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 PRAMEF4 400735 broad.mit.edu 37 1 12942129 12942129 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:12942129G>A uc001aun.2 - 3 492 c.421C>T c.(421-423)CCA>TCA p.P141S NM_001009611 NP_001009611 O60810 PRAM4_HUMAN PRAME family member 4 141 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTCATCCTTGGACAGTCCTCC 0.502000 DMAP1 55929 broad.mit.edu 37 1 44684864 44684864 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:44684864G>A uc001clq.1 + 7 937 c.857G>A c.(856-858)CGC>CAC p.R286H DMAP1_uc001clr.1_Missense_Mutation_p.R286H|DMAP1_uc001cls.1_Missense_Mutation_p.R286H|DMAP1_uc010oku.1_Missense_Mutation_p.R276H NM_001034024 NP_001029196 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 286 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding 0 Acute lymphoblastic leukemia(166;0.155) CGCACGGAACGCAAGGCCCCC 0.612000 LRRIQ3 127255 broad.mit.edu 37 1 74621486 74621486 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:74621486A>G uc001dfy.3 - 4 830 c.638T>C c.(637-639)CTG>CCG p.L213P LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 213 ovary(2) 2 ATTATGAGCCAGAATTGCATT 0.244000 DRAM2 128338 broad.mit.edu 37 1 111663184 111663184 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:111663184C>G uc001ead.3 - 6 728 c.471G>C c.(469-471)TGG>TGC p.W157C DRAM2_uc001eae.3_Missense_Mutation_p.W157C|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Missense_Mutation_p.W27C NM_178454 NP_848549 Q6UX65 DRAM2_HUMAN transmembrane protein 77 157 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane 0 ACAGTCTGATCCAGAAGACTT 0.423000 FLG 2312 broad.mit.edu 37 1 152284662 152284662 + Silent SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:152284662T>C uc001ezu.1 - 3 2736 c.2700A>G c.(2698-2700)GAA>GAG p.E900E uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 900 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTTGATTGTTCCTCATTAC 0.562000 Ichthyosis LCE2C 353140 broad.mit.edu 37 1 152648577 152648577 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:152648577C>G uc001fah.2 + 2 141 c.86C>G c.(85-87)CCC>CGC p.P29R NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 29 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) cctaagtgtccccccaaATGC 0.438000 FCRL2 79368 broad.mit.edu 37 1 157739893 157739893 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:157739893C>T uc001fre.2 - 4 417 c.358G>A c.(358-360)GAA>AAA p.E120K FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.E120K|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.E120K NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 120 Extracellular (Potential).|Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGACCCCCTTCGATGGGCTGG 0.532000 ADAMTS4 9507 broad.mit.edu 37 1 161166028 161166028 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:161166028C>T uc001fyt.3 - 3 1451 c.1023G>A c.(1021-1023)CCG>CCA p.P341P ADAMTS4_uc001fyu.2_3'UTR NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 341 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGCTCCGAGCCGGGTCACAGA 0.562000 PAPPA2 60676 broad.mit.edu 37 1 176668713 176668713 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:176668713A>C uc001gkz.2 + 8 4388 c.3224A>C c.(3223-3225)AAG>ACG p.K1075T PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1075 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TCTCACAGGAAGTTCACGGAC 0.537000 B3GALT2 8707 broad.mit.edu 37 1 193150565 193150565 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:193150565A>T uc001gtc.3 - 2 843 c.128T>A c.(127-129)TTC>TAC p.F43Y CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 43 Helical; Signal-anchor for type II membrane protein; (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 ATGATGATTGAAAAACAAAAA 0.418000 KCNT2 343450 broad.mit.edu 37 1 196250003 196250003 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:196250003A>G uc001gtd.1 - 25 2957 c.2897T>C c.(2896-2898)CTT>CCT p.L966P KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L892P|KCNT2_uc001gtf.1_Missense_Mutation_p.L942P|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L942P|KCNT2_uc001gth.1_Missense_Mutation_p.L463P NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 966 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 AGATGTAGTAAGTTTCTGAGA 0.328000 ZNF281 23528 broad.mit.edu 37 1 200377112 200377112 + Silent SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:200377112A>C uc001gve.2 - 2 1829 c.1722T>G c.(1720-1722)GTT>GTG p.V574V ZNF281_uc001gvf.1_Silent_p.V574V|ZNF281_uc001gvg.1_Silent_p.V538V NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 574 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 CATTGTCCAAAACACTGACAC 0.423000 CR1 1378 broad.mit.edu 37 1 207684998 207684998 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:207684998C>G uc001hfy.2 + 4 626 c.486C>G c.(484-486)GAC>GAG p.D162E CR1_uc009xcl.1_Missense_Mutation_p.D162E|CR1_uc001hfx.2_Missense_Mutation_p.D162E|CR1_uc009xcj.1_Missense_Mutation_p.D162E|CR1_uc009xck.1_Missense_Mutation_p.D162E NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 162 Extracellular (Potential).|Sushi 2. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CTATTTGTGACAGtgagttga 0.214000 LIN9 286826 broad.mit.edu 37 1 226475499 226475499 + Splice_Site SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:226475499C>T uc001hqa.2 - 5 623 c.313_splice c.e5-1 p.K105_splice LIN9_uc001hqb.2_Splice_Site_p.K70_splice|LIN9_uc001hqc.2_Splice_Site_p.K37_splice|LIN9_uc009xel.1_Splice_Site_p.K70_splice NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) CTGTAAATTTCTATACAATAA 0.294000 ACTA1 58 broad.mit.edu 37 1 229568156 229568156 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:229568156G>A uc001htm.2 - 4 582 c.477C>T c.(475-477)GAC>GAT p.D159D NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 159 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGGTGACGCCGTCGCCGGAGT 0.637000 ACTN2 88 broad.mit.edu 37 1 236902755 236902755 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:236902755A>G uc001hyf.2 + 10 1234 c.1030A>G c.(1030-1032)AAC>GAC p.N344D ACTN2_uc001hyg.2_Missense_Mutation_p.N136D|ACTN2_uc009xgi.1_Missense_Mutation_p.N344D|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.N32D NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 344 Spectrin 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCTGGAGATCAACTTCAACAC 0.582000 ACTN2 88 broad.mit.edu 37 1 236910982 236910982 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:236910982C>T uc001hyf.2 + 13 1626 c.1422C>T c.(1420-1422)CAC>CAT p.H474H ACTN2_uc001hyg.2_Silent_p.H266H|ACTN2_uc009xgi.1_Silent_p.H474H|ACTN2_uc010pxu.1_Silent_p.H163H|ACTN2_uc001hyh.2_Silent_p.H162H NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 474 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGGACTATCACGACGCTGTGA 0.408000 TRIM58 25893 broad.mit.edu 37 1 248020713 248020713 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr1:248020713C>T uc001ido.2 + 1 213 c.165C>T c.(163-165)TAC>TAT p.Y55Y NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 55 RING-type. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCGGCGTCTACGCCTGTCCGC 0.701000 KIAA1462 57608 broad.mit.edu 37 10 30318221 30318221 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr10:30318221G>A uc001iux.2 - 2 915 c.856C>T c.(856-858)CGG>TGG p.R286W KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R148W|KIAA1462_uc009xle.1_Missense_Mutation_p.R286W NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 286 Pro-rich. ovary(4) 4 AACTTAGGCCGGGGAAATGGG 0.562000 PCDH15 65217 broad.mit.edu 37 10 56423950 56423950 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr10:56423950A>C uc001jju.1 - 2 468 c.73T>G c.(73-75)TTG>GTG p.L25V PCDH15_uc010qhq.1_Missense_Mutation_p.L25V|PCDH15_uc010qhr.1_Missense_Mutation_p.L25V|PCDH15_uc010qhs.1_Missense_Mutation_p.L25V|PCDH15_uc010qht.1_Missense_Mutation_p.L25V|PCDH15_uc010qhu.1_Missense_Mutation_p.L25V|PCDH15_uc001jjv.1_Missense_Mutation_p.L25V|PCDH15_uc010qhv.1_Missense_Mutation_p.L25V|PCDH15_uc010qhw.1_Missense_Mutation_p.L25V|PCDH15_uc010qhx.1_Missense_Mutation_p.L25V|PCDH15_uc010qhy.1_Missense_Mutation_p.L25V|PCDH15_uc010qhz.1_Missense_Mutation_p.L25V|PCDH15_uc010qia.1_Missense_Mutation_p.L25V|PCDH15_uc010qib.1_Missense_Mutation_p.L25V|PCDH15_uc001jjw.2_Missense_Mutation_p.L25V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 25 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TACTGGCCCAAGCAGATTTCA 0.388000 HNSCC(58;0.16) TRIM22 10346 broad.mit.edu 37 11 5730455 5730455 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:5730455A>C uc001mbr.2 + 8 1351 c.1074A>C c.(1072-1074)GAA>GAC p.E358D TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.E354D|TRIM22_uc010qzm.1_Missense_Mutation_p.E186D|TRIM22_uc009yeu.2_Missense_Mutation_p.E169D|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 358 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) ATTACTGGGAAGTAGATGTGT 0.418000 NLRP14 338323 broad.mit.edu 37 11 7064388 7064388 + Silent SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:7064388T>G uc001mfb.1 + 4 1454 c.1131T>G c.(1129-1131)ACT>ACG p.T377T NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 377 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CCGCTTGTACTTGTCTGAAGC 0.463000 OR10A6 390093 broad.mit.edu 37 11 7950014 7950014 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:7950014A>C uc010rbh.1 - 1 196 c.196T>G c.(196-198)TTA>GTA p.L66V NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACCACAGATAAGTTCAGGAGA 0.443000 AMPD3 272 broad.mit.edu 37 11 10500162 10500162 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:10500162C>T uc001mio.1 + 3 646 c.311C>T c.(310-312)CCG>CTG p.P104L AMPD3_uc010rbz.1_Intron|AMPD3_uc001min.1_Missense_Mutation_p.P113L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.P104L|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.P111L|AMPD3_uc009yfy.2_Missense_Mutation_p.P104L NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 104 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GCAGCCAGTCCGGCCATGTCT 0.592000 COPB1 1315 broad.mit.edu 37 11 14497331 14497331 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:14497331C>T uc001mli.2 - 13 1923 c.1616G>A c.(1615-1617)AGA>AAA p.R539K COPB1_uc001mlg.2_Missense_Mutation_p.R539K|COPB1_uc001mlh.2_Missense_Mutation_p.R539K NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 539 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 CATAAATTACCTGTCTTCCTC 0.403000 QSER1 79832 broad.mit.edu 37 11 32954335 32954335 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:32954335T>G uc001mty.2 + 4 1411 c.1144T>G c.(1144-1146)TCT>GCT p.S382A QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 382 Ser-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TTCTGGGTCATCTCAGACTGT 0.383000 OR4A15 81328 broad.mit.edu 37 11 55135904 55135904 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:55135904T>G uc010rif.1 + 1 545 c.545T>G c.(544-546)CTT>CGT p.L182R NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 182 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGAGGCTTTCTTCACTCATTG 0.423000 OR4C15 81309 broad.mit.edu 37 11 55322128 55322128 + Silent SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:55322128T>C uc010rig.1 + 1 346 c.346T>C c.(346-348)TTG>CTG p.L116L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTACTTCTTCTTGGGCTTCCT 0.448000 HNSCC(20;0.049) OR4C15 81309 broad.mit.edu 37 11 55322572 55322572 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:55322572T>C uc010rig.1 + 1 790 c.790T>C c.(790-792)TTC>CTC p.F264L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CATCATAAACTTCTCCTTGTT 0.478000 HNSCC(20;0.049) OR5L2 26338 broad.mit.edu 37 11 55595575 55595575 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:55595575A>T uc001nhy.1 + 1 881 c.881A>T c.(880-882)AAT>ATT p.N294I NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 294 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) AGCCTGAGAAATAAGGATGTG 0.468000 HNSCC(27;0.073) OR5W2 390148 broad.mit.edu 37 11 55681965 55681965 + Silent SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:55681965A>G uc010rir.1 - 1 94 c.94T>C c.(94-96)TTG>CTG p.L32L NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TAAACAGCCAAGAATACAGCA 0.353000 SLC29A2 3177 broad.mit.edu 37 11 66134027 66134027 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:66134027C>T uc001oht.2 - 8 971 c.742G>A c.(742-744)GGG>AGG p.G248R SLC29A2_uc001ohs.2_Missense_Mutation_p.G128R|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.G128R|SLC29A2_uc001ohu.2_Missense_Mutation_p.G248R|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 248 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 CTGGGAATCCCGTTCTCATCT 0.577000 PDE2A 5138 broad.mit.edu 37 11 72291953 72291953 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:72291953T>A uc010rrc.1 - 24 2353 c.2110A>T c.(2110-2112)AAC>TAC p.N704Y PDE2A_uc001oso.2_Missense_Mutation_p.N683Y|PDE2A_uc010rra.1_Missense_Mutation_p.N697Y|PDE2A_uc001osn.2_Missense_Mutation_p.N448Y|PDE2A_uc010rrb.1_Missense_Mutation_p.N695Y|PDE2A_uc010rrd.1_Missense_Mutation_p.N589Y NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 704 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AAAGAGTTGTTTGTGCCTCTG 0.532000 FAT3 120114 broad.mit.edu 37 11 92531044 92531044 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:92531044T>A uc001pdj.3 + 9 4882 c.4865T>A c.(4864-4866)ATC>AAC p.I1622N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1622 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTCCTAGGCATCATCACCATT 0.443000 TCGA Ovarian(4;0.039) TMEM133 83935 broad.mit.edu 37 11 100863358 100863358 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:100863358G>A uc001pgf.2 + 1 548 c.319G>A c.(319-321)GTT>ATT p.V107I NM_032021 NP_114410 Q9H2Q1 TM133_HUMAN transmembrane protein 133 107 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) CATTGTCACCGTTATCCCCCT 0.413000 DDI1 414301 broad.mit.edu 37 11 103908678 103908678 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:103908678A>C uc001phr.2 + 1 1371 c.1128A>C c.(1126-1128)CAA>CAC p.Q376H PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 376 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TAAGTGGGCAAGATGAGTCTT 0.443000 FEZ1 9638 broad.mit.edu 37 11 125359440 125359440 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:125359440G>A uc001qbx.2 - 2 386 c.234C>T c.(232-234)AAC>AAT p.N78N FEZ1_uc010sbc.1_Silent_p.N78N|FEZ1_uc001qby.1_Silent_p.N78N NM_005103 NP_005094 Q99689 FEZ1_HUMAN zygin 1 isoform 1 78 axon guidance|cell adhesion|transport microtubule|plasma membrane central_nervous_system(3)|ovary(1) 4 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) CGGTCTTGGCGTTGTAGTTCC 0.458000 OPCML 4978 broad.mit.edu 37 11 132527068 132527068 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr11:132527068A>G uc001qgs.2 - 2 364 c.314T>C c.(313-315)GTG>GCG p.V105A OPCML_uc001qgu.2_Missense_Mutation_p.V98A|OPCML_uc010sck.1_Missense_Mutation_p.V105A|OPCML_uc001qgt.2_Missense_Mutation_p.V105A|OPCML_uc010scl.1_Missense_Mutation_p.V64A NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 105 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) ATACACATCCACATTTTGGAT 0.502000 ATF7IP 55729 broad.mit.edu 37 12 14577210 14577210 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:14577210C>T uc001rbw.2 + 2 519 c.361C>T c.(361-363)CCA>TCA p.P121S ATF7IP_uc010shs.1_Missense_Mutation_p.P121S|ATF7IP_uc001rbu.2_Missense_Mutation_p.P121S|ATF7IP_uc001rbv.1_Missense_Mutation_p.P121S|ATF7IP_uc001rbx.2_Missense_Mutation_p.P121S|ATF7IP_uc010sht.1_Missense_Mutation_p.P121S|ATF7IP_uc001rby.3_Missense_Mutation_p.P121S|ATF7IP_uc001rbz.1_Missense_Mutation_p.P121S|ATF7IP_uc001rca.2_Missense_Mutation_p.P121S|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 121 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AACTCCAGAACCAGTCTCTAA 0.463000 PLCZ1 89869 broad.mit.edu 37 12 18865822 18865822 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:18865822A>C uc010sid.1 - 6 859 c.668T>G c.(667-669)CTT>CGT p.L223R PLCZ1_uc001rdv.3_Missense_Mutation_p.L119R|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 223 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTTAAACAGAAGTTTGCTTGT 0.378000 GYS2 2998 broad.mit.edu 37 12 21733310 21733310 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:21733310C>T uc001rfb.2 - 2 524 c.269G>A c.(268-270)AGA>AAA p.R90K NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 90 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 GTCCACTGCTCTTCTGACAGC 0.408000 TM7SF3 51768 broad.mit.edu 37 12 27148201 27148201 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:27148201C>A uc010sjl.1 - 5 897 c.659G>T c.(658-660)AGT>ATT p.S220I NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 220 integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) CTGGGGCACACTGACCATCCT 0.498000 CPNE8 144402 broad.mit.edu 37 12 39087498 39087498 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:39087498T>G uc001rls.1 - 15 1188 c.1104A>C c.(1102-1104)AAA>AAC p.K368N CPNE8_uc001rlr.1_Missense_Mutation_p.K27N NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 368 VWFA. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CTGGAGGCAGTTTTGCACCAA 0.353000 SLC38A4 55089 broad.mit.edu 37 12 47173394 47173394 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:47173394C>T uc001rpi.2 - 10 1116 c.717G>A c.(715-717)GTG>GTA p.V239V SLC38A4_uc001rpj.2_Silent_p.V239V|SLC38A4_uc009zkl.2_Silent_p.V239V NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 239 Helical; (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) CATCACTTACCACACTAACAA 0.378000 AQP2 359 broad.mit.edu 37 12 50344953 50344953 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:50344953G>A uc001rvn.2 + 1 430 c.340G>A c.(340-342)GGG>AGG p.G114R NM_000486 NP_000477 P41181 AQP2_HUMAN aquaporin 2 114 Extracellular (Potential). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity ovary(2) 2 AGACATCCGCGGGGACCTGGC 0.627000 KRT5 3852 broad.mit.edu 37 12 52910460 52910460 + Missense_Mutation SNP A A G rs60271599 TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:52910460A>G uc001san.2 - 7 1563 c.1400T>C c.(1399-1401)ATC>ACC p.I467T KRT5_uc009zmh.2_Missense_Mutation_p.I467T NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 467 Rod.|Coil 2. I -> T (in DM-EBS). epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) GTAAGTGGCGATCTCCACGTC 0.587000 MYO1H 283446 broad.mit.edu 37 12 109826622 109826622 + Silent SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:109826622C>A uc010sxn.1 + 1 99 c.99C>A c.(97-99)CGC>CGA p.R33R NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 ACAACCTCCGCAAGCGTTTCA 0.527000 KNTC1 9735 broad.mit.edu 37 12 123019236 123019236 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:123019236C>T uc001ucv.2 + 3 318 c.155C>T c.(154-156)GCA>GTA p.A52V KNTC1_uc010taf.1_Missense_Mutation_p.A52V NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 52 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AAGATACAGGCATGCAGCTTA 0.338000 FZD10 11211 broad.mit.edu 37 12 130648113 130648113 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:130648113C>T uc001uii.2 + 1 1082 c.626C>T c.(625-627)CCG>CTG p.P209L uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 209 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCGTGCGCGCCGCTCTGCACG 0.602000 USPL1 10208 broad.mit.edu 37 13 31232148 31232148 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:31232148T>C uc001utc.2 + 9 2366 c.1934T>C c.(1933-1935)ATT>ACT p.I645T USPL1_uc001utd.2_Missense_Mutation_p.I316T|USPL1_uc001ute.1_Missense_Mutation_p.I316T NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 645 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GAAAAGCTTATTCAAGACCAA 0.348000 NBEA 26960 broad.mit.edu 37 13 36006493 36006493 + Silent SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:36006493T>G uc001uvb.2 + 39 6473 c.6267T>G c.(6265-6267)ACT>ACG p.T2089T NBEA_uc010abi.2_Silent_p.T745T NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2089 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTGGCTCCACTCATGCTGAAG 0.433000 ENOX1 55068 broad.mit.edu 37 13 43896631 43896631 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:43896631G>A uc001uza.3 - 11 1450 c.1150C>T c.(1150-1152)CGG>TGG p.R384W ENOX1_uc001uzb.3_Missense_Mutation_p.R384W|ENOX1_uc001uzc.3_Missense_Mutation_p.R384W|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.R197W NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 384 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TGAGCATTCCGGAGCTCCTGC 0.448000 C13orf31 144811 broad.mit.edu 37 13 44455529 44455529 + Silent SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:44455529G>T uc010acg.2 + 2 893 c.408G>T c.(406-408)GTG>GTT p.V136V CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Silent_p.V136V NM_001128303 NP_001121775 Q8IV20 CM031_HUMAN hypothetical protein LOC144811 136 0 Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138) GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121) ATTTGCAAGTGACTTTTAGGG 0.328000 THSD1 55901 broad.mit.edu 37 13 52952648 52952648 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:52952648G>A uc001vgo.2 - 5 2002 c.1457C>T c.(1456-1458)ACG>ATG p.T486M THSD1_uc001vgp.2_Missense_Mutation_p.T433M|THSD1_uc010tgz.1_Missense_Mutation_p.T107M|THSD1_uc010aea.2_Translation_Start_Site NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 486 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TGGACTCCCCGTGGGCCCGTC 0.652000 PCDH17 27253 broad.mit.edu 37 13 58299057 58299057 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:58299057A>C uc001vhq.1 + 4 4001 c.3109A>C c.(3109-3111)AGC>CGC p.S1037R PCDH17_uc010aec.1_Missense_Mutation_p.S1036R|PCDH17_uc001vhr.1_Missense_Mutation_p.S126R NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1037 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CTCAGCATCAAGCAGCCCAAC 0.532000 SCEL 8796 broad.mit.edu 37 13 78130848 78130848 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:78130848A>C uc001vki.2 + 3 331 c.161A>C c.(160-162)AAA>ACA p.K54T SCEL_uc001vkj.2_Missense_Mutation_p.K54T|SCEL_uc010thx.1_Missense_Mutation_p.K54T NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 54 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GAAGAAGAAAAGTAAGCTGGT 0.453000 SLITRK1 114798 broad.mit.edu 37 13 84453960 84453960 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:84453960C>T uc001vlk.2 - 1 2569 c.1683G>A c.(1681-1683)CCG>CCA p.P561P NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 561 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGAAGTTCACCGGCGTCTCAC 0.522000 PRKD1 5587 broad.mit.edu 37 14 30068245 30068245 + Silent SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr14:30068245A>G uc001wqh.2 - 15 2335 c.2154T>C c.(2152-2154)GAT>GAC p.D718D NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 718 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GAGGAAAAGGATCAGCTGAGG 0.423000 PPP2R3C 55012 broad.mit.edu 37 14 35554856 35554856 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr14:35554856C>T uc001wss.2 - 13 1656 c.1302G>A c.(1300-1302)GAG>GAA p.E434E PPP2R3C_uc001wst.2_Silent_p.E318E|PPP2R3C_uc010tpr.1_Silent_p.E318E|PPP2R3C_uc001wsu.2_RNA NM_017917 NP_060387 Q969Q6 P2R3C_HUMAN serine/threonine-protein phosphatase 2A 434 centrosome|nucleus calcium ion binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) CCTCTCTGTTCTCGTAAGTCC 0.383000 LRFN5 145581 broad.mit.edu 37 14 42356892 42356892 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr14:42356892T>G uc001wvm.2 + 3 2262 c.1064T>G c.(1063-1065)TTT>TGT p.F355C LRFN5_uc010ana.2_Missense_Mutation_p.F355C NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 355 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) ACAGGTGCTTTTACCTGCATT 0.388000 HNSCC(30;0.082) C14orf106 55320 broad.mit.edu 37 14 45716199 45716199 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr14:45716199G>A uc001wwf.2 - 2 750 c.291C>T c.(289-291)CCC>CCT p.P97P C14orf106_uc010anh.2_RNA NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 97 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 CATCCTTGTTGGGCTTTATAG 0.313000 ABHD12B 145447 broad.mit.edu 37 14 51368592 51368592 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr14:51368592C>G uc001wys.2 + 10 841 c.826C>G c.(826-828)CTG>GTG p.L276V ABHD12B_uc001wyq.2_Missense_Mutation_p.L169V|ABHD12B_uc001wyr.2_Missense_Mutation_p.L199V|ABHD12B_uc010any.2_RNA NM_181533 NP_853511 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B isoform b 276 hydrolase activity breast(1) 1 all_epithelial(31;0.00481)|Breast(41;0.148) TATGGATGCCCTGAGAAAAGA 0.308000 RHOJ 57381 broad.mit.edu 37 14 63735880 63735880 + Silent SNP G G A rs148425776 TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr14:63735880G>A uc001xgb.1 + 2 674 c.231G>A c.(229-231)GCG>GCA p.A77A NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 77 GTP (By similarity). actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) ATGACACCGCGGGACAGGTAC 0.398000 SIPA1L1 26037 broad.mit.edu 37 14 72138230 72138230 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr14:72138230T>C uc001xms.2 + 8 2998 c.2650T>C c.(2650-2652)TTC>CTC p.F884L SIPA1L1_uc001xmt.2_Missense_Mutation_p.F884L|SIPA1L1_uc001xmu.2_Missense_Mutation_p.F884L|SIPA1L1_uc001xmv.2_Missense_Mutation_p.F884L|SIPA1L1_uc010ttm.1_Missense_Mutation_p.F359L NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 884 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CTCCAATGAGTTCATTGTGCT 0.488000 TJP1 7082 broad.mit.edu 37 15 30010566 30010567 + Missense_Mutation DNP CT CT GG TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr15:30010566_30010567CT>GG uc001zcr.2 - 21 4254_4255 c.3779_3780AG>CC c.(3778-3780)AAG>ACC p.K1260T TJP1_uc010azl.2_Missense_Mutation_p.K1248T|TJP1_uc001zcq.2_Missense_Mutation_p.K1184T|TJP1_uc001zcs.2_Missense_Mutation_p.K1180T NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1260 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CAGACTGTGGCTTCATTGCTGG 0.441000 RYR3 6263 broad.mit.edu 37 15 34134178 34134178 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr15:34134178C>T uc001zhi.2 + 91 13221 c.13151C>T c.(13150-13152)CCG>CTG p.P4384L RYR3_uc010bar.2_Missense_Mutation_p.P4379L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4384 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTTGAGAAGCCGGAAGCTTTC 0.473000 GPR176 11245 broad.mit.edu 37 15 40094423 40094423 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr15:40094423T>C uc001zkj.1 - 3 1324 c.458A>G c.(457-459)AAA>AGA p.K153R GPR176_uc010uck.1_Missense_Mutation_p.K93R NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 153 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) ATCAGATATTTTCCTCTCCAG 0.448000 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SEMA6D 80031 broad.mit.edu 37 15 48052517 48052517 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr15:48052517G>A uc010bek.2 + 3 486 c.126G>A c.(124-126)CCG>CCA p.P42P SEMA6D_uc001zvw.2_Silent_p.P42P|SEMA6D_uc001zvx.1_Silent_p.P42P|SEMA6D_uc001zvy.2_Silent_p.P42P|SEMA6D_uc001zvz.2_Silent_p.P42P|SEMA6D_uc001zwa.2_Silent_p.P42P|SEMA6D_uc001zwb.2_Silent_p.P42P|SEMA6D_uc001zwc.2_Silent_p.P42P NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 42 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GGCAATATCCGGTTTTTAGAG 0.413000 USP8 9101 broad.mit.edu 37 15 50791187 50791187 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr15:50791187G>C uc001zym.3 + 21 3759 c.3259G>C c.(3259-3261)GAA>CAA p.E1087Q USP8_uc001zyl.3_Missense_Mutation_p.E1087Q|USP8_uc001zyn.3_Missense_Mutation_p.E1087Q|USP8_uc010ufh.1_Missense_Mutation_p.E981Q|USP8_uc001zyp.3_Missense_Mutation_p.E254Q NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1087 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TGATGATCATGAAGTTTCTGA 0.423000 SGK269 79834 broad.mit.edu 37 15 77407493 77407493 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr15:77407493C>G uc002bcm.2 - 6 4554 c.4246G>C c.(4246-4248)GAT>CAT p.D1416H NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1416 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TCCATGTCATCCTCATCCTTT 0.488000 RHBDF1 64285 broad.mit.edu 37 16 108437 108437 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr16:108437C>T uc002cfl.3 - 21 2618 c.2470G>A c.(2470-2472)GTC>ATC p.V824I NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 824 Helical; (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) ACAGGATAGACGTAGAAGAGG 0.557000 BTBD12 84464 broad.mit.edu 37 16 3639115 3639115 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr16:3639115C>T uc002cvp.2 - 12 5151 c.4524G>A c.(4522-4524)TCG>TCA p.S1508S NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1508 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 CCCACAGAGCCGAATTCAGAA 0.632000 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia DNAH3 55567 broad.mit.edu 37 16 21008739 21008739 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr16:21008739G>A uc010vbe.1 - 44 6467 c.6467C>T c.(6466-6468)CCC>CTC p.P2156L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2156 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GAGCTCGATGGGTGGCTGGGC 0.522000 SETD1A 9739 broad.mit.edu 37 16 30980994 30980994 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr16:30980994G>C uc002ead.1 + 12 3686 c.3000G>C c.(2998-3000)GAG>GAC p.E1000D NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1000 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CAAAGAAGGAGACAGAGGTGT 0.507000 VKORC1 79001 broad.mit.edu 37 16 31104640 31104640 + Silent SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr16:31104640T>A uc002eas.2 - 2 502 c.276A>T c.(274-276)CTA>CTT p.L92L PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_Intron|VKORC1_uc002eau.2_Silent_p.L92L NM_024006 NP_076869 Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 92 Cytoplasmic (Potential). peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity 0 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) CACCTAACAATAGCTGTAGTG 0.343000 TMEM102 284114 broad.mit.edu 37 17 7339728 7339728 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:7339728G>T uc002ggx.1 + 3 703 c.430G>T c.(430-432)GTC>TTC p.V144F FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.V144F NM_178518 NP_848613 Q8N9M5 TM102_HUMAN transmembrane protein 102 144 Extracellular (Potential). regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding 0 Prostate(122;0.173) TTACGCACAGGTCTGCCTCCC 0.592000 SHBG 6462 broad.mit.edu 37 17 7535245 7535245 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:7535245G>C uc002gie.2 + 6 802 c.764G>C c.(763-765)GGA>GCA p.G255A SHBG_uc010cmo.2_Missense_Mutation_p.G143A|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Missense_Mutation_p.G143A|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.G197A|SHBG_uc010cmu.2_Missense_Mutation_p.G197A|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Missense_Mutation_p.G143A|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.G197A|SHBG_uc002gid.3_Missense_Mutation_p.G197A|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.G237A|SHBG_uc010vuf.1_Missense_Mutation_p.G255A|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Missense_Mutation_p.G201A NM_001040 NP_001031 P04278 SHBG_HUMAN sex hormone-binding globulin isoform 1 255 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) 0 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) TTGGACCTGGGACTCAAGCAG 0.572000 TP53 7157 broad.mit.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:7576897G>A uc002gim.2 - 9 1143 c.949C>T c.(949-951)CAG>TAG p.Q317* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q317*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q185*|TP53_uc010cng.1_Nonsense_Mutation_p.Q185*|TP53_uc002gii.1_Nonsense_Mutation_p.Q185*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q317*|TP53_uc010cni.1_Nonsense_Mutation_p.Q317*|TP53_uc002gij.2_Nonsense_Mutation_p.Q317* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 317 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(19)|p.0?(7)|p.Q317K(3)|p.Q317R(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.Q317fs*28(1)|p.Q317fs*45(1)|p.Q317fs*19(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) TTCTTTGGCTGGGGAGAGGAG 0.473000 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) C17orf63 55731 broad.mit.edu 37 17 27085478 27085478 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:27085478C>A uc002hct.1 - 3 1766 c.1499G>T c.(1498-1500)GGG>GTG p.G500V C17orf63_uc010wax.1_Missense_Mutation_p.G500V|C17orf63_uc010way.1_Missense_Mutation_p.G500V|C17orf63_uc002hcw.2_Missense_Mutation_p.G372V NM_018182 NP_060652 Q8WU58 CQ063_HUMAN hypothetical protein LOC55731 500 ovary(1) 1 all_epithelial(6;5.06e-20)|Lung NSC(42;0.01) Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104) TGGACCGCCCCCGGTCCCTGC 0.637000 CCL8 6355 broad.mit.edu 37 17 32646540 32646540 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:32646540T>G uc002hib.2 + 1 475 c.20T>G c.(19-21)CTT>CGT p.L7R NM_005623 NP_005614 P80075 CCL8_HUMAN small inducible cytokine A8 precursor 7 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity 0 Ovarian(249;0.0443)|Breast(31;0.151) TCTGCAGCGCTTCTGTGCCTG 0.532000 CWC25 54883 broad.mit.edu 37 17 36963083 36963083 + Silent SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:36963083T>A uc002hqu.2 - 7 990 c.837A>T c.(835-837)GCA>GCT p.A279A CWC25_uc010wdv.1_Silent_p.A216A|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN coiled-coil domain containing 49 279 0 CCCGGGACCCTGCTTCCCTGG 0.567000 KIF2B 84643 broad.mit.edu 37 17 51901928 51901928 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:51901928T>A uc002iua.2 + 1 1690 c.1534T>A c.(1534-1536)TCC>ACC p.S512T uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 512 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGGCCAGAACTCCTCCACTTG 0.448000 TEX14 56155 broad.mit.edu 37 17 56699054 56699054 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:56699054G>A uc010dcz.1 - 5 629 c.511C>T c.(511-513)CGG>TGG p.R171W TEX14_uc002iwr.1_Missense_Mutation_p.R171W|TEX14_uc002iws.1_Missense_Mutation_p.R171W|TEX14_uc010dda.1_5'UTR NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 171 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) TAGACAAGCCGCTGCGGGGAG 0.587000 CACNG1 786 broad.mit.edu 37 17 65040761 65040761 + Translation_Start_Site SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:65040761C>T uc002jfu.2 + 1 56 c.-15C>T c.(-17--13)CACGC>CATGC NM_000727 NP_000718 Q06432 CCG1_HUMAN voltage-dependent calcium channel gamma-1 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) AGGGCACCCACGCCTCGGCGA 0.647000 DNAH17 8632 broad.mit.edu 37 17 76437168 76437168 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr17:76437168G>A uc010dhp.1 - 17 2864 c.2642C>T c.(2641-2643)CCG>CTG p.P881L DNAH17_uc002jvq.2_Missense_Mutation_p.P166L|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTCAACCCCCGGGGAGAGGAT 0.473000 C18orf34 374864 broad.mit.edu 37 18 30672872 30672872 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr18:30672872T>A uc002kxn.2 - 20 2383 c.2241A>T c.(2239-2241)AAA>AAT p.K747N C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Missense_Mutation_p.K747N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K709N|C18orf34_uc002kxp.2_Missense_Mutation_p.K747N NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 747 ovary(1) 1 CAGCTATTATTTTCTAGAAGG 0.234000 C18orf34 374864 broad.mit.edu 37 18 30846889 30846889 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr18:30846889G>T uc002kxn.2 - 13 1542 c.1400C>A c.(1399-1401)ACC>AAC p.T467N C18orf34_uc010dme.1_5'UTR|C18orf34_uc010xbr.1_Missense_Mutation_p.T467N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.T467N|C18orf34_uc002kxp.2_Missense_Mutation_p.T467N NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 467 Potential. ovary(1) 1 CCTTTCATTGGTTTTTACTGT 0.294000 PTPRS 5802 broad.mit.edu 37 19 5265160 5265160 + Silent SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:5265160A>G uc002mbv.2 - 5 661 c.427T>C c.(427-429)TTG>CTG p.L143L PTPRS_uc002mbu.1_Silent_p.L143L|PTPRS_uc010xin.1_Silent_p.L143L|PTPRS_uc002mbw.2_Silent_p.L143L|PTPRS_uc002mbx.2_Silent_p.L143L|PTPRS_uc002mby.2_Silent_p.L143L NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 143 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) ACCACCTTCAACTGTGGGCCC 0.602000 ZNRF4 148066 broad.mit.edu 37 19 5456567 5456567 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:5456567G>A uc002mca.3 + 1 1142 c.1065G>A c.(1063-1065)GTG>GTA p.V355V NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 355 Cytoplasmic (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) AACAGTCGGTGGCCGCCACAG 0.637000 STXBP2 6813 broad.mit.edu 37 19 7707378 7707378 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:7707378C>A uc002mha.3 + 10 903 c.858C>A c.(856-858)GAC>GAA p.D286E STXBP2_uc002mhb.3_Missense_Mutation_p.D283E|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.D297E|STXBP2_uc010dvk.2_Missense_Mutation_p.D254E|STXBP2_uc002mhc.3_Missense_Mutation_p.D54E|STXBP2_uc002mhe.1_5'Flank NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 286 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 AGGACGATGACTTGTGGGTGG 0.667000 SLC1A6 6511 broad.mit.edu 37 19 15072963 15072963 + Silent SNP G G A rs115350519 byFrequency TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:15072963G>A uc002naa.1 - 5 794 c.786C>T c.(784-786)TCC>TCT p.S262S SLC1A6_uc010dzu.1_Silent_p.S262S|SLC1A6_uc010xod.1_Silent_p.S198S|SLC1A6_uc002nab.2_Silent_p.S262S|SLC1A6_uc002nac.2_Silent_p.S262S NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 262 Extracellular (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) TGCCATTGGCGGAGCCAGGCA 0.582000 OR10H2 26538 broad.mit.edu 37 19 15839756 15839756 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:15839756C>T uc002nbm.2 + 1 923 c.903C>T c.(901-903)GCC>GCT p.A301A NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TGAAGGTTGCCATGAAGAGGA 0.517000 ZNF493 284443 broad.mit.edu 37 19 21607715 21607715 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:21607715C>T uc002npx.2 + 2 2150 c.1870C>T c.(1870-1872)CGG>TGG p.R624W ZNF493_uc002npw.2_Missense_Mutation_p.R752W|ZNF493_uc002npy.2_Missense_Mutation_p.R624W NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 624 C2H2-type 22. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGCTTTTAGGCGGTCTTCACA 0.373000 STRN4 29888 broad.mit.edu 37 19 47234126 47234126 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:47234126C>T uc002pfl.2 - 6 775 c.742G>A c.(742-744)GCG>ACG p.A248T STRN4_uc002pfm.2_Missense_Mutation_p.A248T|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 248 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TTGCCTGCCGCGTTCCTGCCA 0.612000 SYT3 84258 broad.mit.edu 37 19 51132647 51132647 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:51132647G>A uc002pst.2 - 4 1819 c.1185C>T c.(1183-1185)CAC>CAT p.H395H SYT3_uc002psv.2_Silent_p.H395H|SYT3_uc010ycd.1_Silent_p.H395H NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 395 C2 1.|Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CGATGAGGTCGTGCCGCGAGA 0.637000 CLEC11A 6320 broad.mit.edu 37 19 51228685 51228685 + Nonsense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:51228685C>A uc002psy.2 + 4 1111 c.933C>A c.(931-933)TGC>TGA p.C311* NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 311 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) ACCACGACTGCCAGCGGCGTC 0.711000 ZIM2 23619 broad.mit.edu 37 19 57286430 57286430 + Silent SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:57286430T>G uc002qnr.2 - 11 1592 c.1210A>C c.(1210-1212)AGA>CGA p.R404R uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.R200R|ZIM2_uc010ygr.1_Silent_p.R200R|ZIM2_uc002qnq.2_Silent_p.R404R|ZIM2_uc010etp.2_Silent_p.R404R|ZIM2_uc010ygs.1_Silent_p.R404R NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CTGTGAATTCTTACACGTTCA 0.468000 VN1R1 57191 broad.mit.edu 37 19 57967836 57967836 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:57967836T>G uc002qos.1 - 1 19 c.19A>C c.(19-21)AAA>CAA p.K7Q ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 7 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) GACAGAAGTTTTAATGTGTCT 0.373000 ZSCAN4 201516 broad.mit.edu 37 19 58190001 58190001 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:58190001G>A uc002qpu.2 + 5 1727 c.1030G>A c.(1030-1032)GAG>AAG p.E344K NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 344 C2H2-type 2. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTTTGTCCCGAGTGTCAAAA 0.423000 ZSCAN18 65982 broad.mit.edu 37 19 58601321 58601321 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr19:58601321A>C uc002qri.2 - 2 623 c.314T>G c.(313-315)GTC>GGC p.V105G ZSCAN18_uc002qrj.3_Missense_Mutation_p.V105G|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.V105G|ZSCAN18_uc010yht.1_Missense_Mutation_p.V161G|ZSCAN18_uc002qrk.1_Missense_Mutation_p.V105G|ZSCAN18_uc002qrl.2_Missense_Mutation_p.V105G NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 105 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCAGGGCCGGACCTTATCAGG 0.647000 WDR43 23160 broad.mit.edu 37 2 29137031 29137031 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:29137031T>C uc002rmo.2 + 5 735 c.703T>C c.(703-705)TAT>CAT p.Y235H NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 235 WD 5. nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TACAGGTCTTTATTTCTTATC 0.428000 TTC27 55622 broad.mit.edu 37 2 32958967 32958967 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:32958967G>T uc002rom.2 + 11 1537 c.1306G>T c.(1306-1308)GTA>TTA p.V436L TTC27_uc010ymx.1_Missense_Mutation_p.V386L|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 436 protein binding central_nervous_system(1) 1 TTGCTGTCAAGTACCACCTCA 0.353000 LTBP1 4052 broad.mit.edu 37 2 33623444 33623444 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:33623444C>T uc002ros.2 + 34 5001 c.5001C>T c.(4999-5001)TGC>TGT p.C1667C LTBP1_uc002rot.2_Silent_p.C1341C|LTBP1_uc002rou.2_Silent_p.C1340C|LTBP1_uc002rov.2_Silent_p.C1287C|LTBP1_uc010ymz.1_Silent_p.C1298C|LTBP1_uc010yna.1_Silent_p.C1245C|LTBP1_uc010ynb.1_Silent_p.C564C NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1666 EGF-like 18; calcium-binding (Potential). 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) TAAATGAATGCGATGAGTTGA 0.463000 ST6GAL2 84620 broad.mit.edu 37 2 107450508 107450508 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:107450508C>T uc002tdq.2 - 3 1157 c.1038G>A c.(1036-1038)TCG>TCA p.S346S ST6GAL2_uc002tdr.2_Silent_p.S346S|ST6GAL2_uc002tds.3_Silent_p.S346S NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 346 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GTCTTACCTGCGAATTAATGA 0.388000 CCDC138 165055 broad.mit.edu 37 2 109429148 109429148 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:109429148G>A uc002ten.1 + 8 977 c.917G>A c.(916-918)CGT>CAT p.R306H CCDC138_uc002teo.1_Missense_Mutation_p.R306H|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 306 Potential. 0 GTTCAAGCTCGTTTAGATAAT 0.318000 NCKAP5 344148 broad.mit.edu 37 2 133542769 133542769 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:133542769T>G uc002ttp.2 - 14 1989 c.1615A>C c.(1615-1617)AGT>CGT p.S539R NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 539 protein binding 0 CTGGCGCAACTTGTCAGCTTT 0.552000 XIRP2 129446 broad.mit.edu 37 2 168103323 168103323 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:168103323C>G uc002udx.2 + 8 5439 c.5421C>G c.(5419-5421)GAC>GAG p.D1807E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1632E|XIRP2_uc010fpq.2_Missense_Mutation_p.D1585E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1632 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTGAAACTGACATCATCCCTG 0.388000 MYO3B 140469 broad.mit.edu 37 2 171323173 171323173 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:171323173G>A uc002ufy.2 + 25 3109 c.2966G>A c.(2965-2967)CGC>CAC p.R989H MYO3B_uc002ufv.2_Missense_Mutation_p.R976H|MYO3B_uc010fqb.1_Missense_Mutation_p.R976H|MYO3B_uc002ufz.2_Missense_Mutation_p.R989H|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_Intron NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 989 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GTCAGCATCCGCCGCCAGGGC 0.522000 TTN 7273 broad.mit.edu 37 2 179438783 179438783 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:179438783C>T uc010zfg.1 - 275 64596 c.64372G>A c.(64372-64374)GCA>ACA p.A21458T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A15153T|TTN_uc010zfi.1_Missense_Mutation_p.A15086T|TTN_uc010zfj.1_Missense_Mutation_p.A14961T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22385 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) ATCTTTGGTGCCTCAACATCA 0.468000 TTN 7273 broad.mit.edu 37 2 179495978 179495978 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:179495978C>G uc010zfg.1 - 186 36317 c.36093G>C c.(36091-36093)GAG>GAC p.E12031D TTN_uc010zfh.1_Missense_Mutation_p.E5726D|TTN_uc010zfi.1_Missense_Mutation_p.E5659D|TTN_uc010zfj.1_Missense_Mutation_p.E5534D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12958 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) CTTCATCTTTCTCTACACCAG 0.353000 ERBB4 2066 broad.mit.edu 37 2 212426722 212426722 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:212426722A>G uc002veg.1 - 20 2491 c.2393T>C c.(2392-2394)CTT>CCT p.L798P ERBB4_uc002veh.1_Missense_Mutation_p.L798P|ERBB4_uc010zji.1_Missense_Mutation_p.L788P|ERBB4_uc010zjj.1_Missense_Mutation_p.L788P|ERBB4_uc010fut.1_Missense_Mutation_p.L798P NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 798 ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATGGGGCATAAGTTGAGTAAC 0.493000 TSP Lung(8;0.080) ABCA12 26154 broad.mit.edu 37 2 215818800 215818800 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:215818800C>T uc002vew.2 - 44 6645 c.6425G>A c.(6424-6426)CGC>CAC p.R2142H ABCA12_uc002vev.2_Missense_Mutation_p.R1824H|ABCA12_uc010zjn.1_Missense_Mutation_p.R1069H NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2142 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAGGAAAATGCGCTTGAGGGT 0.333000 CXCR2 3579 broad.mit.edu 37 2 219000083 219000083 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:219000083G>A uc002vgz.1 + 4 784 c.559G>A c.(559-561)GTC>ATC p.V187I CXCR2_uc002vha.1_Missense_Mutation_p.V187I|CXCR2_uc002vhb.1_Missense_Mutation_p.V187I NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 187 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 CCGAAGGACCGTCTACTCATC 0.527000 ALPP 250 broad.mit.edu 37 2 233246019 233246019 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:233246019C>T uc002vsq.2 + 10 1416 c.1251C>T c.(1249-1251)AAC>AAT p.N417N ALPP_uc002vsr.2_RNA NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 417 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TATACGGAAACGGTCCAGGCT 0.657000 EIF6 3692 broad.mit.edu 37 20 33868600 33868600 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr20:33868600T>C uc002xbv.1 - 3 442 c.226A>G c.(226-228)ACC>GCC p.T76A EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.T76A|EIF6_uc002xbz.1_Intron|EIF6_uc002xby.1_Intron NM_181468 NP_852133 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 76 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGGTCGGTGGTATTGTTGGGT 0.567000 UQCC 55245 broad.mit.edu 37 20 33935043 33935043 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr20:33935043C>T uc002xcd.2 - 7 564 c.497G>A c.(496-498)CGG>CAG p.R166Q UQCC_uc010zuy.1_Missense_Mutation_p.R67Q|UQCC_uc010zuz.1_Missense_Mutation_p.R11Q|UQCC_uc010zva.1_Intron|UQCC_uc002xce.2_Missense_Mutation_p.R139Q|UQCC_uc002xcg.2_Missense_Mutation_p.R32Q|UQCC_uc010gfb.2_Missense_Mutation_p.R166Q|UQCC_uc010zvb.1_Missense_Mutation_p.R98Q|UQCC_uc002xcf.2_Missense_Mutation_p.R54Q|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.R120Q|UQCC_uc010gfd.1_Missense_Mutation_p.R152Q NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform 166 cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) CTTCCCACTCCGGCCTTCCTG 0.473000 PTPRT 11122 broad.mit.edu 37 20 40790013 40790013 + Nonsense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr20:40790013G>T uc002xkg.2 - 17 2845 c.2661C>A c.(2659-2661)TAC>TAA p.Y887* PTPRT_uc010ggj.2_Nonsense_Mutation_p.Y906*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.Y90* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 887 Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCTTGAACCCGTAGCCCTGGC 0.512000 ZSWIM3 140831 broad.mit.edu 37 20 44486607 44486607 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr20:44486607G>A uc002xqd.2 + 1 346 c.143G>A c.(142-144)CGC>CAC p.R48H ACOT8_uc002xqa.1_5'Flank|ACOT8_uc010zxe.1_5'Flank|ACOT8_uc002xqc.1_5'Flank|ACOT8_uc010zxf.1_5'Flank|ZSWIM3_uc010zxg.1_5'UTR NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 48 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) ACCTCCATCCGCGAAGACATC 0.532000 SYCP2 10388 broad.mit.edu 37 20 58450395 58450395 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr20:58450395G>C uc002yaz.2 - 33 3419 c.3280C>G c.(3280-3282)CGA>GGA p.R1094G NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1094 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CAATTATCTCGTATAGCATCT 0.348000 OSBPL2 9885 broad.mit.edu 37 20 60847217 60847217 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr20:60847217G>A uc002yck.1 + 5 497 c.295G>A c.(295-297)GAG>AAG p.E99K OSBPL2_uc002ycl.1_Missense_Mutation_p.E87K|OSBPL2_uc011aah.1_Missense_Mutation_p.E7K NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 99 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CGCCTTCAACGAGCCTCTGAG 0.602000 CCT8 10694 broad.mit.edu 37 21 30433674 30433674 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr21:30433674C>T uc002ynb.2 - 13 1448 c.1349G>A c.(1348-1350)CGC>CAC p.R450H CCT8_uc002ymz.2_Missense_Mutation_p.R66H|CCT8_uc011acp.1_Missense_Mutation_p.R431H|CCT8_uc002yna.2_Missense_Mutation_p.R399H|CCT8_uc002ync.2_Missense_Mutation_p.R449H|CCT8_uc010glm.2_Missense_Mutation_p.R391H|CCT8_uc011acq.1_Missense_Mutation_p.R377H NM_006585 NP_006576 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 450 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding 0 TGCCAGTGCGCGGGGAATAGC 0.368000 GAL3ST1 9514 broad.mit.edu 37 22 30951855 30951855 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr22:30951855G>A uc003aig.1 - 4 497 c.357C>T c.(355-357)ACC>ACT p.T119T GAL3ST1_uc003aih.1_Silent_p.T119T|GAL3ST1_uc003aii.1_Silent_p.T119T|GAL3ST1_uc010gvz.1_Silent_p.T119T NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 119 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 GGGCGAAGAAGGTCGGGTAGT 0.632000 CYTH4 27128 broad.mit.edu 37 22 37688719 37688719 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr22:37688719G>A uc003arf.2 + 2 193 c.77G>A c.(76-78)CGA>CAA p.R26Q CYTH4_uc003ard.3_Missense_Mutation_p.R26Q|CYTH4_uc003are.2_Missense_Mutation_p.R26Q|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 26 Potential. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 AAGTGGCACCGAAAGCAGCTC 0.612000 SLC16A8 23539 broad.mit.edu 37 22 38474460 38474460 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr22:38474460C>T uc003auu.2 - 5 1580 c.1450G>A c.(1450-1452)GCC>ACC p.A484T NM_013356 NP_037488 O95907 MOT3_HUMAN solute carrier family 16, member 8 484 Cytoplasmic (Potential). blood coagulation|leukocyte migration|pyruvate metabolic process integral to plasma membrane|membrane fraction lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity 0 Melanoma(58;0.045) Pyruvic acid(DB00119) TCGCCCCGGGCGCTGAGCACC 0.642000 SREBF2 6721 broad.mit.edu 37 22 42276858 42276858 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr22:42276858G>A uc003bbi.2 + 10 2069 c.1900G>A c.(1900-1902)GTG>ATG p.V634M WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 634 Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 GCTACGCCTGGTGCGCTGGCT 0.662000 KIAA1644 85352 broad.mit.edu 37 22 44681488 44681488 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr22:44681488C>T uc003bet.2 - 4 552 c.419G>A c.(418-420)CGA>CAA p.R140Q NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 140 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TTTCATCCATCGTCCTTGGAT 0.637000 NUP50 10762 broad.mit.edu 37 22 45564068 45564068 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr22:45564068A>G uc003bfr.2 + 2 472 c.10A>G c.(10-12)AGA>GGA p.R4G NUP50_uc003bfs.2_5'UTR|NUP50_uc011aqn.1_5'UTR|NUP50_uc003bft.2_5'UTR NM_007172 NP_009103 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa isoform b 4 carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CATGGCCAAAAGAAATGCCGA 0.328000 MITF 4286 broad.mit.edu 37 3 70014029 70014029 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:70014029T>C uc003dnz.2 + 10 1309 c.1193T>C c.(1192-1194)CTT>CCT p.L398P MITF_uc011bgb.1_Missense_Mutation_p.L346P|MITF_uc003doa.2_Missense_Mutation_p.L397P|MITF_uc003dob.2_Missense_Mutation_p.L382P|MITF_uc003dod.2_Missense_Mutation_p.L373P|MITF_uc003doe.2_Missense_Mutation_p.L291P|MITF_uc003dof.2_Missense_Mutation_p.L297P NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 404 DNA binding regulation. melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) GCTCATGGACTTTCCCTTATT 0.363000 A melanoma Waardenburg syndrome type 2|Tietz syndrome ROBO1 6091 broad.mit.edu 37 3 78667086 78667086 + Silent SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:78667086T>C uc003dqe.2 - 27 4189 c.3981A>G c.(3979-3981)CCA>CCG p.P1327P ROBO1_uc003dqb.2_Silent_p.P1288P|ROBO1_uc003dqc.2_Silent_p.P1227P|ROBO1_uc003dqd.2_Silent_p.P1282P|ROBO1_uc010hoh.2_Silent_p.P519P|ROBO1_uc011bgl.1_Silent_p.P899P NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1327 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CTTCCTCTTCTGGCGCATCCG 0.557000 EPHA3 2042 broad.mit.edu 37 3 89259476 89259476 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:89259476A>C uc003dqy.2 + 3 845 c.620A>C c.(619-621)AAG>ACG p.K207T EPHA3_uc003dqx.1_Missense_Mutation_p.K207T|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 207 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTTACAGTGAAGAATCTGGCT 0.453000 TSP Lung(6;0.00050) EPHA3 2042 broad.mit.edu 37 3 89468391 89468391 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:89468391T>G uc003dqy.2 + 11 2150 c.1925T>G c.(1924-1926)CTT>CGT p.L642R EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 642 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CGCTTAAAACTTCCTTCAAAA 0.393000 TSP Lung(6;0.00050) CCDC52 152185 broad.mit.edu 37 3 113187981 113187981 + Missense_Mutation SNP G G A rs148983792 byFrequency TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:113187981G>A uc003eag.3 - 8 1007 c.716C>T c.(715-717)ACG>ATG p.T239M CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.T135M NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 239 cell division|mitosis centriole|spindle protein binding 0 AGATGATGGCGTTCCTGGAGG 0.398000 GOLGB1 2804 broad.mit.edu 37 3 121448164 121448164 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:121448164G>C uc003eei.3 - 4 399 c.273C>G c.(271-273)AAC>AAG p.N91K GOLGB1_uc010hrc.2_Missense_Mutation_p.N91K|GOLGB1_uc003eej.3_Missense_Mutation_p.N52K|GOLGB1_uc011bjm.1_Missense_Mutation_p.N52K|GOLGB1_uc010hrd.1_Missense_Mutation_p.N91K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 91 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTTTAATTTTGTTATCAGCAG 0.323000 MSL2 55167 broad.mit.edu 37 3 135870294 135870294 + Nonsense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:135870294G>A uc003eqx.1 - 2 2162 c.1429C>T c.(1429-1431)CGA>TGA p.R477* MSL2_uc011bmb.1_Nonsense_Mutation_p.R403* NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 477 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 CGTTGGCCTCGGCATGTAAGA 0.478000 SR140 23350 broad.mit.edu 37 3 142756989 142756989 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:142756989T>G uc003evh.1 + 22 2360 c.2261T>G c.(2260-2262)TTT>TGT p.F754C SR140_uc003evi.1_Missense_Mutation_p.F345C|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.F753C|SR140_uc003evl.1_Missense_Mutation_p.F321C NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 754 RNA processing nucleus nucleotide binding|RNA binding 0 GAGCCTATATTTAAAGTTGCC 0.348000 P2RY14 9934 broad.mit.edu 37 3 150931143 150931143 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:150931143T>C uc003eyr.1 - 3 1440 c.962A>G c.(961-963)GAC>GGC p.D321G MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.D321G NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 321 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTGGAAATGTCTAGGTCATT 0.378000 IGSF10 285313 broad.mit.edu 37 3 151156235 151156235 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:151156235G>A uc011bod.1 - 6 6114 c.6114C>T c.(6112-6114)GCC>GCT p.A2038A IGSF10_uc011bob.1_Silent_p.A65A|IGSF10_uc011boc.1_Silent_p.A17A NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2038 Ig-like C2-type 7. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTCAATTTTGGCAGGTTTCA 0.433000 FNDC3B 64778 broad.mit.edu 37 3 172061989 172061989 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:172061989G>A uc003fhy.2 + 19 2363 c.2191G>A c.(2191-2193)GGC>AGC p.G731S FNDC3B_uc003fhz.3_Missense_Mutation_p.G731S NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 731 Fibronectin type-III 5. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GTGCACCGTCGGCAACCTGCT 0.562000 KCNMB3 27094 broad.mit.edu 37 3 178984528 178984528 + Translation_Start_Site SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:178984528T>A uc003fjp.1 - 1 311 c.-29A>T c.(-31--27)AAAGG>AATGG KCNMB3_uc011bqc.1_Translation_Start_Site NM_171828 NP_741979 Q9NPA1 KCMB3_HUMAN calcium-activated potassium channel beta 3 detection of calcium ion|platelet activation|regulation of action potential in neuron voltage-gated potassium channel complex calcium-activated potassium channel activity|potassium channel regulator activity 0 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) AATGGCTCCCTTTCACCTGAG 0.627000 ECE2 9718 broad.mit.edu 37 3 184008402 184008402 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:184008402C>T uc003fni.3 + 15 2105 c.2067C>T c.(2065-2067)ATC>ATT p.I689I ECE2_uc011brh.1_Silent_p.I542I|ECE2_uc003fnl.3_Silent_p.I617I|ECE2_uc003fnm.3_Silent_p.I571I|ECE2_uc003fnk.3_Silent_p.I542I|ECE2_uc011bri.1_Silent_p.I604I|ECE2_uc010hxv.2_Silent_p.I333I NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 689 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGAATGAGATCGTCTTCCCCG 0.507000 IGF2BP2 10644 broad.mit.edu 37 3 185369933 185369933 + Silent SNP G G A rs147590133 byFrequency TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:185369933G>A uc003fpo.2 - 13 1489 c.1410C>T c.(1408-1410)GAC>GAT p.D470D IGF2BP2_uc010hyi.2_Silent_p.D413D|IGF2BP2_uc010hyj.2_Silent_p.D407D|IGF2BP2_uc010hyk.2_Silent_p.D334D|IGF2BP2_uc010hyl.2_Silent_p.D364D|IGF2BP2_uc003fpp.2_Silent_p.D427D|IGF2BP2_uc003fpq.2_Silent_p.D475D NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 470 KH 3. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTTCGCTGACGTCTGGGCCTT 0.597000 CPZ 8532 broad.mit.edu 37 4 8602891 8602891 + Missense_Mutation SNP G G A rs145429481 TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:8602891G>A uc003glm.2 + 3 289 c.163G>A c.(163-165)GCC>ACC p.A55T CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.A44T|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 55 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 CAGTGATGCCGCCTACAACCA 0.642000 EPHA5 2044 broad.mit.edu 37 4 66197825 66197825 + Silent SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:66197825T>C uc003hcy.2 - 17 3067 c.2874A>G c.(2872-2874)GAA>GAG p.E958E EPHA5_uc003hcx.2_Silent_p.E890E|EPHA5_uc003hcz.2_Silent_p.E936E|EPHA5_uc011cah.1_Silent_p.E959E|EPHA5_uc011cai.1_Silent_p.E937E|EPHA5_uc003hda.2_Silent_p.E959E NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 958 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GTGGGCTATGTTCTGCCAATA 0.328000 TSP Lung(17;0.13) EPHA5 2044 broad.mit.edu 37 4 66231771 66231771 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:66231771T>G uc003hcy.2 - 11 2122 c.1929A>C c.(1927-1929)AAA>AAC p.K643N EPHA5_uc003hcx.2_Missense_Mutation_p.K575N|EPHA5_uc003hcz.2_Missense_Mutation_p.K621N|EPHA5_uc011cah.1_Missense_Mutation_p.K644N|EPHA5_uc011cai.1_Missense_Mutation_p.K622N|EPHA5_uc003hda.2_Missense_Mutation_p.K644N NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 643 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CTCCTGGCAGTTTAACTGTAA 0.348000 TSP Lung(17;0.13) GC 2638 broad.mit.edu 37 4 72620134 72620134 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:72620134T>G uc003hge.2 - 10 1409 c.1256A>C c.(1255-1257)AAG>ACG p.K419T GC_uc003hgd.2_Missense_Mutation_p.K297T|GC_uc010iie.2_Missense_Mutation_p.K419T|GC_uc010iif.2_Missense_Mutation_p.K438T NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 419 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTACTTTTTCTTGTACTCAGT 0.328000 PDHA2 5161 broad.mit.edu 37 4 96761480 96761480 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:96761480T>G uc003htr.3 + 1 242 c.179T>G c.(178-180)CTT>CGT p.L60R NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 60 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCGGAGGGGCTTAAATACTAC 0.458000 FAT4 79633 broad.mit.edu 37 4 126240751 126240751 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:126240751T>G uc003ifj.3 + 1 3185 c.3185T>G c.(3184-3186)CTT>CGT p.L1062R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1062 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GACCGTGAACTTCAAGACAGA 0.383000 FAT4 79633 broad.mit.edu 37 4 126371122 126371122 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:126371122T>G uc003ifj.3 + 9 8951 c.8951T>G c.(8950-8952)CTT>CGT p.L2984R FAT4_uc011cgp.1_Missense_Mutation_p.L1282R|FAT4_uc003ifi.1_Missense_Mutation_p.L462R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2984 Extracellular (Potential).|Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCTCAATTTCTTAAAAGTAAA 0.338000 HSPA4L 22824 broad.mit.edu 37 4 128726846 128726846 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:128726846C>T uc003ifm.2 + 10 1395 c.1142C>T c.(1141-1143)GCG>GTG p.A381V HSPA4L_uc010iny.1_Missense_Mutation_p.A340V|HSPA4L_uc011cgr.1_Missense_Mutation_p.A348V NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 381 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TTTCAGTGTGCGATTCTCTCA 0.353000 PCDH18 54510 broad.mit.edu 37 4 138452730 138452730 + Silent SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:138452730G>C uc003ihe.3 - 1 900 c.513C>G c.(511-513)CTC>CTG p.L171L PCDH18_uc003ihf.3_Silent_p.L164L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 171 Extracellular (Potential).|Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) AGTATGTGTGGAGGGAATTTT 0.463000 FGA 2243 broad.mit.edu 37 4 155508714 155508714 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:155508714G>T uc003iod.1 - 4 518 c.460C>A c.(460-462)CTT>ATT p.L154I FGA_uc003ioe.1_Missense_Mutation_p.L154I|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 154 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTCTGCAGAAGCTGGATATGC 0.438000 FSTL5 56884 broad.mit.edu 37 4 162680664 162680664 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:162680664A>G uc003iqh.2 - 6 1062 c.626T>C c.(625-627)CTT>CCT p.L209P FSTL5_uc003iqi.2_Missense_Mutation_p.L208P|FSTL5_uc010iqv.2_Missense_Mutation_p.L208P NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 209 EF-hand 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATCCTTGCCAAGTTCTTCCTG 0.269000 ODZ3 55714 broad.mit.edu 37 4 183714348 183714348 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:183714348T>C uc003ivd.1 + 25 6560 c.6523T>C c.(6523-6525)TAT>CAT p.Y2175H NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2175 Extracellular (Potential).|YD 20. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ACCCCTTCGCTATGACCTGCG 0.453000 TRIML1 339976 broad.mit.edu 37 4 189068074 189068074 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr4:189068074G>A uc003izm.1 + 6 1070 c.955G>A c.(955-957)GAC>AAC p.D319N TRIML1_uc003izn.1_Missense_Mutation_p.D43N NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 319 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCAGCTACCCGACAACCCGGA 0.542000 AGXT2 64902 broad.mit.edu 37 5 35033594 35033594 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr5:35033594C>T uc003jjf.2 - 6 725 c.646G>A c.(646-648)GAA>AAA p.E216K AGXT2_uc011com.1_Missense_Mutation_p.E216K|AGXT2_uc011con.1_Missense_Mutation_p.E124K NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 216 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CCAGGGAGTTCCATCTTGTAG 0.473000 HCN1 348980 broad.mit.edu 37 5 45645499 45645499 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr5:45645499T>A uc003jok.2 - 2 662 c.637A>T c.(637-639)ATC>TTC p.I213F NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 213 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTCATCTTGATCACTTTGGGG 0.378000 PCDHB10 56126 broad.mit.edu 37 5 140572542 140572542 + Silent SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr5:140572542C>G uc003lix.2 + 1 591 c.417C>G c.(415-417)GTC>GTG p.V139V NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 139 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGAAACAGTCTTAAAAATAT 0.408000 PCDHGA8 9708 broad.mit.edu 37 5 140773068 140773068 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr5:140773068G>A uc003lkd.1 + 1 1586 c.688G>A c.(688-690)GTG>ATG p.V230M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V230M NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 230 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCATCCACGTGACAGTGTT 0.607000 GABRA1 2554 broad.mit.edu 37 5 161322857 161322857 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr5:161322857A>G uc010jiw.2 + 10 1510 c.1042A>G c.(1042-1044)AGT>GGT p.S348G GABRA1_uc010jix.2_Missense_Mutation_p.S348G|GABRA1_uc010jiy.2_Missense_Mutation_p.S348G|GABRA1_uc003lyx.3_Missense_Mutation_p.S348G|GABRA1_uc010jiz.2_Missense_Mutation_p.S348G|GABRA1_uc010jja.2_Missense_Mutation_p.S348G|GABRA1_uc010jjb.2_Missense_Mutation_p.S348G NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 348 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GGATGGCAAAAGTGTGGTTCC 0.383000 MUC21 394263 broad.mit.edu 37 6 30955932 30955932 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:30955932G>A uc003nsh.2 + 3 1913 c.1662G>A c.(1660-1662)TCG>TCA p.S554S MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 554 Cytoplasmic (Potential).|Cytoplasmic tail. integral to membrane|plasma membrane ovary(1)|skin(1) 2 CAGTATCCTCGATAGCCATGG 0.617000 TNXB 7148 broad.mit.edu 37 6 32015679 32015679 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:32015679C>T uc003nzl.2 - 30 10352 c.10150G>A c.(10150-10152)GTG>ATG p.V3384M TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3431 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TACTGGACCACGAAGGAGTCG 0.632000 BRD2 6046 broad.mit.edu 37 6 32945673 32945673 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:32945673C>G uc003ocn.3 + 9 3170 c.1469C>G c.(1468-1470)TCC>TGC p.S490C BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.S490C|BRD2_uc003ocp.3_Missense_Mutation_p.S370C|BRD2_uc010juh.2_Missense_Mutation_p.S490C NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 490 Glu/Ser-rich. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AGTGAGAGCTCCTCTgaggaa 0.408000 SCUBE3 222663 broad.mit.edu 37 6 35199583 35199583 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:35199583G>A uc003okf.1 + 4 422 c.416G>A c.(415-417)CGG>CAG p.R139Q SCUBE3_uc003okg.1_Missense_Mutation_p.R139Q|SCUBE3_uc003okh.1_Missense_Mutation_p.R10Q NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 139 EGF-like 3; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 TGCCACTGCCGGGAAGGCTTC 0.607000 NCR2 9436 broad.mit.edu 37 6 41309551 41309551 + Silent SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:41309551C>A uc003oqh.2 + 3 501 c.414C>A c.(412-414)ACC>ACA p.T138T NCR2_uc003oqi.2_Silent_p.T138T|NCR2_uc003oqj.2_Silent_p.T138T NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 138 Extracellular (Potential). cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) CCACACAGACCTCCTGGACTC 0.622000 RIMS1 22999 broad.mit.edu 37 6 72678732 72678732 + Silent SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:72678732A>C uc003pga.2 + 2 288 c.211A>C c.(211-213)AGA>CGA p.R71R NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 71 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CAAAACACCAAGAAATGCTGA 0.453000 KCNQ5 56479 broad.mit.edu 37 6 73751677 73751677 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:73751677G>A uc003pgk.2 + 3 855 c.508G>A c.(508-510)GTC>ATC p.V170I KCNQ5_uc003pgj.3_Missense_Mutation_p.V170I|KCNQ5_uc011dyh.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyi.1_Missense_Mutation_p.V170I|KCNQ5_uc010kat.2_Missense_Mutation_p.V170I|KCNQ5_uc011dyj.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyk.1_Intron NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 170 Helical; Name=Segment S2; (Potential). protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GATGATTGTCGTCTTTGGTTT 0.423000 EEF1A1 1915 broad.mit.edu 37 6 74229182 74229182 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:74229182C>G uc003phi.2 - 2 239 c.202G>C c.(202-204)GAA>CAA p.E68Q EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phf.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phg.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phk.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phl.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 68 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 ATACCACGTTCACGCTCAGCT 0.418000 OREG0003890 type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay TBX18 9096 broad.mit.edu 37 6 85470009 85470009 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:85470009G>C uc003pkl.1 - 3 563 c.563C>G c.(562-564)GCC>GGC p.A188G TBX18_uc010kbq.1_Missense_Mutation_p.A30G NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 188 T-box. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AATATCCATGGCAATGTAATA 0.398000 ASCC3 10973 broad.mit.edu 37 6 101246604 101246604 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr6:101246604G>C uc003pqk.2 - 8 1709 c.1380C>G c.(1378-1380)ATC>ATG p.I460M ASCC3_uc011eai.1_Missense_Mutation_p.I362M|ASCC3_uc003pql.2_Missense_Mutation_p.I460M NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 460 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) CTAAGTCTTGGATATAAACTG 0.368000 TXNDC3 51314 broad.mit.edu 37 7 37907401 37907401 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:37907401C>A uc003tfn.2 + 11 1091 c.719C>A c.(718-720)ACC>AAC p.T240N NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 240 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TCTGAAGAAACCGAACCACAG 0.438000 Kartagener_syndrome PCLO 27445 broad.mit.edu 37 7 82585562 82585562 + Silent SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:82585562A>C uc003uhx.2 - 5 4996 c.4707T>G c.(4705-4707)GCT>GCG p.A1569A PCLO_uc003uhv.2_Silent_p.A1569A NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1500 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAGAACCTGAAGCATCTTCAT 0.418000 PCLO 27445 broad.mit.edu 37 7 82586037 82586037 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:82586037T>G uc003uhx.2 - 5 4521 c.4232A>C c.(4231-4233)AAG>ACG p.K1411T PCLO_uc003uhv.2_Missense_Mutation_p.K1411T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1342 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACTTTCTAACTTAGCCAAATC 0.403000 ZNF804B 219578 broad.mit.edu 37 7 88965033 88965033 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:88965033T>G uc011khi.1 + 4 3275 c.2737T>G c.(2737-2739)TCA>GCA p.S913A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 913 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AACCACAGAATCAAACACTGC 0.428000 HNSCC(36;0.09) COL1A2 1278 broad.mit.edu 37 7 94038701 94038701 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:94038701T>A uc003ung.1 + 17 1331 c.860T>A c.(859-861)CTT>CAT p.L287H COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 287 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GAAGTGGGTCTTCCAGGCCTC 0.493000 HNSCC(75;0.22) COPS6 10980 broad.mit.edu 37 7 99689073 99689073 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:99689073G>A uc003usu.2 + 9 804 c.773G>A c.(772-774)CGG>CAG p.R258Q NM_006833 NP_006824 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 258 Interaction with Vpr. cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GAGATCCTGCGGGAGGCCTAT 0.507000 NAPEPLD 222236 broad.mit.edu 37 7 102760348 102760348 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:102760348T>G uc003vbc.2 - 3 945 c.617A>C c.(616-618)GAG>GCG p.E206A NAPEPLD_uc003vbd.2_Missense_Mutation_p.E206A|NAPEPLD_uc011klj.1_Missense_Mutation_p.E279A|NAPEPLD_uc003vbe.2_RNA NM_198990 NP_945341 Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 206 phospholipid catabolic process membrane metal ion binding skin(1) 1 CCATCTCAACTCATTACCAAA 0.458000 GRM8 2918 broad.mit.edu 37 7 126882958 126882958 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:126882958G>A uc003vlr.2 - 1 612 c.301C>T c.(301-303)CGC>TGC p.R101C GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R101C|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 101 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TCGAGGATGCGGACACCCAGA 0.483000 HNSCC(24;0.065) MLL3 58508 broad.mit.edu 37 7 151860470 151860470 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:151860470G>A uc003wla.2 - 43 10411 c.10192C>T c.(10192-10194)CGG>TGG p.R3398W MLL3_uc003wkz.2_Missense_Mutation_p.R2459W|MLL3_uc003wky.2_Missense_Mutation_p.R907W NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3398 Potential.|Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTACGTTCCCGTTCTTGAAAA 0.468000 N medulloblastoma PTPRN2 5799 broad.mit.edu 37 7 157874063 157874063 + Silent SNP G G A rs145797552 TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:157874063G>A uc003wno.2 - 11 1771 c.1650C>T c.(1648-1650)CTC>CTT p.L550L PTPRN2_uc003wnp.2_Silent_p.L533L|PTPRN2_uc003wnq.2_Silent_p.L521L|PTPRN2_uc003wnr.2_Silent_p.L512L|PTPRN2_uc011kwa.1_Silent_p.L573L NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 550 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTGCTGGTCCGAGAACCCTGG 0.433000 DKK4 27121 broad.mit.edu 37 8 42232307 42232307 + Silent SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr8:42232307T>G uc003xpb.2 - 3 498 c.387A>C c.(385-387)CCA>CCC p.P129P NM_014420 NP_055235 Q9UBT3 DKK4_HUMAN dickkopf homolog 4 precursor 129 multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region ovary(1) 1 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024) TCTTAATACTTGGCTTCCTTT 0.448000 PXDNL 137902 broad.mit.edu 37 8 52322010 52322010 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr8:52322010G>A uc003xqu.3 - 17 2275 c.2174C>T c.(2173-2175)GCG>GTG p.A725V PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 725 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCGGTACTTCGCATGGAAACA 0.652000 FAM110B 90362 broad.mit.edu 37 8 59059176 59059176 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr8:59059176G>A uc003xtj.1 + 5 1267 c.387G>A c.(385-387)GAG>GAA p.E129E NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 129 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) ATAGCTCCGAGGGCTCTAGCT 0.632000 RIMS2 9699 broad.mit.edu 37 8 104898169 104898169 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr8:104898169T>G uc003yls.2 + 2 917 c.676T>G c.(676-678)TTG>GTG p.L226V RIMS2_uc003ylp.2_Missense_Mutation_p.L448V|RIMS2_uc003ylw.2_Missense_Mutation_p.L256V|RIMS2_uc003ylq.2_Missense_Mutation_p.L256V|RIMS2_uc003ylr.2_Missense_Mutation_p.L256V NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 479 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TAGACCAGACTTGAGGCGTAC 0.463000 HNSCC(12;0.0054) KCNV1 27012 broad.mit.edu 37 8 110980483 110980483 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr8:110980483C>G uc003ynr.3 - 3 1679 c.1337G>C c.(1336-1338)AGA>ACA p.R446T KCNV1_uc010mcw.2_Missense_Mutation_p.R446T NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 446 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TTCACGCTGTCTAACAGCTGC 0.423000 COL22A1 169044 broad.mit.edu 37 8 139626133 139626133 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr8:139626133G>A uc003yvd.2 - 56 4402 c.3955C>T c.(3955-3957)CCC>TCC p.P1319S COL22A1_uc011ljo.1_Missense_Mutation_p.P599S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1319 Pro-rich.|Gly-rich.|Collagen-like 13. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGTCCTTGGGGACCCTGTGGC 0.453000 HNSCC(7;0.00092) DENND3 22898 broad.mit.edu 37 8 142188188 142188188 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr8:142188188C>T uc003yvy.2 + 16 2767 c.2489C>T c.(2488-2490)GCG>GTG p.A830V DENND3_uc010mep.2_Missense_Mutation_p.A791V NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 830 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GTCCAGCAGGCGCTGACCAAC 0.517000 SMU1 55234 broad.mit.edu 37 9 33068845 33068845 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr9:33068845G>A uc003zsf.1 - 4 586 c.478C>T c.(478-480)CGT>TGT p.R160C SMU1_uc010mjo.1_Missense_Mutation_p.R160C|SMU1_uc010mjp.1_Missense_Mutation_p.R160C|SMU1_uc011lnu.1_5'UTR NM_018225 NP_060695 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog 160 cytoplasm|nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) GCCATGAGACGAGATGGAGGC 0.348000 PCSK5 5125 broad.mit.edu 37 9 78601082 78601082 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr9:78601082G>A uc004ajz.2 + 3 870 c.332G>A c.(331-333)CGG>CAG p.R111Q PCSK5_uc004ajy.2_Missense_Mutation_p.R111Q|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 111 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 GTAAAAAAGCGGACAAAGAGG 0.443000 NTRK2 4915 broad.mit.edu 37 9 87570233 87570233 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr9:87570233G>A uc004aoa.1 + 18 2863 c.1925G>A c.(1924-1926)GGC>GAC p.G642D NTRK2_uc004any.1_Missense_Mutation_p.G642D|NTRK2_uc004anz.1_Missense_Mutation_p.G658D NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 642 Protein kinase.|Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 ATGGCTGAGGGCAACCCGCCC 0.642000 TSP Lung(25;0.17) ACTL7B 10880 broad.mit.edu 37 9 111618016 111618016 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr9:111618016G>A uc004bdi.2 - 1 260 c.195C>T c.(193-195)TAC>TAT p.Y65Y NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 65 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 GCTCTCCCGCGTAGCCGCACT 0.632000 SVEP1 79987 broad.mit.edu 37 9 113173353 113173353 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr9:113173353C>A uc010mtz.2 - 37 6975 c.6638G>T c.(6637-6639)GGC>GTC p.G2213V SVEP1_uc010mty.2_Missense_Mutation_p.G139V NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2213 Sushi 14. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CTCCAGAAAGCCATTCTCAAC 0.458000 OR1L3 26735 broad.mit.edu 37 9 125437503 125437503 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr9:125437503T>G uc011lzb.1 + 1 95 c.95T>G c.(94-96)CTT>CGT p.L32R NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCCCTCTTTCTTATCATATAC 0.443000 ABL1 25 broad.mit.edu 37 9 133759379 133759379 + Missense_Mutation SNP G G A rs141983052 TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr9:133759379G>A uc004bzw.2 + 11 1705 c.1702G>A c.(1702-1704)GTG>ATG p.V568M ABL1_uc004bzv.2_Missense_Mutation_p.V587M NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 568 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TGAGCCTGCCGTGTCTCCATT 0.418000 T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL KAL1 3730 broad.mit.edu 37 X 8555953 8555953 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chrX:8555953T>G uc004csf.2 - 5 758 c.608A>C c.(607-609)AAG>ACG p.K203T NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 203 Fibronectin type-III 1. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 CGAGGACCACTTAACCTCCAG 0.438000 DMD 1756 broad.mit.edu 37 X 32381009 32381009 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chrX:32381009A>C uc004dda.1 - 37 5465 c.5221T>G c.(5221-5223)TTG>GTG p.L1741V DMD_uc004dcw.2_Missense_Mutation_p.L397V|DMD_uc004dcx.2_Missense_Mutation_p.L400V|DMD_uc004dcz.2_Missense_Mutation_p.L1618V|DMD_uc004dcy.1_Missense_Mutation_p.L1737V|DMD_uc004ddb.1_Missense_Mutation_p.L1733V|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1741 Spectrin 12.|Interaction with SYNM (By similarity). 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) TTTGCCATCAAGTTTGCTGCT 0.463000 DMD 1756 broad.mit.edu 37 X 32430012 32430012 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chrX:32430012A>C uc004dda.1 - 30 4334 c.4090T>G c.(4090-4092)TTG>GTG p.L1364V DMD_uc004dcw.2_Missense_Mutation_p.L20V|DMD_uc004dcx.2_Missense_Mutation_p.L23V|DMD_uc004dcz.2_Missense_Mutation_p.L1241V|DMD_uc004dcy.1_Missense_Mutation_p.L1360V|DMD_uc004ddb.1_Missense_Mutation_p.L1356V|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1364 Spectrin 9. 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) TGTTCAAGCAACTTTTGCCTC 0.393000 CXorf59 286464 broad.mit.edu 37 X 36122739 36122739 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chrX:36122739A>T uc004ddk.1 + 8 1162 c.976A>T c.(976-978)ATT>TTT p.I326F NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 326 integral to membrane central_nervous_system(1) 1 TTCTGAAAGAATTTTGCTTAG 0.338000 USP11 8237 broad.mit.edu 37 X 47104245 47104245 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chrX:47104245C>T uc004dhp.2 + 15 2137 c.2137C>T c.(2137-2139)CGC>TGC p.R713C USP11_uc004dhq.2_Missense_Mutation_p.R439C NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 713 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 AAGGCGACGACGCAAGCAGCT 0.597000 MAGEH1 28986 broad.mit.edu 37 X 55479467 55479467 + Nonstop_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chrX:55479467A>C uc004dum.2 + 1 930 c.660A>C c.(658-660)TAA>TAC p.*220Y NM_014061 NP_054780 Q9H213 MAGH1_HUMAN melanoma antigen, family H, 1 protein 220 apoptosis ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CCGCCCCTTAAGTAGATCTGA 0.502000 CYLC1 1538 broad.mit.edu 37 X 83128879 83128879 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chrX:83128879A>C uc004eei.1 + 4 1184 c.1163A>C c.(1162-1164)AAG>ACG p.K388T CYLC1_uc004eeh.1_Missense_Mutation_p.K387T NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 388 4. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AGAAATTTGAAGAAAGCTTCA 0.303000 MEX3B 84206 broad.mit.edu 37 15 82336855 82336857 + In_Frame_Del DEL TCC TCC - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr15:82336855_82336857delTCC uc002bgq.1 - 2 669_671 c.354_356delGGA c.(352-357)GAGGAT>GAT p.E118del NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 118 KH 1. protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 CATGGCCACATCCTCCTTCCTGC 0.576 TTL 150465 broad.mit.edu 37 2 113251822 113251826 + Frame_Shift_Del DEL GAATG GAATG - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr2:113251821_113251825AGAATG>A uc002thu.3 + 2 517_521 c.338_342AGAATG>A c.(337-342)cagaatfs p.Q113fs NM_153712 NP_714923 Q8NG68 TTL_HUMAN Homo sapiens tubulin tyrosine ligase (TTL), mRNA. 113 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) GCTCCAGCACAGAATGGAATTCAGC 0.444 T ETV6 ALL CP 1356 broad.mit.edu 37 3 148939541 148939547 + Frame_Shift_Del DEL ACATAAA ACATAAA - rs149864882 byFrequency TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr3:148939540_148939546TACATAAA>T uc003ewy.4 - 0 287_293 c.34_40TTTATGTA>A c.(34-42)ttatgtagtfs p.L12fs CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Frame_Shift_Del_p.L12fs NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 12 cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GCTGGGGTACTACATAAAAACAGAAAA 0.353 ABCF2 10061 broad.mit.edu 37 7 150923518 150923520 + In_Frame_Del DEL CTT CTT - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr7:150923517_150923519CCTT>C uc003wjo.1 - 1 137_139 c.26_28AAGG>G c.(25-30)aaggca>aGca p.9_10KA>S ABCF2_uc003wjp.3_In_Frame_Del_p.9_10KA>S NM_005692 NP_005683 Q9UG63 ABCF2_HUMAN Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 9 ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTTTGGCTGCCTTCTTCTTGGC 0.522 MKI67 4288 broad.mit.edu 37 10 129905112 129905113 + Frame_Shift_Ins INS - - TG rs145960091 by1000genomes TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr10:129905111_129905112C>CTG uc001lke.3 - 12 5187_5188 c.4992_4993G>CAG c.(4990-4995)acagagfs p.T1664fs MKI67_uc001lkf.3_Frame_Shift_Ins_p.T1304fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.T1239fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.T814fs NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 1664 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCTGTTGGCTCTGTGTGTGTGT 0.510 CPNE8 144402 broad.mit.edu 37 12 39268292 39268293 + Frame_Shift_Del DEL TG TG - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr12:39268291_39268292ATG>A uc001rls.1 - 1 204_205 c.120_121CAT>T c.(118-123)acatttfs p.T40fs NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN Homo sapiens copine VIII (CPNE8), mRNA. 40 C2 1. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) GATTTAGAAAATGTGTCTCTGT 0.262 USPL1 10208 broad.mit.edu 37 13 31232181 31232181 + Frame_Shift_Del DEL C C - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b g.chr13:31232180_31232180TC>T uc001utc.2 + 8 2398 c.1966_1966TC>T c.(1966-1968)tccfs p.S656fs USPL1_uc001utd.2_Frame_Shift_Del_p.S327fs|USPL1_uc001ute.1_Frame_Shift_Del_p.S327fs NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA. 656 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AAGTTTTCCATCCCAAGTTGT 0.343