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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut HCRTR1 3061 broad.mit.edu 37 1 32084987 32084987 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:32084987C>T uc009vtx.2 + 3 579 c.194C>T c.(193-195)ACG>ATG p.T65M HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Missense_Mutation_p.R39C|HCRTR1_uc001btd.2_Missense_Mutation_p.T65M|HCRTR1_uc010ogl.1_Missense_Mutation_p.T65M NM_001525 NP_001516 O43613 OX1R_HUMAN orexin receptor 1 65 Helical; Name=1; (Potential). feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane ovary(1) 1 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) GTGGGCAACACGCTGGGTAGG 0.602 NA 18 58 0 0 0.000566183 0 0 PTPRF 5792 broad.mit.edu 37 1 44071216 44071216 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:44071216G>T uc001cjr.2 + 19 3746 c.3406G>T c.(3406-3408)GTG>TTG p.V1136L PTPRF_uc001cjs.2_Missense_Mutation_p.V1127L|PTPRF_uc001cju.2_Missense_Mutation_p.V514L|PTPRF_uc009vwt.2_Missense_Mutation_p.V696L|PTPRF_uc001cjv.2_Missense_Mutation_p.V596L|PTPRF_uc001cjw.2_Missense_Mutation_p.V362L NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1136 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTACATTGTTGTGGTGCCCAT 0.637 NA 8 42 2.17888e-05 0.000287145 0.000442599 1 0 MCOLN2 255231 broad.mit.edu 37 1 85405312 85405312 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:85405312C>A uc001dkm.2 - 9 1275 c.1034G>T c.(1033-1035)GGC>GTC p.G345V MCOLN2_uc001dkn.2_Intron NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 345 Helical; (Potential). integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) GACATACCAGCCGTTGATGAA 0.423 NA 23 49 7.41877e-09 1.05299e-07 0.000229342 1 0 FLG 2312 broad.mit.edu 37 1 152277995 152277995 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:152277995C>T uc001ezu.1 - 3 9403 c.9367G>A c.(9367-9369)GGG>AGG p.G3123R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3123 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) TGGTGGTACCCCTGCCTTCCT 0.607 NA Ichthyosis 12 399 0 0 0.000958276 0 0 DUSP27 92235 broad.mit.edu 37 1 167097506 167097506 + Silent SNP A A G rs145187556 byFrequency TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:167097506A>G uc001geb.1 + 5 3138 c.3138A>G c.(3136-3138)CCA>CCG p.P1046P NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1046 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GCCGGACCCCAGAGTCCTCAG 0.577 NA 5 32 0 0 8.12818e-05 0 0 ASPM 259266 broad.mit.edu 37 1 197102670 197102670 + Silent SNP A A T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:197102670A>T uc001gtu.2 - 6 2486 c.2229T>A c.(2227-2229)CCT>CCA p.P743P ASPM_uc001gtv.2_Silent_p.P743P|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 743 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TAGGTGCTCTAGGAACACTTA 0.373 NA 4 33 0 0 0.00024832 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204433733 204433733 + Splice_Site SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:204433733C>T uc001haw.2 - 5 1514 c.1035_splice c.e5-1 p.I345_splice PIK3C2B_uc010pqv.1_Splice_Site_p.I345_splice|PIK3C2B_uc001hax.1_Splice_Site_p.I345_splice|PIK3C2B_uc009xbd.1_Splice_Site NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) AGATCGAAGGCTGTACAGGAA 0.522 NA 11 56 0 0 0.00010058 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390136 208390136 + Nonsense_Mutation SNP C C A rs144926586 TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:208390136C>A uc001hgz.2 - 2 1890 c.1132G>T c.(1132-1134)GAG>TAG p.E378* PLXNA2_uc001hha.3_Nonsense_Mutation_p.E432* NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 378 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) AGGTTGCCCTCGCCCTGGTAG 0.622 NA 7 45 3.09899e-07 4.27486e-06 0.000274275 1 0 PLXNA2 5362 broad.mit.edu 37 1 208390870 208390870 + Missense_Mutation SNP T T A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:208390870T>A uc001hgz.2 - 2 1156 c.398A>T c.(397-399)TAC>TTC p.Y133F PLXNA2_uc001hha.3_Missense_Mutation_p.Y187F NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 133 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GACCCCCTGGTAGAGGCTCCC 0.582 NA 31 104 0 0 0.000279167 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243419506 243419506 + Missense_Mutation SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:243419506G>A uc001hzw.2 + 1 187 c.31G>A c.(31-33)GAG>AAG p.E11K CEP170_uc001hzs.2_5'Flank|CEP170_uc001hzt.2_5'Flank|CEP170_uc001hzu.2_5'Flank|SDCCAG8_uc010pyk.1_5'UTR|SDCCAG8_uc010pyl.1_5'UTR NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 11 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) CTCTACCCTGGAGGAGATTCT 0.607 NA 9 58 0 0 0.000442599 0 0 OR2L13 284521 broad.mit.edu 37 1 248263055 248263055 + Nonsense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:248263055C>A uc001ids.2 + 3 715 c.378C>A c.(376-378)TGC>TGA p.C126* NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TGGCCATCTGCCACTCTCTCT 0.502 NA 25 243 3.08376e-08 4.33489e-07 0.00047179 1 0 OR2T1 26696 broad.mit.edu 37 1 248569566 248569566 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:248569566G>T uc010pzm.1 + 1 271 c.271G>T c.(271-273)GCC>TCC p.A91S NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 91 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGCACTGATGGCCAATGGGGT 0.433 NA 28 100 3.65163e-15 6.26721e-14 0.00106085 1 0 KIAA1462 57608 broad.mit.edu 37 10 30317017 30317017 + Missense_Mutation SNP C C G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr10:30317017C>G uc001iux.2 - 2 2119 c.2060G>C c.(2059-2061)AGA>ACA p.R687T KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R549T|KIAA1462_uc009xle.1_Missense_Mutation_p.R687T NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 687 ovary(4) 4 TTGCTGATCTCTGTACCGGTG 0.527 NA 14 51 0 0 0.000422831 0 0 TET1 80312 broad.mit.edu 37 10 70432756 70432756 + Missense_Mutation SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr10:70432756G>A uc001jok.3 + 8 5283 c.4778G>A c.(4777-4779)AGC>AAC p.S1593N TET1_uc009xpw.1_RNA NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1593 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TTTGGTAGAAGCCCAAGCCCC 0.368 NA 10 75 0 0 0.000978159 0 0 TNKS2 80351 broad.mit.edu 37 10 93608227 93608227 + Nonsense_Mutation SNP A A T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr10:93608227A>T uc001khp.2 + 19 2743 c.2446A>T c.(2446-2448)AGA>TGA p.R816* NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 816 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) CAATGGTGTGAGAAGCCCAGG 0.537 NA 9 80 0 0 0.000442599 0 0 HPSE2 60495 broad.mit.edu 37 10 100380391 100380391 + Silent SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr10:100380391G>A uc001kpn.1 - 8 1233 c.1173C>T c.(1171-1173)AAC>AAT p.N391N HPSE2_uc009xwc.1_Silent_p.N381N|HPSE2_uc001kpo.1_Silent_p.N323N|HPSE2_uc009xwd.1_Silent_p.N269N NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 391 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CGGATAGATTGTTTGTGCCTC 0.483 NA 8 38 0 0 0.000442599 0 0 ANO3 63982 broad.mit.edu 37 11 26463564 26463564 + Missense_Mutation SNP G G C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr11:26463564G>C uc001mqt.3 + 2 291 c.146G>C c.(145-147)AGC>ACC p.S49T ANO3_uc010rdr.1_Missense_Mutation_p.S33T NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 49 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TACTCAAAGAGCTTGAGCCAG 0.473 NA 54 185 0 0 0.000781405 0 0 LRP4 4038 broad.mit.edu 37 11 46924362 46924362 + Missense_Mutation SNP G G C rs142946526 by1000genomes TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr11:46924362G>C uc001ndn.3 - 2 317 c.171C>G c.(169-171)TGC>TGG p.C57W LRP4_uc009ylh.1_Intron NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 57 Extracellular (Potential).|LDL-receptor class A 1. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) TGTGGTCCCCGCAGTCATTGT 0.592 NA 5 48 0 0 0.000602214 0 0 OR8I2 120586 broad.mit.edu 37 11 55861302 55861302 + Missense_Mutation SNP C C G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr11:55861302C>G uc010rix.1 + 1 519 c.519C>G c.(517-519)ATC>ATG p.I173M NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) ATTCCAGCATCAATCATTTTT 0.448 NA 17 113 0 0 0.00074312 0 0 ATM 472 broad.mit.edu 37 11 108117855 108117855 + Splice_Site SNP G G C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr11:108117855G>C uc001pkb.1 + 8 1450 c.1065_splice c.e8+1 p.Q355_splice ATM_uc009yxr.1_Splice_Site_p.Q355_splice NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTGTCACCAGGTACAGTAAGT 0.338 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 6 31 0 0 8.12818e-05 0 0 CACNA1C 775 broad.mit.edu 37 12 2693732 2693732 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr12:2693732C>T uc009zdu.1 + 16 2601 c.2288C>T c.(2287-2289)ACA>ATA p.T763I CACNA1C_uc009zdv.1_Missense_Mutation_p.T760I|CACNA1C_uc001qkb.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkc.2_Missense_Mutation_p.T763I|CACNA1C_uc001qke.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkf.2_Missense_Mutation_p.T763I|CACNA1C_uc001qjz.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkd.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkg.2_Missense_Mutation_p.T763I|CACNA1C_uc009zdw.1_Missense_Mutation_p.T763I|CACNA1C_uc001qkh.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkl.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkn.2_Missense_Mutation_p.T763I|CACNA1C_uc001qko.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkp.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkr.2_Missense_Mutation_p.T763I|CACNA1C_uc001qku.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkq.2_Missense_Mutation_p.T763I|CACNA1C_uc001qks.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkt.2_Missense_Mutation_p.T763I|CACNA1C_uc001qka.1_Missense_Mutation_p.T298I|CACNA1C_uc001qki.1_Missense_Mutation_p.T499I|CACNA1C_uc001qkj.1_Missense_Mutation_p.T499I|CACNA1C_uc001qkk.1_Missense_Mutation_p.T499I|CACNA1C_uc001qkm.1_Missense_Mutation_p.T499I|CACNA1C_uc001qkw.2_Missense_Mutation_p.T52I NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 763 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAGAGCCTCACATCTGCCCaa 0.438 NA 13 69 0 0 0.000151284 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21358836 21358836 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr12:21358836C>A uc001req.3 + 11 1470 c.1366C>A c.(1366-1368)CTT>ATT p.L456I NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 456 Extracellular (Potential).|Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) AGATGTACCACTTTCTTATTG 0.303 NA 7 47 8.12818e-05 0.00104323 8.12818e-05 1 0 SYT10 341359 broad.mit.edu 37 12 33592376 33592376 + Nonsense_Mutation SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr12:33592376G>A uc001rll.1 - 1 379 c.82C>T c.(82-84)CAG>TAG p.Q28* SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 28 Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CACTCCACCTGGCCGGCGAAG 0.622 NA 31 150 0 0 0.000279167 0 0 DPY19L2 283417 broad.mit.edu 37 12 64038229 64038229 + Missense_Mutation SNP T T A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr12:64038229T>A uc001srp.1 - 6 938 c.757A>T c.(757-759)AAT>TAT p.N253Y DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 253 Helical; (Potential). multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ATTAGTCCATTTAAAATAAAG 0.363 NA 14 30 0 0 0.000958276 0 0 CAND1 55832 broad.mit.edu 37 12 67696217 67696217 + Missense_Mutation SNP A A G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr12:67696217A>G uc001stn.2 + 8 1552 c.1115A>G c.(1114-1116)TAC>TGC p.Y372C CAND1_uc001sto.2_Missense_Mutation_p.Y50C NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 372 HEAT 9. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) CCAGAATTCTACAAGACCGTC 0.423 NA 3 133 0 0 0.00024832 0 0 GCN1L1 10985 broad.mit.edu 37 12 120595667 120595667 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr12:120595667C>T uc001txo.2 - 26 3086 c.3073G>A c.(3073-3075)GGG>AGG p.G1025R NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1025 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCACCCGCCCGGGTGGGGTG 0.602 NA 10 32 0 0 0.000978159 0 0 CLIP1 6249 broad.mit.edu 37 12 122812709 122812709 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr12:122812709C>T uc001ucg.1 - 16 3140 c.3034G>A c.(3034-3036)GAA>AAA p.E1012K CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1012 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ATTTTCTTTTCCTGCAGAGAC 0.493 NA 13 131 0 0 0.000720815 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485353 97485353 + Missense_Mutation SNP G G C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr13:97485353G>C uc001vmw.2 + 2 1341 c.1317G>C c.(1315-1317)AGG>AGC p.R439S NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 439 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AGGAGCGGAGGCTGCAGCGAG 0.597 NA 3 49 0 0 0.00024832 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215836 20215836 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr14:20215836G>T uc010tkt.1 + 1 250 c.250G>T c.(250-252)GGG>TGG p.G84W NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAAGATGTTAGGGGATTTCCT 0.463 NA 19 63 6.94344e-10 1.02485e-08 0.00074312 1 0 ARID4A 5926 broad.mit.edu 37 14 58831552 58831552 + Missense_Mutation SNP A A G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr14:58831552A>G uc001xdp.2 + 20 2999 c.2745A>G c.(2743-2745)ATA>ATG p.I915M ARID4A_uc001xdo.2_Missense_Mutation_p.I915M|ARID4A_uc001xdq.2_Missense_Mutation_p.I915M|ARID4A_uc010apg.1_Missense_Mutation_p.I593M NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 915 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 CATCATTGATAGCAGAGTCAA 0.363 NA 16 52 0 0 0.00074312 0 0 RTL1 388015 broad.mit.edu 37 14 101350989 101350989 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr14:101350989C>A uc010txj.1 - 1 196 c.137G>T c.(136-138)GGG>GTG p.G46V uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 46 pancreas(1) 1 GCTGGCTGGCCCTGCCTCTCC 0.597 NA 12 22 6.40141e-05 0.000828814 0.000978159 1 0 OR4M2 390538 broad.mit.edu 37 15 22368719 22368719 + Silent SNP C C G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr15:22368719C>G uc010tzu.1 + 1 144 c.144C>G c.(142-144)ACC>ACG p.T48T LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 48 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCATTTGCACCATCAGTCTAG 0.428 NA 34 836 0 0 0.000692331 0 0 MEIS2 4212 broad.mit.edu 37 15 37390313 37390313 + Missense_Mutation SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr15:37390313G>A uc001zjr.2 - 2 1137 c.100C>T c.(100-102)CCC>TCC p.P34S MEIS2_uc001zjl.2_Missense_Mutation_p.P21S|MEIS2_uc010ucj.1_Missense_Mutation_p.P21S|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.P34S|MEIS2_uc001zjp.2_Missense_Mutation_p.P34S|MEIS2_uc001zjs.2_Missense_Mutation_p.P34S|MEIS2_uc001zju.2_Missense_Mutation_p.P21S|MEIS2_uc001zjt.2_Missense_Mutation_p.P34S NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 34 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TGAACCGGGGGGATCGGCCGC 0.672 NA 13 46 0 0 0.000151284 0 0 NTHL1 4913 broad.mit.edu 37 16 2089996 2089996 + Missense_Mutation SNP A A C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr16:2089996A>C uc002col.1 - 6 887 c.868T>G c.(868-870)TGT>GGT p.C290G NTHL1_uc002com.1_Missense_Mutation_p.C291G NM_002528 NP_002519 P78549 NTHL1_HUMAN nth endonuclease III-like 1 290 Iron-sulfur (4Fe-4S) (By similarity). depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 ACAGGCAGACAGGTCTGCTGG 0.697 NA BER_DNA_glycosylases 10 37 0 0 0.000978159 0 0 HYDIN 54768 broad.mit.edu 37 16 70891750 70891750 + Silent SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr16:70891750G>A uc002ezr.2 - 72 12278 c.12150C>T c.(12148-12150)TTC>TTT p.F4050F HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4051 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TGCCCAGATGGAAAGGTGTGA 0.468 NA 8 28 0 0 0.000274275 0 0 NF1 4763 broad.mit.edu 37 17 29664869 29664869 + Nonsense_Mutation SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr17:29664869G>A uc002hgg.2 + 44 7008 c.6675G>A c.(6673-6675)TGG>TGA p.W2225* NF1_uc002hgh.2_Nonsense_Mutation_p.W2204*|NF1_uc010cso.2_Nonsense_Mutation_p.W413*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2225 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CGTGCAAGTGGCTGGACCAGT 0.318 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 5 22 0 0 8.12818e-05 0 0 EFTUD2 9343 broad.mit.edu 37 17 42929916 42929916 + Missense_Mutation SNP T T A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr17:42929916T>A uc002ihn.2 - 26 2837 c.2576A>T c.(2575-2577)CAG>CTG p.Q859L EFTUD2_uc010wje.1_Missense_Mutation_p.Q824L|EFTUD2_uc010wjf.1_Missense_Mutation_p.Q849L NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 859 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) GGGTGCATCCTGAGTCACGTG 0.522 Ovarian(10;65 485 10258 29980 30707) NA 9 117 0 0 0.000673444 0 0 ABCA9 10350 broad.mit.edu 37 17 66985997 66985997 + Silent SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr17:66985997C>T uc002jhu.2 - 30 4055 c.3912G>A c.(3910-3912)AAG>AAA p.K1304K ABCA9_uc010dez.2_Silent_p.K1266K NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1304 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CAATTTTTTTCTTCCTTTTAG 0.358 NA 8 48 0 0 0.000157383 0 0 SLMO1 10650 broad.mit.edu 37 18 12420398 12420398 + Missense_Mutation SNP T T A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr18:12420398T>A uc002kra.2 + 2 187 c.107T>A c.(106-108)GTG>GAG p.V36E SLMO1_uc010wzu.1_Missense_Mutation_p.V36E|SLMO1_uc010wzv.1_Missense_Mutation_p.V15E NM_001142405 NP_001135877 Q96N28 SLMO1_HUMAN slowmo homolog 1 isoform 1 36 PRELI/MSF1. 0 GTGCTGGGCGTGGATGTGCTA 0.711 NA 5 22 0 0 3.59834e-05 0 0 STK11 6794 broad.mit.edu 37 19 1221228 1221229 + Missense_Mutation DNP GG GG TT TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr19:1221228_1221229GG>TT uc002lrl.1 + 6 1866_1867 c.751_752GG>TT c.(751-753)GGT>TTT p.G251F NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 251 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CATCACCACGGGTCTGTACCCC 0.589 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 3 19 0 0 6.4e-05 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767776 31767776 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr19:31767776C>A uc002nsy.3 - 2 2988 c.2923G>T c.(2923-2925)GTC>TTC p.V975F NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 975 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CAAAAGAAGACGGGGTGGCCA 0.512 NA 24 62 7.41945e-09 1.05299e-07 0.000878237 1 0 MAP3K10 4294 broad.mit.edu 37 19 40710443 40710443 + Silent SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr19:40710443G>A uc002ona.2 + 3 1203 c.915G>A c.(913-915)GAG>GAA p.E305E MAP3K10_uc002onb.2_5'UTR NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 305 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 CCTACCGTGAGATCGACGCCT 0.667 NA 6 39 0 0 8.12818e-05 0 0 ZNF235 9310 broad.mit.edu 37 19 44792062 44792062 + Missense_Mutation SNP T T A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr19:44792062T>A uc002oza.3 - 5 1629 c.1526A>T c.(1525-1527)CAT>CTT p.H509L ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.H505L|ZNF235_uc010xwx.1_Missense_Mutation_p.H423L NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 509 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) CTCTCCTGTATGGACCCTCTG 0.448 NA 8 160 0 0 0.000274275 0 0 RTN2 6253 broad.mit.edu 37 19 45989342 45989342 + Silent SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr19:45989342C>T uc002pcb.2 - 10 1755 c.1527G>A c.(1525-1527)GTG>GTA p.V509V RTN2_uc002pcc.2_Silent_p.V436V|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 509 Reticulon. integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) ACTGATTGGTCACCAACCCCA 0.522 NA OREG0025555 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 74 0 0 0.000157383 0 0 KLK11 11012 broad.mit.edu 37 19 51525889 51525889 + Missense_Mutation SNP T T A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr19:51525889T>A uc002pvd.1 - 6 873 c.761A>T c.(760-762)GAT>GTT p.D254V KLK10_uc002puy.2_5'Flank|KLK10_uc002puz.2_5'Flank|KLK10_uc002pva.2_5'Flank|KLK11_uc002pvb.1_Missense_Mutation_p.D247V|KLK11_uc002pve.1_Missense_Mutation_p.D111V|KLK11_uc002pvf.1_Missense_Mutation_p.D222V|KLK11_uc002pvc.3_Missense_Mutation_p.D222V NM_144947 NP_659196 Q9UBX7 KLK11_HUMAN kallikrein 11 isoform 2 precursor 254 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) CGCACACGGATCCTGGCCCCA 0.552 NA 7 111 0 0 0.000274275 0 0 NLRP12 91662 broad.mit.edu 37 19 54313810 54313810 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr19:54313810G>T uc002qch.3 - 3 1323 c.1103C>A c.(1102-1104)GCA>GAA p.A368E NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A368E|NLRP12_uc002qcj.3_Missense_Mutation_p.A368E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A368E NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 368 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTTCCTTTCTGCCTCAGAGAA 0.542 NA 38 171 2.52637e-11 3.8843e-10 0.00111076 1 0 ITSN2 50618 broad.mit.edu 37 2 24498701 24498701 + Nonsense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr2:24498701G>T uc002rfe.2 - 18 2220 c.1962C>A c.(1960-1962)TAC>TAA p.Y654* ITSN2_uc002rff.2_Nonsense_Mutation_p.Y627*|ITSN2_uc002rfg.2_Nonsense_Mutation_p.Y654* NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 654 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGTGTGTTGTAGGTTTCTC 0.323 NA 10 53 4.68919e-08 6.52947e-07 0.000673444 1 0 PSME4 23198 broad.mit.edu 37 2 54148147 54148147 + Missense_Mutation SNP T T A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr2:54148147T>A uc002rxp.2 - 18 2197 c.2141A>T c.(2140-2142)TAC>TTC p.Y714F PSME4_uc010yop.1_Missense_Mutation_p.Y600F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.Y89F|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 714 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGACAGAGTGTAACCCTGCTT 0.433 NA 25 120 0 0 0.000586117 0 0 RTKN 6242 broad.mit.edu 37 2 74659594 74659594 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr2:74659594C>T uc002sle.2 - 2 428 c.311G>A c.(310-312)CGG>CAG p.R104Q RTKN_uc002slc.2_Missense_Mutation_p.R91Q|RTKN_uc002sld.2_Missense_Mutation_p.R54Q|RTKN_uc010ffe.1_Intron|RTKN_uc010fff.1_Missense_Mutation_p.R91Q|RTKN_uc010ffg.1_Missense_Mutation_p.R104Q NM_001015055 NP_001015055 Q9BST9 RTKN_HUMAN rhotekin isoform a 104 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity skin(1) 1 CCTTGCTCACCGCCGGCTTGT 0.637 NA 6 79 0 0 8.12818e-05 0 0 PTPN4 5775 broad.mit.edu 37 2 120677693 120677693 + Missense_Mutation SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr2:120677693G>A uc002tmf.1 + 12 1648 c.877G>A c.(877-879)GCA>ACA p.A293T PTPN4_uc010flj.1_Missense_Mutation_p.A6T NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 293 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) GAATTACAGAGCATGTAAAAA 0.333 NA 12 78 0 0 0.000978159 0 0 DARS 1615 broad.mit.edu 37 2 136673803 136673803 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr2:136673803C>T uc002tux.1 - 11 1283 c.1099G>A c.(1099-1101)GAT>AAT p.D367N DARS_uc010fnj.1_Missense_Mutation_p.D267N NM_001349 NP_001340 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 367 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) AACCTCAGATCGTCTTCATCT 0.264 NA 9 57 0 0 0.000673444 0 0 MYO3B 140469 broad.mit.edu 37 2 171239692 171239692 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr2:171239692C>A uc002ufy.2 + 11 1321 c.1178C>A c.(1177-1179)TCT>TAT p.S393Y MYO3B_uc002ufv.2_Missense_Mutation_p.S380Y|MYO3B_uc010fqb.1_Missense_Mutation_p.S380Y|MYO3B_uc002ufz.2_Missense_Mutation_p.S393Y|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 393 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 AGCATATACTCTCCACAGGTA 0.348 NA 20 110 6.44725e-10 9.61227e-09 0.000295444 1 0 MAP2 4133 broad.mit.edu 37 2 210560942 210560942 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr2:210560942G>T uc002vde.1 + 7 4296 c.4048G>T c.(4048-4050)GCT>TCT p.A1350S MAP2_uc002vdc.1_Missense_Mutation_p.A1350S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1346S NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1350 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTCCCCAGAGGCTCCAGCTTC 0.483 Pancreas(27;423 979 28787 29963) NA 22 88 6.21321e-17 1.09175e-15 0.000375601 1 0 WDR69 164781 broad.mit.edu 37 2 228767798 228767798 + Silent SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr2:228767798G>A uc002vpn.1 + 7 700 c.621G>A c.(619-621)CAG>CAA p.Q207Q WDR69_uc010zlw.1_Silent_p.Q192Q|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 207 WD 3. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) GGGACATTCAGAATGGCGAGG 0.358 NA 9 42 0 0 0.000673444 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354495 45354495 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr20:45354495G>T uc002xsl.2 + 2 917 c.820G>T c.(820-822)GTG>TTG p.V274L NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 274 Helical; Name=8; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GCTGGCCTCTGTGGGGCTTGG 0.632 NA 31 75 6.90743e-12 1.08461e-10 0.000692331 1 0 TPTE 7179 broad.mit.edu 37 21 10959797 10959797 + Silent SNP C C G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr21:10959797C>G uc002yip.1 - 8 545 c.177G>C c.(175-177)GTG>GTC p.V59V TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.V41V|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 59 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCGTGCTAACACACTTTAGC 0.328 NA 4 111 0 0 0.00024832 0 0 IGLL1 3543 broad.mit.edu 37 22 23915549 23915549 + Silent SNP C C G rs146592375 TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr22:23915549C>G uc002zxd.2 - 3 664 c.546G>C c.(544-546)ACG>ACC p.T182T IGLL1_uc002zxe.2_3'UTR NM_020070 NP_064455 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 isoform 182 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane 0 ACTGCTCGGGCGTCAGGCTCA 0.612 NA 20 54 0 0 0.000175454 0 0 MYH9 4627 broad.mit.edu 37 22 36710225 36710225 + Missense_Mutation SNP C C G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr22:36710225C>G uc003apg.2 - 13 1750 c.1519G>C c.(1519-1521)GAC>CAC p.D507H MYH9_uc003aph.1_Missense_Mutation_p.D371H NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 507 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GGCTGCAGGTCGAGGCCAAAG 0.582 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 7 34 0 0 0.000157383 0 0 MITF 4286 broad.mit.edu 37 3 69990419 69990419 + Silent SNP A A G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr3:69990419A>G uc003dnz.2 + 5 815 c.699A>G c.(697-699)CTA>CTG p.L233L MITF_uc011bgb.1_Silent_p.L181L|MITF_uc003doa.2_Silent_p.L232L|MITF_uc003dob.2_Silent_p.L217L|MITF_uc003dod.2_Silent_p.L208L|MITF_uc003doe.2_Silent_p.L126L|MITF_uc003dof.2_Silent_p.L126L NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 233 Transactivation. 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) TCATTAGCCTAGAATCAAGTT 0.343 Melanoma(29;269 969 31479 41502 42961) NA A melanoma Waardenburg syndrome type 2|Tietz syndrome 5 29 0 0 8.12818e-05 0 0 CNTN3 5067 broad.mit.edu 37 3 74411061 74411061 + Silent SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr3:74411061C>T uc003dpm.1 - 10 1424 c.1344G>A c.(1342-1344)GTG>GTA p.V448V NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 448 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCTGCACGCTCACATCCCCCT 0.468 NA 7 71 0 0 8.12818e-05 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41038924 41038924 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr5:41038924G>T uc003jmj.3 - 21 2618 c.2128C>A c.(2128-2130)CTC>ATC p.L710I HEATR7B2_uc003jmi.3_Missense_Mutation_p.L265I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 710 binding ovary(6)|central_nervous_system(2) 8 GGAGCATGGAGGGCCACTGCT 0.478 NA 9 37 3.86212e-05 0.000504468 0.000673444 1 0 GPR98 84059 broad.mit.edu 37 5 90072275 90072275 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr5:90072275G>T uc003kju.2 + 61 12505 c.12409G>T c.(12409-12411)GCA>TCA p.A4137S GPR98_uc003kjt.2_Missense_Mutation_p.A1843S NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4137 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTAGGTAGTGCATCAATAAT 0.318 NA 5 17 0.000602214 0.00766266 0.000602214 1 0 YTHDC2 64848 broad.mit.edu 37 5 112860861 112860861 + Missense_Mutation SNP T T A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr5:112860861T>A uc003kqn.2 + 3 645 c.462T>A c.(460-462)TTT>TTA p.F154L YTHDC2_uc010jce.1_Missense_Mutation_p.F154L|YTHDC2_uc010jcf.1_Intron NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 154 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GAAATGTGTTTGCAGTTGAAG 0.353 NA 6 34 0 0 8.12818e-05 0 0 NMUR2 56923 broad.mit.edu 37 5 151784021 151784021 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr5:151784021C>A uc003luv.2 - 1 820 c.654G>T c.(652-654)CAG>CAT p.Q218H NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 218 Helical; Name=5; (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AGGAGGTGACCTGGATGATGA 0.532 NA 16 110 2.23348e-06 3.02442e-05 0.000422831 1 0 LCP2 3937 broad.mit.edu 37 5 169697723 169697723 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr5:169697723C>A uc003man.1 - 7 730 c.523G>T c.(523-525)GAC>TAC p.D175Y LCP2_uc011det.1_Missense_Mutation_p.D4Y|LCP2_uc010jjo.1_5'Flank NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 175 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) GGGCCCTTACCGATGTACATG 0.582 NA 16 60 2.48551e-13 4.03143e-12 0.000566183 1 0 PHIP 55023 broad.mit.edu 37 6 79655879 79655879 + Missense_Mutation SNP T T C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr6:79655879T>C uc003pir.2 - 38 4695 c.4469A>G c.(4468-4470)AAT>AGT p.N1490S PHIP_uc003piq.2_Missense_Mutation_p.N514S|PHIP_uc011dyp.1_Missense_Mutation_p.N1489S|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.N376S NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1490 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTGAGCAGCATTGTGTCTTGG 0.438 NA 11 83 0 0 0.000978159 0 0 HS3ST5 222537 broad.mit.edu 37 6 114383989 114383989 + Silent SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr6:114383989C>T uc003pwg.3 - 1 53 c.21G>A c.(19-21)GCG>GCA p.A7A uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.A7A NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 7 Cytoplasmic (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GTCTCAGCCACGCCTGCTGTT 0.547 NA 10 62 0 0 0.000673444 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762987 130762987 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr6:130762987C>T uc003qca.2 + 3 2291 c.1420C>T c.(1420-1422)CAT>TAT p.H474Y TMEM200A_uc010kfh.2_Missense_Mutation_p.H474Y|TMEM200A_uc010kfi.2_Missense_Mutation_p.H474Y|TMEM200A_uc003qcb.2_Missense_Mutation_p.H474Y NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 474 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GAGTTTTGAACATGATGAGTT 0.323 NA 10 29 0 0 0.000442599 0 0 UTRN 7402 broad.mit.edu 37 6 144803496 144803496 + Missense_Mutation SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr6:144803496G>A uc003qkt.2 + 26 3751 c.3659G>A c.(3658-3660)AGA>AAA p.R1220K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1220 Spectrin 8. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTTTGTAATAGAATTCGAGGA 0.343 NA 11 32 0 0 0.000151284 0 0 CPVL 54504 broad.mit.edu 37 7 29070208 29070208 + Silent SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr7:29070208C>A uc003szv.2 - 12 1424 c.1305G>T c.(1303-1305)GCG>GCT p.A435A CPVL_uc003szw.2_Silent_p.A435A|CPVL_uc003szx.2_Silent_p.A435A NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 435 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 GGAAGTCACCCGCTTGCCGGA 0.478 NA 35 190 5.71845e-15 9.70165e-14 0.00111076 1 0 PION 54103 broad.mit.edu 37 7 76982913 76982913 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr7:76982913C>A uc003ugf.2 - 17 1463 c.1384G>T c.(1384-1386)GAC>TAC p.D462Y PION_uc003ugg.1_Missense_Mutation_p.D247Y NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 462 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 TGAATGAGGTCAAATGAATGG 0.378 NA 9 52 0.000673444 0.00849576 0.000673444 1 0 SAMD9L 219285 broad.mit.edu 37 7 92762430 92762430 + Missense_Mutation SNP C C G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr7:92762430C>G uc003umh.1 - 5 4071 c.2855G>C c.(2854-2856)AGT>ACT p.S952T SAMD9L_uc003umj.1_Missense_Mutation_p.S952T|SAMD9L_uc003umi.1_Missense_Mutation_p.S952T|SAMD9L_uc010lfb.1_Missense_Mutation_p.S952T|SAMD9L_uc003umk.1_Missense_Mutation_p.S952T|SAMD9L_uc010lfc.1_Missense_Mutation_p.S952T|SAMD9L_uc010lfd.1_Missense_Mutation_p.S952T|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 952 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CCAGGGTGTACTAGTGTATAT 0.383 NA 3 28 0 0 6.4e-05 0 0 FLNC 2318 broad.mit.edu 37 7 128481258 128481258 + Silent SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr7:128481258C>A uc003vnz.3 + 12 2057 c.1848C>A c.(1846-1848)ATC>ATA p.I616I FLNC_uc003voa.3_Silent_p.I616I NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 616 Filamin 4. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 AAGCCAAGATCGAATGTGACG 0.637 NA 20 77 5.26018e-13 8.43916e-12 0.000229342 1 0 SLC35B4 84912 broad.mit.edu 37 7 133986513 133986513 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr7:133986513C>A uc003vrn.2 - 6 811 c.487G>T c.(487-489)GGT>TGT p.G163C SLC35B4_uc010lmk.2_Missense_Mutation_p.G27C|SLC35B4_uc010lml.1_Missense_Mutation_p.G95C|SLC35B4_uc003vro.3_Missense_Mutation_p.G163C NM_032826 NP_116215 Q969S0 S35B4_HUMAN solute carrier family 35, member B4 163 Helical; (Potential). Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity skin(1) 1 TTGTACTTGCCTAGTAACCAC 0.393 NA 30 170 4.31634e-10 6.50093e-09 0.000409698 1 0 TRY6 154754 broad.mit.edu 37 7 142482242 142482242 + Missense_Mutation SNP G G A rs143538588 by1000genomes TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr7:142482242G>A uc011ksq.1 + 5 705 c.622G>A c.(622-624)GGA>AGA p.G208R uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_Intron NR_001296 SubName: Full=Protease, serine, 3; Flags: Fragment; 0 GGTCTGCAATGGACAGCTTCA 0.493 NA 5 50 0 0 3.59834e-05 0 0 OR6B1 135946 broad.mit.edu 37 7 143701548 143701548 + Silent SNP T T C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr7:143701548T>C uc003wdt.1 + 1 459 c.459T>C c.(457-459)TTT>TTC p.F153F NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) CCATTGGCTTTGGCATCTCCC 0.532 NA 4 31 0 0 0.00024832 0 0 PLAG1 5324 broad.mit.edu 37 8 57080807 57080807 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr8:57080807C>T uc003xsq.3 - 2 473 c.22G>A c.(22-24)GAT>AAT p.D8N PLAG1_uc003xsr.3_Missense_Mutation_p.D8N|PLAG1_uc010lyi.2_Missense_Mutation_p.D8N|PLAG1_uc010lyj.2_Intron NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 8 Interacts with KPNA2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TCTGACAAATCACCAGGAATG 0.463 NA T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma 7 67 0 0 0.000274275 0 0 CHD7 55636 broad.mit.edu 37 8 61774808 61774808 + Silent SNP T T C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr8:61774808T>C uc003xue.2 + 36 8361 c.7884T>C c.(7882-7884)CAT>CAC p.H2628H NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2628 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AGAAACGACATAGATGTCGAA 0.353 NA 4 16 0 0 0.00024832 0 0 DPY19L4 286148 broad.mit.edu 37 8 95792635 95792635 + Missense_Mutation SNP T T C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr8:95792635T>C uc003ygx.2 + 15 1748 c.1624T>C c.(1624-1626)TGG>CGG p.W542R NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 542 Helical; (Potential). integral to membrane ovary(2) 2 Breast(36;3.85e-06) TCTCAGCTTATGGAAAGAGGt 0.299 NA 11 38 0 0 0.000978159 0 0 ZFAT 57623 broad.mit.edu 37 8 135622829 135622829 + Missense_Mutation SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr8:135622829G>A uc003yup.2 - 4 693 c.518C>T c.(517-519)CCA>CTA p.P173L ZFAT_uc003yun.2_Missense_Mutation_p.P161L|ZFAT_uc003yuo.2_Missense_Mutation_p.P161L|ZFAT_uc010meh.2_Missense_Mutation_p.P161L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.P161L|ZFAT_uc010mej.2_Intron|ZFAT_uc003yur.2_Missense_Mutation_p.P161L NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTGTGACCGTGGTCTTTTCGA 0.443 NA 17 66 0 0 0.000229342 0 0 FBXO10 26267 broad.mit.edu 37 9 37541466 37541466 + Silent SNP T T C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr9:37541466T>C uc004aab.2 - 2 349 c.300A>G c.(298-300)CTA>CTG p.L100L FBXO10_uc004aac.2_Silent_p.L116L|FBXO10_uc004aad.2_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 100 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) TCCGGCGGAATAGAGAAAAGC 0.552 NA 8 33 0 0 0.000157383 0 0 COL15A1 1306 broad.mit.edu 37 9 101824569 101824569 + Missense_Mutation SNP C C T rs142838918 byFrequency TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr9:101824569C>T uc004azb.1 + 38 3780 c.3574C>T c.(3574-3576)CCT>TCT p.P1192S NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1192 Nonhelical region 10 (NC10). Missing (in Ref. 2; AAC78500). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CCCTCCACCCCCTGCGCTTTC 0.458 NA 7 39 0 0 0.000274275 0 0 ASS1 445 broad.mit.edu 37 9 133333866 133333866 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr9:133333866G>T uc004bzm.2 + 5 609 c.253G>T c.(253-255)GAC>TAC p.D85Y ASS1_uc004bzn.2_Missense_Mutation_p.D85Y|ASS1_uc010mza.2_Missense_Mutation_p.D161Y|ASS1_uc004bzo.2_Missense_Mutation_p.D85Y|ASS1_uc010mzb.2_Missense_Mutation_p.D123Y|ASS1_uc004bzp.2_Missense_Mutation_p.D85Y|ASS1_uc010mzc.2_Missense_Mutation_p.D85Y NM_000050 NP_000041 P00966 ASSY_HUMAN argininosuccinate synthetase 1 85 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) ACTGTATGAGGACCGCTACCT 0.612 NA 8 41 5.18039e-06 6.95114e-05 0.000157383 1 0 SARDH 1757 broad.mit.edu 37 9 136529011 136529011 + Nonstop_Mutation SNP T T C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr9:136529011T>C uc004cep.3 - 21 2891 c.2757A>G c.(2755-2757)TGA>TGG p.*919W SARDH_uc004ceo.2_Nonstop_Mutation_p.*919W|SARDH_uc011mdn.1_Nonstop_Mutation_p.*919W|SARDH_uc011mdo.1_Nonstop_Mutation_p.*751W|SARDH_uc004cen.2_Nonstop_Mutation_p.*369W NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 919 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCTGAGCCCTCAGTAGATTC 0.597 NA 4 170 0 0 0.000602214 0 0 VCX 26609 broad.mit.edu 37 X 7811292 7811292 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:7811292G>T uc004crz.2 + 2 267 c.48G>T c.(46-48)GAG>GAT p.E16D NM_013452 NP_038480 Q9H320 VCX1_HUMAN variable charge, X chromosome 16 chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding 0 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) AGGCCACGGAGGCAGGAAAGA 0.632 NA 18 154 4.65686e-17 8.28136e-16 0.000692331 1 0 FAM47A 158724 broad.mit.edu 37 X 34149183 34149183 + Missense_Mutation SNP T T C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:34149183T>C uc004ddg.2 - 1 1246 c.1213A>G c.(1213-1215)AAG>GAG p.K405E NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 405 ovary(4)|central_nervous_system(1) 5 ACTCCAGTCTTGGGAGGCACT 0.577 NA 12 46 0 0 0.00010058 0 0 PIM2 11040 broad.mit.edu 37 X 48772360 48772360 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:48772360C>A uc004dls.2 - 4 834 c.532G>T c.(532-534)GCC>TCC p.A178S NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN serine/threonine protein kinase pim-2 178 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 ATGAGTTTGGCACAGCCACGG 0.498 NA 11 43 9.05144e-12 1.40631e-10 0.000151284 1 0 WNK3 65267 broad.mit.edu 37 X 54359891 54359891 + Silent SNP G G T rs144041648 TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:54359891G>T uc004dtd.1 - 2 655 c.216C>A c.(214-216)GCC>GCA p.A72A WNK3_uc004dtc.1_Silent_p.A72A NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 72 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GGGATGATTCGGCAACTTTGT 0.393 NA 31 105 1.30897e-18 2.35615e-17 0.000279167 1 0 ERCC6L 54821 broad.mit.edu 37 X 71426847 71426847 + Silent SNP T T C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:71426847T>C uc004eaq.1 - 2 1867 c.1770A>G c.(1768-1770)GTA>GTG p.V590V PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.V467V NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 590 Helicase C-terminal. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) TTTTTTCCTCTACAGTCCCAC 0.368 NA 15 90 0 0 0.000308642 0 0 COL4A6 1288 broad.mit.edu 37 X 107418883 107418883 + Splice_Site SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:107418883C>A uc004enw.3 - 29 2936 c.2833_splice c.e29+1 p.G945_splice COL4A6_uc004env.3_Splice_Site_p.G944_splice|COL4A6_uc011msn.1_Splice_Site_p.G944_splice|COL4A6_uc010npk.2_Splice_Site_p.G944_splice NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CCCCAGCTCACCCTTTTCACC 0.428 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 15 68 1.56452e-12 2.48305e-11 0.000958276 1 0 ACSL4 2182 broad.mit.edu 37 X 108926642 108926642 + Missense_Mutation SNP A A G TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:108926642A>G uc004eoi.2 - 4 579 c.74T>C c.(73-75)CTT>CCT p.L25P ACSL4_uc004eoj.2_Intron|ACSL4_uc004eok.2_Intron|ACSL4_uc010npp.1_Missense_Mutation_p.L25P NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 25 Helical; Signal-anchor for type III membrane protein; (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) AATAAATATAAGGGCACTGTA 0.373 Pancreas(188;358 2127 38547 41466 45492) NA 28 102 0 0 0.000184323 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130222678 130222678 + Silent SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:130222678C>T uc004evz.2 + 12 1908 c.1563C>T c.(1561-1563)CCC>CCT p.P521P ARHGAP36_uc004ewa.2_Silent_p.P509P|ARHGAP36_uc004ewb.2_Silent_p.P490P|ARHGAP36_uc004ewc.2_Silent_p.P385P NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 521 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 GTAACCCTCCCATTCCGGAGC 0.517 NA 11 35 0 0 0.00010058 0 0 DDX26B 203522 broad.mit.edu 37 X 134681100 134681100 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:134681100C>A uc004eyw.3 + 6 1015 c.652C>A c.(652-654)CAA>AAA p.Q218K NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 218 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) AATGTTGAATCAATGTTTAGA 0.328 NA 21 182 8.24728e-16 1.43212e-14 0.000720815 1 0 CT45A1 541466 broad.mit.edu 37 X 134856769 134856769 + Missense_Mutation SNP A A C TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:134856769A>C uc004eyy.2 + 5 789 c.544A>C c.(544-546)AAG>CAG p.K182Q NM_001017417 NP_001017417 Q5HYN5 CT451_HUMAN cancer/testis antigen family 45, member A1 182 0 TAAGCACCTTAAGAAGAAACT 0.383 NA 6 596 0 0 0.000442599 0 0 MMGT1 93380 broad.mit.edu 37 X 135047290 135047290 + Missense_Mutation SNP C C A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:135047290C>A uc004ezi.1 - 4 589 c.289G>T c.(289-291)GGT>TGT p.G97C MMGT1_uc011mvw.1_Missense_Mutation_p.G162C NM_173470 NP_775741 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 precursor 97 Cytoplasmic (Potential). early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity 0 AGTACTCGACCACGATGATTA 0.363 NA 27 180 7.26314e-15 1.21823e-13 0.000184323 1 0 MCF2 4168 broad.mit.edu 37 X 138708452 138708452 + Missense_Mutation SNP A A T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:138708452A>T uc004fau.2 - 6 881 c.587T>A c.(586-588)GTA>GAA p.V196E MCF2_uc004fav.2_Missense_Mutation_p.V196E|MCF2_uc011mwl.1_Missense_Mutation_p.V157E|MCF2_uc010nsh.1_Missense_Mutation_p.V196E|MCF2_uc011mwm.1_Missense_Mutation_p.V157E|MCF2_uc011mwn.1_Missense_Mutation_p.V341E|MCF2_uc004faw.2_Missense_Mutation_p.V256E|MCF2_uc011mwo.1_Missense_Mutation_p.V256E NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 196 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) CATATCATGTACTTGAGTCAG 0.338 NA 19 69 0 0 0.000175454 0 0 FMR1NB 158521 broad.mit.edu 37 X 147106420 147106420 + Missense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:147106420G>T uc004fcm.2 + 5 742 c.668G>T c.(667-669)AGA>ATA p.R223I NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 223 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CAGGACAACAGAGTTGTAACG 0.418 NA 17 91 3.32936e-07 4.55012e-06 0.00074312 1 0 MAGEA6 4105 broad.mit.edu 37 X 151870199 151870199 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:151870199C>T uc004ffq.1 + 3 1083 c.889C>T c.(889-891)CCT>TCT p.P297S MAGEA6_uc004ffr.1_Missense_Mutation_p.P297S|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 297 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) CAGTGGAGGACCTCGCATTTC 0.552 NA 8 226 0 0 0.000157383 0 0 F8 2157 broad.mit.edu 37 X 154158121 154158121 + Missense_Mutation SNP C C T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chrX:154158121C>T uc004fmt.2 - 14 4115 c.3944G>A c.(3943-3945)AGG>AAG p.R1315K NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1315 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGGAGATATCCTTGTGGTGCA 0.388 NA 13 130 0 0 0.000151284 0 0 LRRN2 10446 broad.mit.edu 37 1 204587091 204587091 + Frame_Shift_Del DEL G G - TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr1:204587091delG uc001hbe.1 - 3 2418 c.2030delC c.(2029-2031)CCTfs p.P677fs MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Frame_Shift_Del_p.P677fs|LRRN2_uc009xbf.1_Frame_Shift_Del_p.P677fs|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 677 Cytoplasmic (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) CCGGACAGAAGGGGCACTCCA 0.652 NA 11 108 --- --- --- --- NA NA NA NA NA TUBA3C 7278 broad.mit.edu 37 13 19751481 19751481 + Frame_Shift_Del DEL C C - TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr13:19751481delC uc009zzj.2 - 4 691 c.642delG c.(640-642)CGGfs p.R214fs NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 214 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCAGGTTGCGCCGACATATGT 0.572 NA 12 151 --- --- --- --- NA NA NA NA NA DNAH9 1770 broad.mit.edu 37 17 11656200 11656200 + Frame_Shift_Del DEL C C - TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr17:11656200delC uc002gne.2 + 33 6729 c.6661delC c.(6661-6663)CCCfs p.P2221fs DNAH9_uc010coo.2_Frame_Shift_Del_p.P1515fs NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2221 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCATGATGGGCCCAAGTGGAT 0.428 NA 9 41 --- --- --- --- NA NA NA NA NA TBC1D9 23158 broad.mit.edu 37 4 141578684 141578684 + Frame_Shift_Del DEL C C - TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 972572de-a48b-4e1e-8482-05bf5e3e9299 9b08f4ea-7ef6-465c-8480-7430dfb204b0 g.chr4:141578684delC uc010ioj.2 - 12 2476 c.2204delG c.(2203-2205)GGAfs p.G735fs NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 735 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ACAATACCTTCCCAAAACGGT 0.423 NA 42 208 --- --- --- --- NA NA NA NA NA