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 SPEN 23013 broad.mit.edu 37 1 16260533 16260533 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:16260533G>A uc001axk.1 + 11 8002 c.7798G>A c.(7798-7800)GAG>AAG p.E2600K SPEN_uc010obp.1_Missense_Mutation_p.E2559K NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2600 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACAAGCCTCGGAGGTGCTGGT 0.498 NA 12 113 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109806318 109806318 + Silent SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:109806318C>T uc001dxa.3 + 9 4981 c.4920C>T c.(4918-4920)CTC>CTT p.L1640L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1640 Extracellular (Potential).|Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCTGGTACCTCAGCCTCATGT 0.652 NA OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 120 0 0 0 0 GPR89A 653519 broad.mit.edu 37 1 145765384 145765384 + Silent SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:145765384T>C uc001eot.2 - 13 1320 c.1146A>G c.(1144-1146)CTA>CTG p.L382L NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Silent_p.L80L|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Silent_p.L306L|GPR89A_uc010ozb.1_Silent_p.L357L|GPR89A_uc001eos.2_Silent_p.L262L|GPR89A_uc010ozc.1_Silent_p.L357L|GPR89A_uc010ozd.1_Silent_p.L329L|GPR89A_uc010oze.1_Silent_p.L382L NM_001097612 NP_001091081 B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A isoform 1 382 Helical; (Potential). intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TCTGTGCTAATAGCAGGACAA 0.328 NA 23 173 0 0 0 0 LHX9 56956 broad.mit.edu 37 1 197887087 197887087 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:197887087C>T uc001guk.1 + 1 571 c.134C>T c.(133-135)GCC>GTC p.A45V LHX9_uc009wzc.1_RNA|LHX9_uc001gui.1_Missense_Mutation_p.A36V|LHX9_uc001guj.1_Missense_Mutation_p.A51V NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 45 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 AAGACTGAGGCCCGTCTGGCC 0.657 NA 7 79 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198668699 198668699 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:198668699C>T uc001gur.1 + 5 479 c.299C>T c.(298-300)TCA>TTA p.S100L PTPRC_uc001gus.1_Missense_Mutation_p.S100L|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.S36L|PTPRC_uc009wzf.1_Missense_Mutation_p.S36L|PTPRC_uc010ppg.1_Missense_Mutation_p.S36L|PTPRC_uc001guu.1_Missense_Mutation_p.S143L|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 100 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TTAGGTGTTTCATCAGTACAG 0.488 NA OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 72 0 0 0 0 KIF14 9928 broad.mit.edu 37 1 200587425 200587425 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:200587425T>C uc010ppk.1 - 2 866 c.427A>G c.(427-429)ATG>GTG p.M143V KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 143 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TTCAGTGTCATTTTGACAGAA 0.348 NA 5 58 0 0 0 0 TTC13 79573 broad.mit.edu 37 1 231061288 231061288 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:231061288G>A uc001huf.3 - 13 1594 c.1563C>T c.(1561-1563)TTC>TTT p.F521F TTC13_uc009xfi.2_Silent_p.F468F|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Silent_p.F468F|TTC13_uc009xfk.1_Silent_p.F411F NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 521 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TGTTTGGCAGGAAACCAGGTG 0.408 NA 6 62 0 0 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249108682 249108682 + Missense_Mutation SNP G G A rs151290329 TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:249108682G>A uc001iew.1 - 5 1055 c.503C>T c.(502-504)ACG>ATG p.T168M SH3BP5L_uc010pzp.1_Missense_Mutation_p.T61M|SH3BP5L_uc010pzq.1_Missense_Mutation_p.T136M|SH3BP5L_uc001iev.1_Missense_Mutation_p.T49M NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 168 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CTCCTGCCACGTGGGGTCCAG 0.592 NA 3 41 0 0 0 0 DNMBP 23268 broad.mit.edu 37 10 101657950 101657950 + Missense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr10:101657950T>A uc001kqj.2 - 9 2905 c.2813A>T c.(2812-2814)AAT>ATT p.N938I DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.N226I|DNMBP_uc001kqh.2_Missense_Mutation_p.N570I NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 938 DH. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TGGGGTGGAATTCAGCAACTC 0.438 NA 11 73 0 0 0 0 TTC17 55761 broad.mit.edu 37 11 43513699 43513699 + Missense_Mutation SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:43513699G>T uc001mxi.2 + 23 3294 c.3280G>T c.(3280-3282)GTC>TTC p.V1094F TTC17_uc010rfj.1_Missense_Mutation_p.V1094F|TTC17_uc001mxl.2_Missense_Mutation_p.V150F|TTC17_uc001mxm.2_Missense_Mutation_p.V75F NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1094 TPR 6. binding ovary(5) 5 TCTGGGCAATGTCTACGTGGC 0.478 NA 9 86 1.13e-05 1.22e-05 1 0 OR5B12 390191 broad.mit.edu 37 11 58207492 58207492 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:58207492C>G uc010rkh.1 - 1 133 c.133G>C c.(133-135)GAA>CAA p.E45Q NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 45 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGAATCAATTCAATCATCCCC 0.488 NA 5 49 0 0 0 0 SNX15 29907 broad.mit.edu 37 11 64802351 64802351 + Nonsense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:64802351C>T uc001oci.3 + 7 942 c.289C>T c.(289-291)CGA>TGA p.R97* SNX15_uc009ypy.2_Nonsense_Mutation_p.R97*|SNX15_uc001ocj.2_Nonsense_Mutation_p.R97*|SNX15_uc001ock.2_Nonsense_Mutation_p.R97* NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN sorting nexin 15 isoform A 97 PX. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity ovary(1) 1 CGAGGAGCGGCGAAAGGGGGC 0.622 NA 4 48 0 0 0 0 MMP7 4316 broad.mit.edu 37 11 102401427 102401427 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:102401427C>T uc001phb.2 - 1 52 c.5G>A c.(4-6)CGA>CAA p.R2Q MMP7_uc009yxd.2_Missense_Mutation_p.R2Q|MMP7_uc010rus.1_Missense_Mutation_p.R2Q NM_002423 NP_002414 P09237 MMP7_HUMAN matrix metalloproteinase 7 preproprotein 2 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(1) 1 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) CACGGTGAGTCGCATAGCTGC 0.547 NA 5 50 0 0 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335745 117335745 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:117335745C>T uc001prh.1 - 17 3360 c.3358G>A c.(3358-3360)GCC>ACC p.A1120T NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1060 Extracellular (Potential).|Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCATACTGGGCGAACTTCTTG 0.622 NA 6 92 0 0 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472579 47472579 + Silent SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:47472579C>T uc001rpm.2 - 3 862 c.207G>A c.(205-207)CTG>CTA p.L69L FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.L69L|AMIGO2_uc001rpl.2_Silent_p.L69L NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 69 Extracellular (Potential).|LRR 1. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) GTCTCTTAATCAGTCTGAAAA 0.493 NA 7 66 0 0 0 0 VDR 7421 broad.mit.edu 37 12 48238570 48238570 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:48238570T>C uc001rqm.2 - 11 1525 c.1243A>G c.(1243-1245)ACG>GCG p.T415A VDR_uc001rql.2_Missense_Mutation_p.T465A|VDR_uc001rqn.2_Missense_Mutation_p.T415A|VDR_uc010slq.1_Missense_Mutation_p.T383A NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 415 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) ACAAGGGGCGTTAGCTTCATG 0.607 NA 4 31 0 0 0 0 TENC1 23371 broad.mit.edu 37 12 53455639 53455639 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:53455639G>A uc001sbp.2 + 22 3624 c.3489G>A c.(3487-3489)CTG>CTA p.L1163L TENC1_uc001sbl.2_Silent_p.L1039L|TENC1_uc001sbn.2_Silent_p.L1173L|TENC1_uc001sbq.2_Silent_p.L561L|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.L658L|TENC1_uc001sbs.2_5'UTR NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 1163 SH2. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 GGGCCTTCCTGATCAGGGACA 0.617 NA 12 139 0 0 0 0 RARG 5916 broad.mit.edu 37 12 53609131 53609131 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:53609131G>A uc001sce.2 - 5 906 c.421C>T c.(421-423)CGC>TGC p.R141C RARG_uc001scd.2_Missense_Mutation_p.R130C|RARG_uc010sob.1_Missense_Mutation_p.R119C|RARG_uc001scf.2_Missense_Mutation_p.R141C|RARG_uc001scg.2_Missense_Mutation_p.R69C|RARG_uc010soc.1_Missense_Mutation_p.R20C|RARG_uc010sod.1_Missense_Mutation_p.R178C NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 141 NR C4-type.|Nuclear receptor. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TACTGGCAGCGATTCCTGGTC 0.552 NA 8 85 0 0 0 0 IFT81 28981 broad.mit.edu 37 12 110574583 110574583 + Silent SNP A A G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:110574583A>G uc001tqi.2 + 8 829 c.699A>G c.(697-699)CTA>CTG p.L233L IFT81_uc001tqh.2_Silent_p.L233L|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.L233L NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 233 Potential. cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 TTTTAAAGCTATTTCATGCAG 0.348 NA 3 21 0 0 0 0 AKAP6 9472 broad.mit.edu 37 14 33292535 33292535 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr14:33292535C>G uc001wrq.2 + 13 5686 c.5516C>G c.(5515-5517)CCC>CGC p.P1839R NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1839 P -> T (in a colorectal cancer sample; somatic mutation). protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.P1839T(1) breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATGACCAATCCCTCTGATACT 0.373 NA 4 75 0 0 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633915 70633915 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr14:70633915C>G uc001xly.2 - 2 1979 c.1225G>C c.(1225-1227)GAG>CAG p.E409Q SLC8A3_uc001xlw.2_Missense_Mutation_p.E409Q|SLC8A3_uc001xlx.2_Missense_Mutation_p.E409Q|SLC8A3_uc001xlz.2_Missense_Mutation_p.E409Q|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 409 Calx-beta 1.|Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCACAGTTCTCCAGGCACTGG 0.512 NA 15 106 0 0 0 0 YY1 7528 broad.mit.edu 37 14 100728656 100728656 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr14:100728656T>C uc001ygy.1 + 2 1175 c.695T>C c.(694-696)ATT>ACT p.I232T NM_003403 NP_003394 P25490 TYY1_HUMAN YY1 transcription factor 232 cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding 0 Melanoma(154;0.152) AAAAAAGATATTGACCATGAG 0.333 NA 4 47 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 26026297 26026297 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr15:26026297C>T uc010ayu.2 - 2 629 c.523G>A c.(523-525)GAA>AAA p.E175K NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 175 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGGAAGATTTCGTTGCAGCGA 0.493 NA 3 33 0 0 0 0 TLN2 83660 broad.mit.edu 37 15 62942335 62942335 + Nonsense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr15:62942335G>A uc002alb.3 + 2 189 c.189G>A c.(187-189)TGG>TGA p.W63* NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 63 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AAGGGATTTGGCTGGAAGCGG 0.478 NA 7 87 0 0 0 0 TRAP1 10131 broad.mit.edu 37 16 3736066 3736066 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr16:3736066G>A uc002cvt.3 - 4 491 c.402C>T c.(400-402)GAC>GAT p.D134D TRAP1_uc010uxf.1_Silent_p.D81D NM_016292 NP_057376 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 precursor 134 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(1) 1 Ovarian(90;0.0261) GTGCTTGGCCGTCAGACACCA 0.532 NA 4 58 0 0 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25255343 25255343 + Missense_Mutation SNP G G C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr16:25255343G>C uc002dod.3 - 6 2151 c.1744C>G c.(1744-1746)CTG>GTG p.L582V ZKSCAN2_uc010vcl.1_Missense_Mutation_p.L378V NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 582 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) GAGTTAATCAGGGCATCCATC 0.532 NA 7 59 0 0 0 0 ZNF668 79759 broad.mit.edu 37 16 31075507 31075507 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr16:31075507C>G uc010caf.2 - 2 631 c.274G>C c.(274-276)GCC>CCC p.A92P ZNF668_uc002eao.2_Missense_Mutation_p.A92P|ZNF668_uc010cag.1_Missense_Mutation_p.A92P NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 92 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 GTCTTGTAGGCCTTGGGGCAT 0.667 NA 5 38 0 0 0 0 MYH13 8735 broad.mit.edu 37 17 10209914 10209914 + Silent SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr17:10209914T>C uc002gmk.1 - 37 5418 c.5328A>G c.(5326-5328)GAA>GAG p.E1776E NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1776 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGGTGTCCTGTTCCTTCTTTA 0.577 NA 9 96 0 0 0 0 FAM83G 644815 broad.mit.edu 37 17 18882983 18882983 + Missense_Mutation SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr17:18882983G>T uc002guw.2 - 4 861 c.694C>A c.(694-696)CTC>ATC p.L232I SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 232 ovary(1)|central_nervous_system(1) 2 CGCACTCTGAGATTCTGTTTT 0.587 NA 6 89 0.00448238 0.00475938 1 0 VAV1 7409 broad.mit.edu 37 19 6829898 6829898 + Missense_Mutation SNP A A T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:6829898A>T uc002mfu.1 + 14 1464 c.1367A>T c.(1366-1368)GAT>GTT p.D456V VAV1_uc010xjh.1_Missense_Mutation_p.D424V|VAV1_uc010dva.1_Missense_Mutation_p.D456V|VAV1_uc002mfv.1_Missense_Mutation_p.D401V NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 456 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 CAGGTTCGGGATGACTCTTCA 0.552 NA 4 61 0 0 0 0 KEAP1 9817 broad.mit.edu 37 19 10597384 10597384 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:10597384C>G uc002moq.1 - 6 1975 c.1819G>C c.(1819-1821)GCT>CCT p.A607P KEAP1_uc002mop.1_Missense_Mutation_p.A266P|KEAP1_uc002mor.1_Missense_Mutation_p.A607P NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 607 Kelch 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATGGTGACAGCCACGCCCACC 0.557 NA 8 122 0 0 0 0 ZNF563 147837 broad.mit.edu 37 19 12429679 12429679 + Missense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:12429679T>A uc002mtp.2 - 4 1398 c.1160A>T c.(1159-1161)CAC>CTC p.H387L NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 387 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACCTCCAGTGTGCATTATCAT 0.418 NA 13 144 0 0 0 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065144 13065144 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:13065144C>T uc002mwb.2 - 2 571 c.547G>A c.(547-549)GAG>AAG p.E183K NM_052850 NP_443082 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma 183 Potential. cell cycle|interspecies interaction between organisms nucleus protein binding ovary(1)|skin(1) 2 TCCTTCTTCTCTAGGTCCTGG 0.627 NA 6 101 0 0 0 0 CYTH2 9266 broad.mit.edu 37 19 48981788 48981788 + Missense_Mutation SNP A A G rs144064799 TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:48981788A>G uc002pjj.3 + 12 1354 c.1054A>G c.(1054-1056)ATG>GTG p.M352V CYTH2_uc002pji.2_RNA NM_017457 NP_059431 Q99418 CYH2_HUMAN cytohesin 2 isoform 1 352 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GGGAAACCACATGGTGTACCG 0.463 NA 3 54 0 0 0 0 NUP62 23636 broad.mit.edu 37 19 50412820 50412820 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:50412820G>A uc002pqx.2 - 2 349 c.245C>T c.(244-246)GCT>GTT p.A82V IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.A82V|NUP62_uc002pqz.2_Missense_Mutation_p.A82V|NUP62_uc002pra.2_Missense_Mutation_p.A82V|NUP62_uc002prb.2_Missense_Mutation_p.A82V|NUP62_uc002prc.2_Missense_Mutation_p.A82V NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 82 15 X 9 AA approximate repeats.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TCCCCCCGAAGCAAGAGTCGC 0.577 NA 14 131 0 0 0 0 KLF11 8462 broad.mit.edu 37 2 10186310 10186310 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr2:10186310G>A uc002raf.1 + 2 238 c.76G>A c.(76-78)GAG>AAG p.E26K KLF11_uc010yjc.1_Missense_Mutation_p.E9K NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 26 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GTCCATCCTGGAGAGGAAGCG 0.522 NA 5 50 0 0 0 0 PSD4 23550 broad.mit.edu 37 2 113950906 113950906 + Missense_Mutation SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr2:113950906G>T uc002tjc.2 + 8 2174 c.1991G>T c.(1990-1992)AGA>ATA p.R664I PSD4_uc002tjd.2_Missense_Mutation_p.R285I|PSD4_uc002tje.2_Missense_Mutation_p.R635I|PSD4_uc002tjf.2_Missense_Mutation_p.R285I NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 664 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CAGTTCTCCAGACGCTTCCAC 0.597 NA 4 62 0.00024832 0.000265155 1 0 BMPR2 659 broad.mit.edu 37 2 203420620 203420620 + Silent SNP T T G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr2:203420620T>G uc002uzf.3 + 12 3380 c.2232T>G c.(2230-2232)CCT>CCG p.P744P BMPR2_uc010ftr.2_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 744 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 AGATCTATCCTCTCCCCAAGC 0.458 NA 5 72 0 0 0 0 MAFB 9935 broad.mit.edu 37 20 39317186 39317186 + Missense_Mutation SNP A A G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr20:39317186A>G uc002xji.2 - 1 691 c.305T>C c.(304-306)CTG>CCG p.L102P NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 102 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) CTCGGGCGTCAGGTTGAGCGC 0.587 NA T IGH@ MM 3 62 0 0 0 0 APCDD1L 164284 broad.mit.edu 37 20 57035940 57035940 + Missense_Mutation SNP G G A rs147052922 byFrequency TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr20:57035940G>A uc002xze.1 - 4 1598 c.1412C>T c.(1411-1413)TCG>TTG p.S471L APCDD1L_uc010zzp.1_Missense_Mutation_p.S482L NM_153360 NP_699191 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 471 integral to membrane ovary(1) 1 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CTTCTGCAGCGATGGCCTGTG 0.627 NA 4 63 0 0 0 0 MRPL39 54148 broad.mit.edu 37 21 26972131 26972131 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr21:26972131C>G uc002ylo.2 - 5 582 c.568G>C c.(568-570)GAT>CAT p.D190H MRPL39_uc002yln.2_Missense_Mutation_p.D190H NM_017446 NP_059142 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 isoform a 190 mitochondrial ribosome nucleotide binding 0 ATCCACTCATCAAGTTTGCTA 0.348 NA 3 57 0 0 0 0 UBE2G2 7327 broad.mit.edu 37 21 46193489 46193489 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr21:46193489G>A uc002zfy.2 - 5 433 c.358C>T c.(358-360)CTG>TTG p.L120L UBE2G2_uc002zfx.2_Silent_p.L92L NM_003343 NP_003334 P60604 UB2G2_HUMAN ubiquitin-conjugating enzyme E2G 2 isoform 1 120 protein K48-linked ubiquitination cytosol ATP binding|protein binding|ubiquitin-protein ligase activity breast(3)|central_nervous_system(1) 4 Colorectal(79;0.0638) ACCGACAGCAGGATCTTCTCC 0.637 NA 4 35 0 0 0 0 COL18A1 80781 broad.mit.edu 37 21 46875807 46875807 + Silent SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr21:46875807C>T uc011afs.1 + 1 384 c.363C>T c.(361-363)ATC>ATT p.I121I COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.I121I NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 121 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCAAAGGCATCCGGAGCTTCG 0.642 NA 8 80 0 0 0 0 MCM3AP 8888 broad.mit.edu 37 21 47700039 47700039 + Missense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr21:47700039T>A uc002zir.1 - 4 1571 c.1535A>T c.(1534-1536)AAA>ATA p.K512I NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 512 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) GGAAAAGGGTTTCTTATTGGG 0.483 NA 8 126 0 0 0 0 C22orf29 79680 broad.mit.edu 37 22 19839545 19839545 + Silent SNP A A T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr22:19839545A>T uc002zqg.2 - 2 839 c.240T>A c.(238-240)GGT>GGA p.G80G GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.G80G|C22orf29_uc002zqi.2_Silent_p.G80G|C22orf29_uc010grt.1_Intron NM_024627 NP_078903 Q7L3V2 CV029_HUMAN hypothetical protein LOC79680 80 0 Colorectal(54;0.0993) CAGCTAGGGGACCCCTTTCTG 0.627 NA 11 50 0 0 0 0 CHL1 10752 broad.mit.edu 37 3 369921 369921 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:369921G>A uc003bou.2 + 5 540 c.269G>A c.(268-270)GGA>GAA p.G90E CHL1_uc003bot.2_Missense_Mutation_p.G90E|CHL1_uc003bow.1_Missense_Mutation_p.G90E|CHL1_uc011asi.1_Missense_Mutation_p.G90E NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 90 Ig-like C2-type 1.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AACAATTCAGGAACATTCAGG 0.388 NA 6 94 0 0 0 0 CRYBG3 131544 broad.mit.edu 37 3 97598838 97598838 + Missense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:97598838T>A uc003drx.2 + 3 1118 c.1054T>A c.(1054-1056)TAT>AAT p.Y352N NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 GATGGTTATCTATGATCTCCA 0.284 NA 10 59 0 0 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277533 140277533 + Silent SNP G G C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:140277533G>C uc003etn.2 + 12 2065 c.1875G>C c.(1873-1875)GTG>GTC p.V625V NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 625 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 ATGCCTATGTGATGGTCCTCC 0.547 NA HNSCC(16;0.037) 5 65 0 0 0 0 PHC3 80012 broad.mit.edu 37 3 169835109 169835109 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:169835109T>C uc010hws.1 - 10 2126 c.2062A>G c.(2062-2064)ATA>GTA p.I688V PHC3_uc003fgl.2_Missense_Mutation_p.I700V|PHC3_uc011bpq.1_Missense_Mutation_p.I647V NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 688 multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTGTTCTCTATACTGGGAATG 0.448 NA 7 42 0 0 0 0 TP63 8626 broad.mit.edu 37 3 189526137 189526137 + Missense_Mutation SNP A A G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:189526137A>G uc003fry.2 + 4 490 c.401A>G c.(400-402)TAT>TGT p.Y134C TP63_uc003frx.2_Missense_Mutation_p.Y134C|TP63_uc003frz.2_Missense_Mutation_p.Y134C|TP63_uc010hzc.1_Missense_Mutation_p.Y134C|TP63_uc003fsa.2_Missense_Mutation_p.Y40C|TP63_uc003fsb.2_Missense_Mutation_p.Y40C|TP63_uc003fsc.2_Missense_Mutation_p.Y40C|TP63_uc003fsd.2_Missense_Mutation_p.Y40C|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.Y15C NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 134 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCAGTCCCTATAACACAGAC 0.617 NA Hay-Wells_syndrome HNSCC(45;0.13) 15 80 0 0 0 0 EVC 2121 broad.mit.edu 37 4 5750014 5750014 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr4:5750014C>T uc003gil.1 + 8 1263 c.1079C>T c.(1078-1080)TCT>TTT p.S360F EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Silent_p.E463E NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 360 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) TTGTGCGATTCTCAGGAGCTG 0.488 NA 3 36 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187530345 187530345 + Nonsense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr4:187530345G>A uc003izf.2 - 16 10386 c.10198C>T c.(10198-10200)CGA>TGA p.R3400* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3400 Extracellular (Potential).|Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ACCGTTTCTCGGTCGAGAAGT 0.453 NA HNSCC(5;0.00058) 8 33 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187542660 187542660 + Nonsense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr4:187542660G>A uc003izf.2 - 10 5268 c.5080C>T c.(5080-5082)CAA>TAA p.Q1694* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1694 Extracellular (Potential).|Cadherin 15. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ACTGATGATTGACTATGGGCT 0.393 NA HNSCC(5;0.00058) 7 49 0 0 0 0 TRIML2 205860 broad.mit.edu 37 4 189022315 189022315 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr4:189022315C>G uc003izl.2 - 3 261 c.225G>C c.(223-225)CAG>CAC p.Q75H TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.Q125H|TRIML2_uc011clf.1_Missense_Mutation_p.Q125H NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 75 Potential. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CCTGCTGTCTCTGGAGATTCT 0.428 NA 5 45 0 0 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 171485 171485 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:171485G>A uc003jak.2 + 14 2958 c.2908G>A c.(2908-2910)GCC>ACC p.A970T NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 970 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GCTCCGAGCCGCCGAGGTCGT 0.677 NA 4 28 0 0 0 0 ADCY2 108 broad.mit.edu 37 5 7626401 7626401 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:7626401T>C uc003jdz.1 + 4 759 c.692T>C c.(691-693)ATC>ACC p.I231T NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 231 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AAGTCGCGGATCAAGTTGGAA 0.398 NA 3 56 0 0 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589628 67589628 + Missense_Mutation SNP A A T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:67589628A>T uc003jva.2 + 11 1951 c.1391A>T c.(1390-1392)GAT>GTT p.D464V PIK3R1_uc003jvb.2_Missense_Mutation_p.D464V|PIK3R1_uc003jvc.2_Missense_Mutation_p.D164V|PIK3R1_uc003jvd.2_Missense_Mutation_p.D194V|PIK3R1_uc003jve.2_Missense_Mutation_p.D143V|PIK3R1_uc011crb.1_Missense_Mutation_p.D134V NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 464 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D434_Q475del(2)|p.D464fs*2(1)|p.?(1)|p.D464H(1)|p.Y463_L466del(1)|p.T454_D464del(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CGAGAATATGATAGATTATAT 0.294 NA Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 9 54 0 0 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948498 82948498 + Silent SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:82948498G>T uc003kim.2 - 2 317 c.246C>A c.(244-246)ACC>ACA p.T82T HAPLN1_uc003kin.2_Silent_p.T82T NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 82 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) AAGTTAGCTTGGTCCACTTAA 0.423 NA 5 97 1.64e-10 1.81e-10 1 0 RASA1 5921 broad.mit.edu 37 5 86659189 86659189 + Nonsense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:86659189T>A uc003kiw.2 + 11 1596 c.1478T>A c.(1477-1479)TTA>TAA p.L493* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.L316*|RASA1_uc011ctv.1_Nonsense_Mutation_p.L326*|RASA1_uc011ctw.1_Nonsense_Mutation_p.L327*|RASA1_uc010jaw.2_Nonsense_Mutation_p.L315* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 493 PH. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TGGAAAAATTTATATTTTATC 0.289 NA 10 33 0 0 0 0 AQPEP 206338 broad.mit.edu 37 5 115327924 115327924 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:115327924G>A uc003kro.2 + 5 1374 c.1210G>A c.(1210-1212)GAA>AAA p.E404K AQPEP_uc003krp.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 404 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 TCAACTGACAGAAAAAAAGAC 0.388 NA 5 84 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214357 140214357 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:140214357C>G uc003lhq.2 + 1 389 c.389C>G c.(388-390)CCT>CGT p.P130R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P130R NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 130 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGACAACCCTCCGGTGTTC 0.592 NA 8 184 0 0 0 0 KIF4B 285643 broad.mit.edu 37 5 154393632 154393632 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:154393632G>A uc010jih.1 + 1 373 c.213G>A c.(211-213)CCG>CCA p.P71P NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 71 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGTAGCGCCGCTCATAAAAG 0.463 NA 9 62 0 0 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24523069 24523069 + Silent SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:24523069C>T uc003neg.2 + 7 1117 c.1089C>T c.(1087-1089)GCC>GCT p.A363A ALDH5A1_uc003nef.2_Silent_p.A376A NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 363 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TCGCCGAGGCCATGAAGAAGA 0.428 NA 10 106 0 0 0 0 ZNF391 346157 broad.mit.edu 37 6 27368887 27368887 + Missense_Mutation SNP G G C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:27368887G>C uc003njf.1 + 3 1256 c.738G>C c.(736-738)GAG>GAC p.E246D NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 ACACTGGAGAGAATCCCTATG 0.433 NA 3 44 0 0 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327420 28327420 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:28327420G>A uc003nle.3 + 2 273 c.57G>A c.(55-57)CAG>CAA p.Q19Q ZKSCAN3_uc010jrc.2_Silent_p.Q19Q|ZKSCAN3_uc003nlf.3_Intron NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 19 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 CAGAAGACCAGATGGAGCTTC 0.562 NA 9 98 0 0 0 0 DLK2 65989 broad.mit.edu 37 6 43418618 43418618 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:43418618C>G uc003ova.2 - 6 1020 c.811G>C c.(811-813)GTG>CTG p.V271L DLK2_uc003ovb.2_Missense_Mutation_p.V271L NM_023932 NP_076421 Q6UY11 DLK2_HUMAN EGF-like-domain, multiple 9 precursor 271 Extracellular (Potential). integral to membrane calcium ion binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCAGGTACCACTACAGCTGAG 0.647 NA 6 63 0 0 0 0 PRDM1 639 broad.mit.edu 37 6 106553695 106553695 + Missense_Mutation SNP A A G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:106553695A>G uc003prd.2 + 5 1894 c.1660A>G c.(1660-1662)AGA>GGA p.R554G PRDM1_uc003pre.2_Missense_Mutation_p.R420G NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 554 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TAAAAACAAAAGAAACATGAC 0.537 NA D|N|Mis|F|S DLBCL 4 50 0 0 0 0 C6orf170 221322 broad.mit.edu 37 6 121600334 121600334 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:121600334T>C uc003pyo.1 - 15 1734 c.1666A>G c.(1666-1668)ATT>GTT p.I556V C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.I75V NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 556 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) ACAGATGCAATTCTTGCCAAA 0.328 NA 5 59 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152722368 152722368 + Missense_Mutation SNP A A G rs138004884 byFrequency TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:152722368A>G uc010kiw.2 - 47 7536 c.6934T>C c.(6934-6936)TTT>CTT p.F2312L SYNE1_uc003qot.3_Missense_Mutation_p.F2319L|SYNE1_uc003qou.3_Missense_Mutation_p.F2312L|SYNE1_uc010kjb.1_Missense_Mutation_p.F2295L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2312 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCATTAATAAACTTCTCCACT 0.393 NA HNSCC(10;0.0054) 4 66 0 0 0 0 NPSR1 387129 broad.mit.edu 37 7 34888178 34888178 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr7:34888178T>C uc003teg.1 + 8 1056 c.928T>C c.(928-930)TAT>CAT p.Y310H AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.Y310H|NPSR1_uc010kwt.1_Missense_Mutation_p.Y157H|NPSR1_uc010kwu.1_Missense_Mutation_p.Y100H|NPSR1_uc010kwv.1_Missense_Mutation_p.Y244H|NPSR1_uc003tei.1_Missense_Mutation_p.Y310H|NPSR1_uc010kww.1_Missense_Mutation_p.Y299H|NPSR1_uc011kar.1_Missense_Mutation_p.Y244H NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 310 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) GGAGCGTTTCTATGCCTCTGT 0.498 NA 11 203 0 0 0 0 TRIM24 8805 broad.mit.edu 37 7 138269634 138269634 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr7:138269634G>A uc003vuc.2 + 19 3306 c.3091G>A c.(3091-3093)GAC>AAC p.D1031N TRIM24_uc003vub.2_Missense_Mutation_p.D997N NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 1031 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 TTCAGATGATGACTTTGTACA 0.373 NA 4 46 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr9:21971120G>A uc003zpk.2 - 2 450 c.238C>T c.(238-240)CGA>TGA p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 80 ANK 3. R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726 R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 11 0 0 0 0 TOPORS 10210 broad.mit.edu 37 9 32542338 32542338 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr9:32542338G>A uc003zrb.2 - 3 2352 c.2185C>T c.(2185-2187)CAT>TAT p.H729Y TOPORS_uc003zrc.2_Missense_Mutation_p.H662Y NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 729 Interaction with TOP1.|Arg-rich.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CTAGAATAATGAGCTCTGGAC 0.378 NA 10 154 0 0 0 0 ABCA2 20 broad.mit.edu 37 9 139906446 139906446 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr9:139906446G>A uc011mem.1 - 34 5530 c.5382C>T c.(5380-5382)ATC>ATT p.I1794I ABCA2_uc011mel.1_Silent_p.I1795I|ABCA2_uc004ckl.1_Silent_p.I1725I|ABCA2_uc004ckm.1_Silent_p.I1825I NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1794 Helical; (Potential). cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGAAGATGGCGATGACGACAT 0.637 NA 4 48 0 0 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49032203 49032203 + Nonsense_Mutation SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chrX:49032203G>T uc004dmy.1 - 9 1693 c.1667C>A c.(1666-1668)TCA>TAA p.S556* PRICKLE3_uc011mmv.1_Nonsense_Mutation_p.S488*|PRICKLE3_uc011mmw.1_Nonsense_Mutation_p.S475*|PRICKLE3_uc011mmx.1_Nonsense_Mutation_p.S518* NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 556 Poly-Ser. protein binding|zinc ion binding breast(1) 1 ATCCTCTGATGATTCGGAACT 0.577 NA 15 75 1.15e-07 1.26e-07 1 0 HCFC1 3054 broad.mit.edu 37 X 153215722 153215722 + Silent SNP G G C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chrX:153215722G>C uc004fjp.2 - 24 6504 c.5976C>G c.(5974-5976)GGC>GGG p.G1992G NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1992 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGTGGCCGGGCCATAGCCCT 0.632 NA 7 32 0 0 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:85039999_85040007delGCAGCGCCA uc001dka.2 - 1 157_165 c.92_100delTGGCGCTGC c.(91-102)CTGGCGCTGCGG>CGG p.LAL31del CTBS_uc001dkc.2_5'UTR|CTBS_uc001dkd.2_5'UTR|CTBS_uc001dkb.2_5'UTR NM_004388 NP_004379 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- precursor 31_33 lysosome cation binding 0 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.589 NA 2 4 --- --- --- --- NA NA NA NA EIF4G1 1981 broad.mit.edu 37 3 184045767 184045767 + Frame_Shift_Del DEL G G - TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:184045767delG uc003fnp.2 + 26 4128 c.3930delG c.(3928-3930)CTGfs p.L1310fs EIF4G1_uc003fnt.2_Frame_Shift_Del_p.L1021fs|EIF4G1_uc003fnq.2_Frame_Shift_Del_p.L1223fs|EIF4G1_uc003fnr.2_Frame_Shift_Del_p.L1146fs|EIF4G1_uc010hxx.2_Frame_Shift_Del_p.L1317fs|EIF4G1_uc003fns.2_Frame_Shift_Del_p.L1270fs|EIF4G1_uc010hxy.2_Frame_Shift_Del_p.L1317fs|EIF4G1_uc003fnv.3_Frame_Shift_Del_p.L1311fs|EIF4G1_uc003fnu.3_Frame_Shift_Del_p.L1310fs|EIF4G1_uc003fnw.2_Frame_Shift_Del_p.L1317fs|EIF4G1_uc003fnx.2_Frame_Shift_Del_p.L1115fs|EIF4G1_uc003fny.3_Frame_Shift_Del_p.L1114fs|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1310 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGGGCATCTGTCTACTGCTC 0.537 NA 7 113 --- --- --- --- NA NA NA NA