116593011 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:116593011C>T uc001lcb.2 + 3 479 c.144C>T c.(142-144)ACC>ACT p.T48T FAM160B1_uc001lcc.2_Silent_p.T48T NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 48 lung(1) 1 CCCCAGTGACCGATACAAATA 0.338 NA 5 45 0 0 0 0 MKI67 4288 broad.mit.edu 37 10 129913712 129913712 + Silent SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:129913712T>C uc001lke.2 - 7 1155 c.960A>G c.(958-960)GGA>GGG p.G320G MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 320 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCACGTCTCTTCCCTTCCCCT 0.547 NA 18 79 0 0 0 0 OR52D1 390066 broad.mit.edu 37 11 5509984 5509984 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:5509984C>T uc010qzg.1 + 1 48 c.48C>T c.(46-48)TTC>TTT p.F16F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACACCTTCTTCTTAACAGGGA 0.488 NA 18 67 0 0 0 0 HPX 3263 broad.mit.edu 37 11 6452483 6452483 + Silent SNP C C T rs143855789 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:6452483C>T uc001mdg.2 - 10 1408 c.1347G>A c.(1345-1347)CCG>CCA p.P449P HPX_uc001mdf.2_Silent_p.P195P|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 449 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) TCTGGGGTTGCGGAAGGGCCT 0.542 NA 6 69 0 0 0 0 PRMT3 10196 broad.mit.edu 37 11 20409618 20409618 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:20409618G>A uc001mqb.2 + 2 299 c.82G>A c.(82-84)GGG>AGG p.G28R PRMT3_uc001mqc.2_Intron|PRMT3_uc010rdn.1_Intron NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 28 zinc ion binding 0 GTCGGACAGCGGGGACGAGGC 0.647 NA 5 39 0 0 0 0 MADD 8567 broad.mit.edu 37 11 47298327 47298327 + Silent SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:47298327G>C uc001ner.1 + 5 1199 c.1008G>C c.(1006-1008)GTG>GTC p.V336V MADD_uc001neq.2_Silent_p.V336V|MADD_uc001nev.1_Silent_p.V336V|MADD_uc001nes.1_Silent_p.V336V|MADD_uc001net.1_Silent_p.V336V|MADD_uc009yln.1_Silent_p.V336V|MADD_uc001neu.1_Silent_p.V336V|MADD_uc001nex.2_Silent_p.V336V|MADD_uc001nez.2_Silent_p.V336V|MADD_uc001new.2_Silent_p.V336V NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 336 Helical; (Potential).|DENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CCATGTCTGTGATGGCATTCG 0.483 NA 12 87 0 0 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798090 55798090 + Missense_Mutation SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:55798090T>G uc010riw.1 + 1 196 c.196T>G c.(196-198)TTA>GTA p.L66V NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TCTTAGCAACTTATCTTTCTT 0.348 NA 6 43 0 0 0 0 SLC43A3 29015 broad.mit.edu 37 11 57175311 57175311 + Missense_Mutation SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:57175311T>G uc001nkg.2 - 14 1840 c.1430A>C c.(1429-1431)TAT>TCT p.Y477S PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Missense_Mutation_p.Y477S|SLC43A3_uc010rjr.1_Missense_Mutation_p.Y490S|SLC43A3_uc009yme.2_Missense_Mutation_p.Y477S|SLC43A3_uc001nki.2_Missense_Mutation_p.Y477S NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 477 transmembrane transport integral to membrane central_nervous_system(1) 1 GCATTCCCGATATACCAGAAA 0.473 NA 3 69 0 0 0 0 MS4A2 2206 broad.mit.edu 37 11 59863040 59863040 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:59863040G>A uc001nop.2 + 7 748 c.646G>A c.(646-648)GAT>AAT p.D216N NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 216 Cytoplasmic (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) GGTTCCAGAGGATCGTGTTTA 0.388 NA 6 31 0 0 0 0 EXPH5 23086 broad.mit.edu 37 11 108380962 108380962 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:108380962G>A uc001pkk.2 - 6 5383 c.5272C>T c.(5272-5274)CTG>TTG p.L1758L EXPH5_uc010rvy.1_Silent_p.L1570L|EXPH5_uc010rvz.1_Silent_p.L1602L|EXPH5_uc010rwa.1_Silent_p.L1682L NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1758 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GCAGGCTCCAGTGGAAAAGGA 0.512 NA 15 77 0 0 0 0 PRH2 5555 broad.mit.edu 37 12 11082884 11082884 + Silent SNP C C T rs1130408 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:11082884C>T uc009zhr.2 + 2 119 c.81C>T c.(79-81)GAC>GAT p.D27D PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Silent_p.D27D|PRH2_uc001qzi.3_Silent_p.D27D NM_001110213 NP_001103683 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 2 27 Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium. extracellular space protein binding 0 GCCAAGAAGACGTTCCCTTGG 0.388 NA 13 76 0 0 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27841969 27841969 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:27841969G>A uc001ric.1 + 26 2913 c.2536G>A c.(2536-2538)GTA>ATA p.V846I PPFIBP1_uc010sjr.1_Missense_Mutation_p.V677I|PPFIBP1_uc001rib.1_Missense_Mutation_p.V840I|PPFIBP1_uc001ria.2_Missense_Mutation_p.V815I|PPFIBP1_uc001rid.1_Missense_Mutation_p.V693I|PPFIBP1_uc001rif.1_Missense_Mutation_p.V353I NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 846 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) TCGTTTTAACGTAGAAACAAT 0.338 NA 15 72 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49447796 49447796 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:49447796A>G uc001rta.3 - 5 638 c.638T>C c.(637-639)CTA>CCA p.L213P NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 213 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTCTGGGCATAGCAGCTGCAG 0.532 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 18 69 0 0 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54110137 54110137 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:54110137C>T uc001sef.2 - 8 1056 c.912G>A c.(910-912)AAG>AAA p.K304K CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Intron|CALCOCO1_uc010son.1_Silent_p.K181K|CALCOCO1_uc001seh.2_Silent_p.K304K|CALCOCO1_uc009znd.2_Silent_p.K304K|CALCOCO1_uc001seg.2_Intron|CALCOCO1_uc010soo.1_Silent_p.K297K NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 304 Potential. steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CTTGCCAGCTCTTCGCCTCCT 0.562 NA 26 68 0 0 0 0 DTX3 196403 broad.mit.edu 37 12 58000719 58000719 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:58000719G>A uc001sow.1 + 5 410 c.73G>A c.(73-75)GTG>ATG p.V25M DTX3_uc001sov.1_Missense_Mutation_p.V18M|DTX3_uc001sox.1_Missense_Mutation_p.V18M|DTX3_uc001soy.1_Missense_Mutation_p.V18M NM_178502 NP_848597 Q8N9I9 DTX3_HUMAN deltex homolog 3 25 Notch signaling pathway cytoplasm zinc ion binding breast(1)|central_nervous_system(1) 2 Melanoma(17;0.122) GTCCAAGCCCGTGTGGGACTT 0.597 NA 99 227 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81675072 81675072 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:81675072A>G uc001szo.1 - 27 3337 c.3176T>C c.(3175-3177)CTC>CCC p.L1059P PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 958 ovary(3)|lung(2)|pancreas(1) 6 ATGGACACGGAGATCTTTTTT 0.343 NA 4 26 0 0 0 0 KERA 11081 broad.mit.edu 37 12 91449289 91449289 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:91449289C>T uc001tbl.2 - 2 1389 c.770G>A c.(769-771)AGA>AAA p.R257K NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 257 LRR 8. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 ATCAAATCCTCTTGATGGGAG 0.398 NA 19 63 0 0 0 0 NAA25 80018 broad.mit.edu 37 12 112506764 112506764 + Nonsense_Mutation SNP T T A rs149344901 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:112506764T>A uc001ttm.2 - 11 1089 c.1069A>T c.(1069-1071)AAA>TAA p.K357* NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.K329*|NAA25_uc009zwa.1_Nonsense_Mutation_p.K357* NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 357 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 CCAAACTTTTTAAAATACTGG 0.353 NA 13 51 0 0 0 0 MED13L 23389 broad.mit.edu 37 12 116434432 116434432 + Missense_Mutation SNP T T C rs35760315 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:116434432T>C uc001tvw.2 - 16 2900 c.2845A>G c.(2845-2847)ATG>GTG p.M949V NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 949 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGAGCAAACATGGAGGATCCC 0.438 NA 10 41 0 0 0 0 KSR2 283455 broad.mit.edu 37 12 118406030 118406030 + Splice_Site SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:118406030C>A uc001two.2 - 1 1 c.-54_splice c.e1-1 NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCTGCTGCTCCTCGCTTTTC 0.522 NA 7 110 0.00198382 0.00397789 1 0 NCOR2 9612 broad.mit.edu 37 12 124862849 124862849 + Nonsense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:124862849C>A uc010tba.1 - 18 2218 c.2101G>T c.(2101-2103)GAG>TAG p.E701* NCOR2_uc010tay.1_Nonsense_Mutation_p.E701*|NCOR2_uc010taz.1_Nonsense_Mutation_p.E701*|NCOR2_uc010tbb.1_Nonsense_Mutation_p.E701*|NCOR2_uc010tbc.1_Nonsense_Mutation_p.E700*|NCOR2_uc001ugj.1_Nonsense_Mutation_p.E701* NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 701 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TCCTCATCCTCCACCACGGGC 0.667 NA 14 53 4.38e-07 9.24e-07 1 0 ATP12A 479 broad.mit.edu 37 13 25275010 25275010 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr13:25275010C>T uc001upp.2 + 13 2018 c.1831C>T c.(1831-1833)CGG>TGG p.R611W ATP12A_uc010aaa.2_Missense_Mutation_p.R617W NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 611 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CGATCCCCCTCGGTCCACCGT 0.483 NA 10 48 0 0 0 0 RB1 5925 broad.mit.edu 37 13 49027134 49027134 + Silent SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr13:49027134A>T uc001vcb.2 + 18 1867 c.1701A>T c.(1699-1701)TCA>TCT p.S567S NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 567 Domain A.|Pocket; binds T and E1A. S -> L (in RB). androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6)|p.S567*(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATAGGATTCACCTTTATTTG 0.333 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 3 32 0 0 0 0 CLDN10 9071 broad.mit.edu 37 13 96212417 96212417 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr13:96212417C>G uc001vmh.2 + 2 313 c.252C>G c.(250-252)ATC>ATG p.I84M CLDN10_uc001vmg.2_Missense_Mutation_p.I82M|CLDN10_uc010tii.1_Missense_Mutation_p.I63M NM_006984 NP_008915 P78369 CLD10_HUMAN claudin 10 isoform b 84 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GACTTATGATCGCTGCTGTCA 0.433 NA 5 64 0 0 0 0 POTEG 404785 broad.mit.edu 37 14 19566010 19566010 + Splice_Site SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:19566010A>T uc001vuz.1 + 6 1108 c.1056_splice c.e6-2 p.V352_splice POTEG_uc001vva.1_Splice_Site|POTEG_uc010ahc.1_Splice_Site|uc001vvb.2_Intron NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G ovary(1) 1 TTTTATACATAGAATTTGCCA 0.259 NA 7 78 0 0 0 0 FOXG1 2290 broad.mit.edu 37 14 29237757 29237757 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:29237757G>A uc001wqe.2 + 1 1471 c.1272G>A c.(1270-1272)CCG>CCA p.P424P NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 424 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCCCGCACCCGTCAATGACTT 0.657 NA 15 47 0 0 0 0 PRKD1 5587 broad.mit.edu 37 14 30046528 30046528 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:30046528G>T uc001wqh.2 - 18 2836 c.2655C>A c.(2653-2655)ATC>ATA p.I885I NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 885 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CACTTGGATTGATCAGGTGTG 0.517 NA 36 104 1.36e-19 3.03e-19 1 0 HEATR5A 25938 broad.mit.edu 37 14 31762629 31762629 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:31762629C>T uc001wrf.3 - 30 5221 c.5144G>A c.(5143-5145)CGC>CAC p.R1715H HEATR5A_uc010ami.2_Missense_Mutation_p.R1538H NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 2002 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AGCCTCAAGGCGGGCTTTTAG 0.378 NA 50 145 0 0 0 0 RPL10L 140801 broad.mit.edu 37 14 47120482 47120482 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:47120482C>T uc001wwg.2 - 1 547 c.458G>A c.(457-459)CGC>CAC p.R153H NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 153 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CTTGGCCCTGCGCAAGGCTTC 0.517 NA 12 76 0 0 0 0 SOCS4 122809 broad.mit.edu 37 14 55509833 55509833 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:55509833A>G uc001xbo.2 + 3 639 c.74A>G c.(73-75)GAC>GGC p.D25G SOCS4_uc001xbp.2_Missense_Mutation_p.D25G NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 25 intracellular signal transduction|negative regulation of signal transduction|regulation of growth ovary(1)|kidney(1) 2 AGAAGTGCCGACAGAAAAGAC 0.363 NA 13 57 0 0 0 0 ZBTB1 22890 broad.mit.edu 37 14 64989074 64989074 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:64989074C>T uc001xhh.3 + 4 1283 c.852C>T c.(850-852)TAC>TAT p.Y284Y ZBTB1_uc010aqg.2_Silent_p.Y284Y|ZBTB1_uc001xhi.2_Silent_p.Y284Y NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CGGACAAATACAGAGGAGACA 0.398 NA 11 44 0 0 0 0 EIF2S1 1965 broad.mit.edu 37 14 67843302 67843302 + Silent SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:67843302A>C uc001xjg.2 + 4 609 c.468A>C c.(466-468)GCA>GCC p.A156A NM_004094 NP_004085 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, 156 cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity ovary(1) 1 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) TTAAGCATGCAGTCTCGTAAG 0.428 NA 20 71 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410852 105410852 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:105410852G>A uc010axc.1 - 7 11056 c.10936C>T c.(10936-10938)CCG>TCG p.P3646S AHNAK2_uc001ypx.2_Missense_Mutation_p.P3546S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3646 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) CTGAATGACGGCATCTTGAAT 0.592 NA 6 375 0 0 0 0 EPB42 2038 broad.mit.edu 37 15 43503700 43503700 + Missense_Mutation SNP G G A rs146473183 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:43503700G>A uc001zra.3 - 4 763 c.463C>T c.(463-465)CGC>TGC p.R155C EPB42_uc001zqz.3_5'Flank|EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Missense_Mutation_p.R185C|EPB42_uc010udm.1_Missense_Mutation_p.R77C NM_001114134 NP_001107606 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 isoform 2 155 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton ovary(2) 2 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TACTCCATGCGCTGAGCCTCA 0.582 NA 29 56 0 0 0 0 FBN1 2200 broad.mit.edu 37 15 48760184 48760184 + Silent SNP C C G rs143544916 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:48760184C>G uc001zwx.1 - 38 5026 c.4698G>C c.(4696-4698)CTG>CTC p.L1566L FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1566 TB 6. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGGCTTTACCCAGAGAACAGC 0.453 NA 17 63 0 0 0 0 SPPL2A 84888 broad.mit.edu 37 15 51031995 51031995 + Silent SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:51031995A>G uc001zyv.2 - 6 795 c.615T>C c.(613-615)GAT>GAC p.D205D NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN signal peptide peptidase-like 2A 205 integral to membrane aspartic-type endopeptidase activity 0 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) TCATTTCTCTATCTTCAGTTG 0.318 NA 14 54 0 0 0 0 BNC1 646 broad.mit.edu 37 15 83932492 83932492 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:83932492G>A uc002bjt.1 - 4 1599 c.1511C>T c.(1510-1512)ACG>ATG p.T504M BNC1_uc010uos.1_Missense_Mutation_p.T492M NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 504 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TATCCCAGGCGTGTTTGCTAC 0.512 NA 27 67 0 0 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84690198 84690198 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:84690198C>G uc002bjz.3 + 26 4534 c.4310C>G c.(4309-4311)TCT>TGT p.S1437C ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S1437C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.S1437C NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1437 TSP type-1 8. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TCACATTGTTCTGCCACCTGT 0.517 NA 14 212 0 0 0 0 BLM 641 broad.mit.edu 37 15 91346818 91346818 + Silent SNP C C T rs147148171 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:91346818C>T uc002bpr.2 + 18 3523 c.3426C>T c.(3424-3426)GCC>GCT p.A1142A BLM_uc010uqh.1_Silent_p.A1142A|BLM_uc010uqi.1_Silent_p.A767A|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Silent_p.A117A NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 1142 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GACACAATGCCGAAAGACTTT 0.373 NA Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 21 61 0 0 0 0 SV2B 9899 broad.mit.edu 37 15 91769696 91769696 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:91769696C>T uc002bqv.2 + 1 594 c.203C>T c.(202-204)CCC>CTC p.P68L SV2B_uc002bqt.2_Missense_Mutation_p.P68L|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 68 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) AAGATGGCGCCCTCCAGAATG 0.577 NA 18 44 0 0 0 0 BTBD12 84464 broad.mit.edu 37 16 3646278 3646278 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:3646278C>T uc002cvp.2 - 8 2427 c.1800G>A c.(1798-1800)CCG>CCA p.P600P NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 600 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 CCGAAGGCGACGGGCCCCTGG 0.731 NA Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 3 5 0 0 0 0 TMC7 79905 broad.mit.edu 37 16 19047109 19047109 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:19047109G>A uc002dfq.2 + 7 1099 c.969G>A c.(967-969)GCG>GCA p.A323A TMC7_uc010vao.1_Silent_p.A323A|TMC7_uc002dfp.2_Silent_p.A323A|TMC7_uc010vap.1_Silent_p.A213A NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 323 Cytoplasmic (Potential). integral to membrane skin(2)|ovary(1) 3 GCAGCATGGCGGATCTGAAGC 0.542 NA 24 51 0 0 0 0 ACSM5 54988 broad.mit.edu 37 16 20439133 20439133 + Silent SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:20439133C>A uc002dhe.2 + 7 1092 c.945C>A c.(943-945)ACC>ACA p.T315T NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 315 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TCCCGATAACCACCCTCTGCT 0.478 NA 58 152 6.13e-21 1.37e-20 1 0 ZNF423 23090 broad.mit.edu 37 16 49764836 49764836 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:49764836C>T uc002efs.2 - 4 421 c.123G>A c.(121-123)GCG>GCA p.A41A NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 41 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGTCTTCCAGCGCACGGCTGG 0.512 NA 39 248 0 0 0 0 HYDIN 54768 broad.mit.edu 37 16 71163606 71163606 + Missense_Mutation SNP C C G rs79679861 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:71163606C>G uc002ezr.2 - 9 1292 c.1164G>C c.(1162-1164)CAG>CAC p.Q388H HYDIN_uc010cfz.1_Missense_Mutation_p.Q133H|HYDIN_uc002ezv.2_Missense_Mutation_p.Q388H|HYDIN_uc010vmc.1_Missense_Mutation_p.Q405H|HYDIN_uc010vmd.1_Missense_Mutation_p.Q415H|HYDIN_uc002ezw.3_Missense_Mutation_p.Q405H NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 388 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CCAGCCTCCTCTGATTCGCAA 0.448 NA 5 40 0 0 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351652 89351652 + Missense_Mutation SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:89351652A>C uc002fmx.1 - 9 1759 c.1298T>G c.(1297-1299)ATA>AGA p.I433R ANKRD11_uc002fmy.1_Missense_Mutation_p.I433R|ANKRD11_uc002fnc.1_Missense_Mutation_p.I433R|ANKRD11_uc002fnb.1_Missense_Mutation_p.I390R NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 433 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ACCAGGCAATATCGTATGTGC 0.428 NA 6 89 0 0 0 0 ZMYND15 84225 broad.mit.edu 37 17 4647997 4647997 + Silent SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:4647997C>G uc002fyt.2 + 10 1683 c.1644C>G c.(1642-1644)GGC>GGG p.G548G ZMYND15_uc002fyv.2_Silent_p.G587G|ZMYND15_uc002fyu.2_Silent_p.G587G NM_032265 NP_115641 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 isoform 2 548 zinc ion binding 0 AGAAAGGGGGCCGCAGGGACC 0.622 NA 7 69 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578522 7578522 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:7578522T>A uc002gim.2 - 5 602 c.408A>T c.(406-408)CAA>CAT p.Q136H TP53_uc002gig.1_Missense_Mutation_p.Q136H|TP53_uc002gih.2_Missense_Mutation_p.Q136H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4H|TP53_uc010cng.1_Missense_Mutation_p.Q4H|TP53_uc002gii.1_Missense_Mutation_p.Q4H|TP53_uc010cnh.1_Missense_Mutation_p.Q136H|TP53_uc010cni.1_Missense_Mutation_p.Q136H|TP53_uc002gij.2_Missense_Mutation_p.Q136H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q43H|TP53_uc002gio.2_Missense_Mutation_p.Q4H|TP53_uc010vug.1_Missense_Mutation_p.Q97H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 136 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.Q136fs*13(2)|p.N131fs*27(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTTGGCCAGTTGGCAAAACA 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 44 0 0 0 0 C17orf68 80169 broad.mit.edu 37 17 8132760 8132760 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:8132760G>A uc002gkq.3 - 19 3075 c.3016C>T c.(3016-3018)CCC>TCC p.P1006S C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 1006 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 TGGGGCAGGGGAATGCTAAAT 0.527 NA 10 61 0 0 0 0 SYNRG 11276 broad.mit.edu 37 17 35880712 35880712 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:35880712G>A uc002hoa.2 - 20 3789 c.3706C>T c.(3706-3708)CGG>TGG p.R1236W SYNRG_uc010wde.1_Missense_Mutation_p.R1181W|SYNRG_uc010wdf.1_Missense_Mutation_p.R1158W|SYNRG_uc002hoc.2_Missense_Mutation_p.R1157W|SYNRG_uc002hoe.2_Missense_Mutation_p.R1158W|SYNRG_uc002hod.2_Missense_Mutation_p.R1113W|SYNRG_uc010wdg.1_Missense_Mutation_p.R1030W|SYNRG_uc002hob.2_Missense_Mutation_p.R1236W NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 1236 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 ATCCCAGGCCGTAACATACAG 0.517 NA 14 52 0 0 0 0 KRT14 3861 broad.mit.edu 37 17 39740574 39740574 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:39740574C>A uc002hxf.1 - 3 761 c.700G>T c.(700-702)GAC>TAC p.D234Y JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.D234Y NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 234 Coil 1B.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) ATCTCCAGGTCAGCTCTGGCC 0.522 NA 6 172 0.00307968 0.00615936 1 0 RUNDC1 146923 broad.mit.edu 37 17 41142894 41142894 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:41142894C>T uc002ici.1 + 5 1015 c.1003C>T c.(1003-1005)CGG>TGG p.R335W RUNDC1_uc010whi.1_Missense_Mutation_p.R105W NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 335 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GAAGAAAGTCCGGGAGACGGG 0.557 NA 23 77 0 0 0 0 KIAA1267 284058 broad.mit.edu 37 17 44110824 44110824 + Nonsense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:44110824C>T uc002ikb.2 - 11 2754 c.2669G>A c.(2668-2670)TGG>TAG p.W890* KIAA1267_uc002ikc.2_Nonsense_Mutation_p.W890*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.W890*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.W889*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.W221*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.W158* NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 890 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) AACCTCCCGCCAGCTGCAAAA 0.498 NA 4 36 0 0 0 0 USP32 84669 broad.mit.edu 37 17 58329765 58329765 + Silent SNP C C T rs61751977 byFrequency TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:58329765C>T uc002iyo.1 - 11 1399 c.1113G>A c.(1111-1113)CCG>CCA p.P371P USP32_uc002iyn.1_Silent_p.P41P|USP32_uc010wov.1_Silent_p.P371P NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 371 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CTTCTTCTTCCGGAGTAGCTG 0.328 NA 6 22 0 0 0 0 HGS 9146 broad.mit.edu 37 17 79658578 79658578 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:79658578G>A uc002kbg.2 + 8 716 c.639G>A c.(637-639)GAG>GAA p.E213E HGS_uc010wus.1_Silent_p.E213E NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 213 FYVE-type. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GCGTGTGTGAGCCCTGCTACG 0.602 NA 34 91 0 0 0 0 MYOM1 8736 broad.mit.edu 37 18 3188908 3188908 + Silent SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:3188908T>C uc002klp.2 - 4 943 c.609A>G c.(607-609)ACA>ACG p.T203T MYOM1_uc002klq.2_Silent_p.T203T NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 203 4.|6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GCTTGGATGCTGTGGACTGCT 0.532 NA 3 95 0 0 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:9887074G>A uc002koi.3 + 2 1047 c.598G>A c.(598-600)GAA>AAA p.E200K TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.E133K NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 GTCCTCAGAAGAAGCCATCCA 0.577 NA 5 201 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14537869 14537869 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:14537869G>T uc010dln.2 - 3 1195 c.741C>A c.(739-741)GTC>GTA p.V247V POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 247 ANK 4. skin(3) 3 CTTCATTGTGGACAGCATAGT 0.353 NA 40 82 4.34e-07 9.18e-07 1 0 TAF4B 6875 broad.mit.edu 37 18 23845146 23845146 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:23845146T>A uc002kvu.3 + 2 845 c.356T>A c.(355-357)ATT>AAT p.I119N TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.I119N NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 119 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) ACCGTTTTGATTAAAAGTAAC 0.393 NA 15 116 0 0 0 0 KLHL14 57565 broad.mit.edu 37 18 30350279 30350279 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:30350279C>T uc002kxm.1 - 2 664 c.276G>A c.(274-276)CCG>CCA p.P92P NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 92 BTB. cytosol|endoplasmic reticulum membrane ovary(1) 1 gctgctgtgacggctgctgct 0.522 NA 8 27 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50929242 50929242 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:50929242G>A uc002lfe.1 + 19 3501 c.2914G>A c.(2914-2916)GAA>AAA p.E972K DCC_uc010xdr.1_Missense_Mutation_p.E800K|DCC_uc010dpf.1_Missense_Mutation_p.E607K NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 972 Extracellular (Potential).|Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCCTCCCTTGGAAGCCAATGG 0.532 NA 5 151 0 0 0 0 DOK6 220164 broad.mit.edu 37 18 67425109 67425109 + Missense_Mutation SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:67425109G>T uc002lkl.2 + 7 1046 c.856G>T c.(856-858)GGT>TGT p.G286C NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 286 insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CAGTTTGCAAGGCAAGTCACT 0.438 NA 5 46 0.00116845 0.00236123 1 0 HMHA1 23526 broad.mit.edu 37 19 1080465 1080465 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:1080465G>A uc002lqz.1 + 15 2062 c.1831G>A c.(1831-1833)GGG>AGG p.G611R HMHA1_uc010xgd.1_Missense_Mutation_p.G627R|HMHA1_uc010xge.1_Missense_Mutation_p.G479R|HMHA1_uc002lra.1_Missense_Mutation_p.G451R|HMHA1_uc002lrb.1_Missense_Mutation_p.G494R|HMHA1_uc002lrc.1_Missense_Mutation_p.G246R|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 611 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTCCAGCCGGGCGAGGACA 0.692 NA 11 57 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9085508 9085508 + Nonsense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:9085508G>A uc002mkp.2 - 1 6511 c.6307C>T c.(6307-6309)CAA>TAA p.Q2103* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2103 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGATTTCTTTGCTTAGCAGCA 0.488 NA 24 218 0 0 0 0 RDH8 50700 broad.mit.edu 37 19 10129435 10129435 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:10129435G>T uc002mmr.2 + 3 540 c.291G>T c.(289-291)GGG>GGT p.G97G NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 97 Helical; (Potential). estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) GCCTGGTGGGGCCCCTGGAGG 0.507 NA 23 138 1.11e-12 2.42e-12 1 0 MAN2B1 4125 broad.mit.edu 37 19 12763060 12763060 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:12763060G>A uc002mub.2 - 16 2029 c.1953C>T c.(1951-1953)AAC>AAT p.N651N MAN2B1_uc010dyv.1_Silent_p.N650N NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 651 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 GGTCACTTTCGTTGTCACCTA 0.602 NA 22 94 0 0 0 0 ZNF101 94039 broad.mit.edu 37 19 19790618 19790618 + Silent SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:19790618A>C uc002nni.1 + 4 930 c.820A>C c.(820-822)AGA>CGA p.R274R ZNF101_uc010ecg.1_Silent_p.R154R|ZNF101_uc002nnj.1_Silent_p.R154R NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN zinc finger protein 101 274 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACATGAAATCAGATCTCACGC 0.423 NA 4 35 0 0 0 0 ZNF14 7561 broad.mit.edu 37 19 19822565 19822565 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:19822565C>T uc002nnk.1 - 4 1679 c.1525G>A c.(1525-1527)GGT>AGT p.G509S NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 509 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) AAGGTTTTACCGCATAGTTTA 0.393 NA 18 122 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22941431 22941431 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:22941431C>A uc010xrh.1 - 5 1007 c.1007G>T c.(1006-1008)TGT>TTT p.C336F NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATTCTTCACATTTGCAGGG 0.373 NA 29 65 1.75e-13 3.85e-13 1 0 WDR62 284403 broad.mit.edu 37 19 36572390 36572390 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:36572390C>T uc002odc.2 + 10 1380 c.1289C>T c.(1288-1290)ACT>ATT p.T430I WDR62_uc002odd.2_Missense_Mutation_p.T430I NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 430 WD 6. cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCCTTTCTGACTTGTTCTTCA 0.468 NA 15 115 0 0 0 0 SFRS16 11129 broad.mit.edu 37 19 45556084 45556084 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:45556084A>G uc002pak.2 + 4 331 c.233A>G c.(232-234)GAC>GGC p.D78G SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Intron|SFRS16_uc002pam.2_Missense_Mutation_p.D78G|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 78 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AACATGATTGACCGATTCGAT 0.602 NA 17 43 0 0 0 0 TMC4 147798 broad.mit.edu 37 19 54666830 54666830 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:54666830G>A uc010erf.2 - 9 1490 c.1358C>T c.(1357-1359)ACT>ATT p.T453I TMC4_uc002qdn.2_Missense_Mutation_p.T167I|TMC4_uc002qdo.2_Missense_Mutation_p.T447I NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 453 Cytoplasmic (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCCCCACAAGTGATCTGATT 0.582 NA 25 48 0 0 0 0 ZIM3 114026 broad.mit.edu 37 19 57648260 57648260 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:57648260C>T uc002qnz.1 - 4 608 c.222G>A c.(220-222)GTG>GTA p.V74V NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACTTCCCAGCACTTCCTCTT 0.517 NA 13 81 0 0 0 0 PSD4 23550 broad.mit.edu 37 2 113949982 113949982 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:113949982T>A uc002tjc.2 + 6 1837 c.1654T>A c.(1654-1656)TCT>ACT p.S552T PSD4_uc002tjd.2_Missense_Mutation_p.S173T|PSD4_uc002tje.2_Missense_Mutation_p.S523T|PSD4_uc002tjf.2_Missense_Mutation_p.S173T NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 552 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 ACCGATGAACTCTTCTTGGCT 0.547 NA 84 146 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179472661 179472661 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:179472661C>T uc010zfg.1 - 225 45373 c.45149G>A c.(45148-45150)CGC>CAC p.R15050H uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8745H|TTN_uc010zfi.1_Missense_Mutation_p.R8678H|TTN_uc010zfj.1_Missense_Mutation_p.R8553H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15977 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTGTGCAGCGTGACCATTC 0.478 NA 34 103 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202131228 202131228 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:202131228C>G uc002uxr.1 + 3 228 c.19C>G c.(19-21)CTT>GTT p.L7V CASP8_uc010ftc.1_Missense_Mutation_p.L7V|CASP8_uc002uxo.1_Missense_Mutation_p.L7V|CASP8_uc002uxp.1_Missense_Mutation_p.L7V|CASP8_uc002uxq.1_Missense_Mutation_p.L7V|CASP8_uc002uxs.1_Missense_Mutation_p.L7V|CASP8_uc002uxt.1_Missense_Mutation_p.L66V|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.L7V|CASP8_uc002uxw.1_Missense_Mutation_p.L7V|CASP8_uc002uxy.1_Missense_Mutation_p.L7V|CASP8_uc002uxx.1_Missense_Mutation_p.L7V|CASP8_uc010ftf.2_Missense_Mutation_p.L7V NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 7 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CAGCAGAAATCTTTATGATAT 0.408 NA HNSCC(4;0.00038) 16 43 0 0 0 0 ALS2 57679 broad.mit.edu 37 2 202625656 202625656 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:202625656T>A uc002uyo.2 - 4 1417 c.1061A>T c.(1060-1062)GAT>GTT p.D354V ALS2_uc002uyp.3_Missense_Mutation_p.D354V|ALS2_uc002uyq.2_Missense_Mutation_p.D354V|ALS2_uc002uyr.2_Missense_Mutation_p.D354V NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 354 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TACTGAATGATCTGACAGTTT 0.413 NA 17 74 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212488657 212488657 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:212488657G>A uc002veg.1 - 18 2290 c.2192C>T c.(2191-2193)ACG>ATG p.T731M ERBB4_uc002veh.1_Missense_Mutation_p.T731M|ERBB4_uc010zji.1_Missense_Mutation_p.T721M|ERBB4_uc010zjj.1_Missense_Mutation_p.T721M|ERBB4_uc010fut.1_Missense_Mutation_p.T731M NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 731 ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTTATAAACCGTTCCAAAAGC 0.363 NA TSP Lung(8;0.080) 11 49 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212568852 212568852 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:212568852G>A uc002veg.1 - 11 1364 c.1266C>T c.(1264-1266)ACC>ACT p.T422T ERBB4_uc002veh.1_Silent_p.T422T|ERBB4_uc010zji.1_Silent_p.T422T|ERBB4_uc010zjj.1_Silent_p.T422T|ERBB4_uc010fut.1_Silent_p.T422T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 422 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTCCACCAATGGTCACCAGGT 0.393 NA TSP Lung(8;0.080) 21 80 0 0 0 0 ASB18 401036 broad.mit.edu 37 2 237172797 237172797 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:237172797G>A uc010znh.1 - 1 192 c.192C>T c.(190-192)ACC>ACT p.T64T NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box-containing 18 64 intracellular signal transduction ovary(1) 1 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) GCAGCATGCCGGTGGGCAGCT 0.527 NA 4 33 0 0 0 0 LBP 3929 broad.mit.edu 37 20 36992665 36992665 + Missense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr20:36992665A>T uc002xic.1 + 7 724 c.689A>T c.(688-690)TAT>TTT p.Y230F NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 230 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) GACATTGATTATAGCTTAGTG 0.557 NA 16 40 0 0 0 0 C20orf111 51526 broad.mit.edu 37 20 42825851 42825851 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr20:42825851C>T uc002xlk.2 - 4 857 c.720G>A c.(718-720)TCG>TCA p.S240S NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 240 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) TGGCGTGCAGCGACTGAGAGT 0.532 NA 8 102 0 0 0 0 FOXRED2 80020 broad.mit.edu 37 22 36900343 36900343 + Missense_Mutation SNP G G A rs142793535 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:36900343G>A uc003apn.3 - 3 959 c.851C>T c.(850-852)ACG>ATG p.T284M FOXRED2_uc003apo.3_Missense_Mutation_p.T284M|FOXRED2_uc003app.3_Missense_Mutation_p.T284M NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 284 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 GGCCAGATCCGTCAGGTCAGA 0.562 NA 24 46 0 0 0 0 CBX7 23492 broad.mit.edu 37 22 39529912 39529912 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:39529912C>A uc003axb.2 - 6 829 c.740G>T c.(739-741)CGC>CTC p.R247L CBX7_uc003axc.2_Missense_Mutation_p.R154L NM_175709 NP_783640 O95931 CBX7_HUMAN chromobox homolog 7 247 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex ovary(1) 1 Melanoma(58;0.04) CTTCCCACTGCGGTCTCGGAA 0.577 NA 12 74 9.31e-06 1.94e-05 1 0 MKL1 57591 broad.mit.edu 37 22 40815260 40815260 + Silent SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:40815260A>G uc003ayv.1 - 9 1389 c.1182T>C c.(1180-1182)CCT>CCC p.P394P MKL1_uc003ayw.1_Silent_p.P394P|MKL1_uc010gye.1_Silent_p.P394P|MKL1_uc010gyf.1_Silent_p.P344P NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 394 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 AGGTGGCGGCAGGGGCCTTGG 0.657 NA T RBM15 acute megakaryocytic leukemia 6 16 0 0 0 0 IL17REL 400935 broad.mit.edu 37 22 50439548 50439548 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:50439548C>T uc003bje.1 - 4 304 c.72G>A c.(70-72)GCG>GCA p.A24A NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 24 pancreas(1) 1 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCAGGAGCATCGCGCAGCCGT 0.662 NA 6 11 0 0 0 0 LMF2 91289 broad.mit.edu 37 22 50943500 50943500 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:50943500A>G uc003blp.2 - 9 1271 c.1240T>C c.(1240-1242)TTC>CTC p.F414L LMF2_uc010hba.2_Missense_Mutation_p.F236L|LMF2_uc003blo.2_Missense_Mutation_p.F389L NM_033200 NP_149977 Q9BU23 LMF2_HUMAN lipase maturation factor 2 414 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane breast(1) 1 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTAATCAGGAACAAGGCCACG 0.647 NA 12 41 0 0 0 0 SETMAR 6419 broad.mit.edu 37 3 4355272 4355272 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:4355272C>G uc011asp.1 + 2 914 c.847C>G c.(847-849)CTA>GTA p.L283V SUMF1_uc003bps.1_Intron|SETMAR_uc003bpw.3_Missense_Mutation_p.L270V|SETMAR_uc003bpy.3_Intron|SETMAR_uc011asq.1_Intron|SETMAR_uc011asr.1_Intron|SETMAR_uc010hbx.2_Missense_Mutation_p.L78V NM_006515 NP_006506 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion 270 Post-SET.|Histone-lysine N-methyltransferase. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding ovary(1) 1 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) TCATGGGAAACTAAGGAAACC 0.403 NA Chromatin_Structure|Direct_reversal_of_damage 10 34 0 0 0 0 SLMAP 7871 broad.mit.edu 37 3 57898145 57898145 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:57898145C>T uc003dje.1 + 18 1891 c.1686C>T c.(1684-1686)CTC>CTT p.L562L SLMAP_uc003djd.1_Silent_p.L545L|SLMAP_uc003djf.1_Silent_p.L524L|SLMAP_uc003djg.1_Silent_p.L156L|SLMAP_uc011bez.1_Silent_p.L30L|SLMAP_uc011bfa.1_Silent_p.L96L|SLMAP_uc003djh.2_Silent_p.L55L|SLMAP_uc003dji.1_Silent_p.L96L|SLMAP_uc011bfb.1_Silent_p.L96L|SLMAP_uc011bfc.1_Silent_p.L55L NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 562 Cytoplasmic (Potential).|Potential. muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) CTGAGAATCTCCGGGAGGAGA 0.413 NA 11 56 0 0 0 0 OR5H14 403273 broad.mit.edu 37 3 97868899 97868899 + Missense_Mutation SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:97868899A>C uc003dsg.1 + 1 670 c.670A>C c.(670-672)ACA>CCA p.T224P NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGTCCTCTATACAATCTTGAA 0.358 NA 3 38 0 0 0 0 OR5H6 79295 broad.mit.edu 37 3 97983841 97983841 + Missense_Mutation SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:97983841T>C uc003dsi.1 + 1 713 c.713T>C c.(712-714)CTC>CCC p.L238P NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 238 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 ACAATTATCCTCTTTACAATC 0.353 NA 4 35 0 0 0 0 HHLA2 11148 broad.mit.edu 37 3 108072558 108072558 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:108072558G>A uc003dwy.3 + 4 516 c.349G>A c.(349-351)GGA>AGA p.G117R HHLA2_uc011bhl.1_Missense_Mutation_p.G53R|HHLA2_uc010hpu.2_Missense_Mutation_p.G117R|HHLA2_uc003dwz.2_Missense_Mutation_p.G117R NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 117 Ig-like V-type 1. integral to membrane ovary(1) 1 TCTGGACGAAGGAATTTACAC 0.403 NA 15 34 0 0 0 0 IGSF10 285313 broad.mit.edu 37 3 151161398 151161398 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:151161398C>A uc011bod.1 - 5 5337 c.5337G>T c.(5335-5337)TGG>TGT p.W1779C IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1779 Ig-like C2-type 4. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGCAAGAATCCAGGTAACTG 0.498 NA 16 93 9.17e-09 1.97e-08 1 0 MSX1 4487 broad.mit.edu 37 4 4864759 4864759 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:4864759G>T uc003gif.2 + 2 1036 c.801G>T c.(799-801)GCG>GCT p.A267A NM_002448 NP_002439 P28360 MSX1_HUMAN msh homeobox 1 261 Poly-Ala. apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CGGCCGCGGCGGGTGCCTCGC 0.706 NA 6 18 5.94e-07 1.25e-06 1 0 AIMP1 9255 broad.mit.edu 37 4 107252981 107252981 + Missense_Mutation SNP G G A rs148281523 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:107252981G>A uc011cfg.1 + 5 596 c.544G>A c.(544-546)GGA>AGA p.G182R AIMP1_uc003hyg.2_Missense_Mutation_p.G182R|AIMP1_uc003hyh.2_Missense_Mutation_p.G206R NM_001142415 NP_001135887 Q12904 AIMP1_HUMAN small inducible cytokine subfamily E, member 1 182 tRNA-binding.|Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration. angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding 0 AGTAGATGTCGGAGAAATAGC 0.428 NA 27 189 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126241670 126241670 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:126241670C>T uc003ifj.3 + 1 4104 c.4104C>T c.(4102-4104)AAC>AAT p.N1368N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1368 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTAGCCCAAACACTGGGAGTA 0.378 NA 21 72 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153247226 153247226 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:153247226A>G uc003ims.2 - 10 1725 c.1576T>C c.(1576-1578)TGG>CGG p.W526R FBXW7_uc011cii.1_Missense_Mutation_p.W526R|FBXW7_uc003imt.2_Missense_Mutation_p.W526R|FBXW7_uc011cih.1_Missense_Mutation_p.W350R|FBXW7_uc003imq.2_Missense_Mutation_p.W446R|FBXW7_uc003imr.2_Missense_Mutation_p.W408R NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 526 WD 4. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.W526R(2) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCTGGATCCCACACCTTTACC 0.428 NA Mis|N|D|F colorectal|endometrial|T-ALL 16 89 0 0 0 0 ACCN5 51802 broad.mit.edu 37 4 156752996 156752996 + Missense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:156752996A>T uc003ipe.1 - 9 1354 c.1307T>A c.(1306-1308)GTG>GAG p.V436E NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 436 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) AGACACACTCACCGCCTTTTG 0.249 NA 17 73 0 0 0 0 WDR17 116966 broad.mit.edu 37 4 177081214 177081214 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:177081214G>A uc003iuj.2 + 20 2823 c.2667G>A c.(2665-2667)GTG>GTA p.V889V WDR17_uc003iuk.2_Silent_p.V865V|WDR17_uc003ium.3_Silent_p.V865V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Silent_p.V108V NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 889 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTGGTGATGTGAAAAAGCTAG 0.378 NA 8 32 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187628208 187628208 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:187628208G>C uc003izf.2 - 2 2962 c.2774C>G c.(2773-2775)CCT>CGT p.P925R FAT1_uc010iso.1_Missense_Mutation_p.P925R NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 925 Extracellular (Potential).|Cadherin 7. 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 AATAAATGTAGGTGGGTTGTC 0.458 NA HNSCC(5;0.00058) 38 249 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23522511 23522511 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:23522511C>A uc003jgo.2 + 7 789 c.607C>A c.(607-609)CTC>ATC p.L203I NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 203 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TGATGATTACCTCTGTAAGTG 0.438 NA HNSCC(3;0.000094) 32 110 9.66e-10 2.1e-09 1 0 OTP 23440 broad.mit.edu 37 5 76932942 76932942 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:76932942G>A uc003kfg.2 - 2 299 c.151C>T c.(151-153)CCA>TCA p.P51S NM_032109 NP_115485 Q5XKR4 OTP_HUMAN orthopedia homeobox 51 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) CCCTCCACTGGGTCAGAGTTG 0.716 NA 8 9 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:140237249G>C uc003lhx.2 + 1 1616 c.1616G>C c.(1615-1617)GGG>GCG p.G539A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 539 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687 NA 7 107 0 0 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558802 140558802 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:140558802C>A uc011dai.1 + 1 1373 c.1187C>A c.(1186-1188)TCT>TAT p.S396Y PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 396 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCTGAAATCTTCTGTGGGG 0.453 NA 34 447 2.82e-10 6.16e-10 1 0 ITK 3702 broad.mit.edu 37 5 156668657 156668657 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:156668657C>T uc003lwo.1 + 11 1069 c.987C>T c.(985-987)GGC>GGT p.G329G NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 329 SH2. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCAACCCAGGCCTGGTGACTC 0.448 NA T SYK peripheral T-cell lymphoma 9 24 0 0 0 0 GFPT2 9945 broad.mit.edu 37 5 179740899 179740899 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:179740899C>T uc003mlw.1 - 14 1437 c.1339G>A c.(1339-1341)GTC>ATC p.V447I NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 447 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GTGTTGGTGACGCCCACGGTG 0.706 NA 4 14 0 0 0 0 SERPINB9 5272 broad.mit.edu 37 6 2900802 2900802 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:2900802A>G uc003mug.2 - 2 165 c.44T>C c.(43-45)CTT>CCT p.L15P uc003mue.2_RNA|SERPINB9_uc003muh.2_Missense_Mutation_p.L15P NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 15 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) TATCTTTAAAAGGCGTATGGC 0.473 NA 3 162 0 0 0 0 LRFN2 57497 broad.mit.edu 37 6 40399668 40399668 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:40399668G>A uc003oph.1 - 2 1650 c.1185C>T c.(1183-1185)CGC>CGT p.R395R NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 395 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TGTCTGAGAGGCGGGACTTGG 0.667 NA 14 43 0 0 0 0 PHF3 23469 broad.mit.edu 37 6 64422707 64422707 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:64422707G>A uc003pep.1 + 15 5249 c.5223G>A c.(5221-5223)GAG>GAA p.E1741E PHF3_uc003pen.2_Silent_p.E1653E|PHF3_uc011dxs.1_Silent_p.E1010E NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1741 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCTTACAGGAGGATATTTTAA 0.388 NA 10 41 0 0 0 0 MED23 9439 broad.mit.edu 37 6 131917269 131917269 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:131917269G>A uc003qcs.1 - 22 2987 c.2813C>T c.(2812-2814)GCG>GTG p.A938V MED23_uc003qcq.2_Missense_Mutation_p.A944V|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.A579V NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 938 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CACCTGTTCCGCGAGGCCCTC 0.383 NA 25 70 0 0 0 0 AHR 196 broad.mit.edu 37 7 17349613 17349613 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:17349613G>C uc011jxz.1 + 2 732 c.119G>C c.(118-120)AGA>ACA p.R40T AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 40 Basic motif. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) AAGCGGCATAGAGACCGACTT 0.383 NA 8 38 0 0 0 0 MACC1 346389 broad.mit.edu 37 7 20199733 20199733 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:20199733A>G uc003sus.3 - 5 560 c.251T>C c.(250-252)CTA>CCA p.L84P MACC1_uc010kug.2_Missense_Mutation_p.L84P NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 84 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 GTTATTTCTTAGTTGAGTTAT 0.348 NA 16 37 0 0 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378780 31378780 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:31378780C>G uc003tch.2 - 2 456 c.103G>C c.(103-105)GAA>CAA p.E35Q NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 35 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 GAAAAGCTTTCTGGCTTCTTA 0.333 NA 37 121 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48390266 48390266 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:48390266C>T uc003toq.2 + 30 10256 c.10231C>T c.(10231-10233)CAT>TAT p.H3411Y ABCA13_uc010kys.1_Missense_Mutation_p.H485Y|ABCA13_uc003tos.1_Missense_Mutation_p.H237Y NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3411 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GATGTTTAACCATGCAGGCGC 0.512 NA 63 103 0 0 0 0 ZPBP 11055 broad.mit.edu 37 7 50121443 50121443 + Silent SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:50121443C>G uc003tou.2 - 3 331 c.261G>C c.(259-261)ACG>ACC p.T87T ZPBP_uc011kci.1_Silent_p.T13T|ZPBP_uc010kyw.2_Silent_p.T87T NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 87 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) GCAGTTGTTGCGTTACACATA 0.343 NA 23 39 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432010 117432010 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:117432010C>T uc003vjf.2 - 4 1332 c.1240G>A c.(1240-1242)GGC>AGC p.G414S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 414 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGAGCTATGCCTGGTGTTTGA 0.527 NA 4 142 0 0 0 0 FAM115C 285966 broad.mit.edu 37 7 143417084 143417084 + Missense_Mutation SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:143417084G>T uc003wdf.2 + 3 1015 c.932G>T c.(931-933)TGT>TTT p.C311F FAM115C_uc003wdg.2_Missense_Mutation_p.C30F|FAM115C_uc011ktk.1_Missense_Mutation_p.C311F|FAM115C_uc003wdh.2_Missense_Mutation_p.C311F|FAM115C_uc011ktm.1_Missense_Mutation_p.C311F|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Missense_Mutation_p.C147F|FAM115C_uc003wdi.1_Missense_Mutation_p.C30F NM_001130025 NP_001123497 A6NFQ2 F115C_HUMAN hypothetical protein LOC285966 isoform A 311 0 AAAGATCTGTGTCCTCTCCTA 0.562 NA 6 19 1.59e-06 3.33e-06 1 0 SNTG1 54212 broad.mit.edu 37 8 51571204 51571204 + Missense_Mutation SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:51571204T>C uc010lxy.1 + 16 1390 c.1019T>C c.(1018-1020)ATT>ACT p.I340T SNTG1_uc003xqs.1_Missense_Mutation_p.I340T|SNTG1_uc010lxz.1_Missense_Mutation_p.I340T|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 340 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTTTATGAGATTATGTGCAAG 0.358 NA 26 30 0 0 0 0 SULF1 23213 broad.mit.edu 37 8 70476367 70476367 + Nonsense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:70476367C>T uc010lza.1 + 5 874 c.157C>T c.(157-159)CAA>TAA p.Q53* SULF1_uc003xyd.2_Nonsense_Mutation_p.Q53*|SULF1_uc003xye.2_Nonsense_Mutation_p.Q53*|SULF1_uc003xyf.2_Nonsense_Mutation_p.Q53*|SULF1_uc003xyg.2_Nonsense_Mutation_p.Q53* NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 53 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TACCGATGATCAAGATGTGGA 0.468 NA 26 108 0 0 0 0 TRAM1 23471 broad.mit.edu 37 8 71520380 71520380 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:71520380C>T uc003xyo.1 - 1 225 c.55G>A c.(55-57)GTC>ATC p.V19I TRAM1_uc011lfc.1_Intron NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 19 Cytoplasmic (Potential). cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) TTCTGCAGGACGAATTCGTGG 0.662 NA 24 103 0 0 0 0 ZBTB10 65986 broad.mit.edu 37 8 81400004 81400004 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:81400004A>G uc003ybx.3 + 1 1557 c.959A>G c.(958-960)GAA>GGA p.E320G ZBTB10_uc003ybv.3_Intron|ZBTB10_uc003ybw.3_Missense_Mutation_p.E320G|ZBTB10_uc010lzt.2_Missense_Mutation_p.E320G NM_001105539 NP_001099009 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 isoform 320 transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1) 1 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) AAACTCCACGAAGCCAACGCC 0.537 NA 6 102 0 0 0 0 NECAB1 64168 broad.mit.edu 37 8 91929759 91929759 + Nonsense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:91929759A>T uc011lgg.1 + 6 591 c.397A>T c.(397-399)AGA>TGA p.R133* NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 133 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) ATTCGTAACTAGATTTTTATT 0.403 NA 14 28 0 0 0 0 NECAB1 64168 broad.mit.edu 37 8 91929771 91929771 + Nonsense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:91929771A>T uc011lgg.1 + 6 603 c.409A>T c.(409-411)AAG>TAG p.K137* NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 137 Potential. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) ATTTTTATTGAAGGAAACCCT 0.393 NA 16 30 0 0 0 0 INTS8 55656 broad.mit.edu 37 8 95862216 95862216 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:95862216G>C uc003yhb.2 + 12 1530 c.1404G>C c.(1402-1404)TTG>TTC p.L468F INTS8_uc003yha.1_Missense_Mutation_p.L468F|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.L295F NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 468 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TCATTACATTGTTGAAAGATG 0.353 NA 8 76 0 0 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999224 143999224 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:143999224C>T uc003yxk.1 - 1 36 c.33G>A c.(31-33)GTG>GTA p.V11V NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 11 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AGGGCGCTGCCACGCACACCT 0.617 NA Familial_Hyperaldosteronism_type_I 41 180 0 0 0 0 FAM83H 286077 broad.mit.edu 37 8 144811234 144811234 + Missense_Mutation SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:144811234G>T uc003yzk.2 - 4 709 c.640C>A c.(640-642)CCC>ACC p.P214T FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 214 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TAGTAGGTGGGGCCCGCCACA 0.627 NA 31 112 3.9e-15 8.6e-15 1 0 PLEC 5339 broad.mit.edu 37 8 145012832 145012832 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:145012832G>T uc003zaf.1 - 2 722 c.552C>A c.(550-552)ACC>ACA p.T184T PLEC_uc003zab.1_Silent_p.T47T|PLEC_uc003zac.1_Silent_p.T51T|PLEC_uc003zad.2_Silent_p.T47T|PLEC_uc003zae.1_Silent_p.T15T|PLEC_uc003zag.1_Silent_p.T25T|PLEC_uc003zah.2_Silent_p.T33T|PLEC_uc003zaj.2_Silent_p.T74T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 184 CH 1.|Globular 1.|Actin-binding. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACTTGGTGAAGGTTTTCTTCT 0.637 NA 17 85 6.94e-10 1.51e-09 1 0 TPD52L3 89882 broad.mit.edu 37 9 6328941 6328941 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:6328941G>A uc003zjw.2 + 1 567 c.346G>A c.(346-348)GCC>ACC p.A116T TPD52L3_uc003zjv.2_Missense_Mutation_p.A116T|TPD52L3_uc003zjx.1_Missense_Mutation_p.A116T NM_033516 NP_277051 Q96J77 TPD55_HUMAN protein kinase NYD-SP25 isoform 1 116 protein binding 0 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) GAAGAAGTCGGCCACATTCAG 0.517 NA 12 74 0 0 0 0 TTC39B 158219 broad.mit.edu 37 9 15199906 15199906 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:15199906G>A uc003zlr.1 - 8 700 c.579C>T c.(577-579)AAC>AAT p.N193N TTC39B_uc003zlq.1_Silent_p.N162N|TTC39B_uc011lmp.1_Silent_p.N94N|TTC39B_uc010mie.1_Silent_p.N191N|TTC39B_uc011lmq.1_Silent_p.N193N|TTC39B_uc011lmr.1_Silent_p.N124N|TTC39B_uc010mif.1_Silent_p.N193N|TTC39B_uc003zls.1_Silent_p.N94N|TTC39B_uc010mig.1_Silent_p.N162N|TTC39B_uc011lms.1_Intron NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 193 binding ovary(1) 1 CTTTGATGAAGTTGATCATAT 0.274 NA 4 22 0 0 0 0 ACO1 48 broad.mit.edu 37 9 32407405 32407405 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:32407405C>T uc003zqw.3 + 3 399 c.244C>T c.(244-246)CGT>TGT p.R82C ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.R82C|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 82 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TAAGCCTGCTCGTGTCATCCT 0.388 NA 9 44 0 0 0 0 CCDC107 203260 broad.mit.edu 37 9 35658694 35658694 + Silent SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:35658694C>G uc011lox.1 + 2 294 c.228C>G c.(226-228)GTC>GTG p.V76V RMRP_uc003zxh.1_5'Flank|CCDC107_uc010mkx.1_Silent_p.V76V|CCDC107_uc011loy.1_Silent_p.V76V|CCDC107_uc003zxj.2_Silent_p.V76V|CCDC107_uc003zxk.2_Silent_p.V76V NM_174923 NP_777583 Q8WV48 CC107_HUMAN coiled-coil domain containing 107 precursor 76 Helical; (Potential). integral to membrane 0 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCGCGGCCGTCGCGGCTTTTG 0.731 NA 11 32 0 0 0 0 PGM5 5239 broad.mit.edu 37 9 71098810 71098810 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:71098810C>T uc004agr.2 + 9 1554 c.1325C>T c.(1324-1326)ACG>ATG p.T442M NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 442 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 GATCCCAAGACGACATATTAT 0.512 NA 15 51 0 0 0 0 SHC3 53358 broad.mit.edu 37 9 91657049 91657049 + Missense_Mutation SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:91657049T>C uc004aqg.2 - 10 1559 c.1252A>G c.(1252-1254)ACG>GCG p.T418A NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 418 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 GCTTCTCCCGTGGGGGCCACG 0.572 NA 35 102 0 0 0 0 SPTAN1 6709 broad.mit.edu 37 9 131367378 131367378 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:131367378G>C uc004bvl.3 + 30 3898 c.3785G>C c.(3784-3786)GGA>GCA p.G1262A SPTAN1_uc011mbh.1_Missense_Mutation_p.G1274A|SPTAN1_uc004bvm.3_Missense_Mutation_p.G1262A|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1242A NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1262 Spectrin 14. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GACAATTATGGACATGATCTC 0.488 NA 5 42 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139396213 139396213 + Missense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:139396213A>T uc004chz.2 - 30 5625 c.5625T>A c.(5623-5625)AAT>AAA p.N1875K NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1875 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCCCGCGGACATTGACGTCCA 0.662 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 7 29 0 0 0 0 FANCB 2187 broad.mit.edu 37 X 14861944 14861944 + Silent SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:14861944A>C uc004cwg.1 - 10 2593 c.2325T>G c.(2323-2325)TCT>TCG p.S775S FANCB_uc004cwh.1_Silent_p.S775S NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 775 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) TAGCTATGGCAGAAGAAAGAG 0.383 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 14 71 0 0 0 0 LANCL3 347404 broad.mit.edu 37 X 37431412 37431412 + Nonsense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:37431412A>T uc011mkd.1 + 1 591 c.289A>T c.(289-291)AAG>TAG p.K97* LANCL3_uc004ddp.1_Nonsense_Mutation_p.K97* NM_198511 NP_940913 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 97 catalytic activity 0 GCGCTCGGCTAAGCGCCTCAT 0.716 NA 4 13 0 0 0 0 LANCL3 347404 broad.mit.edu 37 X 37431414 37431414 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:37431414G>A uc011mkd.1 + 1 593 c.291G>A c.(289-291)AAG>AAA p.K97K LANCL3_uc004ddp.1_Silent_p.K97K NM_198511 NP_940913 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 97 catalytic activity 0 GCTCGGCTAAGCGCCTCATCG 0.716 NA 4 13 0 0 0 0 SUV39H1 6839 broad.mit.edu 37 X 48564736 48564736 + Nonsense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:48564736C>A uc004dkn.2 + 4 954 c.909C>A c.(907-909)TAC>TAA p.Y303* SUV39H1_uc011mmf.1_Nonsense_Mutation_p.Y314*|SUV39H1_uc011mmg.1_RNA NM_003173 NP_003164 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 303 Mediates interaction with MECOM (By similarity).|SET. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding 0 ACCTGGACTACGTGGAGGACG 0.612 NA 13 69 6.32e-08 1.34e-07 1 0 FOXR2 139628 broad.mit.edu 37 X 55650595 55650595 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:55650595G>A uc004duo.2 + 1 763 c.451G>A c.(451-453)GAC>AAC p.D151N NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 151 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(2)|central_nervous_system(1) 3 TTCCCCCAGTGACTTTGAGCT 0.502 NA 9 54 0 0 0 0 VSIG4 11326 broad.mit.edu 37 X 65253341 65253341 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:65253341C>A uc004dwh.2 - 2 514 c.387G>T c.(385-387)AAG>AAT p.K129N VSIG4_uc004dwi.2_Missense_Mutation_p.K129N|VSIG4_uc010nkq.1_Missense_Mutation_p.K129N|VSIG4_uc004dwj.2_Missense_Mutation_p.K129N|VSIG4_uc011moy.1_Missense_Mutation_p.K129N|VSIG4_uc004dwk.2_Missense_Mutation_p.K129N|VSIG4_uc004dwl.2_Missense_Mutation_p.K25N NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 129 Ig-like 1.|Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 GCTCAGTAATCTTATCTCTCA 0.473 NA 28 121 1.16e-09 2.51e-09 1 0 ZMYM3 9203 broad.mit.edu 37 X 70461117 70461117 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:70461117G>A uc004dzh.1 - 24 3967 c.3880C>T c.(3880-3882)CGC>TGC p.R1294C BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.R1294C|ZMYM3_uc004dzj.1_Missense_Mutation_p.R1282C NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 1294 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) ACAGGGCAGCGGAGGGGATTC 0.507 NA 5 39 0 0 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425660 71425660 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:71425660G>C uc004eaq.1 - 2 3054 c.2957C>G c.(2956-2958)CCT>CGT p.P986R PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.P863R NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 986 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) TCTGGAATTAGGTGCAGAGCC 0.393 NA 30 59 0 0 0 0 ARMCX3 51566 broad.mit.edu 37 X 100879979 100879979 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:100879979G>A uc004ehz.1 + 5 543 c.10G>A c.(10-12)GCC>ACC p.A4T ARMCX3_uc004eia.1_Missense_Mutation_p.A4T|ARMCX3_uc004eib.1_Missense_Mutation_p.A4T|ARMCX3_uc004eic.1_Missense_Mutation_p.A4T NM_016607 NP_057691 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 4 integral to membrane binding ovary(1)|lung(1) 2 CATGGGCTACGCCAGGAAAGT 0.557 NA 15 80 0 0 0 0 NXF5 55998 broad.mit.edu 37 X 101095787 101095787 + Silent SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:101095787G>C uc011mrk.1 - 9 921 c.561C>G c.(559-561)GTC>GTG p.V187V NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 187 LRR 2. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 TCAGGGTCTTGACTTTGGGAG 0.478 NA 5 44 0 0 0 0 NXF3 56000 broad.mit.edu 37 X 102337969 102337969 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:102337969C>T uc004eju.2 - 7 725 c.654G>A c.(652-654)CAG>CAA p.Q218Q NXF3_uc010noi.1_Silent_p.Q68Q|NXF3_uc011mrw.1_Silent_p.Q218Q|NXF3_uc011mrx.1_Silent_p.Q129Q NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 218 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 CAAGAGCTTCCTGGGAGACAT 0.498 NA 33 308 0 0 0 0 HTR2C 3358 broad.mit.edu 37 X 114141460 114141460 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:114141460C>T uc004epu.1 + 6 1587 c.859C>T c.(859-861)CGC>TGC p.R287C HTR2C_uc010nqc.1_Missense_Mutation_p.R287C|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 287 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CCAGAACGCACGCCGAAGAAA 0.493 NA 20 141 0 0 0 0 PGRMC1 10857 broad.mit.edu 37 X 118370576 118370576 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:118370576G>A uc004erb.2 + 1 366 c.250G>A c.(250-252)GTC>ATC p.V84I PGRMC1_uc011mts.1_Missense_Mutation_p.V84I NM_006667 NP_006658 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 84 Cytochrome b5 heme-binding.|Cytoplasmic (Potential). cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding 0 CTTCGACGGCGTCCAGGACCC 0.721 NA 4 30 0 0 0 0 ODZ1 10178 broad.mit.edu 37 X 123518065 123518065 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:123518065C>G uc004euj.2 - 29 6759 c.6695G>C c.(6694-6696)GGC>GCC p.G2232A ODZ1_uc011muj.1_Missense_Mutation_p.G2238A|ODZ1_uc010nqy.2_Missense_Mutation_p.G2239A NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2232 YD 20.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CTGCAGCAGGCCATTAGAATT 0.463 NA 9 82 0 0 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092703 151092703 + Silent SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:151092703C>G uc004fez.2 + 3 723 c.567C>G c.(565-567)GGC>GGG p.G189G MAGEA4_uc004ffa.2_Silent_p.G189G|MAGEA4_uc004ffb.2_Silent_p.G189G|MAGEA4_uc004ffc.2_Silent_p.G189G|MAGEA4_uc004ffd.2_Silent_p.G189G NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 189 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCTATGATGGCCTGCTGGGTA 0.537 NA 15 161 0 0 0 0 MPP1 4354 broad.mit.edu 37 X 154013398 154013398 + Missense_Mutation SNP C C T rs146674414 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:154013398C>T uc004fmp.1 - 7 827 c.712G>A c.(712-714)GAA>AAA p.E238K MPP1_uc010nvg.1_Missense_Mutation_p.E218K|MPP1_uc011mzv.1_Missense_Mutation_p.E208K|MPP1_uc004fmq.1_Missense_Mutation_p.E192K|MPP1_uc011mzw.1_Missense_Mutation_p.E221K|MPP1_uc010nvh.1_Missense_Mutation_p.E112K NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 238 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCGGGGCTTCGCTAGGAGCT 0.552 NA 4 25 0 0 0 0 F8 2157 broad.mit.edu 37 X 154159320 154159320 + Silent SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:154159320T>G uc004fmt.2 - 14 2916 c.2745A>C c.(2743-2745)GCA>GCC p.A915A NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 915 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TATCAGTACCTGCTGCCAAAT 0.378 NA 5 82 0 0 0 0 ITGB3 3690 broad.mit.edu 37 17 45361893 45361893 + Frame_Shift_Del DEL C C - TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:45361893delC uc002ilj.2 + 4 466 c.446delC c.(445-447)TCCfs p.S149fs ITGB3_uc002ili.1_Frame_Shift_Del_p.S149fs|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 149 VWFA.|Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) CTGTCTTACTCCATGAAGGAT 0.512 NA 29 62 --- --- --- --- NA NA NA NA ZNF654 55279 broad.mit.edu 37 3 88188748 88188750 + In_Frame_Del DEL TAC TAC - TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:88188748_88188750delTAC uc003dqv.2 + 1 487_489 c.288_290delTAC c.(286-291)CTTACT>CTT p.T97del CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TGGAGACACTTACTGCTTCTAGT 0.34 NA 12 32 --- --- --- --- NA NA NA NA DOK7 285489 broad.mit.edu 37 4 3494760 3494783 + In_Frame_Del DEL CAGCAGCCTCTCGTCCTACGCGGG CAGCAGCCTCTCGTCCTACGCGGG - TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:3494760_3494783delCAGCAGCCTCTCGTCCTACGCGGG uc003ghd.2 + 7 1117_1140 c.1047_1070delCAGCAGCCTCTCGTCCTACGCGGG c.(1045-1071)TCCAGCAGCCTCTCGTCCTACGCGGGC>TCC p.SSLSSYAG350del DOK7_uc003ghe.2_In_Frame_Del_p.SSLSSYAG212del|DOK7_uc003ghf.2_In_Frame_Del_p.AASRPTRA92del|DOK7_uc003ghg.1_In_Frame_Del_p.SSLSSYAG40del NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 350_357 Ser-rich. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCTTACTCCAGCAGCCTCTCGTCCTACGCGGGCAGCAGCCTG 0.714 NA 3 5 --- --- --- --- NA NA NA NA FBXW7 55294 broad.mit.edu 37 4 153259045 153259046 + Frame_Shift_Ins INS - - TGAGT TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:153259045_153259046insTGAGT uc003ims.2 - 5 918_919 c.769_770insACTCA c.(769-771)ATTfs p.I257fs FBXW7_uc011cii.1_Frame_Shift_Ins_p.I257fs|FBXW7_uc003imt.2_Frame_Shift_Ins_p.I257fs|FBXW7_uc011cih.1_Frame_Shift_Ins_p.I81fs|FBXW7_uc003imq.2_Frame_Shift_Ins_p.I177fs|FBXW7_uc003imr.2_Frame_Shift_Ins_p.I139fs NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 257 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ACAACTATCAATGAGTTCATCT 0.356 NA Mis|N|D|F colorectal|endometrial|T-ALL 14 40 --- --- --- --- NA NA NA NA