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 AIM1L 55057 broad.mit.edu 37 1 26663842 26663842 + Missense_Mutation SNP G G A rs145909949 by1000genomes TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:26663842G>A uc001bmd.3 - 9 968 c.538C>T c.(538-540)CGG>TGG p.R180W AIM1L_uc001bmf.3_Missense_Mutation_p.R71W NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 180 Beta/gamma crystallin 'Greek key' 4. sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TGGTGGCCCCGGAAGCCCTCC 0.607 NA 5 72 0 0 0 0 LCK 3932 broad.mit.edu 37 1 32740034 32740034 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:32740034C>T uc001bux.2 + 2 242 c.104C>T c.(103-105)ACG>ATG p.T35M LCK_uc001buy.2_Missense_Mutation_p.T35M|LCK_uc001buz.2_Missense_Mutation_p.T35M|LCK_uc010ohc.1_Missense_Mutation_p.T79M|LCK_uc001bva.2_Missense_Mutation_p.T35M NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 35 Interactions with CD4 and CD8 (By similarity). T -> R (in Ref. 2; AAA59502). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GGCAAGGGCACGGTAAGAGGC 0.532 NA T TRB@ T-ALL 15 45 0 0 0 0 TMEM54 113452 broad.mit.edu 37 1 33363922 33363922 + Splice_Site SNP T T A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:33363922T>A uc001bwi.1 - 2 131 c.17_splice c.e2-1 p.G6_splice TMEM54_uc001bwj.1_Splice_Site_p.G6_splice|TMEM54_uc001bwk.1_Splice_Site_p.G6_splice NM_033504 NP_277039 Q969K7 TMM54_HUMAN transmembrane protein 54 integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCAGGCCTCCTGTGGGGGACA 0.602 NA 15 37 0 0 0 0 PTCH2 8643 broad.mit.edu 37 1 45293182 45293182 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:45293182C>T uc010olf.1 - 15 2275 c.2263G>A c.(2263-2265)GCC>ACC p.A755T PTCH2_uc010olg.1_Missense_Mutation_p.A453T NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 755 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) TCAAAGAGGGCGCGTTGGGAG 0.642 NA Basal_Cell_Nevus_syndrome 12 29 0 0 0 0 TACSTD2 4070 broad.mit.edu 37 1 59042502 59042502 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:59042502G>A uc001cyz.3 - 1 665 c.327C>T c.(325-327)GAC>GAT p.D109D NM_002353 NP_002344 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 109 Extracellular (Potential).|Thyroglobulin type-1. cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity 0 all_cancers(7;6.54e-05) GGCCCTCGGGGTCGCAGTCGG 0.701 NA 4 11 0 0 0 0 PKN2 5586 broad.mit.edu 37 1 89298809 89298809 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:89298809C>T uc001dmn.2 + 21 3062 c.2720C>T c.(2719-2721)GCA>GTA p.A907V PKN2_uc010osp.1_Missense_Mutation_p.A891V|PKN2_uc010osq.1_Missense_Mutation_p.A750V|PKN2_uc009wcv.2_Missense_Mutation_p.A859V|PKN2_uc010osr.1_Missense_Mutation_p.A572V NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 907 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GAGAAAGATGCAGAGGATGTA 0.318 NA 3 24 0 0 0 0 ABCA4 24 broad.mit.edu 37 1 94506793 94506793 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:94506793T>C uc001dqh.2 - 23 3598 c.3494A>G c.(3493-3495)AAC>AGC p.N1165S NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1165 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCTCTGGATGTTTTTCATCTT 0.562 NA 10 53 0 0 0 0 PTPN22 26191 broad.mit.edu 37 1 114397603 114397603 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:114397603G>A uc001eds.2 - 8 739 c.609C>T c.(607-609)GAC>GAT p.D203D uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Silent_p.D203D|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Silent_p.D203D|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Silent_p.D203D NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 203 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) 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) CAAGAATAGGGTCTATAGATG 0.368 NA 29 83 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738746 176738746 + Nonsense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:176738746G>T uc001gkz.2 + 16 5491 c.4327G>T c.(4327-4329)GAA>TAA p.E1443* PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1443 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTTCTAGAAGGAAATTCTGCT 0.453 NA 11 54 1.09e-07 1.2e-07 1 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200818427 200818427 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:200818427C>T uc001gvl.2 + 12 2833 c.2563C>T c.(2563-2565)CCT>TCT p.P855S CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.P844S|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.P828S NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 855 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CATGGAGAATCCTCAAGCCAA 0.413 NA 13 95 0 0 0 0 IPO9 55705 broad.mit.edu 37 1 201817629 201817629 + Missense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:201817629C>A uc001gwz.2 + 4 471 c.421C>A c.(421-423)CCT>ACT p.P141T NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 141 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 CTGGGACTGGCCTGAAGCTTG 0.542 NA 10 46 1.59e-06 1.74e-06 1 0 DISC1 27185 broad.mit.edu 37 1 231829916 231829916 + Missense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:231829916C>A uc001huz.2 + 2 465 c.412C>A c.(412-414)CCT>ACT p.P138T TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.P93T|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.P93T|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.P127T|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.P93T|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.P93T|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.P127T|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.P127T|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.P138T|DISC1_uc010pwp.1_Missense_Mutation_p.P138T|DISC1_uc010pwq.1_Missense_Mutation_p.P138T|DISC1_uc010pwr.1_Missense_Mutation_p.P138T|DISC1_uc010pws.1_Missense_Mutation_p.P138T|DISC1_uc010pwt.1_Missense_Mutation_p.P138T|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.P138T|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.P138T|DISC1_uc010pxb.1_Missense_Mutation_p.P138T|DISC1_uc010pxc.1_Missense_Mutation_p.P138T|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.P138T|DISC1_uc009xfr.2_Missense_Mutation_p.P93T|DISC1_uc010pxf.1_Missense_Mutation_p.P138T|DISC1_uc010pxg.1_Missense_Mutation_p.P138T|DISC1_uc010pxh.1_Missense_Mutation_p.P138T|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.P138T|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.P138T|DISC1_uc010pwm.1_Missense_Mutation_p.P138T|DISC1_uc001hux.1_Missense_Mutation_p.P138T|DISC1_uc001hvc.3_Missense_Mutation_p.P138T|DISC1_uc010pwn.1_Missense_Mutation_p.P138T NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 138 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) GCCGTGTGGCCCTGGGAGTGC 0.612 NA 8 23 0.00448238 0.00461075 1 0 ZNF670 93474 broad.mit.edu 37 1 247201495 247201495 + Silent SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:247201495A>G uc001icd.1 - 4 597 c.426T>C c.(424-426)CAT>CAC p.H142H ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron NM_033213 NP_149990 Q9BS34 ZN670_HUMAN zinc finger protein 670 142 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) ATTGTTTGCAATGATATAACT 0.413 NA 41 140 0 0 0 0 OR2T12 127064 broad.mit.edu 37 1 248458349 248458349 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:248458349C>T uc010pzj.1 - 1 532 c.532G>A c.(532-534)GAG>AAG p.E178K NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ACGGGGGCCTCGCAGAAGAAG 0.567 NA 26 72 0 0 0 0 OR2T4 127074 broad.mit.edu 37 1 248524920 248524920 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:248524920G>T uc001ieh.1 + 1 38 c.38G>T c.(37-39)TGG>TTG p.W13L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CACACTGGATGGTCGGATTTC 0.483 NA 11 47 0.000151284 0.000161395 1 0 OR2G6 391211 broad.mit.edu 37 1 248685642 248685642 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:248685642C>T uc001ien.1 + 1 695 c.695C>T c.(694-696)GCG>GTG p.A232V NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAATCAGCTGCGGGCCGCCAA 0.468 NA 27 70 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108716285 108716285 + Missense_Mutation SNP C C G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr10:108716285C>G uc001kym.2 - 2 620 c.612G>C c.(610-612)GAG>GAC p.E204D SORCS1_uc001kyl.2_Missense_Mutation_p.E204D|SORCS1_uc009xxs.2_Missense_Mutation_p.E204D|SORCS1_uc001kyn.1_Missense_Mutation_p.E204D|SORCS1_uc001kyo.2_Missense_Mutation_p.E204D NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 204 Lumenal (Potential). 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) AAAGCGAGCTCTCTGTGATGC 0.418 NA 17 28 0 0 0 0 BCCIP 56647 broad.mit.edu 37 10 127519144 127519144 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr10:127519144C>T uc001ljb.3 + 4 358 c.335C>T c.(334-336)TCA>TTA p.S112L BCCIP_uc001ljd.3_Missense_Mutation_p.S112L|BCCIP_uc010qui.1_Missense_Mutation_p.S112L|BCCIP_uc001ljc.3_Missense_Mutation_p.S112L|BCCIP_uc010quj.1_Intron NM_078468 NP_510868 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A-interacting protein isoform 112 Interaction with BRCA2. cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding ovary(1)|breast(1) 2 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) ACGGATGTTTCAGAAGACAGC 0.299 NA 15 67 0 0 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080223 57080223 + Nonsense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:57080223C>A uc001njr.2 - 4 2251 c.1939G>T c.(1939-1941)GAG>TAG p.E647* TNKS1BP1_uc001njs.2_Nonsense_Mutation_p.E647*|TNKS1BP1_uc009ymd.1_Nonsense_Mutation_p.E98* NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 647 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GCCTCCTCCTCAACAGGCAGT 0.647 NA 15 31 7.93e-07 8.72e-07 1 0 DAGLA 747 broad.mit.edu 37 11 61505662 61505662 + Nonsense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:61505662C>T uc001nsa.2 + 16 1750 c.1639C>T c.(1639-1641)CGA>TGA p.R547* NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 547 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) TGTCCTGCAGCGAAGCACCAA 0.642 NA 10 39 0 0 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62488775 62488775 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:62488775G>A uc001nuw.2 - 9 1796 c.1603C>T c.(1603-1605)CTT>TTT p.L535F HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 535 cell killing nucleus ATP binding|nucleic acid binding 0 ACCTGATCAAGAATAAAGTTC 0.428 NA 11 295 0 0 0 0 SIPA1 6494 broad.mit.edu 37 11 65417519 65417519 + Nonsense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:65417519G>T uc001ofb.2 + 13 3012 c.2845G>T c.(2845-2847)GAG>TAG p.E949* SIPA1_uc010rom.1_Nonsense_Mutation_p.E847*|SIPA1_uc001ofd.2_Nonsense_Mutation_p.E949* NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 949 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 GCTGTCCCGAGAGGGTGAGGC 0.627 NA 19 49 1.68e-08 1.86e-08 1 0 EXPH5 23086 broad.mit.edu 37 11 108380358 108380358 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:108380358T>C uc001pkk.2 - 6 5987 c.5876A>G c.(5875-5877)TAT>TGT p.Y1959C EXPH5_uc010rvy.1_Missense_Mutation_p.Y1771C|EXPH5_uc010rvz.1_Missense_Mutation_p.Y1803C|EXPH5_uc010rwa.1_Missense_Mutation_p.Y1883C NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1959 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) GTCATCCTCATAGATATTAAG 0.448 NA 47 105 0 0 0 0 OR4D5 219875 broad.mit.edu 37 11 123811134 123811134 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:123811134G>A uc001pzk.1 + 1 811 c.811G>A c.(811-813)GTC>ATC p.V271I NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 271 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGACAAGGCCGTCTCTGTGCT 0.493 NA 29 79 0 0 0 0 ACRBP 84519 broad.mit.edu 37 12 6753641 6753641 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:6753641C>T uc001qpu.1 - 5 654 c.606G>A c.(604-606)GAG>GAA p.E202E ACRBP_uc010sfg.1_Silent_p.E169E NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 202 acrosomal vesicle|extracellular region central_nervous_system(1) 1 CCTGCCTGTGCTCCACTCCTT 0.378 NA 17 78 0 0 0 0 PRB3 5544 broad.mit.edu 37 12 11421068 11421068 + Nonsense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:11421068G>A uc001qzs.2 - 3 153 c.115C>T c.(115-117)CGA>TGA p.R39* PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 39 Pro-rich. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGTGGGCGTCGTCCTTCTGGC 0.547 NA 20 69 0 0 0 0 PRB2 653247 broad.mit.edu 37 12 11545926 11545926 + Silent SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:11545926A>G uc010shk.1 - 3 1121 c.1086T>C c.(1084-1086)CCT>CCC p.P362P NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GCTTTCCTGGAGGAGATCGGG 0.612 NA 81 258 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 13828761 13828761 + Missense_Mutation SNP T T G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:13828761T>G uc001rbt.2 - 4 1222 c.1043A>C c.(1042-1044)AAT>ACT p.N348T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 348 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAGGACAAATTCCTCCCCTC 0.408 NA 21 80 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40681270 40681270 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:40681270A>T uc001rmg.3 + 20 2739 c.2618A>T c.(2617-2619)GAT>GTT p.D873V LRRK2_uc001rmh.1_Missense_Mutation_p.D495V NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 873 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCTAAATTTGATGAATGGACC 0.383 NA 6 61 0 0 0 0 SCYL2 55681 broad.mit.edu 37 12 100728042 100728042 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:100728042G>A uc001thn.2 + 14 1910 c.1860G>A c.(1858-1860)CAG>CAA p.Q620Q SCYL2_uc001thm.1_Silent_p.Q620Q NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 620 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 AAGAACAGCAGAAGTAAGTAG 0.338 NA 20 55 0 0 0 0 CIT 11113 broad.mit.edu 37 12 120214570 120214570 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:120214570C>T uc001txi.1 - 14 1795 c.1742G>A c.(1741-1743)CGG>CAG p.R581Q CIT_uc001txh.1_Missense_Mutation_p.R115Q|CIT_uc001txj.1_Missense_Mutation_p.R581Q NM_007174 NP_009105 O14578 CTRO_HUMAN citron 581 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GAGATCACTCCGTCTTCTTGC 0.448 NA 32 63 0 0 0 0 HNF1A 6927 broad.mit.edu 37 12 121432043 121432043 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:121432043G>A uc001tzg.2 + 4 813 c.790G>A c.(790-792)GTC>ATC p.V264I HNF1A_uc001tze.1_Missense_Mutation_p.V264I|HNF1A_uc001tzf.2_Missense_Mutation_p.V264I|HNF1A_uc010szn.1_Missense_Mutation_p.V264I NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 264 Homeobox; HNF1-type.|Interaction with DNA. glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGAGGTGCGTGTCTACAACTG 0.647 NA Hepatic_Adenoma_Familial_Clustering_of 5 10 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 28880897 28880897 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr13:28880897C>T uc001usb.3 - 29 4018 c.3733G>A c.(3733-3735)GAC>AAC p.D1245N FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1245 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTGCTGCTGTCGCCCTGGTAG 0.552 NA 12 52 0 0 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33091954 33091954 + Silent SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr13:33091954G>T uc001uuk.3 - 6 1915 c.1737C>A c.(1735-1737)GTC>GTA p.V579V N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 579 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GATTATTTGTGACACAGACAC 0.413 NA 10 48 0.00829132 0.00848826 1 0 OLFM4 10562 broad.mit.edu 37 13 53616150 53616150 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr13:53616150G>T uc001vhl.2 + 3 463 c.463G>T c.(463-465)GAC>TAC p.D155Y OLFM4_uc001vhk.1_Missense_Mutation_p.D155Y NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 155 Potential. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) CACTGAACTGGACTTCGAGCT 0.403 NA 20 70 5.26e-13 5.92e-13 1 0 GPC5 2262 broad.mit.edu 37 13 92560274 92560274 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr13:92560274T>C uc010tif.1 + 6 1730 c.1364T>C c.(1363-1365)ATA>ACA p.I455T NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 455 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GATCCTGTGATAAATCAGATT 0.358 NA 19 27 0 0 0 0 PTGER2 5732 broad.mit.edu 37 14 52794093 52794093 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:52794093G>A uc001wzr.2 + 2 1249 c.998G>A c.(997-999)CGG>CAG p.R333Q NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 333 Cytoplasmic (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CTCTGTTGTCGGATTTCATTA 0.408 NA 15 90 0 0 0 0 C14orf102 55051 broad.mit.edu 37 14 90798195 90798195 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:90798195G>T uc001xyi.1 - 1 85 c.54C>A c.(52-54)AGC>AGA p.S18R C14orf102_uc001xyj.1_5'UTR NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 18 protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) CTTTCCTGGAGCTCCCGCCAT 0.592 NA 9 124 0.00448238 0.00461075 1 0 LGMN 5641 broad.mit.edu 37 14 93176022 93176022 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:93176022G>A uc001yav.2 - 12 1341 c.1015C>T c.(1015-1017)CTG>TTG p.L339L LGMN_uc001yat.2_Silent_p.L339L|LGMN_uc001yau.2_Silent_p.L339L|LGMN_uc001yaw.2_Silent_p.L339L|LGMN_uc010aul.2_Silent_p.L220L|LGMN_uc001yax.2_Silent_p.L339L|LGMN_uc001yay.2_Silent_p.L339L NM_001008530 NP_001008530 Q99538 LGMN_HUMAN legumain preproprotein 339 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity skin(1) 1 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) CTCACATCCAGATGCCGCTGG 0.592 NA 37 112 0 0 0 0 C14orf129 51527 broad.mit.edu 37 14 96851862 96851862 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:96851862G>A uc001yfj.3 + 4 406 c.261G>A c.(259-261)GTG>GTA p.V87V C14orf129_uc001yfl.2_Silent_p.V87V NM_016472 NP_057556 Q9P0R6 GSKIP_HUMAN chromosome 14 open reading frame 129 87 cytoplasm protein binding 0 Melanoma(154;0.226) Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205) TCTTGTAGGTGGTAGGCTATG 0.398 NA 44 93 0 0 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559465 20559465 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr16:20559465C>T uc002dhj.3 - 9 1227 c.1017G>A c.(1015-1017)GAG>GAA p.E339E ACSM2B_uc002dhk.3_Silent_p.E339E|ACSM2B_uc010bwf.1_Silent_p.E339E NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 339 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 GAAGAAGGGACTCCCCTCCAG 0.527 NA 42 120 0 0 0 0 TUBB3 10381 broad.mit.edu 37 16 89986164 89986164 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr16:89986164G>A uc002fpf.2 + 1 906 c.498G>A c.(496-498)GCG>GCA p.A166A MC1R_uc002fpe.3_Silent_p.A166A|TUBB3_uc010ciz.1_5'Flank NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 Error:Variant_position_missing_in_Q13509_after_alignment 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GAGCCGTTGCGGCCATCTGGG 0.647 NA 13 50 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7576852 7576852 + Splice_Site SNP C C T rs11575997 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:7576852C>T uc002gim.2 - 9 1187 c.993_splice c.e9+1 p.Q331_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.Q331_splice|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site_p.Q199_splice|TP53_uc010cng.1_Splice_Site_p.Q199_splice|TP53_uc002gii.1_Splice_Site_p.Q199_splice|TP53_uc010cnh.1_Splice_Site_p.Q331_splice|TP53_uc010cni.1_Splice_Site_p.Q331_splice|TP53_uc002gij.2_Splice_Site_p.Q331_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(16)|p.0?(7)|p.I332fs*49(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) AGACTTAGTACCTGAAGGGTG 0.458 111 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) 37 50 0 0 0 0 TEKT3 64518 broad.mit.edu 37 17 15231310 15231310 + Missense_Mutation SNP G G A rs143165525 byFrequency TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:15231310G>A uc002gon.2 - 4 849 c.662C>T c.(661-663)ACG>ATG p.T221M NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 221 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CACATTTACCGTCAGCAGTTG 0.383 NA 27 89 0 0 0 0 C17orf63 55731 broad.mit.edu 37 17 27086837 27086837 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:27086837G>A uc002hct.1 - 3 407 c.140C>T c.(139-141)GCG>GTG p.A47V C17orf63_uc010wax.1_Missense_Mutation_p.A47V|C17orf63_uc010way.1_Missense_Mutation_p.A47V|C17orf63_uc002hcw.2_Intron NM_018182 NP_060652 Q8WU58 CQ063_HUMAN hypothetical protein LOC55731 47 ovary(1) 1 all_epithelial(6;5.06e-20)|Lung NSC(42;0.01) Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104) CTTAGCATACGCATCCAATTC 0.393 NA 3 12 0 0 0 0 ACACA 31 broad.mit.edu 37 17 35600294 35600294 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:35600294C>T uc002hnm.2 - 22 3004 c.2813G>A c.(2812-2814)AGC>AAC p.S938N ACACA_uc002hnk.2_Missense_Mutation_p.S860N|ACACA_uc002hnl.2_Missense_Mutation_p.S880N|ACACA_uc002hnn.2_Missense_Mutation_p.S938N|ACACA_uc002hno.2_Missense_Mutation_p.S975N|ACACA_uc010cuz.2_Missense_Mutation_p.S938N NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 938 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TACCTGCTGGCTGGGAAACTG 0.428 NA 18 144 0 0 0 0 MAPT 4137 broad.mit.edu 37 17 44060805 44060805 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:44060805C>T uc002ijr.3 + 6 955 c.635C>T c.(634-636)CCG>CTG p.P212L MAPT_uc010dau.2_Missense_Mutation_p.P212L|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 212 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) AAAGAGAGGCCGGGGAGCAAG 0.692 NA 6 18 0 0 0 0 BRIP1 83990 broad.mit.edu 37 17 59821801 59821801 + Missense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:59821801C>A uc002izk.1 - 15 2390 c.2249G>T c.(2248-2250)GGA>GTA p.G750V BRIP1_uc002izl.1_Missense_Mutation_p.G131V NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 750 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 ACCTTTCTCTCCTTTGTATTT 0.308 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 33 115 2.29e-25 2.59e-25 1 0 HELZ 9931 broad.mit.edu 37 17 65104673 65104673 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:65104673C>T uc010wqk.1 - 30 4849 c.4662G>A c.(4660-4662)CCG>CCA p.P1554P HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.P1553P|HELZ_uc010der.2_Silent_p.P97P NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CCCTCACTGGCGGCTGATGTA 0.562 NA 11 58 0 0 0 0 ITGB4 3691 broad.mit.edu 37 17 73725497 73725497 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:73725497C>T uc002jpg.2 + 7 905 c.718C>T c.(718-720)CTG>TTG p.L240L ITGB4_uc002jph.2_Silent_p.L240L|ITGB4_uc010dgo.2_Silent_p.L240L|ITGB4_uc002jpi.3_Silent_p.L240L|ITGB4_uc010dgp.1_Silent_p.L240L|ITGB4_uc002jpj.2_Silent_p.L240L|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 240 VWFA.|Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGATGCCATCCTGCAGACAGC 0.622 NA 10 38 0 0 0 0 HRH4 59340 broad.mit.edu 37 18 22056762 22056762 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr18:22056762G>A uc002kvi.2 + 3 509 c.409G>A c.(409-411)GTG>ATG p.V137M HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Intron NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 137 Helical; Name=4; (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TACTCTGATGGTGGCCGTTTG 0.388 NA 28 81 0 0 0 0 PMAIP1 5366 broad.mit.edu 37 18 57569917 57569917 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr18:57569917G>A uc002lic.2 + 2 315 c.97G>A c.(97-99)GGA>AGA p.G33R PMAIP1_uc002lid.2_Nonsense_Mutation_p.W83* NM_021127 NP_066950 Q13794 APR_HUMAN phorbol-12-myristate-13-acetate-induced protein 33 BH3. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis cytosol|mitochondrial outer membrane|nucleus protein binding 0 Colorectal(73;0.0946) CAGGAGATTTGGAGACAAACT 0.433 NA 23 49 0 0 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054997 4054997 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:4054997G>C uc002lzh.2 - 2 309 c.234C>G c.(232-234)GAC>GAG p.D78E ZBTB7A_uc002lzi.2_Missense_Mutation_p.D78E NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 78 BTB. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CGCTGACGAAGTCGATCTCGT 0.662 NA 5 35 0 0 0 0 TRIP10 9322 broad.mit.edu 37 19 6749986 6749986 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:6749986C>T uc002mfs.2 + 12 1370 c.1304C>T c.(1303-1305)CCT>CTT p.P435L TRIP10_uc010dux.1_Missense_Mutation_p.P379L|TRIP10_uc002mfr.2_Missense_Mutation_p.P379L|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.P198L NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 435 Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 GAGAAGACACCTCAGATGGGG 0.468 NA 32 103 0 0 0 0 SMARCA4 6597 broad.mit.edu 37 19 11134270 11134270 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:11134270G>A uc002mqf.3 + 20 3220 c.2936G>A c.(2935-2937)CGA>CAA p.R979Q SMARCA4_uc010dxp.2_Missense_Mutation_p.R979Q|SMARCA4_uc010dxo.2_Missense_Mutation_p.R979Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.R979Q|SMARCA4_uc010dxq.2_Missense_Mutation_p.R979Q|SMARCA4_uc010dxr.2_Missense_Mutation_p.R979Q|SMARCA4_uc002mqj.3_Missense_Mutation_p.R979Q|SMARCA4_uc010dxs.2_Missense_Mutation_p.R979Q|SMARCA4_uc010dxt.1_Missense_Mutation_p.R199Q|SMARCA4_uc002mqh.3_Missense_Mutation_p.R102Q|SMARCA4_uc002mqi.1_Missense_Mutation_p.R182Q NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 979 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTGCTCCGACGACTCAAGAAG 0.577 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 8 17 0 0 0 0 CCDC151 115948 broad.mit.edu 37 19 11537572 11537572 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:11537572C>T uc002mrs.2 - 5 788 c.645G>A c.(643-645)AAG>AAA p.K215K CCDC151_uc002mrr.2_Silent_p.K150K|CCDC151_uc010dxz.2_Intron NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 215 Potential. ovary(1) 1 TCATCTGGGCCTTCTCCAGGC 0.627 NA 7 25 0 0 0 0 DDX39 10212 broad.mit.edu 37 19 14521049 14521049 + Silent SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:14521049C>A uc010xnp.1 - 6 756 c.711G>T c.(709-711)GTG>GTT p.V237V DDX39_uc002myo.2_Silent_p.V237V|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Silent_p.V237V NM_005804 NP_005795 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 237 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding 0 ACTTCCTGCACACAGGCCGGA 0.632 NA 14 52 6.72e-11 7.53e-11 1 0 ABHD8 79575 broad.mit.edu 37 19 17411760 17411760 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:17411760G>A uc002ngb.3 - 2 906 c.666C>T c.(664-666)GCC>GCT p.A222A NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 222 hydrolase activity 0 TGTAGGCTGCGGCCACCTGGG 0.602 NA 5 90 0 0 0 0 FXYD5 53827 broad.mit.edu 37 19 35657174 35657174 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:35657174C>T uc002nyg.1 + 8 519 c.433C>T c.(433-435)CGG>TGG p.R145W FXYD5_uc010xsq.1_Missense_Mutation_p.R145W|FXYD5_uc002nyh.1_Missense_Mutation_p.R145W|FXYD5_uc002nyi.1_Missense_Mutation_p.R82W|FXYD5_uc002nyj.1_5'Flank NM_014164 NP_054883 Q96DB9 FXYD5_HUMAN FXYD domain-containing ion transport regulator 5 145 Extracellular (Potential). microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity 0 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCTCCGGAAACGGGGGCTGTT 0.552 NA 33 205 0 0 0 0 ZNF461 92283 broad.mit.edu 37 19 37129598 37129598 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:37129598A>T uc002oem.2 - 6 1877 c.1649T>A c.(1648-1650)GTC>GAC p.V550D ZNF461_uc002oen.2_Missense_Mutation_p.V519D|ZNF461_uc010xtj.1_Missense_Mutation_p.V527D NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGGAAACCTGACTGGCTTCTC 0.378 NA 4 13 0 0 0 0 LIPE 3991 broad.mit.edu 37 19 42930494 42930494 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:42930494C>T uc002otr.2 - 1 1085 c.808G>A c.(808-810)GTG>ATG p.V270M uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 270 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) CCTGACATCACTTTATAACCA 0.488 NA 28 120 0 0 0 0 TRAPPC6A 79090 broad.mit.edu 37 19 45681404 45681404 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:45681404G>T uc002paw.2 - 1 92 c.73C>A c.(73-75)CCC>ACC p.P25T TRAPPC6A_uc002pav.2_Missense_Mutation_p.P25T|BLOC1S3_uc002pax.3_5'Flank O75865 TPC6A_HUMAN SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a; 25 vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding 0 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233) CCCGGGCCGGGGTCGGGGTCG 0.612 NA 7 22 0.00448238 0.00461075 1 0 SNRPD2 6633 broad.mit.edu 37 19 46191786 46191786 + Missense_Mutation SNP T T G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:46191786T>G uc002pcw.2 - 2 338 c.41A>C c.(40-42)GAG>GCG p.E14A SNRPD2_uc002pcv.2_Missense_Mutation_p.E4A NM_004597 NP_004588 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 isoform 1 14 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) CTGCAGCTCCTCTGGGGTCAT 0.532 NA 16 134 0 0 0 0 SCAF1 58506 broad.mit.edu 37 19 50157990 50157990 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:50157990C>T uc002poq.2 + 9 3605 c.3481C>T c.(3481-3483)CCC>TCC p.P1161S NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1161 mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GCCCCCTGGCCCCTCCAGCTA 0.672 NA 7 99 0 0 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919567 51919567 + Missense_Mutation SNP G G A rs147122969 byFrequency TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:51919567G>A uc002pwo.2 - 4 1367 c.751C>T c.(751-753)CCA>TCA p.P251S SIGLEC10_uc002pwp.2_Missense_Mutation_p.P193S|SIGLEC10_uc002pwq.2_Missense_Mutation_p.P193S|SIGLEC10_uc002pwr.2_Missense_Mutation_p.P251S|SIGLEC10_uc010ycy.1_Missense_Mutation_p.P251S|SIGLEC10_uc010ycz.1_Missense_Mutation_p.P203S|SIGLEC10_uc010eow.2_Silent_p.R15R|SIGLEC10_uc002pws.1_Missense_Mutation_p.P177S NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 251 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TCAGTACCTGGCGTGTTGTCA 0.483 NA 6 136 0 0 0 0 LILRA4 23547 broad.mit.edu 37 19 54848719 54848719 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:54848719A>G uc002qfj.2 - 5 961 c.904T>C c.(904-906)TCC>CCC p.S302P LILRA4_uc002qfi.2_Missense_Mutation_p.S236P NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 302 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CACTCGGAGGAGACGTTGTGT 0.682 NA 8 31 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15415841 15415841 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:15415841G>A uc002rcc.1 - 44 5517 c.5491C>T c.(5491-5493)CCC>TCC p.P1831S NBAS_uc010exl.1_Missense_Mutation_p.P903S|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1831 ovary(2)|liver(1)|skin(1) 4 GGGATTTTGGGAACAAGTTTG 0.403 NA 9 58 0 0 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697544 17697544 + Silent SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:17697544A>G uc002rcl.1 - 1 2163 c.2139T>C c.(2137-2139)TGT>TGC p.C713C RAD51AP2_uc010exn.1_Silent_p.C704C NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 713 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTGTTGAGGACAACTCATAT 0.323 NA 6 66 0 0 0 0 LYG2 254773 broad.mit.edu 37 2 99863255 99863255 + Missense_Mutation SNP A A C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:99863255A>C uc002szw.1 - 3 185 c.72T>G c.(70-72)AGT>AGG p.S24R MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.S24R|LYG2_uc002szx.1_Missense_Mutation_p.S24R NM_175735 NP_783862 Q86SG7 LYG2_HUMAN lysozyme G-like 2 precursor 24 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity ovary(1) 1 TCATTGAGTGACTGAAGGGGT 0.502 NA 21 74 0 0 0 0 EIF5B 9669 broad.mit.edu 37 2 100011184 100011184 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:100011184A>G uc002tab.2 + 21 3276 c.3092A>G c.(3091-3093)TAT>TGT p.Y1031C EIF5B_uc010yvq.1_Missense_Mutation_p.Y13C NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 1031 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 CCTTTTAGGTATGCAGTAATT 0.338 NA 24 102 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098945 178098945 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:178098945G>C uc002ulh.3 - 2 655 c.100C>G c.(100-102)CGA>GGA p.R34G NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 34 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AATACTTCTCGACTTACTCCA 0.368 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 20 41 0 0 0 0 RTEL1 51750 broad.mit.edu 37 20 62326202 62326202 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr20:62326202C>T uc002yfu.1 + 32 3561 c.3218C>T c.(3217-3219)TCC>TTC p.S1073F RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.S1073F|RTEL1_uc011abd.1_Missense_Mutation_p.S1097F|RTEL1_uc011abe.1_Missense_Mutation_p.S850F|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.S318F|TNFRSF6B_uc002yfy.2_5'Flank|TNFRSF6B_uc002yfz.2_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 1073 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCCCTGGGGTCCGCGGGCTGT 0.662 NA 5 52 0 0 0 0 BRWD1 54014 broad.mit.edu 37 21 40650700 40650700 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr21:40650700G>A uc002yxk.1 - 10 1111 c.972C>T c.(970-972)GGC>GGT p.G324G BRWD1_uc002yxl.2_Silent_p.G324G|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Silent_p.G44G NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 324 WD 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GCATTTGAACGCCTGGCCTAG 0.333 NA 33 79 0 0 0 0 HHATL 57467 broad.mit.edu 37 3 42739102 42739102 + Missense_Mutation SNP C C T rs140686107 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:42739102C>T uc003clw.2 - 8 910 c.763G>A c.(763-765)GTG>ATG p.V255M HHATL_uc003clx.2_Missense_Mutation_p.V255M NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 255 Helical; (Potential). negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) ATGGCCACCACGCTTAGGCCT 0.612 NA 9 69 0 0 0 0 ZIC4 84107 broad.mit.edu 37 3 147114119 147114119 + Missense_Mutation SNP C C G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:147114119C>G uc003ewd.1 - 3 481 c.208G>C c.(208-210)GAC>CAC p.D70H ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.D120H NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 70 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GCGTACATGTCTCCAGGGAGC 0.726 NA 7 11 0 0 0 0 KLHL24 54800 broad.mit.edu 37 3 183381264 183381264 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:183381264G>A uc003flv.2 + 4 1234 c.939G>A c.(937-939)GAG>GAA p.E313E KLHL24_uc003flw.2_Silent_p.E313E|KLHL24_uc003flx.2_Silent_p.E313E NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 313 axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GCTATTCTGAGGTGATAGTTG 0.333 NA 32 83 0 0 0 0 TNK2 10188 broad.mit.edu 37 3 195595233 195595233 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:195595233G>C uc003fvu.1 - 12 2434 c.1891C>G c.(1891-1893)CCC>GCC p.P631A TNK2_uc003fvq.1_Missense_Mutation_p.P38A|TNK2_uc003fvr.1_Missense_Mutation_p.P156A|TNK2_uc003fvs.1_Missense_Mutation_p.P663A|TNK2_uc003fvt.1_Missense_Mutation_p.P709A|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 631 Required for interaction with SRC.|Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GCGGGCGGGGGGGGCAGCGGG 0.726 NA 7 33 0 0 0 0 SH3TC1 54436 broad.mit.edu 37 4 8224685 8224685 + Missense_Mutation SNP G G T rs148540586 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr4:8224685G>T uc003gkv.3 + 10 1332 c.1231G>T c.(1231-1233)GTG>TTG p.V411L SH3TC1_uc003gkw.3_Missense_Mutation_p.V335L|SH3TC1_uc003gkx.3_RNA NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 411 binding large_intestine(2)|pancreas(1) 3 TGTCTGCAGCGTGTACAGCCT 0.602 NA 6 21 0.00198382 0.0020603 1 0 NPFFR2 10886 broad.mit.edu 37 4 73012967 73012967 + Missense_Mutation SNP T T A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr4:73012967T>A uc003hgg.2 + 4 1105 c.1007T>A c.(1006-1008)CTC>CAC p.L336H NPFFR2_uc010iig.1_Missense_Mutation_p.L118H|NPFFR2_uc003hgi.2_Missense_Mutation_p.L237H|NPFFR2_uc003hgh.2_Missense_Mutation_p.L234H|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 336 Helical; Name=5; (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) CCCCTCTCCCTCATTGTCATC 0.527 NA 16 36 0 0 0 0 HPSE 10855 broad.mit.edu 37 4 84216583 84216583 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr4:84216583G>C uc003hoj.3 - 12 1645 c.1546C>G c.(1546-1548)CTC>GTC p.L516V uc003hoi.2_5'Flank|HPSE_uc010ika.2_Missense_Mutation_p.L458V|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.L259V|HPSE_uc011cct.1_Missense_Mutation_p.L442V|HPSE_uc003hok.3_Missense_Mutation_p.L516V NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 516 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CCTGGCCGGAGAGGTTTTTCC 0.403 NA 11 69 0 0 0 0 FSTL5 56884 broad.mit.edu 37 4 162463813 162463813 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr4:162463813G>T uc003iqh.2 - 9 1484 c.1048C>A c.(1048-1050)CAG>AAG p.Q350K FSTL5_uc003iqi.2_Missense_Mutation_p.Q349K|FSTL5_uc010iqv.2_Missense_Mutation_p.Q349K NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 350 Ig-like 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCTCTAGCCTGACTCTCTGGA 0.418 NA 10 58 9.05e-12 1.02e-11 1 0 MYO10 4651 broad.mit.edu 37 5 16674967 16674967 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:16674967C>T uc003jft.3 - 35 5427 c.4959G>A c.(4957-4959)CTG>CTA p.L1653L MYO10_uc011cnb.1_Silent_p.L282L|MYO10_uc011cnc.1_Silent_p.L532L|MYO10_uc011cnd.1_Silent_p.L1010L|MYO10_uc011cne.1_Silent_p.L1010L|MYO10_uc010itx.2_Silent_p.L1275L NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1653 MyTH4. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TTTACCTTTTCAGATGGAACT 0.547 NA 15 135 0 0 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255327 140255327 + Silent SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:140255327C>A uc003lic.2 + 1 397 c.270C>A c.(268-270)ATC>ATA p.I90I 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_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.I90I NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 90 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGCGAGA 0.597 NA 29 226 4.75e-14 5.37e-14 1 0 FAT2 2196 broad.mit.edu 37 5 150922100 150922100 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:150922100A>G uc003lue.3 - 9 8601 c.8588T>C c.(8587-8589)CTT>CCT p.L2863P GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2863 Extracellular (Potential).|Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCACAGTCAAGTTCCTGGAG 0.532 NA 10 79 0 0 0 0 LARP1 23367 broad.mit.edu 37 5 154183811 154183811 + Silent SNP C C T rs140378046 byFrequency TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:154183811C>T uc003lvp.2 + 14 2919 c.2490C>T c.(2488-2490)AGC>AGT p.S830S LARP1_uc003lvo.2_Silent_p.S753S NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 830 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCTTGGAGAGCCATGTGGGCT 0.537 NA 6 128 0 0 0 0 CNOT8 9337 broad.mit.edu 37 5 154250226 154250226 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:154250226A>G uc003lvu.2 + 5 796 c.317A>G c.(316-318)GAC>GGC p.D106G CNOT8_uc011ddf.1_5'UTR|CNOT8_uc011ddg.1_5'UTR|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.D106G|CNOT8_uc010jig.2_5'UTR|CNOT8_uc010jif.2_5'UTR|CNOT8_uc003lvw.2_Missense_Mutation_p.D106G|CNOT8_uc011ddi.1_5'UTR|CNOT8_uc011ddj.1_Intron NM_004779 NP_004770 Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 106 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTTAGAGAGGACATGTACTCC 0.393 NA Direct_reversal_of_damage 22 80 0 0 0 0 ACOT13 55856 broad.mit.edu 37 6 24667534 24667534 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:24667534A>G uc003nek.2 + 1 272 c.43A>G c.(43-45)ATG>GTG p.M15V TDP2_uc003nei.2_5'Flank|TDP2_uc003nej.2_5'Flank|TDP2_uc010jpu.1_5'Flank|ACOT13_uc010jpv.2_5'UTR NM_018473 NP_060943 Q9NPJ3 ACO13_HUMAN acyl-CoA thioesterase 13 isoform 1 15 protein homotetramerization mitochondrion acyl-CoA thioesterase activity 0 GATAAAGGCCATGACCAAGGC 0.512 NA OREG0017230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 23 0 0 0 0 RUNX2 860 broad.mit.edu 37 6 45459775 45459775 + Silent SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:45459775C>A uc011dvx.1 + 6 993 c.783C>A c.(781-783)GTC>GTA p.V261V RUNX2_uc011dvy.1_Silent_p.V261V|RUNX2_uc003oxt.2_Silent_p.V247V NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 261 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 GAGTAGGTGTCCCGCCTCAGA 0.502 NA 14 128 1.05e-09 1.17e-09 1 0 KHDRBS2 202559 broad.mit.edu 37 6 62390900 62390900 + Missense_Mutation SNP C C G rs139583671 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:62390900C>G uc003peg.2 - 9 1265 c.1018G>C c.(1018-1020)GGA>CGA p.G340R NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TCCCTGTATCCCCCTCTGGCT 0.493 NA 13 45 0 0 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128089 117128089 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:117128089C>T uc003pxj.1 - 3 801 c.779G>A c.(778-780)CGG>CAG p.R260Q GPRC6A_uc003pxk.1_Missense_Mutation_p.R260Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R260Q NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 260 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CTTCAGTGTCCGATTGATTCT 0.363 NA 11 77 0 0 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123130244 123130244 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:123130244G>T uc003pzg.2 + 8 1574 c.1053G>T c.(1051-1053)TTG>TTT p.L351F SMPDL3A_uc003pzh.2_Missense_Mutation_p.L220F NM_006714 NP_006705 Q92484 ASM3A_HUMAN acid sphingomyelinase-like phosphodiesterase 3A 351 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity 0 GBM - Glioblastoma multiforme(226;0.236) AGGATATGTTGCAGTATTACT 0.413 NA 15 81 8.6e-14 9.71e-14 1 0 ECT2L 345930 broad.mit.edu 37 6 139206872 139206872 + Missense_Mutation SNP G G A rs79865247 byFrequency TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:139206872G>A uc003qif.1 + 16 2267 c.2164G>A c.(2164-2166)GCT>ACT p.A722T ECT2L_uc011edq.1_Intron NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 722 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 TCTTCTCTACGCTGTCAGGCT 0.468 NA 17 40 0 0 0 0 MYCT1 80177 broad.mit.edu 37 6 153043080 153043080 + Nonsense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:153043080C>T uc003qpd.3 + 2 408 c.400C>T c.(400-402)CGA>TGA p.R134* MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Nonsense_Mutation_p.R134* NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 134 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CTGTGAACGTCGAAGCAACCT 0.498 NA 26 100 0 0 0 0 MAS1 4142 broad.mit.edu 37 6 160328742 160328742 + Missense_Mutation SNP A A G rs147267209 byFrequency TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:160328742A>G uc003qsz.2 + 1 769 c.755A>G c.(754-756)TAT>TGT p.Y252C NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 252 Extracellular (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) CTGCTGTACTATGAGTATTGG 0.458 NA 5 87 0 0 0 0 DDC 1644 broad.mit.edu 37 7 50611624 50611624 + Nonsense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:50611624C>A uc003tpf.3 - 2 246 c.160G>T c.(160-162)GAG>TAG p.E54* DDC_uc010kza.2_Nonsense_Mutation_p.E54*|DDC_uc003tpg.3_Nonsense_Mutation_p.E54* NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 54 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) ATGATGTCCTCAAACGTGTCT 0.562 NA 43 94 8.01e-26 9.11e-26 1 0 STEAP2 261729 broad.mit.edu 37 7 89861767 89861767 + Silent SNP T T G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:89861767T>G uc003ujz.2 + 5 1695 c.1302T>G c.(1300-1302)CTT>CTG p.L434L STEAP2_uc010len.2_Silent_p.L434L|STEAP2_uc003uka.2_Silent_p.L434L|STEAP2_uc003ukb.2_Silent_p.L434L|STEAP2_uc003ukc.2_Intron|STEAP2_uc003ukd.2_Silent_p.L434L NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 434 Helical; (Potential). electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) ACTTTGTTCTTGCTCTTGTTT 0.353 NA 14 31 0 0 0 0 SRRT 51593 broad.mit.edu 37 7 100479790 100479790 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:100479790A>G uc003uwy.2 + 6 783 c.515A>G c.(514-516)TAT>TGT p.Y172C SRRT_uc010lhl.1_Missense_Mutation_p.Y172C|SRRT_uc003uxa.2_Missense_Mutation_p.Y172C|SRRT_uc003uwz.2_Missense_Mutation_p.Y172C NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 172 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GTCAAGCGCTATAATGACTAC 0.557 NA 12 67 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151875040 151875040 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:151875040C>T uc003wla.2 - 38 7717 c.7498G>A c.(7498-7500)GTG>ATG p.V2500M MLL3_uc003wkz.2_Missense_Mutation_p.V1561M|MLL3_uc003wky.2_Missense_Mutation_p.V9M NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2500 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGAGGAGGCACAAGGAAGCGC 0.363 NA N medulloblastoma 12 106 0 0 0 0 HTR5A 3361 broad.mit.edu 37 7 154863042 154863042 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:154863042C>T uc003wlu.1 + 1 497 c.433C>T c.(433-435)CGC>TGC p.R145C uc011kvt.1_5'UTR|uc003wlt.2_5'UTR NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 145 Cytoplasmic (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GTCCATCACGCGCCACATGGA 0.632 NA 7 30 0 0 0 0 ST18 9705 broad.mit.edu 37 8 53062328 53062328 + Nonsense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:53062328A>T uc003xqz.2 - 11 2172 c.2016T>A c.(2014-2016)TAT>TAA p.Y672* ST18_uc011ldq.1_Nonsense_Mutation_p.Y319*|ST18_uc011ldr.1_Nonsense_Mutation_p.Y637*|ST18_uc011lds.1_Nonsense_Mutation_p.Y577*|ST18_uc003xra.2_Nonsense_Mutation_p.Y672*|ST18_uc003xrb.2_Nonsense_Mutation_p.Y672* NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 672 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GAGTTTTGCTATAGTTGATAG 0.443 NA 9 52 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764890 77764890 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:77764890G>A uc003yav.2 + 10 5985 c.5598G>A c.(5596-5598)GCG>GCA p.A1866A ZFHX4_uc003yau.1_Silent_p.A1911A|ZFHX4_uc003yaw.1_Silent_p.A1866A NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1866 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGCCAAAGCGTTATTGGAAA 0.453 NA HNSCC(33;0.089) 4 26 0 0 0 0 SLC26A7 115111 broad.mit.edu 37 8 92365191 92365191 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:92365191A>T uc003yex.2 + 12 1559 c.1281A>T c.(1279-1281)TTA>TTT p.L427F SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.L427F|SLC26A7_uc003yfa.2_Missense_Mutation_p.L427F NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 427 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) TCCGAGATTTAAAAAAATATT 0.328 NA 11 106 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100287445 100287445 + Missense_Mutation SNP C C G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:100287445C>G uc003yiv.2 + 19 2898 c.2787C>G c.(2785-2787)ATC>ATG p.I929M VPS13B_uc003yiw.2_Missense_Mutation_p.I929M|VPS13B_uc003yiu.1_Missense_Mutation_p.I929M|VPS13B_uc003yix.1_Missense_Mutation_p.I400M NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 929 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCTTCACAATCCAAGTTCCAC 0.398 NA 13 186 0 0 0 0 SLC25A32 81034 broad.mit.edu 37 8 104419953 104419953 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:104419953T>C uc003yll.2 - 2 517 c.214A>G c.(214-216)ATT>GTT p.I72V SLC25A32_uc011lhr.1_5'UTR NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 72 Solcar 1. folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) AGTTTCCAAATGGTAGTCAAG 0.408 NA 18 167 0 0 0 0 LRP12 29967 broad.mit.edu 37 8 105509897 105509897 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:105509897G>T uc003yma.2 - 5 978 c.883C>A c.(883-885)CGT>AGT p.R295S LRP12_uc003ymb.2_Missense_Mutation_p.R276S|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 295 Extracellular (Potential).|CUB 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATGACTTTACGGTGATCACCA 0.358 NA 8 69 0.000157383 0.000167487 1 0 ADCY8 114 broad.mit.edu 37 8 131922053 131922053 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:131922053G>A uc003ytd.3 - 6 1797 c.1541C>T c.(1540-1542)TCG>TTG p.S514L ADCY8_uc010mds.2_Missense_Mutation_p.S514L NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 514 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCACAGCACCGAGCCGGAGTG 0.478 NA HNSCC(32;0.087) 12 142 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 145001198 145001198 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:145001198A>T uc003zaf.1 - 29 4473 c.4303T>A c.(4303-4305)TCC>ACC p.S1435T PLEC_uc003zab.1_Missense_Mutation_p.S1298T|PLEC_uc003zac.1_Missense_Mutation_p.S1302T|PLEC_uc003zad.2_Missense_Mutation_p.S1298T|PLEC_uc003zae.1_Missense_Mutation_p.S1266T|PLEC_uc003zag.1_Missense_Mutation_p.S1276T|PLEC_uc003zah.2_Missense_Mutation_p.S1284T|PLEC_uc003zaj.2_Missense_Mutation_p.S1325T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1435 Globular 1. 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 TTGGCCGGGGAGGCCACCGGC 0.642 NA 9 39 0 0 0 0 GLDC 2731 broad.mit.edu 37 9 6587232 6587232 + Nonsense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr9:6587232G>A uc003zkc.2 - 15 1952 c.1759C>T c.(1759-1761)CAA>TAA p.Q587* NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 587 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCTTGAGCTTGATCCAGAGGC 0.393 NA 32 54 0 0 0 0 ECM2 1842 broad.mit.edu 37 9 95280053 95280053 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr9:95280053A>T uc004ash.2 - 3 462 c.397T>A c.(397-399)TGT>AGT p.C133S CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.C133S|ECM2_uc011lty.1_Missense_Mutation_p.C133S|ECM2_uc004asg.2_Missense_Mutation_p.C133S|ECM2_uc011ltz.1_Missense_Mutation_p.C133S|ECM2_uc004asi.2_Missense_Mutation_p.C133S NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 133 VWFC. cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 GTTTCATCACAAAGAACTCTT 0.522 NA 58 69 0 0 0 0 BSPRY 54836 broad.mit.edu 37 9 116130642 116130642 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr9:116130642G>A uc004bhg.3 + 5 709 c.661G>A c.(661-663)GCG>ACG p.A221T BSPRY_uc010muw.2_Intron NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 221 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1) 1 CTGGGCAACGGCGGTTCTTGG 0.527 NA 8 90 0 0 0 0 POF1B 79983 broad.mit.edu 37 X 84585990 84585990 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:84585990G>A uc004eer.2 - 7 965 c.819C>T c.(817-819)CAC>CAT p.H273H POF1B_uc004ees.2_Silent_p.H273H NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 273 actin binding 0 CTAATAAGCAGTGATATAGAT 0.378 NA 21 44 0 0 0 0 TNMD 64102 broad.mit.edu 37 X 99852545 99852545 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:99852545G>C uc004efy.3 + 5 694 c.468G>C c.(466-468)TGG>TGC p.W156C TNMD_uc004efz.2_Missense_Mutation_p.W156C NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 156 Extracellular (Potential).|BRICHOS. integral to membrane central_nervous_system(1) 1 CAGTGATTTGGGTCCCAGCAG 0.373 NA 11 99 0 0 0 0 XKRX 402415 broad.mit.edu 37 X 100177997 100177997 + Missense_Mutation SNP T T A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:100177997T>A uc004egn.2 - 2 994 c.389A>T c.(388-390)GAG>GTG p.E130V XKRX_uc011mre.1_Intron NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 130 integral to membrane|plasma membrane breast(1) 1 ATAGGGCTCCTCCTGCTCCTC 0.507 NA 88 135 0 0 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382142 101382142 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:101382142A>T uc004eip.2 + 3 559 c.340A>T c.(340-342)AGT>TGT p.S114C NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 agagccagagagtgagggaga 0.229 NA 33 36 0 0 0 0 COL4A5 1287 broad.mit.edu 37 X 107909817 107909817 + Silent SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:107909817T>C uc004enz.1 + 39 3748 c.3546T>C c.(3544-3546)GGT>GGC p.G1182G COL4A5_uc011mso.1_Silent_p.G1182G NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1182 Triple-helical region. G -> R (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GACAGAAGGGTGAACCAGGTG 0.428 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 20 14 0 0 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458389 120458389 + Frame_Shift_Del DEL G G - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:120458389delG uc001eik.2 - 34 7212 c.6956delC c.(6955-6957)GCGfs p.A2319fs NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 2319 Cytoplasmic (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGAGCCCCCGCTGGTTGGGC 0.622 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 15 62 --- --- --- --- NA NA NA NA GNPAT 8443 broad.mit.edu 37 1 231396328 231396330 + In_Frame_Del DEL AAA AAA - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:231396328_231396330delAAA uc001hup.3 + 3 543_545 c.337_339delAAA c.(337-339)AAAdel p.K113del GNPAT_uc009xfo.1_In_Frame_Del_p.K4del|GNPAT_uc009xfp.2_In_Frame_Del_p.K52del NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 113 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) AATGAGTCACAAACTGCGTCTTG 0.414 NA 37 314 --- --- --- --- NA NA NA NA FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr18:34261459_34261460delAG uc002kzt.1 + 12 1468_1469 c.1371_1372delAG c.(1369-1374)GCAGAGfs p.A457fs FHOD3_uc002kzr.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.A457fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.A172fs NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457_458 Potential. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.46 NA 7 83 --- --- --- --- NA NA NA NA TTN 7273 broad.mit.edu 37 2 179395925 179395925 + Frame_Shift_Del DEL G G - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:179395925delG uc010zfg.1 - 307 97937 c.97713delC c.(97711-97713)ACCfs p.T32571fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.T26266fs|TTN_uc010zfi.1_Frame_Shift_Del_p.T26199fs|TTN_uc010zfj.1_Frame_Shift_Del_p.T26074fs|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33498 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) CCTCGTAGACGGTCATGGACC 0.483 NA 45 164 --- --- --- --- NA NA NA NA MATN4 8785 broad.mit.edu 37 20 43926821 43926822 + Frame_Shift_Del DEL GC GC - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr20:43926821_43926822delGC uc002xnn.2 - 7 1601_1602 c.1414_1415delGC c.(1414-1416)GCCfs p.A472fs MATN4_uc002xno.2_Frame_Shift_Del_p.A431fs|MATN4_uc002xnp.2_Frame_Shift_Del_p.A390fs|MATN4_uc010zwr.1_Frame_Shift_Del_p.A420fs|MATN4_uc002xnr.1_Frame_Shift_Del_p.A472fs NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 513 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) TTCCTCCTTGGCGCGCGCTGCC 0.683 NA 16 52 --- --- --- --- NA NA NA NA