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 CSMD2 114784 broad.mit.edu 37 1 34008458 34008458 + Nonsense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:34008458G>A uc001bxn.1 - 57 8736 c.8707C>T c.(8707-8709)CGA>TGA p.R2903* CSMD2_uc001bxm.1_Nonsense_Mutation_p.R3047* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2903 Sushi 21.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AACACAACTCGGGCATTACTT 0.512 NDUFS5 4725 broad.mit.edu 37 1 39500125 39500125 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:39500125C>G uc001ccx.2 + 3 349 c.278C>G c.(277-279)ACC>AGC p.T93S NDUFS5_uc001ccy.2_Missense_Mutation_p.T93S NM_004552 NP_004543 O43920 NDUS5_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 5, 93 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.93e-18) NADH(DB00157) GGAAAGTACACCCCTCCACCT 0.512 SYT6 148281 broad.mit.edu 37 1 114682479 114682479 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:114682479G>C uc001eev.2 - 2 265 c.15C>G c.(13-15)AAC>AAG p.N5K NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 90 Cytoplasmic (Potential). acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGCCTCCTTGTTCCTCCAGG 0.572 SETDB1 9869 broad.mit.edu 37 1 150900360 150900361 + Missense_Mutation DNP GC GC AA TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:150900360_150900361GC>AA uc001evu.2 + 2 360_361 c.170_171GC>AA c.(169-171)CGC>CAA p.R57Q SETDB1_uc009wmf.2_Missense_Mutation_p.R57Q|SETDB1_uc001evv.2_Missense_Mutation_p.R57Q|SETDB1_uc001evw.3_Missense_Mutation_p.R57Q|SETDB1_uc009wmg.1_Missense_Mutation_p.R57Q NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 57 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GTACAGCAACGCAAGAAGCAGC 0.48 TCHH 7062 broad.mit.edu 37 1 152080373 152080373 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:152080373G>A uc001ezp.2 - 2 5320 c.5320C>T c.(5320-5322)CGC>TGC p.R1774C TCHH_uc009wne.1_Missense_Mutation_p.R1774C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1774 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTCCTCGCGGAATTTTCTG 0.597 LMNA 4000 broad.mit.edu 37 1 156106743 156106743 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:156106743G>A uc001fni.2 + 8 1661 c.1412G>A c.(1411-1413)CGC>CAC p.R471H LMNA_uc001fnf.1_Missense_Mutation_p.R471H|LMNA_uc001fng.2_Missense_Mutation_p.R471H|LMNA_uc001fnh.2_Missense_Mutation_p.R471H|LMNA_uc009wro.1_Missense_Mutation_p.R471H|LMNA_uc010pgz.1_Missense_Mutation_p.R359H|LMNA_uc001fnj.2_Missense_Mutation_p.R390H|LMNA_uc001fnk.2_Missense_Mutation_p.R372H|LMNA_uc009wrp.2_3'UTR|LMNA_uc010pha.1_Missense_Mutation_p.R127H NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 471 Tail. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) CAGATCAAGCGCCAGAATGGA 0.582 Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome OR10T2 128360 broad.mit.edu 37 1 158368662 158368662 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:158368662C>A uc010pih.1 - 1 595 c.595G>T c.(595-597)GCT>TCT p.A199S NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CTAAATAAAGCCAGCTCTTTC 0.448 ADCY10 55811 broad.mit.edu 37 1 167847720 167847720 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:167847720C>A uc001ger.2 - 12 1668 c.1370G>T c.(1369-1371)GGA>GTA p.G457V ADCY10_uc009wvk.2_Missense_Mutation_p.G365V|ADCY10_uc010plj.1_Missense_Mutation_p.G304V|ADCY10_uc009wvl.2_Missense_Mutation_p.G456V NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 457 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 ATACAATGGTCCAGAATCTGC 0.403 C1orf156 92342 broad.mit.edu 37 1 169762816 169762816 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:169762816G>A uc001ggn.2 - 2 299 c.21C>T c.(19-21)TTC>TTT p.F7F C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 7 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCTATAGTGAAATTAAACT 0.358 ASTN1 460 broad.mit.edu 37 1 176926896 176926896 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:176926896C>T uc001glc.2 - 11 2017 c.1805G>A c.(1804-1806)CGC>CAC p.R602H ASTN1_uc001glb.1_Missense_Mutation_p.R602H|ASTN1_uc001gld.1_Missense_Mutation_p.R602H|ASTN1_uc009wwx.1_Missense_Mutation_p.R602H NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 610 EGF-like 2. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GCTGCAGTCGCGCACCGGCCC 0.552 PGBD5 79605 broad.mit.edu 37 1 230472930 230472930 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:230472930C>T uc010pwb.1 - 4 792 c.792G>A c.(790-792)GCG>GCA p.A264A PGBD5_uc001htv.2_Silent_p.A363A NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 264 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) TCTTGCCTGCCGCGTTCCGGC 0.577 RYR2 6262 broad.mit.edu 37 1 237586436 237586436 + Missense_Mutation SNP G G A rs35041432 TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:237586436G>A uc001hyl.1 + 12 1013 c.893G>A c.(892-894)CGC>CAC p.R298H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 298 Cytoplasmic (By similarity).|MIR 4. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCCGACTACGCCATGTCACA 0.428 RYR2 6262 broad.mit.edu 37 1 237947447 237947447 + Silent SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:237947447C>A uc001hyl.1 + 90 12555 c.12435C>A c.(12433-12435)ATC>ATA p.I4145I RYR2_uc010pya.1_Silent_p.I560I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4145 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCAAACGCATCGAGAGGGTCT 0.498 OR2M3 127062 broad.mit.edu 37 1 248367138 248367138 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr1:248367138T>G uc010pzg.1 + 1 769 c.769T>G c.(769-771)TTC>GTC p.F257V NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGCAGCTTTGTTCATGTACAT 0.493 CALML3 810 broad.mit.edu 37 10 5567124 5567124 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr10:5567124G>A uc001iie.1 + 1 201 c.76G>A c.(76-78)GGC>AGC p.G26S uc001iid.1_5'Flank NM_005185 NP_005176 P27482 CALL3_HUMAN calmodulin-like 3 26 1.|EF-hand 1. calcium ion binding 0 GGATGGGGACGGCTGCATCAC 0.652 GDF2 2658 broad.mit.edu 37 10 48413661 48413661 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr10:48413661C>T uc001jfa.1 - 2 1370 c.1207G>A c.(1207-1209)GTC>ATC p.V403I NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 403 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 TTGTAGAGGACGGAGATGGGG 0.597 MAPK8 5599 broad.mit.edu 37 10 49635141 49635141 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr10:49635141G>A uc009xnz.2 + 10 1239 c.1015G>A c.(1015-1017)GAC>AAC p.D339N MAPK8_uc001jgl.2_Missense_Mutation_p.D339N|MAPK8_uc001jgm.2_Missense_Mutation_p.D339N|MAPK8_uc001jgo.2_Missense_Mutation_p.D339N|MAPK8_uc009xoa.2_Missense_Mutation_p.D263N|MAPK8_uc001jgn.2_Missense_Mutation_p.D339N|MAPK8_uc010qgk.1_Missense_Mutation_p.D339N|MAPK8_uc001jgp.2_Missense_Mutation_p.D339N|MAPK8_uc001jgq.2_Missense_Mutation_p.D339N NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 339 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) AAAGATCCCTGACAAGCAGTT 0.388 C10orf54 64115 broad.mit.edu 37 10 73521515 73521515 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr10:73521515G>A uc001jsd.2 - 2 492 c.351C>T c.(349-351)CAC>CAT p.H117H CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Translation_Start_Site|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Silent_p.H117H NM_022153 NP_071436 Q9H7M9 GI24_HUMAN platelet receptor Gi24 precursor 117 Ig-like.|Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1)|central_nervous_system(1) 3 ACTCCAGCCCGTGGCGCTGAG 0.652 ZCCHC24 219654 broad.mit.edu 37 10 81146112 81146112 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr10:81146112G>A uc001kak.2 - 4 902 c.715C>T c.(715-717)CGC>TGC p.R239C ZCCHC24_uc010qlr.1_Missense_Mutation_p.S179L|ZCCHC24_uc009xrw.2_RNA NM_153367 NP_699198 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 239 nucleic acid binding|zinc ion binding breast(1) 1 CACTGCACGCGACGGCAGTAG 0.701 NRG3 10718 broad.mit.edu 37 10 83635660 83635660 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr10:83635660G>A uc001kco.2 + 1 591 c.564G>A c.(562-564)GCG>GCA p.A188A NRG3_uc010qlz.1_Silent_p.A188A|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 188 Ser/Thr-rich.|Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GGAACACTGCGGCCCCTGCGA 0.716 FAM22D 728130 broad.mit.edu 37 10 89118032 89118032 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr10:89118032G>A uc001kes.2 + 1 556 c.10G>A c.(10-12)GAA>AAA p.E4K FAM22D_uc009xte.1_Missense_Mutation_p.E4K NM_001009610 NP_001009610 Q5VT03 FA22D_HUMAN hypothetical protein LOC728130 4 0 TATGTTCCAGGAACCTGTTTA 0.532 SORCS1 114815 broad.mit.edu 37 10 108923823 108923823 + Silent SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr10:108923823C>A uc001kym.2 - 1 470 c.462G>T c.(460-462)CGG>CGT p.R154R SORCS1_uc001kyl.2_Silent_p.R154R|SORCS1_uc009xxs.2_Silent_p.R154R|SORCS1_uc001kyn.1_Silent_p.R154R|SORCS1_uc001kyo.2_Silent_p.R154R NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 154 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GCTCCTCCATCCGGAAGCGGG 0.652 BBOX1 8424 broad.mit.edu 37 11 27148884 27148884 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:27148884C>G uc001mre.1 + 9 1416 c.1048C>G c.(1048-1050)CGT>GGT p.R350G BBOX1_uc009yih.1_Missense_Mutation_p.R350G|BBOX1_uc001mrg.1_Missense_Mutation_p.R350G NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 350 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) TCATGGCCGACGTAGCTATGA 0.413 OR4C13 283092 broad.mit.edu 37 11 49974634 49974634 + Silent SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:49974634G>T uc010rhz.1 + 1 660 c.660G>T c.(658-660)CTG>CTT p.L220L NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TGGTCATACTGTACTCCTTAA 0.483 SSRP1 6749 broad.mit.edu 37 11 57099148 57099148 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:57099148A>G uc001njt.2 - 9 1484 c.1217T>C c.(1216-1218)ATT>ACT p.I406T NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 406 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 TCACCTCTCAATGCTGCTGAA 0.532 OR5B12 390191 broad.mit.edu 37 11 58206946 58206946 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:58206946G>A uc010rkh.1 - 1 679 c.679C>T c.(679-681)CGC>TGC p.R227C NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCAGGTGAGCGCATCTTCATG 0.403 C11orf2 738 broad.mit.edu 37 11 64876186 64876186 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:64876186C>T uc001ocr.1 + 5 1283 c.1243C>T c.(1243-1245)CGG>TGG p.R415W C11orf2_uc001ocs.1_Missense_Mutation_p.R291W NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 415 lipid transport|protein transport Golgi apparatus|integral to membrane 0 GCAGGGTCTCCGGGCGGCCTT 0.741 TYR 7299 broad.mit.edu 37 11 88961040 88961040 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:88961040G>A uc001pcs.2 + 3 1168 c.1086G>A c.(1084-1086)ATG>ATA p.M362I NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 362 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) AAAGCAGCATGCACAATGCCT 0.393 Oculocutaneous_Albinism MMP7 4316 broad.mit.edu 37 11 102395690 102395690 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:102395690C>T uc001phb.2 - 4 637 c.590G>A c.(589-591)CGC>CAC p.R197H MMP7_uc009yxd.2_Missense_Mutation_p.R197H NM_002423 NP_002414 P09237 MMP7_HUMAN matrix metalloproteinase 7 preproprotein 197 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(1) 1 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) ATCCGTCCAGCGTTCATCCTC 0.478 BCO2 83875 broad.mit.edu 37 11 112070509 112070509 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:112070509C>T uc001pnf.2 + 6 941 c.824C>T c.(823-825)GCT>GTT p.A275V BCO2_uc001pne.1_Missense_Mutation_p.A102V|BCO2_uc001png.2_Missense_Mutation_p.A202V|BCO2_uc001pnh.2_Missense_Mutation_p.A241V|BCO2_uc010rwt.1_Missense_Mutation_p.A170V|BCO2_uc009yyn.2_Missense_Mutation_p.A241V|BCO2_uc001pni.2_Missense_Mutation_p.A241V NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 275 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TGTTCTATTGCTTCTACAGAG 0.443 PPFIBP1 8496 broad.mit.edu 37 12 27841317 27841317 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr12:27841317G>A uc001ric.1 + 25 2852 c.2475G>A c.(2473-2475)GCG>GCA p.A825A PPFIBP1_uc010sjr.1_Silent_p.A656A|PPFIBP1_uc001rib.1_Silent_p.A819A|PPFIBP1_uc001ria.2_Silent_p.A794A|PPFIBP1_uc001rid.1_Silent_p.A672A|PPFIBP1_uc001rif.1_Silent_p.A332A NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 825 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) CAGAATATGCGCCCAATCTCA 0.473 IGFBP6 3489 broad.mit.edu 37 12 53495871 53495871 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr12:53495871G>A uc001sbu.1 + 4 709 c.643G>A c.(643-645)GTG>ATG p.V215M SOAT2_uc001sbv.2_5'Flank|SOAT2_uc009zms.2_5'Flank NM_002178 NP_002169 P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 215 Thyroglobulin type-1. negative regulation of cell proliferation|regulation of cell growth|signal transduction ovary(1) 1 CTGCTGGTGTGTGGATCGGAT 0.637 CAPS2 84698 broad.mit.edu 37 12 75693618 75693618 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr12:75693618G>A uc001sxk.3 - 10 1107 c.910C>T c.(910-912)CGT>TGT p.R304C CAPS2_uc001sxm.3_Missense_Mutation_p.R72C|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Nonsense_Mutation_p.R72*|CAPS2_uc001sxj.3_Nonsense_Mutation_p.R247*|CAPS2_uc001sxl.3_Missense_Mutation_p.R285C NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 304 calcium ion binding ovary(2) 2 CACAATTACCGTGATACGATC 0.269 NAV3 89795 broad.mit.edu 37 12 78401201 78401201 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr12:78401201C>T uc001syp.2 + 8 2056 c.1883C>T c.(1882-1884)GCG>GTG p.A628V NAV3_uc001syo.2_Missense_Mutation_p.A628V NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 628 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CCGAATACCGCGACAGTGGCA 0.488 HNSCC(70;0.22) NAV3 89795 broad.mit.edu 37 12 78513089 78513089 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr12:78513089C>A uc001syp.2 + 15 3286 c.3113C>A c.(3112-3114)CCT>CAT p.P1038H NAV3_uc001syo.2_Missense_Mutation_p.P1038H|NAV3_uc010sub.1_Missense_Mutation_p.P538H|NAV3_uc009zsf.2_Missense_Mutation_p.P46H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1038 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAAAGATCTCCTTCAGATGCA 0.433 HNSCC(70;0.22) C12orf12 196477 broad.mit.edu 37 12 91347392 91347392 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr12:91347392C>A uc001tbj.2 - 1 1562 c.1128G>T c.(1126-1128)GAG>GAT p.E376D NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 376 Glu-rich. central_nervous_system(1)|pancreas(1) 2 TTATAAAGTTCTCTCTCTTTT 0.418 SGCG 6445 broad.mit.edu 37 13 23777913 23777913 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr13:23777913G>T uc001uom.2 + 2 235 c.80G>T c.(79-81)GGC>GTC p.G27V SGCG_uc009zzv.2_Missense_Mutation_p.G27V|SGCG_uc009zzw.2_Missense_Mutation_p.G27V NM_000231 NP_000222 Q13326 SGCG_HUMAN gamma sarcoglycan 27 Cytoplasmic (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) TACAAAATTGGCATTTATGGC 0.438 EDNRB 1910 broad.mit.edu 37 13 78477310 78477310 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr13:78477310T>G uc001vko.2 - 3 1040 c.782A>C c.(781-783)CAG>CCG p.Q261P EDNRB_uc001vkq.1_Missense_Mutation_p.Q261P|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.Q261P|EDNRB_uc001vkp.1_Missense_Mutation_p.Q344P NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 261 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) AGCTGTCTTCTGAACGGGATG 0.403 DNAJC3 5611 broad.mit.edu 37 13 96416105 96416105 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr13:96416105G>A uc001vmq.2 + 9 1081 c.973G>A c.(973-975)GCT>ACT p.A325T DNAJC3_uc001vmr.2_Missense_Mutation_p.A274T NM_006260 NP_006251 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 325 TPR 8. protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding 0 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) GCCTGTTGAAGCTATTAGGGT 0.398 NUDT14 256281 broad.mit.edu 37 14 105643099 105643099 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr14:105643099G>A uc010tyn.1 - 4 314 c.200C>T c.(199-201)GCG>GTG p.A67V NUDT14_uc001yqi.2_RNA NM_177533 NP_803877 O95848 NUD14_HUMAN nudix-type motif 14 67 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity skin(1) 1 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CACCTCACCCGCATACACAGC 0.682 HNSCC(42;0.11) THBS1 7057 broad.mit.edu 37 15 39879632 39879632 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr15:39879632G>A uc001zkh.2 + 8 1384 c.1205G>A c.(1204-1206)CGC>CAC p.R402H THBS1_uc010bbi.2_5'Flank NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 402 TSP type-1 1. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ATTCAGCAGCGCGGCCGCTCC 0.582 ACAN 176 broad.mit.edu 37 15 89401508 89401508 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr15:89401508C>T uc010upo.1 + 12 6066 c.5692C>T c.(5692-5694)CCA>TCA p.P1898S ACAN_uc010upp.1_Missense_Mutation_p.P1898S|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1898 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAGTGGCCTACCAAGTGGCAT 0.517 COQ7 10229 broad.mit.edu 37 16 19083427 19083427 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr16:19083427A>G uc002dfr.2 + 2 311 c.251A>G c.(250-252)CAG>CGG p.Q84R COQ7_uc002dfs.2_Missense_Mutation_p.Q70R NM_016138 NP_057222 Q99807 COQ7_HUMAN COQ7 protein 84 1.|2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding skin(1) 1 CCAGTCATTCAGGTGGGTGCT 0.498 OREG0023656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) JPH3 57338 broad.mit.edu 37 16 87678214 87678214 + Missense_Mutation SNP C C T rs142136496 TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr16:87678214C>T uc002fkd.2 + 2 987 c.733C>T c.(733-735)CGC>TGC p.R245C JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 245 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) GAGCTCCTTTCGCAGCGAGGC 0.662 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 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) MYH10 4628 broad.mit.edu 37 17 8526399 8526399 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:8526399C>T uc002gll.2 - 2 262 c.166G>A c.(166-168)GAT>AAT p.D56N MYH10_uc002glm.2_Missense_Mutation_p.D56N|MYH10_uc010cnx.2_Missense_Mutation_p.D56N NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 56 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 ATAACTTCATCTCCCCGTTCT 0.448 MYH1 4619 broad.mit.edu 37 17 10399670 10399670 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:10399670A>G uc002gmo.2 - 34 4947 c.4853T>C c.(4852-4854)CTC>CCC p.L1618P uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1618 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CTTCTTCTTGAGCCTAATGGC 0.493 MYH3 4621 broad.mit.edu 37 17 10545981 10545981 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:10545981G>A uc002gmq.1 - 15 1718 c.1641C>T c.(1639-1641)ACC>ACT p.T547T NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 547 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TCTTGAAGGAGGTGTCTGTTG 0.507 DUSP14 11072 broad.mit.edu 37 17 35872423 35872423 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:35872423C>T uc002hnx.2 + 3 343 c.49C>T c.(49-51)CGG>TGG p.R17W DUSP14_uc002hny.2_Missense_Mutation_p.R4W|DUSP14_uc002hnz.2_Missense_Mutation_p.R4W NM_007026 NP_008957 O95147 DUS14_HUMAN dual specificity phosphatase 14 17 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Breast(25;0.00637)|Ovarian(249;0.15) CATGGCCCCTCGGATGATTTC 0.567 GPR179 440435 broad.mit.edu 37 17 36495312 36495312 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:36495312G>A uc002hpz.2 - 2 912 c.891C>T c.(889-891)CTC>CTT p.L297L NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 297 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGGTGCTGTTGAGATCACACA 0.582 PLCD3 113026 broad.mit.edu 37 17 43192475 43192475 + Silent SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:43192475G>T uc002iib.2 - 11 1812 c.1698C>A c.(1696-1698)CTC>CTA p.L566L NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN phospholipase C delta 3 566 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|lung(1) 3 Phosphatidylserine(DB00144) CCTCCCGAATGAGTTTCTTGG 0.652 NUP85 79902 broad.mit.edu 37 17 73227457 73227457 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:73227457T>C uc002jng.1 + 12 1377 c.1117T>C c.(1117-1119)TTT>CTT p.F373L NUP85_uc010dgd.1_Missense_Mutation_p.F328L|NUP85_uc010wrv.1_Missense_Mutation_p.F327L|NUP85_uc002jnh.1_5'UTR NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 373 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CAACTGGTGGTTTGTGGCCCA 0.572 UNC13D 201294 broad.mit.edu 37 17 73838569 73838569 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:73838569G>A uc002jpp.2 - 6 894 c.514C>T c.(514-516)CGC>TGC p.R172C UNC13D_uc010wsk.1_Missense_Mutation_p.R172C|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'UTR NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 172 C2 1. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) ACCTGCGTGCGGTGGGTCTCC 0.657 Familial_Hemophagocytic_Lymphohistiocytosis CYTH1 9267 broad.mit.edu 37 17 76677070 76677070 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:76677070C>T uc002jvw.2 - 11 1014 c.943G>A c.(943-945)GAG>AAG p.E315K CYTH1_uc010wtv.1_RNA NM_017456 NP_059430 Q15438 CYH1_HUMAN cytohesin 1 isoform 2 316 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TTGGAGTCCTCCACTTCCCGG 0.393 CSNK1D 1453 broad.mit.edu 37 17 80209374 80209374 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:80209374G>A uc002kej.2 - 6 1082 c.766C>T c.(766-768)CGT>TGT p.R256C SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.R256C|CSNK1D_uc002kei.2_Missense_Mutation_p.R256C|CSNK1D_uc010wvj.1_Missense_Mutation_p.R53C|CSNK1D_uc010dil.2_RNA|CSNK1D_uc002keh.2_Missense_Mutation_p.R121C|CSNK1D_uc010dim.1_Missense_Mutation_p.R53C NM_001893 NP_001884 P48730 KC1D_HUMAN casein kinase 1, delta isoform 1 256 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2) 2 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) CGCAAGGAACGGCAGAAATTC 0.498 ZNF750 79755 broad.mit.edu 37 17 80789023 80789023 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:80789023C>T uc002kga.2 - 2 1619 c.1308G>A c.(1306-1308)AAG>AAA p.K436K TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 436 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGGAGGCTGCCTTGTTGGAGA 0.632 LAMA3 3909 broad.mit.edu 37 18 21422634 21422634 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr18:21422634G>A uc002kuq.2 + 29 3609 c.3523G>A c.(3523-3525)GAA>AAA p.E1175K LAMA3_uc002kur.2_Missense_Mutation_p.E1175K NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1175 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTGATTGCCGAAGGCCAGAT 0.537 TCEB3B 51224 broad.mit.edu 37 18 44561290 44561290 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr18:44561290C>T uc002lcr.1 - 1 699 c.346G>A c.(346-348)GCG>ACG p.A116T KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 116 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GGGGCCGTCGCGTTTTCTGGG 0.662 ACTL9 284382 broad.mit.edu 37 19 8808509 8808509 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:8808509C>T uc002mkl.2 - 1 664 c.543G>A c.(541-543)TCG>TCA p.S181S NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 181 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 CAGACAGCACCGACTGCGATG 0.657 MUC16 94025 broad.mit.edu 37 19 9015690 9015690 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:9015690C>T uc002mkp.2 - 29 38337 c.38133G>A c.(38131-38133)AAG>AAA p.K12711K MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCTCCTCGTACTTCAGGTTGG 0.517 PRX 57716 broad.mit.edu 37 19 40900469 40900469 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:40900469G>T uc002onr.2 - 7 4059 c.3790C>A c.(3790-3792)CAG>AAG p.Q1264K PRX_uc002onq.2_Missense_Mutation_p.Q1125K|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1264 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTGGGGGCTGCTCCTCAGCA 0.711 ZNF284 342909 broad.mit.edu 37 19 44590963 44590963 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:44590963G>T uc002oyg.1 + 5 1548 c.1332G>T c.(1330-1332)TTG>TTT p.L444F ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 444 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) ATCTTGACTTGCACCAGAGGG 0.433 ZNF613 79898 broad.mit.edu 37 19 52448840 52448840 + Silent SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:52448840T>G uc002pxz.1 + 6 2127 c.1704T>G c.(1702-1704)TCT>TCG p.S568S ZNF613_uc002pya.1_Silent_p.S532S NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 568 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) ATAAAGACTCTGTTAACATGG 0.443 TTYH1 57348 broad.mit.edu 37 19 54930476 54930476 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:54930476G>A uc002qfq.2 + 2 393 c.301G>A c.(301-303)GGC>AGC p.G101S TTYH1_uc010yey.1_Missense_Mutation_p.G150S|TTYH1_uc002qfr.2_Missense_Mutation_p.G101S|TTYH1_uc002qft.2_Missense_Mutation_p.G101S|TTYH1_uc002qfu.1_5'UTR NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 101 Helical; Name=2; (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) CCTTCTCGCCGGCTGGTAATG 0.716 SBK2 646643 broad.mit.edu 37 19 56041244 56041244 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:56041244G>A uc010ygc.1 - 3 903 c.903C>T c.(901-903)GAC>GAT p.D301D NM_001101401 NP_001094871 P0C263 SBK2_HUMAN SH3-binding domain kinase family, member 2 301 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 GCAGAAGCGCGTCGGCCGCGG 0.746 ZNF446 55663 broad.mit.edu 37 19 58989053 58989053 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:58989053C>G uc002qsz.2 + 3 509 c.392C>G c.(391-393)ACA>AGA p.T131R ZNF446_uc002qta.2_Missense_Mutation_p.T131R|ZNF446_uc010eur.2_Missense_Mutation_p.T131R NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 131 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCCCAGAAGACAGAGGAACCA 0.607 NTSR2 23620 broad.mit.edu 37 2 11800223 11800223 + Missense_Mutation SNP G G A rs139725500 TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:11800223G>A uc002rbq.3 - 3 1009 c.935C>T c.(934-936)CCG>CTG p.P312L NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 312 Helical; Name=6; (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GGCATGGTACGGCAGCCAGCA 0.562 SNX17 9784 broad.mit.edu 37 2 27598553 27598553 + Nonsense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:27598553C>T uc002rkg.1 + 10 1177 c.955C>T c.(955-957)CGA>TGA p.R319* SNX17_uc010ylj.1_Nonsense_Mutation_p.R299*|SNX17_uc010ylk.1_Nonsense_Mutation_p.R105*|SNX17_uc010eza.1_Nonsense_Mutation_p.R105*|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Nonsense_Mutation_p.R105*|SNX17_uc010yll.1_Nonsense_Mutation_p.R105*|SNX17_uc010ylm.1_Nonsense_Mutation_p.R105*|SNX17_uc010yln.1_Nonsense_Mutation_p.R307*|SNX17_uc010ylo.1_Nonsense_Mutation_p.R237*|SNX17_uc010ylp.1_Nonsense_Mutation_p.R294*|SNX17_uc010ylq.1_Nonsense_Mutation_p.R105* NM_014748 NP_055563 Q15036 SNX17_HUMAN sorting nexin 17 319 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCCGCATGCGATGCTGGCG 0.672 LTBP1 4052 broad.mit.edu 37 2 33589410 33589410 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:33589410G>A uc002ros.2 + 30 4530 c.4530G>A c.(4528-4530)CCG>CCA p.P1510P LTBP1_uc002rot.2_Silent_p.P1184P|LTBP1_uc002rou.2_Silent_p.P1183P|LTBP1_uc002rov.2_Silent_p.P1130P|LTBP1_uc010ymz.1_Silent_p.P1141P|LTBP1_uc010yna.1_Silent_p.P1088P|LTBP1_uc010ynb.1_Silent_p.P407P NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1509 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GTATACGACCGGCTGAGTCAA 0.403 PEX13 5194 broad.mit.edu 37 2 61259050 61259050 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:61259050C>T uc002sau.3 + 2 672 c.589C>T c.(589-591)CGG>TGG p.R197W NM_002618 NP_002609 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 197 Targeting to peroxisomes.|Lumenal (Potential). cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) ACGGCTACAGCGGATGTTAGG 0.453 GYPC 2995 broad.mit.edu 37 2 127413868 127413868 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:127413868C>T uc002tnq.2 + 1 185 c.29C>T c.(28-30)ACG>ATG p.T10M GYPC_uc002tnr.2_Missense_Mutation_p.T10M|GYPC_uc010flv.2_RNA|GYPC_uc010flw.1_Missense_Mutation_p.T10M NM_002101 NP_002092 P04921 GLPC_HUMAN glycophorin C isoform 1 10 Extracellular. cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1) 1 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) CCCAACAGCACGGCGTGGCCT 0.637 LRP1B 53353 broad.mit.edu 37 2 141243057 141243057 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:141243057C>T uc002tvj.1 - 59 10252 c.9280G>A c.(9280-9282)GTC>ATC p.V3094I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3094 Extracellular (Potential).|LDL-receptor class B 28. 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) ATCCAATCGACAGCAAGTGCA 0.378 TSP Lung(27;0.18) GALNT13 114805 broad.mit.edu 37 2 155115621 155115621 + Nonsense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:155115621G>A uc002tyr.3 + 8 1512 c.945G>A c.(943-945)TGG>TGA p.W315* GALNT13_uc002tyt.3_Nonsense_Mutation_p.W315*|GALNT13_uc010foc.1_Nonsense_Mutation_p.W134*|GALNT13_uc010fod.2_Nonsense_Mutation_p.W68* NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 315 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TGGATATCTGGGGTGGAGAGA 0.383 SCN1A 6323 broad.mit.edu 37 2 166848014 166848014 + Missense_Mutation SNP C C T rs3749029 TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:166848014C>T uc010zcz.1 - 26 5756 c.5738G>A c.(5737-5739)CGT>CAT p.R1913H NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1924 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTGTAAGCACGCTGAATAAT 0.388 TTN 7273 broad.mit.edu 37 2 179473038 179473038 + Silent SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:179473038C>G uc010zfg.1 - 224 45092 c.44868G>C c.(44866-44868)CTG>CTC p.L14956L uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L8651L|TTN_uc010zfi.1_Silent_p.L8584L|TTN_uc010zfj.1_Silent_p.L8459L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15883 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) TCAAGGCATTCAGAAGGCTTT 0.428 TTN 7273 broad.mit.edu 37 2 179482698 179482698 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:179482698C>T uc010zfg.1 - 202 39900 c.39676G>A c.(39676-39678)GTC>ATC p.V13226I TTN_uc010zfh.1_Missense_Mutation_p.V6921I|TTN_uc010zfi.1_Missense_Mutation_p.V6854I|TTN_uc010zfj.1_Missense_Mutation_p.V6729I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14153 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) AATTCAATGACGTAGTTTGTG 0.453 TTN 7273 broad.mit.edu 37 2 179640548 179640548 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:179640548C>T uc010zfg.1 - 28 6267 c.6043G>A c.(6043-6045)GCT>ACT p.A2015T TTN_uc010zfh.1_Missense_Mutation_p.A1969T|TTN_uc010zfi.1_Missense_Mutation_p.A1969T|TTN_uc010zfj.1_Missense_Mutation_p.A1969T|TTN_uc002unb.2_Missense_Mutation_p.A2015T|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2015 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) AGCTCCACAGCGGTAATGGCT 0.453 ERBB4 2066 broad.mit.edu 37 2 212251665 212251665 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:212251665G>A uc002veg.1 - 27 3492 c.3394C>T c.(3394-3396)CCC>TCC p.P1132S ERBB4_uc002veh.1_Missense_Mutation_p.P1116S|ERBB4_uc010zji.1_Missense_Mutation_p.P1122S|ERBB4_uc010zjj.1_Missense_Mutation_p.P1106S NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1132 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AACACGGTGGGGTCAGCACTG 0.532 TSP Lung(8;0.080) SMARCAL1 50485 broad.mit.edu 37 2 217297484 217297484 + Missense_Mutation SNP A A G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:217297484A>G uc002vgc.3 + 8 1708 c.1378A>G c.(1378-1380)ATG>GTG p.M460V SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.M460V|SMARCAL1_uc010fvg.2_Missense_Mutation_p.M460V NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 460 Helicase ATP-binding.|ATP (By similarity). chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CGCTGACGACATGGGCCTGGG 0.602 Schimke_Immuno-Osseous_Dysplasia PTPRN 5798 broad.mit.edu 37 2 220162661 220162661 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:220162661G>A uc002vkz.2 - 13 1922 c.1833C>T c.(1831-1833)CGC>CGT p.R611R PTPRN_uc010zlc.1_Silent_p.R521R|PTPRN_uc002vla.2_Silent_p.R582R NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 611 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGGCTGCCAGGCGCTCCTTGT 0.642 ARMC9 80210 broad.mit.edu 37 2 232141438 232141438 + Missense_Mutation SNP C C T rs116712981 byFrequency TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:232141438C>T uc002vrq.3 + 15 1536 c.1424C>T c.(1423-1425)ACG>ATG p.T475M ARMC9_uc002vrp.3_Missense_Mutation_p.T475M|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 475 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TCTGACTACACGCTGGAGTAC 0.562 UGT1A10 54575 broad.mit.edu 37 2 234545590 234545590 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:234545590C>A uc002vur.2 + 1 468 c.422C>A c.(421-423)TCT>TAT p.S141Y UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S141Y NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 141 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) AAGGAGAGTTCTTTTGATGCA 0.373 KLHL30 377007 broad.mit.edu 37 2 239049766 239049766 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:239049766G>A uc002vxr.1 + 1 350 c.317G>A c.(316-318)CGC>CAC p.R106H NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN kelch-like 30 124 0 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GTCTGCGGCCGCTACCTGCAG 0.677 NEURL2 140825 broad.mit.edu 37 20 44519149 44519149 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr20:44519149C>T uc002xqg.1 - 1 753 c.482G>A c.(481-483)GGC>GAC p.G161D C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 161 NHR. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) CCGGCTGCGGCCCACCAGGCG 0.672 ZBTB46 140685 broad.mit.edu 37 20 62421650 62421650 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr20:62421650G>A uc002ygv.1 - 2 662 c.461C>T c.(460-462)ACG>ATG p.T154M ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GAGAGCTTCCGTGCTGCTGCT 0.632 OLIG2 10215 broad.mit.edu 37 21 34399314 34399314 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr21:34399314G>A uc002yqx.1 + 2 302 c.144G>A c.(142-144)CCG>CCA p.P48P NM_005806 NP_005797 Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 48 cytoplasm|nucleus|plasma membrane DNA binding central_nervous_system(2) 2 GTGACTGCCCGCCGGAGCTGA 0.682 T TRA@ T-ALL SMARCB1 6598 broad.mit.edu 37 22 24135750 24135750 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr22:24135750C>T uc002zyb.2 + 3 444 c.237C>T c.(235-237)CAC>CAT p.H79H SMARCB1_uc002zyg.2_Silent_p.H79H|SMARCB1_uc011ajb.1_Silent_p.H70H|SMARCB1_uc002zya.2_Silent_p.H79H|SMARCB1_uc002zyc.2_Silent_p.H70H|SMARCB1_uc002zyd.2_Silent_p.H70H|SMARCB1_uc002zye.1_Silent_p.H42H|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 79 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) TTACAGATCACGGATACACGA 0.537 D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis ELFN2 114794 broad.mit.edu 37 22 37770469 37770469 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr22:37770469C>T uc003asq.3 - 3 1892 c.1106G>A c.(1105-1107)CGC>CAC p.R369H NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 369 Fibronectin type-III.|Extracellular (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GTGGTTGAAGCGGCGGCTGTT 0.617 SCN5A 6331 broad.mit.edu 37 3 38651357 38651357 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr3:38651357C>T uc003cio.2 - 7 996 c.802G>A c.(802-804)GGC>AGC p.G268S SCN5A_uc003cin.2_Missense_Mutation_p.G268S|SCN5A_uc003cil.3_Missense_Mutation_p.G268S|SCN5A_uc010hhi.2_Missense_Mutation_p.G268S|SCN5A_uc010hhk.2_Missense_Mutation_p.G268S|SCN5A_uc011ayr.1_Missense_Mutation_p.G268S|SCN5A_uc010hhl.1_Missense_Mutation_p.G91S NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 268 Helical; Name=S5 of repeat I; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGCTGCAGGCCGATGAGGGCA 0.602 GRM2 2912 broad.mit.edu 37 3 51749144 51749144 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr3:51749144G>A uc010hlv.2 + 4 1594 c.1355G>A c.(1354-1356)CGC>CAC p.R452H GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 452 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GGTATTGGCCGCTACAACATC 0.577 SFMBT1 51460 broad.mit.edu 37 3 52946639 52946639 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr3:52946639C>T uc003dgf.2 - 17 2214 c.1645G>A c.(1645-1647)GCC>ACC p.A549T SFMBT1_uc010hmr.2_Missense_Mutation_p.A496T|SFMBT1_uc003dgg.2_Missense_Mutation_p.A549T|SFMBT1_uc003dgh.2_Missense_Mutation_p.A549T NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 549 regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GGTTTGTAGGCTGCATTGATA 0.478 SENP7 57337 broad.mit.edu 37 3 101062557 101062557 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr3:101062557T>G uc003dut.2 - 14 2190 c.2079A>C c.(2077-2079)GAA>GAC p.E693D SENP7_uc003duu.2_Missense_Mutation_p.E628D|SENP7_uc003duv.2_Missense_Mutation_p.E660D|SENP7_uc003duw.2_Missense_Mutation_p.E627D|SENP7_uc003dux.2_Missense_Mutation_p.E529D NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 693 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 GCTTCATTTCTTCAGCAACAG 0.353 SEC61A1 29927 broad.mit.edu 37 3 127785877 127785877 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr3:127785877G>A uc003ekb.2 + 9 1042 c.858G>A c.(856-858)ACG>ACA p.T286T RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Silent_p.T233T|SEC61A1_uc003ekd.2_Silent_p.T166T|SEC61A1_uc003ekg.2_5'UTR NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit 286 Cytoplasmic (Potential). protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 TCTTCTATACGTCCAACATCC 0.547 SEC61A1 29927 broad.mit.edu 37 3 127785925 127785925 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr3:127785925T>C uc003ekb.2 + 9 1090 c.906T>C c.(904-906)TAT>TAC p.Y302Y RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Silent_p.Y249Y|SEC61A1_uc003ekd.2_Silent_p.Y182Y|SEC61A1_uc003ekg.2_5'UTR NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit 302 Helical; (Potential). protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 CCAACCTTTATGTCATCTCCC 0.542 MRPS22 56945 broad.mit.edu 37 3 139067023 139067023 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr3:139067023G>A uc003etb.2 + 3 369 c.361G>A c.(361-363)GCA>ACA p.A121T MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.A120T|MRPS22_uc003ete.2_Missense_Mutation_p.A80T NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 121 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 GGCAGTTGAGGCAGCTAAAGT 0.358 ZNF595 152687 broad.mit.edu 37 4 60009 60009 + Nonsense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:60009C>A uc003fzv.1 + 3 345 c.189C>A c.(187-189)TGC>TGA p.C63* ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Nonsense_Mutation_p.Y63*|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 63 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AAGAGCCCTGCAATTTGAAGA 0.458 PDE6B 5158 broad.mit.edu 37 4 619713 619713 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:619713C>T uc003gap.2 + 1 351 c.298C>T c.(298-300)CGC>TGC p.R100C PDE6B_uc003gao.3_Missense_Mutation_p.R100C NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 100 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 GTACCGCCAGCGCAACGGCGT 0.672 CPLX1 10815 broad.mit.edu 37 4 780405 780405 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:780405G>A uc003gbi.2 - 4 480 c.289C>T c.(289-291)CCC>TCC p.P97S CPLX1_uc003gbj.2_Missense_Mutation_p.P76S NM_006651 NP_006642 O14810 CPLX1_HUMAN complexin 1 97 glutamate secretion cytosol 0 Colorectal(103;0.187) GCCTTCTTGGGCCGCGTCAAG 0.697 TLR1 7096 broad.mit.edu 37 4 38799339 38799339 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:38799339T>C uc003gtl.2 - 4 1388 c.1114A>G c.(1114-1116)ACT>GCT p.T372A NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 372 Extracellular (Potential).|LRR 6. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 TCCAACTCAGTAAGGTGCCCA 0.363 POLR2B 5431 broad.mit.edu 37 4 57873014 57873014 + Missense_Mutation SNP T T A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:57873014T>A uc003hcl.1 + 10 1293 c.1250T>A c.(1249-1251)ATC>AAC p.I417N POLR2B_uc011cae.1_Missense_Mutation_p.I410N|POLR2B_uc011caf.1_Missense_Mutation_p.I342N|POLR2B_uc003hcm.1_5'Flank NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 417 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) GAAGTGCGGATCTATGCACAG 0.333 FAM13A 10144 broad.mit.edu 37 4 89912232 89912232 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:89912232C>T uc003hse.1 - 4 705 c.497G>A c.(496-498)TGC>TAC p.C166Y FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.C166Y|FAM13A_uc003hsj.2_Missense_Mutation_p.C166Y NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 166 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CTTGAGGAGGCAGTAGTGGGT 0.408 COL25A1 84570 broad.mit.edu 37 4 109841761 109841761 + Splice_Site SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:109841761C>T uc003hze.1 - 11 1240 c.709_splice c.e11-1 p.G237_splice COL25A1_uc003hzg.2_Splice_Site_p.G237_splice|COL25A1_uc003hzd.2_Splice_Site|COL25A1_uc003hzf.2_Splice_Site_p.G18_splice NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CTAGAGGACCCTAAAAAAGAA 0.368 SEC24B 10427 broad.mit.edu 37 4 110437729 110437729 + Missense_Mutation SNP T T A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:110437729T>A uc003hzk.2 + 11 2114 c.2059T>A c.(2059-2061)TCT>ACT p.S687T SEC24B_uc003hzl.2_Missense_Mutation_p.S652T|SEC24B_uc011cfp.1_Missense_Mutation_p.S717T|SEC24B_uc011cfq.1_Missense_Mutation_p.S686T|SEC24B_uc011cfr.1_Missense_Mutation_p.S651T NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 687 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTTAGATGTGTCTCATAATGC 0.318 C4orf31 79625 broad.mit.edu 37 4 121966864 121966864 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:121966864C>T uc003idq.1 - 2 656 c.129G>A c.(127-129)TCG>TCA p.S43S NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 43 0 GAATTACTGACGAATCATGAA 0.428 TRPC3 7222 broad.mit.edu 37 4 122853759 122853759 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:122853759G>A uc003ieg.2 - 2 728 c.654C>T c.(652-654)GAC>GAT p.D218D TRPC3_uc010inr.2_Silent_p.D145D|TRPC3_uc003ief.2_Silent_p.D145D|TRPC3_uc011cgl.1_Translation_Start_Site NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 133 Cytoplasmic (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 CGTAGAAGTCGTCGTCCTGCA 0.627 PCDH10 57575 broad.mit.edu 37 4 134072543 134072543 + Silent SNP T T A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:134072543T>A uc003iha.2 + 1 2074 c.1248T>A c.(1246-1248)GTT>GTA p.V416V uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.V416V NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 416 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) ACACCATCGTTACCGAAGCCC 0.607 PCDH10 57575 broad.mit.edu 37 4 134073243 134073243 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:134073243C>A uc003iha.2 + 1 2774 c.1948C>A c.(1948-1950)CCC>ACC p.P650T uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P650T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 650 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CAAGCGCGACCCCCAGCGGCC 0.662 CTSO 1519 broad.mit.edu 37 4 156849542 156849542 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:156849542T>C uc003ipg.2 - 7 926 c.877A>G c.(877-879)AGT>GGT p.S293G NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 293 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CCCCAAGAACTTCCCCAGGAA 0.348 NEIL3 55247 broad.mit.edu 37 4 178231192 178231192 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:178231192G>A uc003iut.2 + 1 202 c.85G>A c.(85-87)GGA>AGA p.G29R NEIL3_uc010irs.2_5'UTR NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 29 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CGGCGTGCGGGGAAGCGCTCT 0.672 BER_DNA_glycosylases CLDN22 53842 broad.mit.edu 37 4 184240855 184240855 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:184240855C>T uc010isa.1 - 1 1073 c.517G>A c.(517-519)GGA>AGA p.G173R WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR NM_001111319 NP_001104789 Q8N7P3 CLD22_HUMAN claudin 22 173 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AGAGAAAGTCCAGCAAACCAG 0.587 KCNN2 3781 broad.mit.edu 37 5 113699632 113699632 + Nonsense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr5:113699632C>A uc003kqo.2 + 2 973 c.516C>A c.(514-516)TGC>TGA p.C172* NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 172 Helical; Name=Segment S2; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTCTGAAATGCCTTATCAGTC 0.483 MEGF10 84466 broad.mit.edu 37 5 126754837 126754837 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr5:126754837C>G uc003kuh.3 + 12 1693 c.1331C>G c.(1330-1332)CCT>CGT p.P444R MEGF10_uc010jdc.1_Missense_Mutation_p.P444R|MEGF10_uc010jdd.1_Missense_Mutation_p.P444R|MEGF10_uc003kui.3_Missense_Mutation_p.P444R NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 444 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACCCCATGCCCTCTGGGAACC 0.448 TGFBI 7045 broad.mit.edu 37 5 135391437 135391437 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr5:135391437G>A uc003lbf.3 + 11 1640 c.1479G>A c.(1477-1479)ACG>ACA p.T493T TGFBI_uc003lbg.3_Silent_p.T226T|TGFBI_uc003lbh.3_Silent_p.T319T|TGFBI_uc011cyb.1_Silent_p.T319T|TGFBI_uc010jed.2_Silent_p.T226T NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 493 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCCTGTTCACGATGGACCGGG 0.572 PCDHA12 56137 broad.mit.edu 37 5 140256590 140256590 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr5:140256590C>T uc003lic.2 + 1 1660 c.1533C>T c.(1531-1533)CAC>CAT p.H511H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.H511H NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 511 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCGGTGCACGCGGAGAGCG 0.706 PCDHAC1 56135 broad.mit.edu 37 5 140308104 140308104 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr5:140308104T>G uc003lih.2 + 1 1803 c.1627T>G c.(1627-1629)TTG>GTG p.L543V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L543V NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 543 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTATAAACTTGTTTGTGGT 0.478 PCDHB2 56133 broad.mit.edu 37 5 140475135 140475135 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr5:140475135C>T uc003lil.2 + 1 899 c.761C>T c.(760-762)CCG>CTG p.P254L PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 254 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGCAGATCCCGGAGGACAGC 0.517 POU4F3 5459 broad.mit.edu 37 5 145719186 145719186 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr5:145719186G>A uc003loa.2 + 2 285 c.196G>A c.(196-198)GTC>ATC p.V66I NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 66 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGGATATCGTCTCCCACGG 0.602 HIST1H4H 8365 broad.mit.edu 37 6 26285677 26285677 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:26285677C>A uc003nhm.2 - 1 51 c.51G>T c.(49-51)AAG>AAT p.K17N HIST1H4H_uc003nhl.1_RNA NM_003543 NP_003534 P62805 H4_HUMAN histone cluster 1, H4h 17 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 TGCGATGACGCTTAGCTCCTC 0.507 HNSCC(76;0.23) OR2W1 26692 broad.mit.edu 37 6 29012625 29012625 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:29012625C>T uc003nlw.2 - 1 328 c.328G>A c.(328-330)GTT>ATT p.V110I NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AGGCACTCAACTGAGCCCAAC 0.433 C6orf153 88745 broad.mit.edu 37 6 42995125 42995125 + Nonsense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:42995125C>T uc003otp.1 + 6 561 c.553C>T c.(553-555)CGA>TGA p.R185* NM_033112 NP_149103 Q96EU6 RRP36_HUMAN hypothetical protein LOC88745 185 Potential. ribosomal small subunit biogenesis|rRNA processing nucleolus 0 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) ACAGCAGGAACGAAAGCAACA 0.532 RCAN2 10231 broad.mit.edu 37 6 46190976 46190976 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:46190976C>T uc003oyb.1 - 4 811 c.496G>A c.(496-498)GAC>AAC p.D166N RCAN2_uc003oyc.1_Missense_Mutation_p.D212N|RCAN2_uc003oyd.1_Missense_Mutation_p.D212N NM_005822 NP_005813 Q14206 RCAN2_HUMAN Down syndrome critical region gene 1-like 1 166 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding 0 ATGTCACTGTCGCACACGTGC 0.537 PKHD1 5314 broad.mit.edu 37 6 51913367 51913367 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:51913367G>A uc003pah.1 - 23 2606 c.2330C>T c.(2329-2331)ACG>ATG p.T777M PKHD1_uc003pai.2_Missense_Mutation_p.T777M NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 777 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TCTCTGTGTCGTCACCAGGAC 0.527 TMEM30A 55754 broad.mit.edu 37 6 75968636 75968636 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:75968636C>T uc003phw.2 - 6 1030 c.752G>A c.(751-753)GGA>GAA p.G251E TMEM30A_uc003phx.2_Missense_Mutation_p.G215E NM_018247 NP_060717 Q9NV96 CC50A_HUMAN transmembrane protein 30A isoform 1 251 integral to membrane 0 ATTTATGAATCCATTATTATC 0.388 ASCC3 10973 broad.mit.edu 37 6 101076966 101076966 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:101076966C>A uc003pqk.2 - 27 4629 c.4300G>T c.(4300-4302)GTC>TTC p.V1434F NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1434 Helicase ATP-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTTCTGCTGACTCCATCCCAC 0.453 FIG4 9896 broad.mit.edu 37 6 110048334 110048334 + Silent SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:110048334C>G uc003ptt.2 + 4 527 c.312C>G c.(310-312)GGC>GGG p.G104G FIG4_uc011eau.1_Intron NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 104 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TCTTAGAAGGCTATTATATTG 0.323 HIVEP2 3097 broad.mit.edu 37 6 143092978 143092978 + Missense_Mutation SNP G G C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:143092978G>C uc003qjd.2 - 5 3641 c.2898C>G c.(2896-2898)AGC>AGG p.S966R NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 966 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CTTGGCTGGGGCTGCGGGAGA 0.512 STX11 8676 broad.mit.edu 37 6 144508051 144508051 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:144508051G>A uc003qks.3 + 2 479 c.287G>A c.(286-288)CGG>CAG p.R96Q NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 96 RG -> PP (in Ref. 1; AAD02107). cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) ATCAAGGCCCGGGGCGAGGTC 0.677 Familial_Hemophagocytic_Lymphohistiocytosis MAP3K4 4216 broad.mit.edu 37 6 161512447 161512447 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr6:161512447G>A uc003qtn.2 + 12 3152 c.3010G>A c.(3010-3012)GCC>ACC p.A1004T MAP3K4_uc010kkc.1_Missense_Mutation_p.A1004T|MAP3K4_uc003qto.2_Missense_Mutation_p.A1004T|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.A457T|MAP3K4_uc003qtp.2_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1004 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GATAAGCAATGCCATTGACCG 0.398 SDK1 221935 broad.mit.edu 37 7 4188957 4188957 + Missense_Mutation SNP G G A rs141114121 TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr7:4188957G>A uc003smx.2 + 30 4626 c.4487G>A c.(4486-4488)CGG>CAG p.R1496Q SDK1_uc010kso.2_Missense_Mutation_p.R772Q|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1496 Fibronectin type-III 9. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGCAGCCTCCGGCTCCAGTGG 0.672 SLC29A4 222962 broad.mit.edu 37 7 5327609 5327609 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr7:5327609G>A uc003sod.2 + 2 323 c.162G>A c.(160-162)ACG>ACA p.T54T SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.T54T|SLC29A4_uc003soe.2_Silent_p.T54T NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 54 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CAGCTTTCACGGATACTAGTA 0.647 CCDC129 223075 broad.mit.edu 37 7 31682400 31682400 + Silent SNP G G A rs146986060 TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr7:31682400G>A uc003tcj.1 + 11 2409 c.1416G>A c.(1414-1416)TCG>TCA p.S472S CCDC129_uc011kad.1_Silent_p.S482S|CCDC129_uc003tci.1_Silent_p.S323S|CCDC129_uc011kae.1_Silent_p.S498S|CCDC129_uc003tck.1_Silent_p.S380S NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 472 0 AGCTAGAGTCGGATGGGCCAG 0.502 GRB10 2887 broad.mit.edu 37 7 50737431 50737431 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr7:50737431G>A uc003tpi.2 - 4 523 c.492C>T c.(490-492)GCC>GCT p.A164A GRB10_uc003tph.3_Silent_p.A106A|GRB10_uc003tpj.2_Silent_p.A164A|GRB10_uc003tpk.2_Silent_p.A164A|GRB10_uc010kzb.2_Silent_p.A106A|GRB10_uc003tpl.2_Silent_p.A158A|GRB10_uc003tpm.2_Silent_p.A106A|GRB10_uc003tpn.2_Silent_p.A106A NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 164 insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) GCTTTGCGGCGGCCTGGCTCG 0.587 Russell-Silver_syndrome FZD1 8321 broad.mit.edu 37 7 90895618 90895618 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr7:90895618G>A uc003ula.2 + 1 1836 c.1423G>A c.(1423-1425)GGA>AGA p.G475R NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 475 Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGTGCTGAGCGGAGTGTGCTT 0.622 ABP1 26 broad.mit.edu 37 7 150557647 150557647 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr7:150557647C>T uc003why.1 + 5 6133 c.1915C>T c.(1915-1917)CAC>TAC p.H639Y ABP1_uc003whz.1_Missense_Mutation_p.H639Y|ABP1_uc003wia.1_Missense_Mutation_p.H658Y NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 639 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CAGCATCTACCACCAGAACGA 0.617 CSMD1 64478 broad.mit.edu 37 8 3855478 3855478 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:3855478T>C uc011kwk.1 - 5 1155 c.765A>G c.(763-765)CTA>CTG p.L255L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 255 Extracellular (Potential).|CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATCCTTCTTCTAGCTGAAAGT 0.522 TUSC3 7991 broad.mit.edu 37 8 15480610 15480610 + Nonsense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:15480610G>T uc003wwt.2 + 2 370 c.160G>T c.(160-162)GAG>TAG p.E54* TUSC3_uc003wwr.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wws.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwu.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwv.2_Nonsense_Mutation_p.E54*|TUSC3_uc003www.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Nonsense_Mutation_p.E54* NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 54 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) TGAAAAAGTAGAGCAGCTGAT 0.333 ADRA1A 148 broad.mit.edu 37 8 26721669 26721669 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:26721669G>A uc003xfh.1 - 1 1254 c.818C>T c.(817-819)ACG>ATG p.T273M ADRA1A_uc003xfc.1_Missense_Mutation_p.T273M|ADRA1A_uc010lul.1_Missense_Mutation_p.T273M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.T273M|ADRA1A_uc010lum.1_Missense_Mutation_p.T273M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.T273M NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 273 Cytoplasmic (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GATGCCCAGCGTTTTGGCCGC 0.582 ZNF395 55893 broad.mit.edu 37 8 28206254 28206254 + Silent SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:28206254G>A uc003xgq.2 - 10 1612 c.1524C>T c.(1522-1524)TGC>TGT p.C508C ZNF395_uc003xgt.2_Silent_p.C508C|ZNF395_uc003xgr.2_Silent_p.C508C|ZNF395_uc003xgs.2_Silent_p.C508C NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 508 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GAAAGCGCTGGCAGGCCTTCT 0.627 UNC5D 137970 broad.mit.edu 37 8 35588560 35588560 + Missense_Mutation SNP T T A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:35588560T>A uc003xjr.1 + 11 2040 c.1712T>A c.(1711-1713)ATC>AAC p.I571N UNC5D_uc003xjs.1_Missense_Mutation_p.I566N|UNC5D_uc003xju.1_Missense_Mutation_p.I147N NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 571 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CACGGTGCCATCCCAGAGGAG 0.378 ZMAT4 79698 broad.mit.edu 37 8 40554921 40554921 + Splice_Site SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:40554921C>T uc003xnr.2 - 4 339 c.193_splice c.e4-1 p.G65_splice ZMAT4_uc003xns.2_Splice_Site_p.G65_splice NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CATCACTTCCCTGCGCAGGGA 0.453 SNTG1 54212 broad.mit.edu 37 8 51571221 51571221 + Nonsense_Mutation SNP A A T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:51571221A>T uc010lxy.1 + 16 1407 c.1036A>T c.(1036-1038)AAG>TAG p.K346* SNTG1_uc003xqs.1_Nonsense_Mutation_p.K346*|SNTG1_uc010lxz.1_Nonsense_Mutation_p.K346*|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 346 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CAAGATCCTCAAGGTATGATC 0.368 SDCBP 6386 broad.mit.edu 37 8 59484832 59484832 + Missense_Mutation SNP C C T rs144425100 byFrequency TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:59484832C>T uc003xtn.2 + 4 349 c.199C>T c.(199-201)CGT>TGT p.R67C SDCBP_uc003xto.2_Missense_Mutation_p.R67C|SDCBP_uc003xtr.2_Missense_Mutation_p.R67C|SDCBP_uc003xtp.2_Missense_Mutation_p.R61C|SDCBP_uc003xtq.2_Missense_Mutation_p.R67C|SDCBP_uc003xts.2_Missense_Mutation_p.R74C|SDCBP_uc011led.1_Missense_Mutation_p.R67C NM_005625 NP_005616 O00560 SDCB1_HUMAN syntenin isoform 1 67 actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding 0 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AGAAGAAATACGTGCAAATGT 0.338 TRIM55 84675 broad.mit.edu 37 8 67040664 67040664 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:67040664C>A uc003xvv.2 + 2 520 c.294C>A c.(292-294)AAC>AAA p.N98K TRIM55_uc003xvu.2_Missense_Mutation_p.N98K|TRIM55_uc003xvw.2_Missense_Mutation_p.N98K|TRIM55_uc003xvx.2_Missense_Mutation_p.N98K NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 98 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TTCAGAGGAACCTGCTGGTGG 0.488 C8orf34 116328 broad.mit.edu 37 8 69621266 69621266 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:69621266T>C uc010lyz.2 + 9 1070 c.1021T>C c.(1021-1023)TCA>CCA p.S341P C8orf34_uc003xyb.2_Missense_Mutation_p.S316P NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 341 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GACAGAAGAGTCACTACCAAT 0.333 XKR9 389668 broad.mit.edu 37 8 71646321 71646321 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:71646321T>C uc003xyq.2 + 5 1318 c.784T>C c.(784-786)TTA>CTA p.L262L XKR9_uc010lze.2_Silent_p.L262L|XKR9_uc010lzd.2_Silent_p.L130L NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 262 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TATGGAATTCTTATATAGGAT 0.284 ATAD2 29028 broad.mit.edu 37 8 124371477 124371477 + Missense_Mutation SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:124371477T>C uc003yqh.3 - 11 1474 c.1366A>G c.(1366-1368)AAA>GAA p.K456E ATAD2_uc011lii.1_Missense_Mutation_p.K247E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.K456E NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GGTTGAATTTTAAATTTTTCA 0.323 BNC2 54796 broad.mit.edu 37 9 16435946 16435946 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:16435946C>T uc003zml.2 - 6 2386 c.2246G>A c.(2245-2247)AGT>AAT p.S749N BNC2_uc011lmw.1_Missense_Mutation_p.S654N|BNC2_uc003zmm.2_Missense_Mutation_p.S707N|BNC2_uc003zmq.1_Missense_Mutation_p.S763N|BNC2_uc003zmr.1_Missense_Mutation_p.S786N|BNC2_uc003zmp.1_Missense_Mutation_p.S777N|BNC2_uc010mij.1_Missense_Mutation_p.S671N|BNC2_uc011lmv.1_Missense_Mutation_p.S575N|BNC2_uc003zmo.1_Missense_Mutation_p.S671N|BNC2_uc003zmj.2_Missense_Mutation_p.S514N|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S514N|BNC2_uc003zmn.1_Missense_Mutation_p.S514N NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GACTTTTTCACTCACTTCGCT 0.512 BNC2 54796 broad.mit.edu 37 9 16436469 16436469 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:16436469T>G uc003zml.2 - 6 1863 c.1723A>C c.(1723-1725)AGT>CGT p.S575R BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 575 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GTGAGTAAACTTCTATAAAAT 0.517 APBA1 320 broad.mit.edu 37 9 72131493 72131493 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:72131493C>T uc004ahh.2 - 2 910 c.634G>A c.(634-636)GGC>AGC p.G212S NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 212 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 AGCCGCAGGCCGTCGCGTGCG 0.716 ASTN2 23245 broad.mit.edu 37 9 120053656 120053656 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:120053656C>A uc004bjs.1 - 2 680 c.579G>T c.(577-579)GAG>GAT p.E193D ASTN2_uc004bjr.1_Missense_Mutation_p.E193D|ASTN2_uc004bjt.1_Missense_Mutation_p.E193D NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 193 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TCTCCGAGGGCTCCTGGAGAG 0.612 TLR4 7099 broad.mit.edu 37 9 120475046 120475046 + Missense_Mutation SNP C C G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:120475046C>G uc004bjz.2 + 3 931 c.640C>G c.(640-642)CCT>GCT p.P214A TLR4_uc004bka.2_Missense_Mutation_p.P174A|TLR4_uc004bkb.2_Missense_Mutation_p.P14A NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 214 LRR 7.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 GTCCCTGAACCCTATGAACTT 0.358 NR6A1 2649 broad.mit.edu 37 9 127298387 127298387 + Silent SNP T T C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:127298387T>C uc004bor.1 - 7 1027 c.849A>G c.(847-849)CTA>CTG p.L283L NR6A1_uc004boq.1_Silent_p.L278L|NR6A1_uc010mwq.1_Silent_p.L279L NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 283 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GCAGGGCAAATAGTTCTGCCT 0.527 ENG 2022 broad.mit.edu 37 9 130587127 130587127 + Missense_Mutation SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:130587127C>T uc004bsj.3 - 7 1356 c.943G>A c.(943-945)GTG>ATG p.V315M ENG_uc011mam.1_Missense_Mutation_p.V126M|ENG_uc004bsk.3_Missense_Mutation_p.V315M NM_001114753 NP_001108225 P17813 EGLN_HUMAN endoglin isoform 1 precursor 315 Extracellular (Potential). artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding 0 GGTAGCTCCACGAAGGATGCC 0.473 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia SETX 23064 broad.mit.edu 37 9 135205035 135205035 + Missense_Mutation SNP C C A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:135205035C>A uc004cbk.2 - 10 2133 c.1950G>T c.(1948-1950)ATG>ATT p.M650I SETX_uc004cbj.2_Missense_Mutation_p.M269I|SETX_uc010mzt.2_Missense_Mutation_p.M269I NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 650 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTTGCACTTTCATTGGTTCTT 0.348 KCNT1 57582 broad.mit.edu 37 9 138683644 138683644 + Silent SNP C C T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:138683644C>T uc011mdq.1 + 30 3578 c.3504C>T c.(3502-3504)GAC>GAT p.D1168D KCNT1_uc011mdr.1_Silent_p.D1016D|KCNT1_uc010nbf.2_Silent_p.D1144D NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 1168 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCTTTGCAGACGAGATGAACG 0.642 PNPLA7 375775 broad.mit.edu 37 9 140437937 140437937 + Silent SNP G G A rs139510260 byFrequency TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr9:140437937G>A uc004cnf.2 - 5 715 c.378C>T c.(376-378)GAC>GAT p.D126D PNPLA7_uc010ncj.1_Silent_p.D151D NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 126 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) AATTCTTCACGTCAAACTCCG 0.602 SHROOM2 357 broad.mit.edu 37 X 9864517 9864517 + Missense_Mutation SNP G G A TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chrX:9864517G>A uc004csu.1 + 4 2659 c.2569G>A c.(2569-2571)GCA>ACA p.A857T NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 857 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CGCTCACAGCGCAGCGGAGAA 0.652 PHEX 5251 broad.mit.edu 37 X 22244602 22244602 + Nonsense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chrX:22244602G>T uc004dah.2 + 19 2145 c.1942G>T c.(1942-1944)GGA>TGA p.G648* PHEX_uc011mjr.1_Nonsense_Mutation_p.G648*|PHEX_uc011mjs.1_Nonsense_Mutation_p.G551* NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 648 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 TGCTGATAATGGAGGCCTGCG 0.418 DMD 1756 broad.mit.edu 37 X 32490330 32490330 + Missense_Mutation SNP A A C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chrX:32490330A>C uc004dda.1 - 22 3144 c.2900T>G c.(2899-2901)CTT>CGT p.L967R DMD_uc004dcz.2_Missense_Mutation_p.L844R|DMD_uc004dcy.1_Missense_Mutation_p.L963R|DMD_uc004ddb.1_Missense_Mutation_p.L959R|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 967 Spectrin 6. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGTGACACTAAGTTGAGGTAT 0.443 ATRX 546 broad.mit.edu 37 X 76939922 76939922 + Missense_Mutation SNP A A C TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chrX:76939922A>C uc004ecp.3 - 9 1058 c.826T>G c.(826-828)TTG>GTG p.L276V ATRX_uc004ecq.3_Missense_Mutation_p.L238V|ATRX_uc004eco.3_Missense_Mutation_p.L61V|ATRX_uc004ecr.2_Missense_Mutation_p.L237V|ATRX_uc010nlx.1_Missense_Mutation_p.L276V|ATRX_uc010nly.1_Missense_Mutation_p.L221V NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 276 ADD. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GCAGTGACCAAGTCCAACAAA 0.373 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome TRPC5 7224 broad.mit.edu 37 X 111195328 111195328 + Missense_Mutation SNP T T G TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chrX:111195328T>G uc004epl.1 - 2 1240 c.321A>C c.(319-321)GAA>GAC p.E107D TRPC5_uc004epm.1_Missense_Mutation_p.E107D NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 107 ANK 3.|Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 CGCCCACCACTTCCTTGCGTA 0.532 ODZ1 10178 broad.mit.edu 37 X 124030034 124030034 + Missense_Mutation SNP G G T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chrX:124030034G>T uc004euj.2 - 2 338 c.274C>A c.(274-276)CAC>AAC p.H92N ODZ1_uc011muj.1_Missense_Mutation_p.H92N|ODZ1_uc010nqy.2_Missense_Mutation_p.H92N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 92 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GAAACGCTGTGCATGTCTGTT 0.468 IQCH 64799 broad.mit.edu 37 15 67664965 67664965 + Frame_Shift_Del DEL C C - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr15:67664965delC uc002aqo.1 + 9 1317 c.1270delC c.(1270-1272)CAGfs p.Q424fs IQCH_uc010ujv.1_Frame_Shift_Del_p.Q243fs|IQCH_uc002aqn.1_Frame_Shift_Del_p.Q251fs|IQCH_uc002aqq.1_Frame_Shift_Del_p.Q172fs|IQCH_uc002aqp.1_Frame_Shift_Del_p.Q176fs NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 424 skin(3)|ovary(1) 4 Colorectal(3;0.0856) GGAATCACGTCAGAGACACCT 0.463 GTF2F1 2962 broad.mit.edu 37 19 6380962 6380963 + Frame_Shift_Del DEL CC CC - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr19:6380962_6380963delCC uc002meq.2 - 11 1468_1469 c.1183_1184delGG c.(1183-1185)GGCfs p.G395fs GTF2F1_uc010xjb.1_Frame_Shift_Del_p.G216fs|GTF2F1_uc010xjc.1_Frame_Shift_Del_p.G310fs NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 395 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 GGAGGTGCTGCCACCCTCTGCG 0.683 PSME4 23198 broad.mit.edu 37 2 54120866 54120874 + In_Frame_Del DEL AATGATAGA AATGATAGA - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr2:54120865_54120873TAATGATAGA>T uc002rxp.2 - 34 4032_4040 c.3976_3984TCTATCATTA>A c.(3976-3984)ctatcatta>A p.LSL1326del PSME4_uc010yop.1_In_Frame_Del_p.LSL1212del|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_In_Frame_Del_p.LSL701del|PSME4_uc010fbv.1_In_Frame_Del_p.LSL470del NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 1326 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTCTGTCTTCTAATGATAGAAAAGTAATT 0.278 ENPP6 133121 broad.mit.edu 37 4 185074834 185074835 + Frame_Shift_Ins INS - - GGTGG TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr4:185074833_185074834T>TGGTGG uc003iwc.3 - 1 436_437 c.294_295A>CCACCA c.(292-297)accaccfs p.T98fs NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA. 98 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GACTTGTTGGTGGTGGGGTCCC 0.500 C5orf28 64417 broad.mit.edu 37 5 43446368 43446370 + In_Frame_Del DEL TGG TGG - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr5:43446367_43446369CTGG>C uc003jny.3 - 2 746_748 c.603_605CCAG>G c.(601-606)accaga>acGa p.R202del C5orf28_uc003jnv.4_In_Frame_Del_p.R202del|C5orf28_uc003jnx.3_In_Frame_Del_p.R202del NM_022483 NP_071928 Q0VDI3 CE028_HUMAN Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA. 202 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(5) 9 Lung NSC(6;2.07e-05) CATCATTTGTCTGGTTCCTGTTA 0.384 SGK223 157285 broad.mit.edu 37 8 8234511 8234517 + Frame_Shift_Del DEL CTGACAC CTGACAC - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr8:8234510_8234516GCTGACAC>G uc003wsh.4 - 1 1403_1409 c.1403_1409GTGTCAGC>C c.(1402-1410)gtgtcagccfs p.V468fs NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 468 ATP binding|non-membrane spanning protein tyrosine kinase activity TGTGATGGTGGCTGACACCTGGGGAGT 0.657 OR4C12 283093 broad.mit.edu 37 11 50003129 50003129 + Frame_Shift_Del DEL T T - TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr11:50003128_50003128CT>C uc010ria.2 - 0 944 c.910_910AG>G c.(910-912)gtgfs p.V304fs NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V304fs*5(1) NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TCTGAAGTCACTTTTTTTCTC 0.343 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-CD-8524-01A-11D-2340-08 TCGA-CD-8524-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e14ace57-4067-4f59-8bec-b9876d7d51e4 491cdfeb-f845-481d-8d6a-962773c82b69 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653