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 CAMTA1 23261 broad.mit.edu 37 1 7805922 7805922 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:7805922C>G uc001aoi.2 + 18 4595 c.4388C>G c.(4387-4389)CCT>CGT p.P1463R CAMTA1_uc001aok.3_Missense_Mutation_p.P506R|CAMTA1_uc001aoj.2_Missense_Mutation_p.P419R|CAMTA1_uc009vmf.2_Intron NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1463 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TATAACGAGCCTCTAACCCCT 0.458 NA 40 247 0 0 0 0 GRHL3 57822 broad.mit.edu 37 1 24669215 24669215 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:24669215G>A uc001biy.2 + 10 1299 c.1253G>A c.(1252-1254)CGG>CAG p.R418Q GRHL3_uc001bix.2_Missense_Mutation_p.R413Q|GRHL3_uc001biz.2_Missense_Mutation_p.R320Q NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 413 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GATGACGAGCGGAAGCAGTTC 0.627 NA 16 191 0 0 0 0 RCC1 1104 broad.mit.edu 37 1 28862414 28862414 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:28862414G>A uc001bqg.1 + 7 778 c.693G>A c.(691-693)CTG>CTA p.L231L SNHG3-RCC1_uc001bqa.1_Silent_p.L231L|SNHG3-RCC1_uc001bqb.1_Silent_p.L231L|SNHG3-RCC1_uc001bqc.1_Silent_p.L231L|RCC1_uc001bqe.1_Silent_p.L248L|RCC1_uc001bqf.1_Silent_p.L262L NM_001269 NP_001260 P18754 RCC1_HUMAN regulator of chromosome condensation 1 isoform 231 RCC1 4. cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GTGTGATGCTGAAATCCAGGG 0.562 NA 24 261 0 0 0 0 NRD1 4898 broad.mit.edu 37 1 52289446 52289446 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:52289446G>A uc001ctc.3 - 9 1575 c.1253C>T c.(1252-1254)ACG>ATG p.T418M NRD1_uc009vzb.2_Missense_Mutation_p.T113M|NRD1_uc001ctd.3_Missense_Mutation_p.T350M|NRD1_uc001cte.2_Missense_Mutation_p.T286M|NRD1_uc001ctf.2_Missense_Mutation_p.T350M|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.T218M NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 349 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 ATGCTTGAGCGTCTCAGCATT 0.313 NA 6 84 0 0 0 0 LRRC42 115353 broad.mit.edu 37 1 54417937 54417937 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:54417937C>T uc001cwj.1 + 2 465 c.265C>T c.(265-267)CTC>TTC p.L89F LRRC42_uc001cwl.1_Missense_Mutation_p.L89F|LRRC42_uc001cwk.1_Missense_Mutation_p.L89F|LRRC42_uc009vzm.1_Missense_Mutation_p.L89F NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 89 0 CGCCAAATCCCTCTTCAGCCT 0.483 NA 13 168 0 0 0 0 BCL10 8915 broad.mit.edu 37 1 85733597 85733597 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:85733597C>T uc001dkz.2 - 4 1120 c.415G>A c.(415-417)GAT>AAT p.D139N NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 139 apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) TTACTCTCATCTGAATTTGAT 0.388 NA T IGH@ MALT 28 184 0 0 0 0 UBAP2L 9898 broad.mit.edu 37 1 154199771 154199771 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:154199771A>C uc001fep.3 + 3 271 c.104A>C c.(103-105)CAA>CCA p.Q35P UBAP2L_uc009wot.2_Missense_Mutation_p.Q35P|UBAP2L_uc010pek.1_Missense_Mutation_p.Q34P|UBAP2L_uc010pel.1_Missense_Mutation_p.Q34P|UBAP2L_uc001fen.1_Missense_Mutation_p.Q34P|UBAP2L_uc010pem.1_Missense_Mutation_p.Q34P|UBAP2L_uc010pen.1_5'Flank NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 35 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACTGCAGAACAAATTAGACTT 0.418 NA 17 187 0 0 0 0 OR10J3 441911 broad.mit.edu 37 1 159283758 159283758 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:159283758G>A uc010piu.1 - 1 692 c.692C>T c.(691-693)TCA>TTA p.S231L NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) ACCTTCAGCTGAGGCAATCTT 0.493 NA 38 138 0 0 0 0 SLAMF8 56833 broad.mit.edu 37 1 159802746 159802746 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:159802746T>A uc001fue.3 + 3 658 c.448T>A c.(448-450)TTG>ATG p.L150M NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN SLAM family member 8 precursor 150 Ig-like C2-type.|Extracellular (Potential). integral to membrane 0 all_hematologic(112;0.0597) CCAGGTTTTCTTGTCCTGTTG 0.532 NA 15 148 0 0 0 0 BLZF1 8548 broad.mit.edu 37 1 169349768 169349768 + Missense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:169349768A>T uc001gfx.1 + 5 1155 c.718A>T c.(718-720)AAC>TAC p.N240Y BLZF1_uc001gfy.2_Missense_Mutation_p.N240Y|BLZF1_uc009wvp.1_Missense_Mutation_p.N217Y NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 240 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) ACAGCGTCAAAACCGTGATGC 0.393 NA 7 106 0 0 0 0 RD3 343035 broad.mit.edu 37 1 211654485 211654485 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:211654485G>A uc001him.2 - 2 1437 c.273C>T c.(271-273)TCC>TCT p.S91S RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron NM_183059 NP_898882 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 91 response to stimulus|visual perception ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GCCCACAATAGGATGGGTGGA 0.617 NA 17 45 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216348688 216348688 + Silent SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:216348688A>T uc001hku.1 - 21 4920 c.4533T>A c.(4531-4533)GCT>GCA p.A1511A USH2A_uc001hkv.2_Silent_p.A1511A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1511 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGTCATCAGAGCTGGTAGAG 0.443 NA HNSCC(13;0.011) 7 90 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228465484 228465484 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:228465484G>C uc009xez.1 + 25 6828 c.6784G>C c.(6784-6786)GTC>CTC p.V2262L OBSCN_uc001hsn.2_Missense_Mutation_p.V2262L|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2262 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTACCGGAGAGTCCTGGCGGA 0.622 NA 7 62 0 0 0 0 CAPN9 10753 broad.mit.edu 37 1 230898463 230898463 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:230898463G>A uc001htz.1 + 4 580 c.467G>A c.(466-468)CGC>CAC p.R156H CAPN9_uc009xfg.1_Missense_Mutation_p.R93H|CAPN9_uc001hua.1_Missense_Mutation_p.R156H NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 156 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TTCAGGGACCGCTTGGTTTTC 0.577 NA 28 87 0 0 0 0 ADARB2 105 broad.mit.edu 37 10 1405308 1405308 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:1405308G>A uc009xhq.2 - 3 1366 c.992C>T c.(991-993)GCC>GTC p.A331V NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 331 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GGCCTGCGCGGCCTGACCCCG 0.751 NA 3 21 0 0 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344239 38344239 + Missense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:38344239A>T uc001izh.2 + 5 1362 c.1184A>T c.(1183-1185)CAT>CTT p.H395L ZNF33A_uc001izg.2_Missense_Mutation_p.H396L|ZNF33A_uc010qev.1_Missense_Mutation_p.H402L|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 395 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 GCCTTTAGCCATAAGTCAGCC 0.423 NA 11 138 0 0 0 0 ZNF239 8187 broad.mit.edu 37 10 44053142 44053142 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:44053142G>A uc001jaw.3 - 2 1039 c.386C>T c.(385-387)TCG>TTG p.S129L ZNF239_uc001jax.3_Missense_Mutation_p.S129L|ZNF239_uc009xmj.2_Missense_Mutation_p.S129L|ZNF239_uc009xmk.2_Missense_Mutation_p.S129L NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 TAACAATGGCGAGGCCAGTTC 0.413 NA 9 239 0 0 0 0 RGR 5995 broad.mit.edu 37 10 86012692 86012692 + Silent SNP C C A rs141356847 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:86012692C>A uc001kdc.1 + 4 476 c.438C>A c.(436-438)CCC>CCA p.P146P RGR_uc001kdd.1_Silent_p.P150P|RGR_uc001kde.1_Silent_p.P146P NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 146 Helical; Name=4; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 CAGCTCTGCCCCTTCTGGGTT 0.607 NA 9 112 5.17e-11 6.46e-11 1 0 GRID1 2894 broad.mit.edu 37 10 87614257 87614257 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:87614257C>T uc001kdl.1 - 8 1330 c.1229G>A c.(1228-1230)CGC>CAC p.R410H GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 410 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GCTTACCTTGCGCATGTCTTT 0.512 NA Multiple Myeloma(13;0.14) 9 65 0 0 0 0 C10orf96 374355 broad.mit.edu 37 10 118100359 118100359 + Silent SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:118100359C>A uc001lck.2 + 4 530 c.279C>A c.(277-279)ACC>ACA p.T93T NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 93 ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) TTCTTCAAACCTTTGTAAGTT 0.284 NA 11 118 0.00010058 0.000116196 1 0 OR52E2 119678 broad.mit.edu 37 11 5080058 5080058 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:5080058C>T uc010qyw.1 - 1 800 c.800G>A c.(799-801)CGA>CAA p.R267Q NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGGCACATTTCGGCCAAAGCG 0.478 NA 4 101 0 0 0 0 OR52A4 390053 broad.mit.edu 37 11 5142432 5142432 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:5142432C>T uc001lzz.1 - 1 377 c.377G>A c.(376-378)CGC>CAC p.R126H OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CGCTACACAGCGGTCCAGAGC 0.473 NA 5 50 0 0 0 0 OR52B2 255725 broad.mit.edu 37 11 6191298 6191298 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:6191298A>C uc010qzy.1 - 1 259 c.259T>G c.(259-261)TTT>GTT p.F87V NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAAGCCAAAAGATGGCTAGG 0.493 NA 16 160 0 0 0 0 SERGEF 26297 broad.mit.edu 37 11 17981067 17981067 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:17981067G>A uc001mnm.2 - 9 1041 c.961C>T c.(961-963)CCA>TCA p.P321S SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Intron|SERGEF_uc010rcz.1_Intron|SERGEF_uc001mno.1_Missense_Mutation_p.P207S NM_012139 NP_036271 Q9UGK8 SRGEF_HUMAN deafness locus associated putative guanine 321 RCC1 6. negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 CTGTTCGGTGGTCTTGAACAG 0.468 NA 11 76 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22296150 22296150 + Silent SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:22296150C>A uc001mqi.2 + 20 2588 c.2271C>A c.(2269-2271)CCC>CCA p.P757P ANO5_uc001mqj.2_Silent_p.P756P NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 757 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 ACATCATTCCCCGTCTAGTTT 0.358 NA 10 171 0.000978159 0.00110389 1 0 PTPRJ 5795 broad.mit.edu 37 11 48181492 48181492 + Missense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:48181492A>T uc001ngp.3 + 22 3804 c.3449A>T c.(3448-3450)GAG>GTG p.E1150V NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1150 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 ACCAAATGTGAGGAGTATTGG 0.423 NA 16 148 0 0 0 0 APLNR 187 broad.mit.edu 37 11 57003872 57003872 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:57003872C>G uc001njo.2 - 1 1056 c.607G>C c.(607-609)GTC>CTC p.V203L APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 203 Helical; Name=5; (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 GTGGACGAGACCCCAAGGCCC 0.592 NA 8 69 0 0 0 0 ZFP91 80829 broad.mit.edu 37 11 58384739 58384739 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:58384739G>A uc001nmx.3 + 11 1441 c.1273G>A c.(1273-1275)GAC>AAC p.D425N ZFP91_uc001nmy.3_Missense_Mutation_p.D424N|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 425 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ACATGATGCAGACTCCTTCTA 0.428 NA 11 132 0 0 0 0 MS4A6A 64231 broad.mit.edu 37 11 59943062 59943062 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:59943062C>T uc001nor.2 - 5 600 c.362G>A c.(361-363)AGC>AAC p.S121N MS4A6A_uc001noq.2_Missense_Mutation_p.S121N|MS4A6A_uc001nos.3_Missense_Mutation_p.S149N|MS4A6A_uc009ymv.2_Missense_Mutation_p.S121N|MS4A6A_uc001not.2_Missense_Mutation_p.S121N|MS4A6A_uc010rla.1_Missense_Mutation_p.S149N|MS4A6A_uc010rlb.1_Missense_Mutation_p.S76N NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 121 Helical; (Potential). integral to membrane receptor activity 0 ACTCAGAATGCTTCCAACCAG 0.438 NA 35 84 0 0 0 0 INTS5 80789 broad.mit.edu 37 11 62415548 62415548 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:62415548G>A uc001nud.2 - 2 2057 c.2004C>T c.(2002-2004)GCC>GCT p.A668A GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 668 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 GACAGGCTGAGGCCACACCTG 0.612 NA 4 71 0 0 0 0 MAP3K11 4296 broad.mit.edu 37 11 65381159 65381159 + Silent SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:65381159A>C uc001oew.2 - 1 562 c.69T>G c.(67-69)GGT>GGG p.G23G MAP3K11_uc010rol.1_5'Flank|PCNXL3_uc001oey.2_5'Flank NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 23 Gly-rich.|Poly-Gly. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 CGCCCCCACCACCCCCGCTGC 0.667 NA 3 13 0 0 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73074856 73074856 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:73074856G>A uc001otu.2 + 16 5332 c.5311G>A c.(5311-5313)GCG>ACG p.A1771T NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1771 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 GCTCCAGCATGCGGCCTCTGT 0.582 NA 17 85 0 0 0 0 NARS2 79731 broad.mit.edu 37 11 78176976 78176976 + Silent SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:78176976T>C uc001ozi.2 - 11 1486 c.1110A>G c.(1108-1110)CCA>CCG p.P370P NARS2_uc010rsq.1_Silent_p.P143P NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 370 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) TGAGTGTTAATGGATAATTAA 0.428 NA 10 120 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92085715 92085715 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:92085715T>C uc001pdj.3 + 1 454 c.437T>C c.(436-438)ATA>ACA p.I146T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 146 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAAGTGAATATACAGGTTTTA 0.378 NA TCGA Ovarian(4;0.039) 6 61 0 0 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120352147 120352147 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:120352147C>T uc001pxl.1 + 39 4423 c.4416C>T c.(4414-4416)CCC>CCT p.P1472P ARHGEF12_uc009zau.1_Silent_p.P1369P NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1472 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CATTCACCCCCGAATTTCTGG 0.532 NA T MLL AML 6 95 0 0 0 0 SIAE 54414 broad.mit.edu 37 11 124524555 124524555 + Silent SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:124524555G>C uc001qan.2 - 4 653 c.540C>G c.(538-540)ACC>ACG p.T180T NM_170601 NP_733746 Q9HAT2 SIAE_HUMAN sialate O-acetylesterase precursor 180 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) ACATACCTGAGGTGGGCTTAG 0.483 NA 21 234 0 0 0 0 ACAD8 27034 broad.mit.edu 37 11 134131756 134131756 + Missense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:134131756A>T uc001qhk.2 + 9 1125 c.1064A>T c.(1063-1065)AAG>ATG p.K355M ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.K278M|ACAD8_uc001qhl.2_Missense_Mutation_p.K228M NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 355 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) TCCATGGCCAAGCTCTTTGCT 0.582 NA 4 54 0 0 0 0 SCNN1A 6337 broad.mit.edu 37 12 6457162 6457162 + Silent SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:6457162T>C uc001qnx.2 - 13 2176 c.1887A>G c.(1885-1887)CCA>CCG p.P629P SCNN1A_uc001qnv.2_Silent_p.P329P|SCNN1A_uc001qnw.2_Silent_p.P688P|SCNN1A_uc010sfb.1_Silent_p.P652P NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 629 Cytoplasmic (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) gagcagggcctggctgggaca 0.219 NA 4 14 0 0 0 0 RIMKLB 57494 broad.mit.edu 37 12 8926168 8926168 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:8926168T>C uc001quu.2 + 6 1200 c.949T>C c.(949-951)TCC>CCC p.S317P RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.S317P|RIMKLB_uc010sgl.1_Missense_Mutation_p.S317P|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 317 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CCGGCGTATGTCCCTGCTCTC 0.562 NA 29 108 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944862 43944862 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:43944862G>A uc010skx.1 - 2 303 c.303C>T c.(301-303)GCC>GCT p.A101A NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 101 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGTAGCCGGCGGCCAGAAAGG 0.682 NA 8 18 0 0 0 0 ENOX1 55068 broad.mit.edu 37 13 43918857 43918857 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:43918857C>T uc001uza.3 - 9 1153 c.853G>A c.(853-855)GTG>ATG p.V285M ENOX1_uc001uzb.3_Missense_Mutation_p.V285M|ENOX1_uc001uzc.3_Missense_Mutation_p.V285M|ENOX1_uc001uyz.3_Translation_Start_Site|ENOX1_uc010tfm.1_Missense_Mutation_p.V98M NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 285 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GAAAGCAGCACTGTGATAGCC 0.468 NA 8 85 0 0 0 0 KLHL1 57626 broad.mit.edu 37 13 70456501 70456501 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:70456501T>A uc001vip.2 - 5 1935 c.1141A>T c.(1141-1143)ATG>TTG p.M381L KLHL1_uc010thm.1_Missense_Mutation_p.M320L NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 381 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTGACCCACATCATCAATGCA 0.443 NA 27 110 0 0 0 0 DACH1 1602 broad.mit.edu 37 13 72204713 72204713 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:72204713T>A uc010thn.1 - 4 1524 c.1101A>T c.(1099-1101)GAA>GAT p.E367D DACH1_uc010tho.1_Missense_Mutation_p.E367D|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 367 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TGTCCCCGTTTTCAGAGTCTG 0.333 NA 46 473 0 0 0 0 OR4K1 79544 broad.mit.edu 37 14 20404174 20404174 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:20404174G>T uc001vwj.1 + 1 349 c.349G>T c.(349-351)GCT>TCT p.A117S NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTTGCTTGTAGCTATGGCATA 0.418 NA 16 163 0.000422831 0.000483393 1 0 SDCCAG1 9147 broad.mit.edu 37 14 50312960 50312960 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:50312960C>T uc001wxc.2 - 4 323 c.255G>A c.(253-255)CGG>CGA p.R85R SDCCAG1_uc010anj.1_Silent_p.R85R|SDCCAG1_uc010tqi.1_Silent_p.R85R|SDCCAG1_uc001wxe.2_Intron|SDCCAG1_uc010anq.1_5'UTR NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 85 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) TGACTAATCTCCGACTCTTCA 0.343 NA 5 115 0 0 0 0 EXOC5 10640 broad.mit.edu 37 14 57676773 57676773 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:57676773T>G uc001xct.2 - 16 1871 c.1620A>C c.(1618-1620)TTA>TTC p.L540F EXOC5_uc001xcs.2_Missense_Mutation_p.L219F|EXOC5_uc010trg.1_Missense_Mutation_p.L485F|EXOC5_uc010trh.1_Missense_Mutation_p.L475F NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 540 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 TCATACAATTTAATGTCCTAG 0.269 NA 6 30 0 0 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256577 69256577 + Silent SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:69256577A>T uc001xkh.1 - 2 820 c.690T>A c.(688-690)CCT>CCA p.P230P ZFP36L1_uc001xki.1_Silent_p.P230P NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 230 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CGCTCAGAATAGGGGGTGGGG 0.532 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 197 0 0 0 0 MKRN3 7681 broad.mit.edu 37 15 23811027 23811027 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:23811027C>T uc001ywh.3 + 1 574 c.98C>T c.(97-99)CCC>CTC p.P33L MKRN3_uc001ywi.2_Missense_Mutation_p.P33L|MKRN3_uc010ayi.1_Missense_Mutation_p.P33L NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 33 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.P33P(1) lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CCGGACCTTCCCGTCTGTGAG 0.682 NA 8 91 0 0 0 0 RPUSD2 27079 broad.mit.edu 37 15 40866110 40866110 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:40866110C>A uc001zmd.1 + 3 1288 c.1288C>A c.(1288-1290)CTC>ATC p.L430I NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 430 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TGTGCTAGATCTCTGTGAGGG 0.597 NA 16 123 1.16e-05 1.37e-05 1 0 RASGRF1 5923 broad.mit.edu 37 15 79254558 79254558 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:79254558G>T uc002beq.2 - 28 4125 c.3750C>A c.(3748-3750)GAC>GAA p.D1250E RASGRF1_uc002bep.2_Missense_Mutation_p.D1234E|RASGRF1_uc002beo.2_Missense_Mutation_p.D466E NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 1252 Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 CAAAAGATTGGTCCAGTAAAT 0.463 NA 5 21 1.07e-07 1.3e-07 1 0 MTHFS 10588 broad.mit.edu 37 15 80181668 80181668 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:80181668G>A uc002bex.3 - 2 186 c.146C>T c.(145-147)TCC>TTC p.S49F NM_006441 NP_006432 P49914 MTHFS_HUMAN 5,10-methenyltetrahydrofolate synthetase 49 folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process cytosol|Golgi apparatus|plasma membrane 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding 0 all cancers(203;0.00467) AATTCTTTTGGACTTTTGATA 0.378 NA 8 179 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81592045 81592045 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:81592045G>A uc002bgh.3 + 14 2754 c.2378G>A c.(2377-2379)CGC>CAC p.R793H IL16_uc010blq.1_Missense_Mutation_p.R747H|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.R835H|IL16_uc002bgg.2_Missense_Mutation_p.R793H|IL16_uc002bgi.1_Missense_Mutation_p.R183H|IL16_uc002bgj.2_Missense_Mutation_p.R287H|IL16_uc002bgk.2_Missense_Mutation_p.R92H|IL16_uc002bgl.1_Missense_Mutation_p.R92H|IL16_uc010unq.1_Missense_Mutation_p.R92H NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 793 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GCCTGGTTTCGCCAAAGCTTG 0.562 NA 6 134 0 0 0 0 RHBDF1 64285 broad.mit.edu 37 16 110495 110495 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:110495C>T uc002cfl.3 - 15 1748 c.1600G>A c.(1600-1602)GCC>ACC p.A534T NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 534 Lumenal (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) AGCTCTGGGGCGCTGGGATGG 0.632 NA 11 113 0 0 0 0 ABAT 18 broad.mit.edu 37 16 8866736 8866736 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:8866736G>A uc002czc.3 + 12 1082 c.916G>A c.(916-918)GAT>AAT p.D306N ABAT_uc002czd.3_Missense_Mutation_p.D306N|ABAT_uc010buh.2_Missense_Mutation_p.D248N|ABAT_uc010bui.2_Missense_Mutation_p.D306N NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 306 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CCACGCATCCGATGACTTCTT 0.552 NA 5 56 0 0 0 0 ABCC1 4363 broad.mit.edu 37 16 16101762 16101762 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:16101762C>T uc010bvi.2 + 2 313 c.138C>T c.(136-138)CTC>CTT p.L46L ABCC1_uc010bvj.2_Silent_p.L46L|ABCC1_uc010bvk.2_Silent_p.L46L|ABCC1_uc010bvl.2_Silent_p.L46L|ABCC1_uc010bvm.2_Silent_p.L46L|ABCC1_uc002del.3_5'Flank NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 46 Helical; Name=1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTTTTTACCTCTGGGCCTGTT 0.507 NA 16 201 0 0 0 0 PRKCB 5579 broad.mit.edu 37 16 24192240 24192240 + Silent SNP C C A rs17847876 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:24192240C>A uc002dmd.2 + 13 1721 c.1524C>A c.(1522-1524)ATC>ATA p.I508I PRKCB_uc002dme.2_Silent_p.I508I NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 508 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) CAGACTACATCGCCCCCGAGG 0.542 NA 15 130 7.93e-07 9.52e-07 1 0 NAE1 8883 broad.mit.edu 37 16 66837006 66837006 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:66837006T>C uc002eqf.2 - 20 1588 c.1511A>G c.(1510-1512)GAG>GGG p.E504G NAE1_uc002eqe.2_Missense_Mutation_p.E498G|NAE1_uc002eqg.2_Missense_Mutation_p.E415G|NAE1_uc010cdv.2_Missense_Mutation_p.E507G|CCDC79_uc010viv.1_5'Flank|CCDC79_uc002eqc.1_5'Flank|CCDC79_uc002eqd.1_5'Flank NM_003905 NP_003896 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 isoform a 504 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TTTGATGACCTCTTGAGCAGC 0.328 NA 7 63 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578247 7578247 + Nonsense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:7578247A>T uc002gim.2 - 6 796 c.602T>A c.(601-603)TTG>TAG p.L201* TP53_uc002gig.1_Nonsense_Mutation_p.L201*|TP53_uc002gih.2_Nonsense_Mutation_p.L201*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.L69*|TP53_uc010cng.1_Nonsense_Mutation_p.L69*|TP53_uc002gii.1_Nonsense_Mutation_p.L69*|TP53_uc010cnh.1_Nonsense_Mutation_p.L201*|TP53_uc010cni.1_Nonsense_Mutation_p.L201*|TP53_uc002gij.2_Nonsense_Mutation_p.L201*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.L108*|TP53_uc002gio.2_Nonsense_Mutation_p.L69*|TP53_uc010vug.1_Nonsense_Mutation_p.L162* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 201 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L201F(7)|p.L201fs*46(4)|p.K164_P219del(1)|p.E198_L201>V(1)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*8(1)|p.P191fs*6(1)|p.L201_R202>FC(1)|p.L201L(1)|p.G199fs*42(1)|p.L201*(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) CTCCACACGCAAATTTCCTTC 0.552 111 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) 18 64 0 0 0 0 PFAS 5198 broad.mit.edu 37 17 8170877 8170877 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:8170877C>T uc002gkr.2 + 26 3417 c.3276C>T c.(3274-3276)GAC>GAT p.D1092D PFAS_uc010vuv.1_Silent_p.D668D|PFAS_uc002gks.2_Silent_p.D171D NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1092 Glutamine amidotransferase type-1. 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGGTATGGGACGTGACCATGC 0.637 NA 18 155 0 0 0 0 CDRT1 374286 broad.mit.edu 37 17 15522822 15522822 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:15522822T>C uc002gov.3 - 1 197 c.5A>G c.(4-6)GAA>GGA p.E2G TRIM16_uc002gor.1_Intron NM_006382 NP_006373 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 2 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) TTCCAGGTTTTCCATGATCCT 0.498 NA 10 486 0 0 0 0 SEBOX 645832 broad.mit.edu 37 17 26691847 26691847 + Nonsense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:26691847C>T uc010wai.1 - 2 254 c.240G>A c.(238-240)TGG>TGA p.W80* SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Nonsense_Mutation_p.W79*|SARM1_uc010waj.1_Intron NM_001080837 NP_001074306 Q9HB31 SEBOX_HUMAN SEBOX homeobox isoform 1 80 Homeobox. cell differentiation|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GGCAAGTGACCCAGGCCAGGT 0.607 NA 4 53 0 0 0 0 FOXN1 8456 broad.mit.edu 37 17 26862068 26862068 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:26862068G>T uc010crm.2 + 8 1677 c.1479G>T c.(1477-1479)CTG>CTT p.L493L FOXN1_uc002hbj.2_Silent_p.L493L NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 493 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) ACTCGCCTCTGCCTGCCCACA 0.692 NA 25 68 1.18e-14 1.51e-14 1 0 SLFN13 146857 broad.mit.edu 37 17 33767957 33767957 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:33767957G>T uc002hjk.1 - 4 2681 c.2351C>A c.(2350-2352)ACT>AAT p.T784N SLFN13_uc010wch.1_Missense_Mutation_p.T784N|SLFN13_uc002hjl.2_Missense_Mutation_p.T784N|SLFN13_uc010ctt.2_Missense_Mutation_p.T466N|SLFN13_uc002hjm.2_Missense_Mutation_p.T453N NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 784 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTGCTCCAAAGTAAAGTTTTT 0.443 NA 34 103 1.62e-16 2.09e-16 1 0 TAF15 8148 broad.mit.edu 37 17 34171147 34171147 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:34171147G>T uc002hkd.2 + 13 1159 c.1073G>T c.(1072-1074)TGG>TTG p.W358L TAF15_uc010ctw.1_RNA|TAF15_uc002hkc.2_Missense_Mutation_p.W355L NM_139215 NP_631961 Q92804 RBP56_HUMAN TBP-associated factor 15 isoform 1 358 RanBP2-type.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) bone(33)|lung(1)|skin(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AGTGGGGATTGGGTTTGCCCT 0.527 NA T TEC|CHN1|ZNF384 extraskeletal myxoid chondrosarcomas|ALL 17 212 1.45e-14 1.85e-14 1 0 GRN 2896 broad.mit.edu 37 17 42428419 42428419 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:42428419C>T uc002igp.1 + 8 942 c.723C>T c.(721-723)TCC>TCT p.S241S GRN_uc002igr.1_Silent_p.S35S NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 241 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCTGCTGCTCCGATCACCTGC 0.607 NA OREG0024459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 116 0 0 0 0 HOXB1 3211 broad.mit.edu 37 17 46607812 46607812 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:46607812A>C uc002ink.1 - 1 461 c.455T>G c.(454-456)TTT>TGT p.F152C NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 152 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGCCGGTGCAAAGCTCGCGGT 0.622 NA 9 85 0 0 0 0 HOXB6 3216 broad.mit.edu 37 17 46673816 46673816 + Nonsense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:46673816G>A uc002ins.1 - 4 959 c.634C>T c.(634-636)CAG>TAG p.Q212* HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Nonsense_Mutation_p.Q212*|HOXB6_uc002int.1_3'UTR NM_018952 NP_061825 P17509 HXB6_HUMAN homeobox B6 212 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCACTGAGCTGAGACGCGCTG 0.602 NA 7 391 0 0 0 0 CSHL1 1444 broad.mit.edu 37 17 61987866 61987866 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:61987866A>C uc002jda.1 - 3 282 c.220T>G c.(220-222)TCA>GCA p.S74A CSHL1_uc002jcz.1_Intron|CSHL1_uc002jdb.1_Translation_Start_Site|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc002jde.2_Missense_Mutation_p.I171M|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Missense_Mutation_p.I143M|CSHL1_uc002jdh.2_Translation_Start_Site NM_022579 NP_072101 Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 74 extracellular region hormone activity|metal ion binding 0 TGCAGGAATGAATACTTCTGT 0.507 NA 15 248 0 0 0 0 ERN1 2081 broad.mit.edu 37 17 62144284 62144284 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:62144284G>C uc002jdz.2 - 8 702 c.589C>G c.(589-591)CAC>GAC p.H197D NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 197 Lumenal (Potential). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 GACACAAAGTGGGACATCTCT 0.502 NA 3 39 0 0 0 0 ZNF519 162655 broad.mit.edu 37 18 14105333 14105333 + Silent SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr18:14105333T>C uc002kst.1 - 3 1359 c.1206A>G c.(1204-1206)AAA>AAG p.K402K ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTTGAAAGGTTTCTCTCCAG 0.403 NA 6 216 0 0 0 0 DSG2 1829 broad.mit.edu 37 18 29110982 29110982 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr18:29110982C>T uc002kwu.3 + 9 1235 c.1047C>T c.(1045-1047)GAC>GAT p.D349D NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 349 Extracellular (Potential).|Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGAATCTTGACTTCAGTGTTA 0.343 NA 40 110 0 0 0 0 AES 166 broad.mit.edu 37 19 3055690 3055690 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:3055690G>C uc002lwy.1 - 5 442 c.269C>G c.(268-270)GCC>GGC p.A90G AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.A90G|AES_uc002lxa.1_Missense_Mutation_p.A34G|AES_uc002lxb.1_Missense_Mutation_p.A157G|AES_uc002lxc.2_Missense_Mutation_p.A157G NM_001130 NP_001121 Q08117 AES_HUMAN amino-terminal enhancer of split isoform b 90 Gln-rich (Q domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGACCTGGGCACAAATCCC 0.637 NA 9 114 0 0 0 0 TJP3 27134 broad.mit.edu 37 19 3735583 3735583 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:3735583C>T uc010xhv.1 + 8 1105 c.1105C>T c.(1105-1107)CGG>TGG p.R369W TJP3_uc010xhs.1_Missense_Mutation_p.R336W|TJP3_uc010xht.1_Missense_Mutation_p.R300W|TJP3_uc010xhu.1_Missense_Mutation_p.R345W|TJP3_uc010xhw.1_Missense_Mutation_p.R355W NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 350 tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGCTTCGGCGGGAAAGTTC 0.493 NA 21 206 0 0 0 0 TMIGD2 126259 broad.mit.edu 37 19 4292705 4292705 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:4292705C>A uc002lzx.1 - 5 786 c.740G>T c.(739-741)TGC>TTC p.C247F TMIGD2_uc010dtv.1_Missense_Mutation_p.C243F NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 247 Pro-rich.|Cytoplasmic (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) ggggctggggcagggtctcgg 0.493 NA 7 88 0.00307968 0.00342273 1 0 LRRC8E 80131 broad.mit.edu 37 19 7964965 7964965 + Nonsense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:7964965C>T uc002mir.2 + 3 1659 c.1558C>T c.(1558-1560)CAG>TAG p.Q520* NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 520 LRR 1. integral to membrane lung(1)|pancreas(1) 2 GCTTTTCCCCCAGGAGCTAGC 0.657 NA 5 32 0 0 0 0 LASS4 79603 broad.mit.edu 37 19 8321168 8321168 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:8321168C>A uc002mjg.2 + 7 837 c.517C>A c.(517-519)CAG>AAG p.Q173K LASS4_uc002mjh.2_Missense_Mutation_p.Q122K|LASS4_uc002mji.2_Missense_Mutation_p.Q9K|LASS4_uc010dvz.2_Missense_Mutation_p.Q173K NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 173 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 GTACCCAAACCAGGTGAGTGG 0.572 NA 5 31 3.6e-05 4.21e-05 1 0 ANGPTL4 51129 broad.mit.edu 37 19 8436298 8436298 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:8436298C>A uc002mjq.1 + 6 1126 c.931C>A c.(931-933)CAG>AAG p.Q311K ANGPTL4_uc002mjr.1_Missense_Mutation_p.Q273K|ANGPTL4_uc010xkc.1_Missense_Mutation_p.Q144K NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 protein isoform a precursor 311 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding ovary(1) 1 CGTGGCCGGCCAGCTGGGCGC 0.672 NA 6 55 8.13e-05 9.41e-05 1 0 KEAP1 9817 broad.mit.edu 37 19 10602764 10602764 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:10602764G>A uc002moq.1 - 3 970 c.814C>T c.(814-816)CGC>TGC p.R272C KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.R272C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 272 BACK. 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) GAGTGGCAGCGCACGGCCCGC 0.617 NA 10 60 0 0 0 0 QTRT1 81890 broad.mit.edu 37 19 10822906 10822906 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:10822906T>G uc002mpr.2 + 6 741 c.716T>G c.(715-717)TTC>TGC p.F239C DNM2_uc010dxk.2_5'Flank NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 239 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) AAGTCGCAGTTCTGGCGGATG 0.622 NA 10 107 0 0 0 0 DNAJB1 3337 broad.mit.edu 37 19 14627517 14627517 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:14627517T>C uc002myz.1 - 2 593 c.553A>G c.(553-555)ATC>GTC p.I185V DNAJB1_uc010xnr.1_Missense_Mutation_p.I85V NM_006145 NP_006136 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 185 chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(1328;0.0476) TTGTGGGAGATTTTCATCTTC 0.502 NA 30 341 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728598 20728598 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:20728598C>G uc002npa.2 - 4 591 c.411G>C c.(409-411)TTG>TTC p.L137F NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 137 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GAGTAGTTGTCAAATATTGGT 0.299 NA 8 47 0 0 0 0 CCDC123 84902 broad.mit.edu 37 19 33370188 33370188 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:33370188G>A uc002nty.2 - 19 2321 c.2232C>T c.(2230-2232)GGC>GGT p.G744G CCDC123_uc002ntx.2_Silent_p.G497G|CCDC123_uc010edg.2_RNA NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 744 centrosome|spindle pole 0 Esophageal squamous(110;0.137) TGTCCTGCACGCCTGTCCTCG 0.537 NA 21 255 0 0 0 0 CYP2S1 29785 broad.mit.edu 37 19 41712380 41712380 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:41712380C>G uc002opw.2 + 9 1557 c.1502C>G c.(1501-1503)ACG>AGG p.T501R CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Missense_Mutation_p.T226R NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 501 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 CACTCCACCACGCAGACCAGA 0.602 NA 17 207 0 0 0 0 ZNF229 7772 broad.mit.edu 37 19 44933099 44933099 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:44933099C>A uc002oze.1 - 6 2291 c.1857G>T c.(1855-1857)CAG>CAT p.Q619H ZNF229_uc010ejk.1_Missense_Mutation_p.Q273H|ZNF229_uc010ejl.1_Missense_Mutation_p.Q613H NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 619 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) TGTGGACCCTCTGATGGATAA 0.547 NA 11 156 3.86e-05 4.51e-05 1 0 TTYH1 57348 broad.mit.edu 37 19 54946764 54946764 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:54946764G>A uc002qfq.2 + 11 1260 c.1168G>A c.(1168-1170)GAA>AAA p.E390K TTYH1_uc010yey.1_Missense_Mutation_p.G420E|TTYH1_uc002qfr.2_Missense_Mutation_p.E390K|TTYH1_uc002qft.2_Missense_Mutation_p.E390K NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 390 Extracellular (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) AGACGCCCTGGAAGGCCTGCT 0.687 NA 8 87 0 0 0 0 LILRA1 11024 broad.mit.edu 37 19 55105660 55105660 + Splice_Site SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:55105660A>T uc002qgh.1 + 2 135 c.-47_splice c.e2-2 LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_5'Flank NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CTGTCCTGCCAGCACCGAGGG 0.582 NA 11 94 0 0 0 0 BRSK1 84446 broad.mit.edu 37 19 55815119 55815119 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:55815119G>A uc002qkg.2 + 12 1488 c.1211G>A c.(1210-1212)AGC>AAC p.S404N BRSK1_uc002qkf.2_Missense_Mutation_p.S420N|BRSK1_uc002qkh.2_Missense_Mutation_p.S99N NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 404 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GAAGTCCTGAGCATCACCGAT 0.662 NA 11 158 0 0 0 0 USP29 57663 broad.mit.edu 37 19 57641043 57641043 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:57641043C>A uc002qny.2 + 4 1356 c.1000C>A c.(1000-1002)CAG>AAG p.Q334K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 334 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GACCTTGACCCAGCTGCTTGC 0.378 NA 19 198 7.45e-12 9.4e-12 1 0 ZNF772 400720 broad.mit.edu 37 19 57985605 57985605 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:57985605C>T uc002qot.2 - 5 768 c.507G>A c.(505-507)CAG>CAA p.Q169Q ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.Q128Q|ZNF772_uc010ygz.1_Silent_p.Q57Q|ZNF772_uc010yha.1_Silent_p.Q115Q|ZNF772_uc002qou.2_Silent_p.Q57Q NM_001024596 NP_001019767 Q68DY9 ZN772_HUMAN zinc finger protein 772 isoform 1 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) TGTATGGTTTCTGCCCTGGGT 0.507 NA 12 176 0 0 0 0 ZIK1 284307 broad.mit.edu 37 19 58101682 58101682 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:58101682G>A uc002qpg.2 + 4 600 c.503G>A c.(502-504)CGC>CAC p.R168H ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.R113H|ZIK1_uc002qpi.2_Missense_Mutation_p.R155H|ZIK1_uc002qpj.2_Missense_Mutation_p.R65H NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAGCCCTTTCGCAAATGGGAG 0.502 NA 5 81 0 0 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:58385762C>G uc002qqo.2 - 3 1268 c.996G>C c.(994-996)TCG>TCC p.S332S ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 ATTTGCTAAACGATTTCCCAC 0.358 NA 2 7 0 0 0 0 ITSN2 50618 broad.mit.edu 37 2 24432687 24432687 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:24432687C>T uc002rfe.2 - 35 4731 c.4473G>A c.(4471-4473)ACG>ACA p.T1491T ITSN2_uc002rff.2_Silent_p.T1464T NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1491 PH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATACTCACCGTTTTATACA 0.502 NA 5 108 0 0 0 0 RASGRP3 25780 broad.mit.edu 37 2 33784037 33784037 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:33784037C>T uc002rox.2 + 18 2631 c.2004C>T c.(2002-2004)GAC>GAT p.D668D RASGRP3_uc010ync.1_Silent_p.D668D|RASGRP3_uc002roy.2_Silent_p.D667D NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 668 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) ATGTTGTAGACCGGGGCACGG 0.483 NA 9 36 0 0 0 0 RHOQ 23433 broad.mit.edu 37 2 46803235 46803235 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:46803235G>A uc002rva.2 + 3 530 c.211G>A c.(211-213)GAC>AAC p.D71N uc002rvb.2_Intron NM_012249 NP_036381 P17081 RHOQ_HUMAN ras-like protein TC10 precursor 71 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GGAAGACTATGACCGTCTGAG 0.373 NA 11 113 0 0 0 0 EPCAM 4072 broad.mit.edu 37 2 47602414 47602414 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:47602414C>A uc002rvx.2 + 4 825 c.467C>A c.(466-468)CCT>CAT p.P156H EPCAM_uc002rvw.2_Missense_Mutation_p.P184H|MIR559_hsa-mir-559|MI0003565_5'Flank NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 156 Extracellular (Potential). positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 AGAGAAAAACCTTATGATAGT 0.348 NA Lynch_syndrome 15 56 3.52e-12 4.45e-12 1 0 ACTG2 72 broad.mit.edu 37 2 74129609 74129609 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:74129609G>A uc002sjw.2 + 3 371 c.249G>A c.(247-249)ATG>ATA p.M83I ACTG2_uc010fex.1_Missense_Mutation_p.M83I|ACTG2_uc010fey.2_Missense_Mutation_p.M83I|ACTG2_uc010yrn.1_Intron NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 83 muscle contraction cytoskeleton|cytosol ATP binding 0 GGGATGACATGGAGAAGGTAT 0.453 NA 11 61 0 0 0 0 MGAT4A 11320 broad.mit.edu 37 2 99279521 99279521 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:99279521G>T uc002sze.2 - 5 839 c.525C>A c.(523-525)GTC>GTA p.V175V MGAT4A_uc010yvm.1_Silent_p.V47V|MGAT4A_uc010fil.2_5'UTR|MGAT4A_uc010fim.1_Silent_p.V47V NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 175 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 CTCCTATGAAGACTACTATAA 0.303 NA 29 268 0.000184323 0.000211827 1 0 LRP1B 53353 broad.mit.edu 37 2 141081587 141081587 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:141081587C>T uc002tvj.1 - 81 13361 c.12389G>A c.(12388-12390)GGA>GAA p.G4130E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4130 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGGTCCTGCTCCATATATATA 0.299 NA TSP Lung(27;0.18) 8 150 0 0 0 0 RIF1 55183 broad.mit.edu 37 2 152324520 152324520 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:152324520C>T uc002txm.2 + 31 6737 c.6607C>T c.(6607-6609)CGT>TGT p.R2203C RIF1_uc002txl.2_Missense_Mutation_p.R2203C|RIF1_uc002txn.2_Missense_Mutation_p.R2203C|RIF1_uc002txo.2_Missense_Mutation_p.R2203C|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 2203 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TCAGGTTCGCCGTGTCTCCTT 0.358 NA 25 165 0 0 0 0 WIPF1 7456 broad.mit.edu 37 2 175450340 175450340 + Splice_Site SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:175450340C>T uc002uiy.2 - 3 295 c.-37_splice c.e3-1 uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Splice_Site|WIPF1_uc010fqt.1_Splice_Site|WIPF1_uc002ujc.1_Splice_Site|WIPF1_uc002uiz.2_Splice_Site|WIPF1_uc002ujb.1_Splice_Site|WIPF1_uc010zep.1_Splice_Site NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GCTGATAAATCTGGAAAAACA 0.493 NA 8 57 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179638332 179638332 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:179638332T>G uc010zfg.1 - 32 7675 c.7451A>C c.(7450-7452)CAA>CCA p.Q2484P TTN_uc010zfh.1_Missense_Mutation_p.Q2438P|TTN_uc010zfi.1_Missense_Mutation_p.Q2438P|TTN_uc010zfj.1_Missense_Mutation_p.Q2438P|TTN_uc002unb.2_Missense_Mutation_p.Q2484P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2484 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) AGGCTTGATTTGTTCATCATT 0.428 NA 14 185 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179650801 179650801 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:179650801C>G uc010zfg.1 - 14 2368 c.2144G>C c.(2143-2145)AGA>ACA p.R715T TTN_uc010zfh.1_Missense_Mutation_p.R669T|TTN_uc010zfi.1_Missense_Mutation_p.R669T|TTN_uc010zfj.1_Missense_Mutation_p.R669T|TTN_uc002unb.2_Missense_Mutation_p.R715T|TTN_uc010frg.1_Missense_Mutation_p.R297T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 715 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) TCTGGGCTCTCTGACTCGGGC 0.502 NA 8 85 0 0 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803488 185803488 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:185803488T>A uc002uph.2 + 4 3959 c.3365T>A c.(3364-3366)TTT>TAT p.F1122Y NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1122 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 gcagGAACCTTTAAAGTGCTT 0.348 NA 7 70 0 0 0 0 BTBD3 22903 broad.mit.edu 37 20 11903518 11903518 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:11903518C>A uc002wnz.2 + 4 1132 c.773C>A c.(772-774)TCT>TAT p.S258Y BTBD3_uc002wny.2_Missense_Mutation_p.S197Y|BTBD3_uc002woa.2_Missense_Mutation_p.S197Y|BTBD3_uc010zrf.1_Missense_Mutation_p.S107Y|BTBD3_uc010zrg.1_Missense_Mutation_p.S107Y|BTBD3_uc010zrh.1_Missense_Mutation_p.S107Y NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 258 ovary(2)|central_nervous_system(1) 3 GCTCTCAAGTCTGAGGGATTC 0.517 NA 13 117 1.5e-05 1.76e-05 1 0 KIF16B 55614 broad.mit.edu 37 20 16359952 16359952 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:16359952C>T uc002wpg.1 - 19 2853 c.2695G>A c.(2695-2697)GAG>AAG p.E899K KIF16B_uc002wpe.1_Missense_Mutation_p.E281K|KIF16B_uc002wpf.1_Missense_Mutation_p.E281K|KIF16B_uc010gch.1_Missense_Mutation_p.E899K|KIF16B_uc010gci.1_Missense_Mutation_p.E899K|KIF16B_uc010gcj.1_Missense_Mutation_p.E910K NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 899 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 AGCCTGTACTCCACTGGCTTT 0.413 NA 16 217 0 0 0 0 ENTPD6 955 broad.mit.edu 37 20 25205950 25205950 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:25205950G>T uc002wuj.2 + 14 1533 c.1353G>T c.(1351-1353)CTG>CTT p.L451L ENTPD6_uc010zsz.1_Silent_p.L233L|ENTPD6_uc002wum.2_Silent_p.L434L|ENTPD6_uc010zta.1_Nonsense_Mutation_p.E466*|ENTPD6_uc002wun.2_Nonsense_Mutation_p.E432*|ENTPD6_uc002wuk.2_Silent_p.L450L|ENTPD6_uc002wul.2_Nonsense_Mutation_p.E465*|ENTPD6_uc010ztb.1_Nonsense_Mutation_p.E438*|ENTPD6_uc010ztc.1_Silent_p.L423L|ENTPD6_uc002wuo.2_Silent_p.L203L|ENTPD6_uc010ztd.1_Silent_p.L199L|ENTPD6_uc010gdk.1_RNA|ENTPD6_uc010gdl.1_RNA NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 451 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 GCAAAGTGCTGAAGGTAAGGG 0.612 NA 9 41 0.000673444 0.000763933 1 0 PTPRT 11122 broad.mit.edu 37 20 40739003 40739003 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:40739003G>A uc002xkg.2 - 23 3408 c.3224C>T c.(3223-3225)CCG>CTG p.P1075L PTPRT_uc010ggj.2_Missense_Mutation_p.P1094L|PTPRT_uc010ggi.2_Missense_Mutation_p.P278L NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1075 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCAGCTTCCGGGGGGTTGAG 0.453 NA 22 72 0 0 0 0 EYA2 2139 broad.mit.edu 37 20 45725801 45725801 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:45725801C>T uc002xsm.2 + 9 1256 c.882C>T c.(880-882)TAC>TAT p.Y294Y EYA2_uc010ghp.2_Silent_p.Y294Y|EYA2_uc002xsn.2_Silent_p.Y299Y|EYA2_uc002xso.2_Silent_p.Y294Y|EYA2_uc002xsp.2_Silent_p.Y294Y|EYA2_uc002xsq.2_Silent_p.Y294Y NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 294 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) CATCCAGATACGGGAAGGTAA 0.423 NA 29 275 0 0 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296445 28296446 + Missense_Mutation DNP CG CG TT rs75336666 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr21:28296445_28296446CG>TT uc002ymg.2 - 8 3448_3449 c.2719_2720CG>AA c.(2719-2721)CGG>AAG p.R907K NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 907 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TGCTAACTTCCGGTTTCCATCC 0.53 NA 13 103 0 0 0 0 RWDD2B 10069 broad.mit.edu 37 21 30380094 30380094 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr21:30380094T>A uc002yms.2 - 4 800 c.713A>T c.(712-714)GAA>GTA p.E238V RWDD2B_uc002ymt.2_Missense_Mutation_p.E209V|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.E158V NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 238 0 TGACCAGAATTCTTCACAGGC 0.338 NA 37 96 0 0 0 0 SEC14L3 266629 broad.mit.edu 37 22 30858091 30858091 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr22:30858091G>C uc003ahy.2 - 9 842 c.753C>G c.(751-753)AAC>AAG p.N251K SEC14L3_uc003ahz.2_Missense_Mutation_p.N174K|SEC14L3_uc003aia.2_Missense_Mutation_p.N192K|SEC14L3_uc003aib.2_Missense_Mutation_p.N192K NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 251 integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) AACATTTGGGGTTCCCATCTG 0.473 NA 8 37 0 0 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120563 38120563 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr22:38120563T>C uc003atr.2 + 7 2271 c.2000T>C c.(1999-2001)ATC>ACC p.I667T TRIOBP_uc003atu.2_Missense_Mutation_p.I495T|TRIOBP_uc003atq.1_Missense_Mutation_p.I667T|TRIOBP_uc003ats.1_Missense_Mutation_p.I495T NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 667 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) AACAGAACCATCCAACAAGAG 0.572 NA 3 96 0 0 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806357 97806357 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:97806357G>T uc011bgs.1 + 1 341 c.341G>T c.(340-342)TGC>TTC p.C114F NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ACTACAGAATGCTTCCTCCTG 0.448 NA 23 380 9.63e-23 1.25e-22 1 0 PRR23A 729627 broad.mit.edu 37 3 138724783 138724783 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:138724783C>T uc011bms.1 - 1 328 c.328G>A c.(328-330)GAA>AAA p.E110K NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN proline rich 23A 110 0 CCTGAGCGTTCGTCGACAGAG 0.617 NA 6 42 0 0 0 0 HPS3 84343 broad.mit.edu 37 3 148880620 148880620 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:148880620G>C uc003ewu.1 + 13 2576 c.2436G>C c.(2434-2436)AAG>AAC p.K812N CP_uc011bnr.1_RNA|HPS3_uc011bnq.1_Missense_Mutation_p.K647N|HPS3_uc003ewv.1_RNA NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 812 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GATTGTCTAAGAGGCAGCCTC 0.423 NA Hermansky-Pudlak_syndrome 22 152 0 0 0 0 DHX36 170506 broad.mit.edu 37 3 154022955 154022955 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:154022955C>T uc003ezy.3 - 7 977 c.896G>A c.(895-897)CGG>CAG p.R299Q DHX36_uc010hvq.2_Missense_Mutation_p.R299Q|DHX36_uc003ezz.3_Missense_Mutation_p.R299Q NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 299 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CCTTGGCAACCGACTGTGAAT 0.353 NA 4 79 0 0 0 0 NCEH1 57552 broad.mit.edu 37 3 172365794 172365794 + Silent SNP G G C rs141870427 byFrequency TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:172365794G>C uc011bpx.1 - 2 483 c.345C>G c.(343-345)ACC>ACG p.T115T NCEH1_uc003fig.2_Silent_p.T115T|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron NM_001146276 NP_001139748 Q6PIU2 NCEH1_HUMAN arylacetamide deacetylase-like 1 isoform a 83 Lumenal (Potential). lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity 0 AGTCTGTGTCGGTCACCTTCA 0.512 NA 4 124 0 0 0 0 CLCN2 1181 broad.mit.edu 37 3 184071144 184071144 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:184071144C>T uc003foi.2 - 17 2046 c.1922G>A c.(1921-1923)AGC>AAC p.S641N CLCN2_uc003foh.2_Missense_Mutation_p.S165N|CLCN2_uc010hya.1_Missense_Mutation_p.S624N|CLCN2_uc011brl.1_Missense_Mutation_p.S641N|CLCN2_uc011brm.1_Missense_Mutation_p.S597N NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 641 Cytoplasmic (By similarity).|CBS 1. chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCGGGCTGGGCTCAGCTGGGC 0.627 NA 16 79 0 0 0 0 ATP13A3 79572 broad.mit.edu 37 3 194182898 194182898 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:194182898T>C uc003fty.3 - 2 424 c.22A>G c.(22-24)ACC>GCC p.T8A NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 8 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGATTGATGGTCTTCCTTTCT 0.408 NA 10 138 0 0 0 0 BST1 683 broad.mit.edu 37 4 15716972 15716972 + Missense_Mutation SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:15716972A>G uc003goh.3 + 5 794 c.599A>G c.(598-600)TAT>TGT p.Y200C BST1_uc003goi.2_Missense_Mutation_p.Y11C NM_004334 NP_004325 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 precursor 200 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1) 1 ACAGGAGCCTATCCCATCAAA 0.368 NA 13 76 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69885646 69885646 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:69885646A>C uc011cao.1 - 4 479 c.343T>G c.(343-345)TAT>GAT p.Y115D UGT2B10_uc011can.1_Missense_Mutation_p.Y115D P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 152 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 CAGGGTAAATAAGCATCTGCA 0.378 NA 13 147 0 0 0 0 SULT1E1 6783 broad.mit.edu 37 4 70713474 70713474 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:70713474C>G uc003heo.2 - 6 646 c.533G>C c.(532-534)TGG>TCG p.W178S NM_005420 NP_005411 P49888 ST1E1_HUMAN estrogen sulfotransferase 178 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity ovary(1) 1 CTTTTCCCACCAAGATTTTAC 0.373 NA 50 129 0 0 0 0 GRID2 2895 broad.mit.edu 37 4 94006200 94006200 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:94006200C>T uc011cdt.1 + 3 557 c.299C>T c.(298-300)ACG>ATG p.T100M GRID2_uc010ikx.2_Missense_Mutation_p.T100M|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 100 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTGGCTGCACGTCAGCAGGA 0.522 NA 6 99 0 0 0 0 ADH1B 125 broad.mit.edu 37 4 100232742 100232742 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:100232742C>T uc003hus.3 - 7 984 c.900G>A c.(898-900)CAG>CAA p.Q300Q ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.Q260Q|ADH1B_uc011ceh.1_Silent_p.Q145Q|ADH1B_uc011cei.1_Silent_p.Q260Q NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 300 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TTGAGAGGTTCTGGGAAGCAG 0.463 NA 19 260 0 0 0 0 TBCK 93627 broad.mit.edu 37 4 107016640 107016640 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:107016640T>A uc010ilv.2 - 25 2935 c.2570A>T c.(2569-2571)GAG>GTG p.E857V TBCK_uc003hyb.2_Missense_Mutation_p.E600V|TBCK_uc003hye.2_Missense_Mutation_p.E818V|TBCK_uc003hyc.2_Missense_Mutation_p.E794V|TBCK_uc003hyd.2_Missense_Mutation_p.E685V|TBCK_uc003hyf.2_Missense_Mutation_p.E857V NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 857 Rhodanese. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 TATACTTACCTCAGCTGTGTG 0.428 NA 19 90 0 0 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972591 110972591 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:110972591C>A uc003hzz.2 - 5 827 c.701G>T c.(700-702)TGG>TTG p.W234L ELOVL6_uc003iaa.2_Missense_Mutation_p.W234L NM_001130721 NP_001124193 Q9H5J4 ELOV6_HUMAN elongation of very long chain fatty acids-like 234 Helical; (Potential). fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding haematopoietic_and_lymphoid_tissue(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00462) GAGTGAGGACCAGAAGATGTT 0.473 NA 13 152 0.00185496 0.00207208 1 0 ANK2 287 broad.mit.edu 37 4 114209630 114209630 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:114209630C>T uc003ibe.3 + 20 2365 c.2265C>T c.(2263-2265)AAC>AAT p.N755N ANK2_uc003ibd.3_Silent_p.N734N|ANK2_uc003ibf.3_Silent_p.N755N|ANK2_uc003ibc.2_Silent_p.N731N|ANK2_uc011cgb.1_Silent_p.N770N NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 755 ANK 22. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAAATGTTAACGCAAAAACCA 0.373 NA 15 68 0 0 0 0 USP53 54532 broad.mit.edu 37 4 120190943 120190943 + Silent SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:120190943A>G uc003ics.3 + 14 2452 c.1386A>G c.(1384-1386)CAA>CAG p.Q462Q USP53_uc003icr.3_Silent_p.Q462Q|USP53_uc003icu.3_Silent_p.Q85Q|USP53_uc003ict.2_Silent_p.Q85Q NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 462 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 TTTCTTCACAAAGGAAAGATT 0.318 NA 9 163 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123147888 123147888 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:123147888G>C uc003ieh.2 + 22 2865 c.2820G>C c.(2818-2820)CAG>CAC p.Q940H KIAA1109_uc003iei.1_Missense_Mutation_p.Q693H|KIAA1109_uc010ins.1_Missense_Mutation_p.Q283H|KIAA1109_uc003iej.1_3'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 940 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGTGGGGACAGACATTTGTTT 0.413 NA 20 294 0 0 0 0 FSTL5 56884 broad.mit.edu 37 4 162307204 162307204 + Missense_Mutation SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:162307204A>G uc003iqh.2 - 16 2675 c.2239T>C c.(2239-2241)TCC>CCC p.S747P FSTL5_uc003iqi.2_Missense_Mutation_p.S746P|FSTL5_uc010iqv.2_Missense_Mutation_p.S737P|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 747 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) TCAGTAAAGGATGGTTGAAAT 0.408 NA 17 142 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187541443 187541443 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:187541443G>A uc003izf.2 - 10 6485 c.6297C>T c.(6295-6297)GTC>GTT p.V2099V NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2099 Extracellular (Potential).|Cadherin 19. 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 CATAGCGAATGACATGGCCCA 0.473 NA HNSCC(5;0.00058) 30 255 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11364871 11364871 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:11364871G>T uc003jfa.1 - 8 1454 c.1309C>A c.(1309-1311)CTC>ATC p.L437I CTNND2_uc010itt.2_Missense_Mutation_p.L346I|CTNND2_uc011cmy.1_Missense_Mutation_p.L100I|CTNND2_uc011cmz.1_Missense_Mutation_p.L4I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.L4I NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 437 ARM 1. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CTCTGGCTGAGACTCCTCATA 0.627 NA 6 66 4.1e-09 5.07e-09 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576465 33576465 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:33576465G>T uc003jia.1 - 19 3829 c.3666C>A c.(3664-3666)CCC>CCA p.P1222P ADAMTS12_uc010iuq.1_Silent_p.P1137P NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1222 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GCCTTTGGCTGGGGAGCAGTC 0.557 NA HNSCC(64;0.19) 43 140 1.69e-10 2.1e-10 1 0 LIFR 3977 broad.mit.edu 37 5 38510706 38510706 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:38510706T>C uc010ive.1 - 7 1183 c.851A>G c.(850-852)CAT>CGT p.H284R LIFR_uc003jli.2_Missense_Mutation_p.H284R NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 284 Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) GCAGTTTGTATGGCCAATCAG 0.368 NA T PLAG1 salivary adenoma 6 117 0 0 0 0 ZNF366 167465 broad.mit.edu 37 5 71756160 71756160 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:71756160C>T uc003kce.1 - 2 1350 c.1164G>A c.(1162-1164)CGG>CGA p.R388R NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGATGGGGCCCCGGTGCGTGG 0.612 NA 8 57 0 0 0 0 PAM 5066 broad.mit.edu 37 5 102363940 102363940 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:102363940G>C uc003knw.2 + 24 3114 c.2741G>C c.(2740-2742)AGA>ACA p.R914T PAM_uc003kns.2_Missense_Mutation_p.R807T|PAM_uc003knt.2_Missense_Mutation_p.R915T|PAM_uc003knu.2_Missense_Mutation_p.R846T|PAM_uc003knv.2_Intron|PAM_uc011cuz.1_Missense_Mutation_p.R816T|PAM_uc003knz.2_Intron NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 914 Cytoplasmic (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) GGAAGATTTAGAGGTATGCCT 0.373 NA 22 146 0 0 0 0 MAN2A1 4124 broad.mit.edu 37 5 109153015 109153015 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:109153015C>T uc003kou.1 + 13 2948 c.1985C>T c.(1984-1986)TCG>TTG p.S662L NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 662 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GACCGAATCTCGTTGGTCTCA 0.403 NA 15 183 0 0 0 0 SHROOM1 134549 broad.mit.edu 37 5 132158993 132158993 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:132158993G>A uc003kxx.2 - 9 2980 c.2175C>T c.(2173-2175)CGC>CGT p.R725R SHROOM1_uc003kxy.1_Silent_p.R725R NM_133456 NP_597713 Q2M3G4 SHRM1_HUMAN shroom family member 1 725 ASD2. actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding pancreas(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGCGGCGCACGCGCGCCAGGC 0.692 NA 6 70 0 0 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710445 140710445 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:140710445G>A uc003lji.1 + 1 194 c.194G>A c.(193-195)CGC>CAC p.R65H PCDHGA1_uc011dan.1_Missense_Mutation_p.R65H NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 65 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGAGTCCGCATCGTCTCC 0.592 NA 5 223 0 0 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140779873 140779873 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:140779873C>T uc003lkf.1 + 1 2179 c.2179C>T c.(2179-2181)CTC>TTC p.L727F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.L727F|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 727 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAACCTGGTCTCTGTGTCAA 0.567 NA 35 374 0 0 0 0 UBLCP1 134510 broad.mit.edu 37 5 158710239 158710239 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:158710239C>T uc003lxq.2 + 10 1147 c.821C>T c.(820-822)GCG>GTG p.A274V NM_145049 NP_659486 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 274 FCP1 homology. nucleus phosphoprotein phosphatase activity ovary(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTATGAAAGCGCACCTAAAT 0.299 NA 16 120 0 0 0 0 GABRA6 2559 broad.mit.edu 37 5 161116008 161116008 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:161116008G>A uc003lyu.2 + 4 617 c.279G>A c.(277-279)AAG>AAA p.K93K GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 93 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGAGGTTGAAGTTTGGGGGGC 0.408 NA TCGA Ovarian(5;0.080) 15 190 0 0 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310010 178310010 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:178310010C>T uc003mjl.2 + 5 783 c.557C>T c.(556-558)TCA>TTA p.S186L ZNF354B_uc003mjm.2_Missense_Mutation_p.S186L NM_058230 NP_478137 Q96LW1 Z354B_HUMAN zinc finger protein 354B 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAAACTCCATCAAAATGTGAA 0.308 NA 11 87 0 0 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271590 26271590 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:26271590G>A uc003nhi.2 - 1 23 c.23C>T c.(22-24)GCA>GTA p.A8V uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank NM_003534 NP_003525 P68431 H31_HUMAN H3 histone family, member H 8 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 GGACTTGCGTGCAGTCTGCTT 0.567 NA 5 66 0 0 0 0 KIFC1 3833 broad.mit.edu 37 6 33371721 33371721 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:33371721C>T uc003oef.3 + 6 1021 c.571C>T c.(571-573)CAT>TAT p.H191Y KIFC1_uc011drf.1_Missense_Mutation_p.H183Y NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 191 Potential. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 ACTGGAGGGGCATTTAGCCAA 0.597 NA 43 170 0 0 0 0 SLC25A27 9481 broad.mit.edu 37 6 46644143 46644143 + Nonsense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:46644143G>A uc003oyh.2 + 9 1175 c.924G>A c.(922-924)TGG>TGA p.W308* SLC25A27_uc011dwb.1_Intron|SLC25A27_uc003oyg.2_Intron|SLC25A27_uc011dwc.1_Nonsense_Mutation_p.W222*|SLC25A27_uc003oyi.2_Nonsense_Mutation_p.W238* NM_004277 NP_004268 O95847 UCP4_HUMAN solute carrier family 25, member 27 308 Helical; Name=6; (Potential).|Solcar 3. generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane 0 Lung(136;0.192) TGGTGTTCTGGCTTACTTATG 0.328 NA 14 96 0 0 0 0 BAG2 9532 broad.mit.edu 37 6 57048922 57048922 + Silent SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:57048922A>G uc003pdr.2 + 3 962 c.570A>G c.(568-570)CTA>CTG p.L190L BAG2_uc011dxo.1_Silent_p.L157L NM_004282 NP_004273 O95816 BAG2_HUMAN BCL2-associated athanogene 2 190 apoptosis|protein folding protein binding 0 Lung NSC(77;0.126) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CCATCAAGCTATTAGAGCATT 0.363 NA 12 61 0 0 0 0 MOXD1 26002 broad.mit.edu 37 6 132649650 132649650 + Silent SNP G G A rs147693794 byFrequency TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:132649650G>A uc003qdf.2 - 5 846 c.747C>T c.(745-747)AGC>AGT p.S249S MOXD1_uc003qde.2_Silent_p.S181S NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 249 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) ACTCCAGAACGCTGTCGTTAA 0.517 NA 10 101 0 0 0 0 ECT2L 345930 broad.mit.edu 37 6 139134477 139134477 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:139134477G>T uc003qif.1 + 1 169 c.66G>T c.(64-66)CAG>CAT p.Q22H ECT2L_uc011edq.1_5'Flank NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 22 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 TAAATAGACAGGTAAGTTACA 0.378 NA 9 93 4.69e-08 5.72e-08 1 0 PLEKHG1 57480 broad.mit.edu 37 6 151089868 151089868 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:151089868T>G uc003qny.1 + 4 818 c.506T>G c.(505-507)TTC>TGC p.F169C PLEKHG1_uc011eel.1_Missense_Mutation_p.F209C|PLEKHG1_uc011eem.1_Missense_Mutation_p.F228C|PLEKHG1_uc003qnz.2_Missense_Mutation_p.F169C NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 169 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ATCTACCACTTCAATAGGTAA 0.393 NA 7 46 0 0 0 0 PLG 5340 broad.mit.edu 37 6 161139390 161139390 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:161139390C>T uc003qtm.3 + 8 915 c.852C>T c.(850-852)CGC>CGT p.R284R NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 284 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AAAACTATCGCGGGAATGTGG 0.493 NA 16 159 0 0 0 0 IKZF1 10320 broad.mit.edu 37 7 50468217 50468217 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:50468217C>T uc003tow.3 + 9 1620 c.1452C>T c.(1450-1452)CAC>CAT p.H484H IKZF1_uc003tox.3_Silent_p.H442H|IKZF1_uc003toy.3_Silent_p.H442H|IKZF1_uc011kck.1_Silent_p.H397H|IKZF1_uc003toz.3_Silent_p.H454H|IKZF1_uc010kyx.2_Silent_p.H224H|IKZF1_uc003tpa.3_Silent_p.H226H NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 484 C2H2-type 5. cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TGGGCTGCCACGGCTTCCGTG 0.587 NA D ALL 7 26 0 0 0 0 FIGNL1 63979 broad.mit.edu 37 7 50514478 50514478 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:50514478G>C uc003tpc.2 - 4 885 c.508C>G c.(508-510)CGA>GGA p.R170G FIGNL1_uc003tpb.2_Missense_Mutation_p.R59G|FIGNL1_uc003tpd.2_Missense_Mutation_p.R170G|FIGNL1_uc003tpe.2_Missense_Mutation_p.R170G|FIGNL1_uc010kyy.2_Missense_Mutation_p.R170G NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 170 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) GTCCGGTCTCGATCATGAGCT 0.458 NA 35 237 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91730273 91730273 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:91730273A>C uc003ulg.2 + 45 11225 c.11000A>C c.(10999-11001)AAA>ACA p.K3667T AKAP9_uc003ulf.2_Missense_Mutation_p.K3659T|AKAP9_uc003uli.2_Missense_Mutation_p.K3290T|AKAP9_uc003ulj.2_Missense_Mutation_p.K1437T|AKAP9_uc003ull.2_Missense_Mutation_p.K563T NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3671 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAATCTTTGAAAAGGGCAGAG 0.388 NA T BRAF papillary thyroid 18 98 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94038715 94038715 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:94038715G>A uc003ung.1 + 17 1345 c.874G>A c.(874-876)GGC>AGC p.G292S COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 292 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGGCCTCTCCGGCCCCGTTGG 0.498 NA HNSCC(75;0.22) 7 103 0 0 0 0 SMURF1 57154 broad.mit.edu 37 7 98655145 98655145 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:98655145A>C uc003upu.1 - 4 553 c.233T>G c.(232-234)ATT>AGT p.I78S SMURF1_uc003upv.1_Missense_Mutation_p.I78S|SMURF1_uc003upt.2_Missense_Mutation_p.I78S NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 78 C2. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) CCACACGCTAATGGTTATCGA 0.363 NA 8 57 0 0 0 0 TFEC 22797 broad.mit.edu 37 7 115624314 115624314 + Splice_Site SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:115624314A>G uc003vhj.1 - 2 364 c.180_splice c.e2+1 p.H60_splice TFEC_uc003vhk.1_Splice_Site_p.H60_splice|TFEC_uc003vhl.3_Splice_Site_p.H60_splice|TFEC_uc011kmw.1_Splice_Site_p.H150_splice NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) CATTAGACATACATGCCATTG 0.363 NA 18 229 0 0 0 0 TNPO3 23534 broad.mit.edu 37 7 128655071 128655071 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:128655071C>A uc003vol.1 - 4 888 c.514G>T c.(514-516)GAT>TAT p.D172Y TNPO3_uc003vom.1_Missense_Mutation_p.D106Y|TNPO3_uc010lly.1_Missense_Mutation_p.D172Y|TNPO3_uc010llz.1_Missense_Mutation_p.D172Y NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 172 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 AAGGCCAAATCTTCTATAATT 0.393 NA 12 118 7.93e-07 9.52e-07 1 0 SNTG1 54212 broad.mit.edu 37 8 51449368 51449368 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:51449368G>T uc010lxy.1 + 12 1051 c.680G>T c.(679-681)CGG>CTG p.R227L SNTG1_uc003xqs.1_Missense_Mutation_p.R227L|SNTG1_uc010lxz.1_Missense_Mutation_p.R227L|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 227 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GATTTGAGTCGGTGAGTCCGT 0.438 NA 44 279 3.86e-14 4.92e-14 1 0 EYA1 2138 broad.mit.edu 37 8 72184055 72184055 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:72184055T>G uc003xys.3 - 9 1191 c.904A>C c.(904-906)AAA>CAA p.K302Q EYA1_uc003xyr.3_Missense_Mutation_p.K297Q|EYA1_uc003xyt.3_Missense_Mutation_p.K269Q|EYA1_uc010lzf.2_Missense_Mutation_p.K229Q|EYA1_uc003xyu.2_Missense_Mutation_p.K302Q|EYA1_uc011lfe.1_Missense_Mutation_p.K296Q|EYA1_uc003xyv.2_Missense_Mutation_p.K180Q NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 302 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CCACGTGATTTCCCATCTGAA 0.468 NA 33 419 0 0 0 0 MTERFD1 51001 broad.mit.edu 37 8 97251890 97251890 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:97251890C>G uc003yhs.1 - 8 1161 c.1083G>C c.(1081-1083)AAG>AAC p.K361N MTERFD1_uc003yhr.1_Missense_Mutation_p.K240N|MTERFD1_uc010mbd.1_3'UTR NM_015942 NP_057026 Q96E29 MTER1_HUMAN MTERF domain containing 1 precursor 361 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding ovary(1) 1 Breast(36;5.16e-05) TTTCTTTGACCTTAAACAGCC 0.323 NA 15 91 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110445377 110445377 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:110445377G>T uc003yne.2 + 28 3376 c.3272G>T c.(3271-3273)GGA>GTA p.G1091V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1091 Extracellular (Potential).|IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGGGTTCTGGATTTTCTCCT 0.333 NA HNSCC(38;0.096) 35 497 9.63e-15 1.24e-14 1 0 EPPK1 83481 broad.mit.edu 37 8 144944117 144944117 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:144944117C>A uc003zaa.1 - 1 3318 c.3305G>T c.(3304-3306)TGC>TTC p.C1102F NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1102 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATCCCTGGGGCACTCCTCCAG 0.657 NA 12 19 2.27e-07 2.75e-07 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb 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 15 0 0 0 0 PTCH1 5727 broad.mit.edu 37 9 98238315 98238315 + Splice_Site SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr9:98238315C>A uc004avk.3 - 12 1916 c.1728_splice c.e12+1 p.Q576_splice PTCH1_uc010mro.2_Splice_Site_p.Q425_splice|PTCH1_uc010mrp.2_Splice_Site_p.Q425_splice|PTCH1_uc010mrq.2_Splice_Site_p.Q425_splice|PTCH1_uc004avl.3_Splice_Site_p.Q425_splice|PTCH1_uc010mrr.2_Splice_Site_p.Q510_splice|PTCH1_uc004avm.3_Splice_Site_p.Q575_splice|PTCH1_uc010mrs.1_Splice_Site_p.Q244_splice NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CAGAAGCTCACCTGGAGGGAG 0.567 NA Basal_Cell_Nevus_syndrome 24 41 2.42e-17 3.13e-17 1 0 ASTN2 23245 broad.mit.edu 37 9 119976896 119976896 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr9:119976896G>T uc004bjs.1 - 3 857 c.756C>A c.(754-756)ATC>ATA p.I252I ASTN2_uc004bjr.1_Silent_p.I252I|ASTN2_uc004bjt.1_Silent_p.I252I NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 252 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GGATGTAGTGGATCTCATGAG 0.627 NA 34 44 1.07e-15 1.37e-15 1 0 OR1Q1 158131 broad.mit.edu 37 9 125377720 125377720 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr9:125377720G>T uc011lyy.1 + 1 704 c.704G>T c.(703-705)TGG>TTG p.W235L NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AAGGGCAGGTGGAAAACCTTT 0.557 NA 48 165 1.81e-26 2.37e-26 1 0 P2RY10 27334 broad.mit.edu 37 X 78216634 78216634 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chrX:78216634G>T uc004ede.2 + 4 986 c.617G>T c.(616-618)GGA>GTA p.G206V P2RY10_uc004edf.2_Missense_Mutation_p.G206V NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 206 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 GAGCTTGCAGGATTTGTGATC 0.458 NA 10 56 3.07e-06 3.63e-06 1 0 SLC10A3 8273 broad.mit.edu 37 X 153716765 153716765 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chrX:153716765G>A uc004flq.2 - 3 779 c.515C>T c.(514-516)CCT>CTT p.P172L UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Missense_Mutation_p.P143L|SLC10A3_uc004flp.2_Missense_Mutation_p.P172L NM_001142392 NP_001135864 P09131 P3_HUMAN solute carrier family 10, member 3 isoform 1 172 organic anion transport integral to membrane bile acid:sodium symporter activity ovary(1)|skin(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTCTTCAGCAGGTGAGACCTT 0.602 NA 53 67 0 0 0 0 USP5 8078 broad.mit.edu 37 12 6972476 6972481 + In_Frame_Del DEL GCCTTG GCCTTG - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:6972476_6972481delGCCTTG uc001qri.3 + 15 1948_1953 c.1889_1894delGCCTTG c.(1888-1896)AGCCTTGGT>AGT p.LG631del USP5_uc001qrh.3_Intron NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 631_632 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 CCCAAAGGTAGCCTTGGTTTCTATGG 0.587 NA 22 186 --- --- --- --- NA NA NA NA CCDC64 92558 broad.mit.edu 37 12 120527826 120527826 + Frame_Shift_Del DEL A A - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:120527826delA uc001txl.1 + 8 1536 c.1511delA c.(1510-1512)GATfs p.D504fs CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Frame_Shift_Del_p.D175fs|CCDC64_uc010szf.1_Frame_Shift_Del_p.D201fs NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 504 Potential. Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding ovary(2) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGTTGCTGGATGCCATTCAG 0.532 NA 34 126 --- --- --- --- NA NA NA NA VPS13C 54832 broad.mit.edu 37 15 62254687 62254701 + In_Frame_Del DEL ATACAAATCCAAATT ATACAAATCCAAATT - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:62254687_62254701delATACAAATCCAAATT uc002agz.2 - 34 3546_3560 c.3472_3486delAATTTGGATTTGTAT c.(3472-3486)AATTTGGATTTGTATdel p.NLDLY1158del VPS13C_uc002aha.2_In_Frame_Del_p.NLDLY1115del|VPS13C_uc002ahb.1_In_Frame_Del_p.NLDLY1158del|VPS13C_uc002ahc.1_In_Frame_Del_p.NLDLY1115del NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1158_1162 protein localization ovary(2) 2 TAGCATCTGGATACAAATCCAAATTAAAACGGAAA 0.367 NA 22 322 --- --- --- --- NA NA NA NA ALPK2 115701 broad.mit.edu 37 18 56278955 56278955 + Frame_Shift_Del DEL C C - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr18:56278955delC uc002lhj.3 - 2 289 c.75delG c.(73-75)GAGfs p.E25fs NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 25 Ig-like 1. ATP binding|protein serine/threonine kinase activity p.E25K(1) ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CGTCTGACTTCTCAGGAACCT 0.483 NA 19 207 --- --- --- --- NA NA NA NA PEG3 5178 broad.mit.edu 37 19 57325826 57325835 + Frame_Shift_Del DEL AGCTCCTTTG AGCTCCTTTG - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:57325826_57325835delAGCTCCTTTG uc002qnu.2 - 7 4326_4335 c.3975_3984delCAAAGGAGCT c.(3973-3984)CTCAAAGGAGCTfs p.L1325fs ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.L1296fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.L1325fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.L1201fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.L1199fs|PEG3_uc010etr.2_Frame_Shift_Del_p.L1325fs NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1325_1328 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGAATGGTATAGCTCCTTTGAGGGGCTCAG 0.429 NA 8 142 --- --- --- --- NA NA NA NA ZNF337 26152 broad.mit.edu 37 20 25666234 25666234 + Frame_Shift_Del DEL T T - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:25666234delT uc002wva.2 - 3 741 c.219delA c.(217-219)GAAfs p.E73fs ZNF337_uc010ztg.1_Intron|ZNF337_uc002wvb.2_Frame_Shift_Del_p.E73fs|ZNF337_uc002wvc.2_Frame_Shift_Del_p.E73fs NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCTTCTCTCTTCTCCCCAGG 0.572 NA 90 507 --- --- --- --- NA NA NA NA RNF123 63891 broad.mit.edu 37 3 49758486 49758487 + Frame_Shift_Ins INS - - A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:49758486_49758487insA uc003cxh.2 + 38 3858_3859 c.3772_3773insA c.(3772-3774)TATfs p.Y1258fs RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 1258 RING-type. cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CCCCATCTGCTATGCCCACCCC 0.604 NA 24 124 --- --- --- --- NA NA NA NA HIST1H2BF 8343 broad.mit.edu 37 6 26199981 26199983 + In_Frame_Del DEL CTT CTT - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:26199981_26199983delCTT uc003ngx.2 + 1 195_197 c.195_197delCTT c.(193-198)TCCTTC>TCC p.F66del HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 66 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) TCATGAACTCCTTCGTCAACGAT 0.581 NA 40 362 --- --- --- --- NA NA NA NA SPDYE6 729597 broad.mit.edu 37 7 101989051 101989052 + Frame_Shift_Ins INS - - T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:101989051_101989052insT uc011kkp.1 - 6 1242_1243 c.821_822insA c.(820-822)TATfs p.Y274fs SPDYE6_uc003uzb.2_Frame_Shift_Ins_p.Y130fs NM_001146210 NP_001139682 P0CI01 SPDE6_HUMAN speedy homolog E6 274 0 GGTTCTTCCTATACAGGAAGTG 0.545 NA 43 685 --- --- --- --- NA NA NA NA