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 AKR7A3 22977 broad.mit.edu 37 1 19609317 19609317 + Missense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:19609317C>G uc001bbv.1 - 7 981 c.904G>C c.(904-906)GCA>CCA p.A302P NM_012067 NP_036199 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 302 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCTTCCTCTGCCGCTGCCAAG 0.622 NA 8 71 0 0 0.006214 0 0 CC2D1B 200014 broad.mit.edu 37 1 52828382 52828382 + Missense_Mutation SNP G G C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:52828382G>C uc001ctq.1 - 3 244 c.106C>G c.(106-108)CTG>GTG p.L36V CC2D1B_uc001cts.2_5'Flank NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 36 ovary(2) 2 ATGCCCAGCAGCATGTCCTCA 0.572 NA 5 87 0 0 0.000602 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294652 110294652 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:110294652G>A uc001dyr.1 - 15 1544 c.1399C>T c.(1399-1401)CGG>TGG p.R467W EPS8L3_uc001dys.1_Missense_Mutation_p.R437W|EPS8L3_uc001dyq.1_Missense_Mutation_p.R468W|EPS8L3_uc009wfm.1_Missense_Mutation_p.R404W|EPS8L3_uc009wfn.1_Missense_Mutation_p.R412W NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 467 SH3. cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GTCAGTTCCCGTGGGTTCCTA 0.602 NA 21 119 0 0 0.008871 0 0 SPRR4 163778 broad.mit.edu 37 1 152944414 152944414 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:152944414G>T uc001fav.1 + 2 111 c.48G>T c.(46-48)CAG>CAT p.Q16H NM_173080 NP_775103 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 16 Gln-rich. keratinization|peptide cross-linking cell cortex 0 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCCACCCCAGAGGGCCCAGC 0.488 NA 7 118 8.12818e-05 9.66761e-05 0.001984 1 0 SLC27A3 11000 broad.mit.edu 37 1 153748206 153748206 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:153748206G>A uc001fcz.2 + 1 439 c.374G>A c.(373-375)CGC>CAC p.R125H SLC27A3_uc009won.2_RNA NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 125 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding ovary(1) 1 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCCCAGCAGCGCGCCGCGCAC 0.711 NA 11 11 0 0 0.00245 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154989004 154989004 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:154989004A>G uc001fgk.3 + 4 1621 c.1463A>G c.(1462-1464)AAT>AGT p.N488S ZBTB7B_uc009wpa.2_Missense_Mutation_p.N488S|ZBTB7B_uc001fgj.3_Missense_Mutation_p.N522S|ZBTB7B_uc010peq.1_Missense_Mutation_p.N522S|ZBTB7B_uc001fgl.3_Missense_Mutation_p.N488S NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 488 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GACCTCTCCAATGGCCACCTG 0.677 NA 3 40 0 0 0.004672 0 0 CD1E 913 broad.mit.edu 37 1 158325668 158325668 + Missense_Mutation SNP T T A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:158325668T>A uc001fse.2 + 4 916 c.677T>A c.(676-678)CTG>CAG p.L226Q CD1E_uc010pid.1_Missense_Mutation_p.L224Q|CD1E_uc010pie.1_Missense_Mutation_p.L127Q|CD1E_uc010pif.1_Missense_Mutation_p.L37Q|CD1E_uc001fsd.2_Missense_Mutation_p.L226Q|CD1E_uc001fsk.2_Missense_Mutation_p.L136Q|CD1E_uc001fsj.2_Missense_Mutation_p.L136Q|CD1E_uc001fsc.2_Missense_Mutation_p.L37Q|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.L37Q|CD1E_uc001fsf.2_Missense_Mutation_p.L226Q|CD1E_uc001fry.2_Missense_Mutation_p.L226Q|CD1E_uc001fsg.2_Missense_Mutation_p.L37Q|CD1E_uc001fsh.2_Missense_Mutation_p.L37Q|CD1E_uc001fsi.2_Missense_Mutation_p.L226Q|CD1E_uc009wsv.2_Missense_Mutation_p.L127Q|CD1E_uc001frz.2_Missense_Mutation_p.L136Q|CD1E_uc009wsw.2_5'UTR NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 226 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) CCTGGCCGTCTGCAGCTTGTG 0.587 NA 15 63 0 0 0.007413 0 0 TNR 7143 broad.mit.edu 37 1 175324639 175324639 + Missense_Mutation SNP C C A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:175324639C>A uc001gkp.1 - 15 3330 c.3249G>T c.(3247-3249)AAG>AAT p.K1083N TNR_uc009wwu.1_Missense_Mutation_p.K1083N NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1083 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AAAATCTCACCTTGCGGCTTC 0.507 NA 6 121 3.59834e-05 4.37937e-05 0.001168 1 0 CEP350 9857 broad.mit.edu 37 1 180062865 180062865 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:180062865A>G uc001gnt.2 + 34 8008 c.7625A>G c.(7624-7626)TAT>TGT p.Y2542C CEP350_uc009wxl.2_Missense_Mutation_p.Y2541C|CEP350_uc001gnv.2_Missense_Mutation_p.Y677C|CEP350_uc001gnw.1_Missense_Mutation_p.Y299C|CEP350_uc001gnx.1_Missense_Mutation_p.Y299C NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2542 CAP-Gly. centrosome|nucleus|spindle ovary(4) 4 AATGGAACATATGATGGTATT 0.373 NA 9 105 0 0 0.006214 0 0 TMEM63A 9725 broad.mit.edu 37 1 226048664 226048664 + Missense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:226048664C>G uc001hpm.1 - 14 1369 c.1119G>C c.(1117-1119)CAG>CAC p.Q373H NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 373 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) ACTGAAGGCTCTGACACTTGC 0.537 NA 6 117 0 0 0.004482 0 0 LYST 1130 broad.mit.edu 37 1 235850271 235850271 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr1:235850271G>T uc001hxj.2 - 48 10953 c.10778C>A c.(10777-10779)ACA>AAA p.T3593K LYST_uc001hxi.2_Missense_Mutation_p.T817K NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3593 WD 3. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAATCTGTTTGTGTAGGCTGT 0.453 NA Chediak-Higashsyndrome 10 104 0.000978159 0.00111283 0.010729 1 0 AKR1C1 1645 broad.mit.edu 37 10 5014469 5014469 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr10:5014469A>G uc001iho.2 + 11 1488 c.647A>G c.(646-648)TAT>TGT p.Y216C AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Missense_Mutation_p.Y216C NM_001353 NP_001344 Q04828 AK1C1_HUMAN aldo-keto reductase family 1, member C1 216 bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process cytosol 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ovary(2) 2 NADH(DB00157) CTGGTTGCCTATAGTGCTCTG 0.408 Colon(130;2054 2316 13360 15380) NA 6 68 0 0 0.004482 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105363225 105363226 + Missense_Mutation DNP TC TC AA TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr10:105363225_105363226TC>AA uc001kxj.1 - 14 1805_1806 c.1665_1666GA>TT c.(1663-1668)GAGAGG>GATTGG p.555_556ER>DW SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.390_391ER>DW|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.432_433ER>DW|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.390_391ER>DW|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.498_499ER>DW NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 583_584 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GCAGGCCGCCTCTCCCCTGAGG 0.639 NA 5 63 0 0 0.004672 0 0 KCNK18 338567 broad.mit.edu 37 10 118969399 118969399 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr10:118969399G>A uc010qsr.1 + 3 744 c.744G>A c.(742-744)GAG>GAA p.E248E NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 248 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) AAGCCATGGAGAGGAGTAACT 0.532 NA 4 75 0 0 0.009096 0 0 OR4C3 256144 broad.mit.edu 37 11 48347118 48347118 + Missense_Mutation SNP T T G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr11:48347118T>G uc010rhv.1 + 1 626 c.626T>G c.(625-627)TTG>TGG p.L209W NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTGTACCCTTTGCTGGAAGTT 0.522 NA 9 53 0 0 0.010729 0 0 C11orf66 220004 broad.mit.edu 37 11 61257979 61257980 + Missense_Mutation DNP GA GA TG TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr11:61257979_61257980GA>TG uc001nru.1 + 13 1340_1341 c.1215_1216GA>TG c.(1213-1218)CTGACC>CTTGCC p.T406A C11orf66_uc009ynq.1_Missense_Mutation_p.T386A NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN IIIG9 protein 406 ovary(1) 1 GCAGAACCCTGACCTCAGCTGA 0.614 NA 5 138 0 0 0.004672 0 0 C11orf2 738 broad.mit.edu 37 11 64878173 64878173 + Missense_Mutation SNP A A C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr11:64878173A>C uc001ocr.1 + 9 2048 c.2008A>C c.(2008-2010)ATG>CTG p.M670L TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.M546L NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 670 lipid transport|protein transport Golgi apparatus|integral to membrane 0 CAGTGCCCCGATGGACACCAA 0.562 NA OREG0021071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 137 0 0 0.004007 0 0 C2CD3 26005 broad.mit.edu 37 11 73849825 73849825 + Missense_Mutation SNP T T A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr11:73849825T>A uc001ouu.2 - 5 1122 c.895A>T c.(895-897)AGT>TGT p.S299C C2CD3_uc001ouv.2_Missense_Mutation_p.S299C NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 299 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TCACTGTGACTCTTGGCAACT 0.428 NA 7 85 0 0 0.006214 0 0 EED 8726 broad.mit.edu 37 11 85961365 85961365 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr11:85961365A>G uc001pbp.2 + 2 599 c.142A>G c.(142-144)ACA>GCA p.T48A EED_uc010rtm.1_Missense_Mutation_p.T48A|EED_uc001pbq.2_Missense_Mutation_p.T48A|EED_uc001pbr.2_Missense_Mutation_p.T48A|EED_uc001pbs.2_Missense_Mutation_p.T48A NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 48 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) AGAAAGTGGTACAAACACTGA 0.393 NA 4 47 0 0 0.009096 0 0 KDM5A 5927 broad.mit.edu 37 12 463298 463298 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr12:463298G>A uc001qif.1 - 8 1336 c.973C>T c.(973-975)CCT>TCT p.P325S KDM5A_uc001qie.1_Missense_Mutation_p.P325S|KDM5A_uc010sdn.1_Missense_Mutation_p.P284S|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 325 PHD-type 1. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 GGTAGTGGAGGAATTAGACAA 0.393 NA T NUP98 AML 6 53 0 0 0.001168 0 0 PZP 5858 broad.mit.edu 37 12 9346702 9346702 + Missense_Mutation SNP T T A rs144906712 TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr12:9346702T>A uc001qvl.2 - 11 1254 c.1225A>T c.(1225-1227)AGT>TGT p.S409C PZP_uc009zgl.2_Missense_Mutation_p.S278C NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 ACCGAGATACTGGTAGTATTG 0.378 Melanoma(125;1402 1695 4685 34487 38571) NA 10 87 0 0 0.006214 0 0 KLRK1 22914 broad.mit.edu 37 12 10525829 10525829 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr12:10525829G>T uc009zhj.2 - 8 699 c.535C>A c.(535-537)CTA>ATA p.L179I uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Missense_Mutation_p.L179I|KLRK1_uc009zhk.2_Missense_Mutation_p.L179I|KLRK1_uc001qyd.2_Missense_Mutation_p.L179I NM_007360 NP_031386 P26718 NKG2D_HUMAN NKG2-D type II integral membrane protein 179 Extracellular (Potential).|C-type lectin. natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding 0 ATTATTGTTAGTCTAGAGGAG 0.333 NA 13 91 1.36491e-13 1.89638e-13 0.001855 1 0 CCNT1 904 broad.mit.edu 37 12 49088166 49088166 + Missense_Mutation SNP C C A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr12:49088166C>A uc001rse.1 - 9 1154 c.831G>T c.(829-831)AAG>AAT p.K277N LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_5'UTR NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 277 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 GCTCTGAAGTCTTTTCATCTG 0.418 NA 10 137 0.00829132 0.00916716 0.008291 1 0 KRT6C 286887 broad.mit.edu 37 12 52862852 52862852 + Silent SNP C C T rs143211712 TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr12:52862852C>T uc001sal.3 - 9 1737 c.1689G>A c.(1687-1689)AAG>AAA p.K563K NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 563 Tail. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) CACTTTAGTGCTTGTAGCTCT 0.607 NA 7 68 0 0 0.001984 0 0 KRT76 51350 broad.mit.edu 37 12 53169354 53169354 + Silent SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr12:53169354C>T uc001sax.2 - 2 687 c.633G>A c.(631-633)CTG>CTA p.L211L NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 211 Coil 1A.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 ACTTGGTCTCCAGGACCTTGT 0.567 NA 8 129 0 0 0.004482 0 0 POLR3B 55703 broad.mit.edu 37 12 106824084 106824084 + Missense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr12:106824084C>G uc001tlp.2 + 14 1519 c.1297C>G c.(1297-1299)CGC>GGC p.R433G POLR3B_uc001tlq.2_Missense_Mutation_p.R375G NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 433 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TAAAATGGACCGCCAGGGTGT 0.433 NA 28 163 0 0 0.005443 0 0 TNFSF11 8600 broad.mit.edu 37 13 43180954 43180954 + Missense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr13:43180954C>T uc001uyu.2 + 5 1003 c.854C>T c.(853-855)TCT>TTT p.S285F TNFSF11_uc001uyt.2_Missense_Mutation_p.S212F NM_003701 NP_003692 O14788 TNF11_HUMAN tumor necrosis factor ligand superfamily, member 285 Extracellular (Potential). immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding 0 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) AAGTTACGGTCTGGAGAGGAA 0.423 NA 7 120 0 0 0.001984 0 0 RB1 5925 broad.mit.edu 37 13 48941720 48941720 + Nonsense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr13:48941720C>T uc001vcb.2 + 10 1196 c.1030C>T c.(1030-1032)CAG>TAG p.Q344* RB1_uc010act.1_Nonsense_Mutation_p.Q45* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 344 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6)|p.D340fs*5(1)|p.Q344*(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAAAACTCTTCAGACTGATTC 0.279 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 7 118 0 0 0.00308 0 0 PCDH20 64881 broad.mit.edu 37 13 61987635 61987635 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr13:61987635G>A uc001vid.3 - 2 961 c.597C>T c.(595-597)ATC>ATT p.I199I PCDH20_uc010thj.1_Silent_p.I199I NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 172 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGATGTCTCTGATGGCGATCT 0.517 NA 8 77 0 0 0.00308 0 0 OR10G2 26534 broad.mit.edu 37 14 22102425 22102425 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr14:22102425G>A uc010tmc.1 - 1 574 c.574C>T c.(574-576)CTG>TTG p.L192L NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GCACAGGCCAGTCTCAATACT 0.527 NA 15 99 0 0 0.00499 0 0 SOS2 6655 broad.mit.edu 37 14 50667775 50667775 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr14:50667775G>A uc001wxs.3 - 3 339 c.241C>T c.(241-243)CCA>TCA p.P81S SOS2_uc010tql.1_Missense_Mutation_p.P81S NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 81 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TTATCAATTGGGTGAGGAAAG 0.373 NA 8 100 0 0 0.00308 0 0 HEATR4 399671 broad.mit.edu 37 14 73989316 73989316 + Missense_Mutation SNP G G C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr14:73989316G>C uc010tub.1 - 3 863 c.541C>G c.(541-543)CTA>GTA p.L181V HEATR4_uc010tua.1_Missense_Mutation_p.L134V NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TTCACATCTAGAGAAGGTGGC 0.587 NA 7 27 0 0 0.001984 0 0 TDP1 55775 broad.mit.edu 37 14 90430011 90430011 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr14:90430011A>G uc001xxy.2 + 3 852 c.553A>G c.(553-555)ATC>GTC p.I185V TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.I185V|TDP1_uc010atn.2_Missense_Mutation_p.I185V|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.I185V|TDP1_uc001xyc.1_Missense_Mutation_p.I185V NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 185 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) AGCCCTCCACATCAAGGGTAA 0.493 NA Repair_of_DNA-protein_crosslinks 4 79 0 0 0.009096 0 0 OR4N4 283694 broad.mit.edu 37 15 22382756 22382756 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr15:22382756G>T uc001yuc.1 + 7 1265 c.284G>T c.(283-285)AGA>ATA p.R95I LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R95I NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 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) ATCTCCTACAGAGGCTGCATC 0.517 NA 8 176 5.03518e-11 6.81486e-11 0.007413 1 0 OR4N3P 390539 broad.mit.edu 37 15 22413745 22413745 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr15:22413745G>T uc001yuf.2 + 1 44 c.44G>T c.(43-45)AGA>ATA p.R15I NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 ATCTCCTACAGAGGCTGCATC 0.507 NA 7 382 5.50884e-06 6.86419e-06 0.013537 1 0 PLIN1 5346 broad.mit.edu 37 15 90213396 90213396 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr15:90213396G>T uc010upx.1 - 5 523 c.413C>A c.(412-414)ACT>AAT p.T138N PLIN1_uc002boh.2_Missense_Mutation_p.T138N NM_001145311 NP_001138783 O60240 PLIN1_HUMAN perilipin 1 138 triglyceride catabolic process lipid particle lipid binding central_nervous_system(1)|skin(1) 2 CTTGTCTGAAGTGCTCGCGAT 0.627 NA 7 27 2.0095e-06 2.54428e-06 0.001984 1 0 SRRM2 23524 broad.mit.edu 37 16 2814127 2814127 + Missense_Mutation SNP C C A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr16:2814127C>A uc002crk.2 + 11 4147 c.3598C>A c.(3598-3600)CTG>ATG p.L1200M SRRM2_uc002crj.1_Missense_Mutation_p.L1104M|SRRM2_uc002crl.1_Missense_Mutation_p.L1200M|SRRM2_uc010bsu.1_Missense_Mutation_p.L1104M NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1200 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TGAGTCTTCACTGGTATTCAA 0.473 NA 8 136 0.000442599 0.000514727 0.006214 1 0 SLC5A11 115584 broad.mit.edu 37 16 24909301 24909301 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr16:24909301G>T uc002dmu.2 + 10 1109 c.877G>T c.(877-879)GTC>TTC p.V293F SLC5A11_uc002dms.2_Missense_Mutation_p.V229F|SLC5A11_uc010vcd.1_Missense_Mutation_p.V258F|SLC5A11_uc002dmt.2_Missense_Mutation_p.C160F|SLC5A11_uc010vce.1_Missense_Mutation_p.V223F|SLC5A11_uc010bxt.2_Missense_Mutation_p.V229F NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 293 Helical; (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) CCAGGTGATTGTCCAGCGGAC 0.388 NA 37 210 5.71845e-15 8.01604e-15 0.005524 1 0 GSG1L 146395 broad.mit.edu 37 16 27840114 27840114 + Nonsense_Mutation SNP C C A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr16:27840114C>A uc002doz.2 - 5 911 c.826G>T c.(826-828)GAG>TAG p.E276* GSG1L_uc010bya.1_Nonsense_Mutation_p.E225*|GSG1L_uc010bxz.1_Nonsense_Mutation_p.E121*|GSG1L_uc002doy.2_Nonsense_Mutation_p.E121* NM_001109763 NP_001103233 Q6UXU4 GSG1L_HUMAN GSG1-like isoform 1 276 integral to membrane ovary(1) 1 ACTGACCTCTCCCGGAAGTAC 0.602 NA 10 34 1.58986e-06 2.02934e-06 0.008291 1 0 MINK1 50488 broad.mit.edu 37 17 4798435 4798435 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:4798435G>T uc010vsl.1 + 25 3179 c.2983G>T c.(2983-2985)GTC>TTC p.V995F MINK1_uc010vsk.1_Missense_Mutation_p.V966F|MINK1_uc010vsm.1_Missense_Mutation_p.V975F|MINK1_uc010vsn.1_Missense_Mutation_p.V958F|MINK1_uc010vso.1_Missense_Mutation_p.V903F|MINK1_uc010vsp.1_Missense_Mutation_p.V456F NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 995 Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 GGGTTCTGTGGTCAACGTGAA 0.607 NA 17 401 1.02788e-11 1.40328e-11 0.00499 1 0 EIF4A1 1973 broad.mit.edu 37 17 7480995 7480995 + Missense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:7480995C>G uc002gho.1 + 16 2202 c.877C>G c.(877-879)CAT>GAT p.H293D EIF4A1_uc002ghr.1_Missense_Mutation_p.H293D|EIF4A1_uc002ghq.1_Missense_Mutation_p.H293D|EIF4A1_uc002ghp.1_Missense_Mutation_p.H293D|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 293 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 CGAGAAGATGCATGCTCGAGA 0.547 Melanoma(120;278 1668 15796 27423 46368) NA 11 140 0 0 0.010729 0 0 MYH13 8735 broad.mit.edu 37 17 10216590 10216590 + Missense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:10216590C>T uc002gmk.1 - 30 4156 c.4066G>A c.(4066-4068)GAA>AAA p.E1356K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1356 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GCCTTGGCTTCCTGCTCCTCC 0.627 NA 14 129 0 0 0.001855 0 0 COX10 1352 broad.mit.edu 37 17 14110404 14110404 + Silent SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:14110404C>T uc002gof.3 + 7 1410 c.1206C>T c.(1204-1206)GAC>GAT p.D402D COX10_uc010vvs.1_Silent_p.D185D|COX10_uc010vvt.1_Silent_p.D210D NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 402 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TCTACGTGGACGCAGACCGCA 0.632 NA 6 72 0 0 0.001984 0 0 NCOR1 9611 broad.mit.edu 37 17 15935793 15935793 + Silent SNP T T G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:15935793T>G uc002gpo.2 - 46 7380 c.7140A>C c.(7138-7140)TCA>TCC p.S2380S NCOR1_uc002gpn.2_Silent_p.S2277S|NCOR1_uc002gpl.2_Silent_p.S394S|NCOR1_uc002gpm.2_Silent_p.S899S|NCOR1_uc010vwb.1_Silent_p.S964S|NCOR1_uc010coy.2_Silent_p.S1288S NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2380 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GAAACTGAGTTGAGCCTGACA 0.428 NA 4 75 0 0 0.000602 0 0 MYO15A 51168 broad.mit.edu 37 17 18052870 18052870 + Silent SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:18052870C>T uc010vxh.1 + 34 7526 c.7188C>T c.(7186-7188)GAC>GAT p.D2396D NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2396 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GCCTCTTTGACCCTGTGCTGT 0.562 NA 5 60 0 0 0.000602 0 0 CYTSB 92521 broad.mit.edu 37 17 20013766 20013766 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:20013766G>A uc002gwq.2 + 3 319 c.174G>A c.(172-174)ACG>ACA p.T58T CYTSB_uc010cqx.2_Silent_p.T58T|CYTSB_uc002gwr.2_Silent_p.T58T|CYTSB_uc002gws.2_Silent_p.T58T NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 58 nucleus 0 GTGAGGACACGCTCAACAAGC 0.577 NA 4 91 0 0 0.009096 0 0 SPAG5 10615 broad.mit.edu 37 17 26905478 26905478 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:26905478G>A uc002hbq.2 - 21 3359 c.3267C>T c.(3265-3267)CTC>CTT p.L1089L ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 1089 Potential. cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) GGGCCTCCTGGAGCACTTTGG 0.577 NA 6 84 0 0 0.001984 0 0 NF1 4763 broad.mit.edu 37 17 29528174 29528174 + Silent SNP T T C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:29528174T>C uc002hgg.2 + 10 1515 c.1182T>C c.(1180-1182)TTT>TTC p.F394F NF1_uc002hge.1_Silent_p.F394F|NF1_uc002hgf.1_Silent_p.F394F|NF1_uc002hgh.2_Silent_p.F394F|NF1_uc010csn.1_Silent_p.F254F NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 394 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 p.?(2) 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) ACCAACACTTTAAGGTGAGAG 0.368 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) 12 62 0 0 0.013537 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262103 39262103 + Missense_Mutation SNP A A T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:39262103A>T uc010wfp.1 + 1 463 c.463A>T c.(463-465)AGC>TGC p.S155C NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 155 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament 0 ccccagctgcagcatctccag 0.124 NA 3 21 0 0 0.009096 0 0 STAT3 6774 broad.mit.edu 37 17 40490754 40490754 + Missense_Mutation SNP T T C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:40490754T>C uc002hzl.1 - 6 785 c.545A>G c.(544-546)CAA>CGA p.Q182R STAT3_uc002hzk.1_Missense_Mutation_p.Q182R|STAT3_uc002hzm.1_Missense_Mutation_p.Q182R|STAT3_uc010wgh.1_Missense_Mutation_p.Q84R|STAT3_uc002hzn.1_Missense_Mutation_p.Q182R NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 182 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CTTGCCTCCTTGACTCTTGAG 0.328 NA Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome 29 82 0 0 0.00632 0 0 PRKCA 5578 broad.mit.edu 37 17 64684503 64684503 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:64684503G>T uc002jfp.1 + 7 814 c.770G>T c.(769-771)GGA>GTA p.G257V PRKCA_uc002jfo.1_Missense_Mutation_p.G128V NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 257 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GACTTCATGGGATCCCTTTCC 0.468 NA 10 72 2.17888e-05 2.67253e-05 0.006214 1 0 C17orf58 284018 broad.mit.edu 37 17 65989196 65989196 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr17:65989196A>G uc002jgi.3 - 2 382 c.67T>C c.(67-69)TCC>CCC p.S23P C17orf58_uc002jgj.3_Missense_Mutation_p.S23P NM_181655 NP_858041 Q2M2W7 CQ058_HUMAN hypothetical protein LOC284018 isoform a 23 0 all_cancers(12;4.57e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) TTGCAGCTGGAGGAGTCCAGG 0.532 NA 3 74 0 0 0.004672 0 0 MOCOS 55034 broad.mit.edu 37 18 33785085 33785085 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr18:33785085A>G uc002kzq.3 + 6 1087 c.1064A>G c.(1063-1065)TAT>TGT p.Y355C NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 355 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) TTGGCTCAGTATACCTACGTG 0.478 NA 10 65 0 0 0.008291 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60241580 60241581 + Missense_Mutation DNP GT GT TC TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr18:60241580_60241581GT>TC uc002lip.3 + 13 2266_2267 c.2266_2267GT>TC c.(2266-2268)GTT>TCT p.V756S ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.V226S NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 756 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 TCCTAGTCCTGTTGCTATTTCT 0.485 NA 4 70 0 0 0.004672 0 0 ZNF407 55628 broad.mit.edu 37 18 72775115 72775115 + Missense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr18:72775115C>G uc002llw.2 + 8 5495 c.5438C>G c.(5437-5439)TCC>TGC p.S1813C NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1813 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGCATTGTTTCCAAGTCGTAC 0.557 NA 6 104 0 0 0.001984 0 0 ZNF236 7776 broad.mit.edu 37 18 74587576 74587576 + Nonsense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr18:74587576C>T uc002lmi.2 + 6 988 c.790C>T c.(790-792)CAG>TAG p.Q264* ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Nonsense_Mutation_p.Q264* NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 264 C2H2-type 8. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CGCCTTCTCTCAGAAAGGGAA 0.527 NA OREG0025069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 114 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9088564 9088564 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr19:9088564G>T uc002mkp.2 - 1 3455 c.3251C>A c.(3250-3252)CCA>CAA p.P1084Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1084 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGACTGAGATGGAGATACTGA 0.448 NA 14 61 0.000151284 0.000178584 0.001855 1 0 CCDC123 84902 broad.mit.edu 37 19 33424561 33424561 + Missense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr19:33424561C>T uc002nty.2 - 8 771 c.682G>A c.(682-684)GCA>ACA p.A228T CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.A228T|CCDC123_uc002nua.2_Missense_Mutation_p.A228T NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 228 centrosome|spindle pole 0 Esophageal squamous(110;0.137) CTTTGACGTGCTCTACCAGTT 0.328 NA 10 148 0 0 0.006214 0 0 CHST8 64377 broad.mit.edu 37 19 34263411 34263411 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr19:34263411G>A uc002nus.3 + 5 1223 c.718G>A c.(718-720)GAC>AAC p.D240N CHST8_uc002nut.3_Missense_Mutation_p.D240N|CHST8_uc002nuu.2_Missense_Mutation_p.D240N NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 240 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) GGACACCTTCGACCGCCAGGG 0.627 NA 5 134 0 0 0.000602 0 0 CYP2S1 29785 broad.mit.edu 37 19 41704794 41704794 + Splice_Site SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr19:41704794G>T uc002opw.2 + 5 889 c.834_splice c.e5+1 p.Q278_splice CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 GATGGCACAGGTGTGGGAAGG 0.627 NA 11 43 3.07112e-06 3.85732e-06 0.010729 1 0 PSG11 5680 broad.mit.edu 37 19 43523198 43523198 + Nonsense_Mutation SNP C C A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr19:43523198C>A uc002ovm.1 - 3 540 c.433G>T c.(433-435)GAG>TAG p.E145* PSG11_uc002ouw.2_Nonsense_Mutation_p.E151*|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Nonsense_Mutation_p.E151*|PSG11_uc002ovn.1_Nonsense_Mutation_p.E151*|PSG11_uc002ovo.1_Nonsense_Mutation_p.E23*|PSG11_uc002ovp.1_Nonsense_Mutation_p.E23* NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 145 female pregnancy extracellular region 0 Prostate(69;0.00682) TTGGGAGTCTCCACTGTGCAG 0.507 NA 31 301 3.90053e-15 5.51696e-15 0.012213 1 0 GRLF1 2909 broad.mit.edu 37 19 47422502 47422502 + Missense_Mutation SNP A A T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr19:47422502A>T uc010ekv.2 + 1 570 c.570A>T c.(568-570)AAA>AAT p.K190N NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 190 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) AGCTTGCAAAAACAAAAAAGC 0.418 NA 5 82 0 0 0.000602 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55333080 55333080 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr19:55333080G>A uc002qhk.3 + 5 779 c.716G>A c.(715-717)AGC>AAC p.S239N KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.S181N|KIR3DL1_uc010esf.2_Missense_Mutation_p.S144N|KIR3DL1_uc010yfo.1_Missense_Mutation_p.S181N|KIR3DL1_uc002qhl.3_Missense_Mutation_p.S239N NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 239 Extracellular (Potential).|Ig-like C2-type 3. immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) GCAGGAGAGAGCGTGACCTTG 0.587 NA 6 131 0 0 0.004482 0 0 KIR2DS4 3809 broad.mit.edu 37 19 55351078 55351078 + Nonsense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr19:55351078C>G uc002qhm.1 + 5 634 c.588C>G c.(586-588)TAC>TAG p.Y196* KIR2DS4_uc010yfj.1_Missense_Mutation_p.T182R|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.T189R|KIR2DS4_uc002qhn.1_Intron NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 196 Extracellular (Potential).|Ig-like C2-type 2. integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) GAGGGACCTACAGATGCTTCG 0.587 NA 7 298 0 0 0.001984 0 0 DCTN1 1639 broad.mit.edu 37 2 74605276 74605276 + Missense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr2:74605276C>G uc002skx.2 - 2 441 c.130G>C c.(130-132)GTG>CTG p.V44L DCTN1_uc002skw.1_Missense_Mutation_p.V27L|DCTN1_uc010ffd.2_Missense_Mutation_p.V44L|DCTN1_uc002sky.2_Missense_Mutation_p.V27L NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 44 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 ACATAGGCCACAGTGCCTCGG 0.582 NA 11 104 0 0 0.010729 0 0 TTL 150465 broad.mit.edu 37 2 113260740 113260740 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr2:113260740A>G uc002thu.2 + 5 1036 c.857A>G c.(856-858)CAA>CGA p.Q286R TTL_uc010fkm.1_RNA NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 286 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) ATCTTACTACAAATCAAACAT 0.209 NA T ETV6 ALL 9 67 0 0 0.004482 0 0 RBMS1 5937 broad.mit.edu 37 2 161223815 161223815 + Nonsense_Mutation SNP C C A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr2:161223815C>A uc002ubo.2 - 2 607 c.163G>T c.(163-165)GGA>TGA p.G55* RBMS1_uc002ubj.2_Nonsense_Mutation_p.G22*|RBMS1_uc002ubk.2_Nonsense_Mutation_p.G22*|RBMS1_uc002ubl.2_Nonsense_Mutation_p.G53*|RBMS1_uc002ubn.2_Nonsense_Mutation_p.G55*|RBMS1_uc002ubi.3_Nonsense_Mutation_p.G55*|RBMS1_uc002ubm.2_Nonsense_Mutation_p.G22*|RBMS1_uc002ubp.2_Nonsense_Mutation_p.G55*|RBMS1_uc010fox.2_Nonsense_Mutation_p.G55* NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 55 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 TGATCCCATCCTGAgttgcta 0.448 NA 11 107 3.86212e-05 4.62865e-05 0.008291 1 0 ITGA6 3655 broad.mit.edu 37 2 173344444 173344444 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr2:173344444G>A uc002uhp.1 + 10 1667 c.1464G>A c.(1462-1464)GCG>GCA p.A488A ITGA6_uc010zdy.1_Silent_p.A369A|ITGA6_uc002uho.1_Silent_p.A488A|ITGA6_uc010fqm.1_Silent_p.A134A NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 527 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AGAAAACAGCGTGTGGGGCGC 0.488 NA 26 208 0 0 0.003954 0 0 HOXD10 3236 broad.mit.edu 37 2 176983731 176983731 + Silent SNP T T C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr2:176983731T>C uc002ukj.2 + 2 865 c.795T>C c.(793-795)AGT>AGC p.S265S NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 265 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CTGCAAAGAGTGGCAGAAAGA 0.413 NA 5 69 0 0 0.001168 0 0 FRG1B 284802 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr20:29625885A>T uc010ztl.1 + 2 71 c.39A>T c.(37-39)AAA>AAT p.K13N FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 TCGCCCTGAAATCTGGCTATG 0.353 NA 5 100 0 0 0.00308 0 0 LAMA5 3911 broad.mit.edu 37 20 60904066 60904066 + Silent SNP G G C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr20:60904066G>C uc002ycq.2 - 34 4348 c.4281C>G c.(4279-4281)CTC>CTG p.L1427L NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1427 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAAGAGGGAGAGGGAAGCAG 0.652 NA 7 51 0 0 0.001984 0 0 TOM1 10043 broad.mit.edu 37 22 35728979 35728979 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr22:35728979A>G uc003ann.2 + 9 1030 c.905A>G c.(904-906)GAA>GGA p.E302G TOM1_uc011ami.1_Missense_Mutation_p.E269G|TOM1_uc011amj.1_Missense_Mutation_p.E145G|TOM1_uc003ans.2_Missense_Mutation_p.E145G|TOM1_uc011amk.1_Missense_Mutation_p.E264G|TOM1_uc003anp.2_Missense_Mutation_p.E302G|TOM1_uc011aml.1_Missense_Mutation_p.E257G|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.E296G|TOM1_uc003anr.2_Missense_Mutation_p.E145G NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 302 GAT. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 TGTAGGTTTGAACGGTTCCGA 0.438 NA 6 98 0 0 0.001984 0 0 EFCAB6 64800 broad.mit.edu 37 22 43996129 43996129 + Missense_Mutation SNP C C A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr22:43996129C>A uc003bdy.1 - 23 2911 c.2696G>T c.(2695-2697)GGA>GTA p.G899V EFCAB6_uc003bdz.1_Missense_Mutation_p.G747V|EFCAB6_uc010gzi.1_Missense_Mutation_p.G747V|EFCAB6_uc010gzj.1_Missense_Mutation_p.G125V NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 899 EF-hand 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) GTGCCCTTTTCCCTCGGTGTC 0.428 NA 24 99 5.35356e-11 7.18383e-11 0.00278 1 0 RFTN1 23180 broad.mit.edu 37 3 16411656 16411656 + Silent SNP T T C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr3:16411656T>C uc003cay.2 - 6 1239 c.957A>G c.(955-957)TTA>TTG p.L319L RFTN1_uc010hes.2_Silent_p.L283L NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 319 plasma membrane ovary(3)|central_nervous_system(1) 4 TCATGTGCTCTAACCAGTTGG 0.517 NA 29 170 0 0 0.009535 0 0 USP4 7375 broad.mit.edu 37 3 49335338 49335338 + Silent SNP A A T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr3:49335338A>T uc003cwq.2 - 13 1735 c.1656T>A c.(1654-1656)GGT>GGA p.G552G USP4_uc003cwo.2_Silent_p.G264G|USP4_uc003cwp.2_Silent_p.G282G|USP4_uc003cwr.2_Silent_p.G505G NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 552 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TGTGGTTTAAACCTTCATCCA 0.433 NA 8 47 0 0 0.004482 0 0 DNAH1 25981 broad.mit.edu 37 3 52416426 52416426 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr3:52416426G>A uc011bef.1 + 50 8157 c.7896G>A c.(7894-7896)GCG>GCA p.A2632A DNAH1_uc003ddv.2_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2632 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGCTCAAGGCGGGCCTACAGA 0.592 NA 16 134 0 0 0.003163 0 0 EPHA6 285220 broad.mit.edu 37 3 96533506 96533506 + Silent SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr3:96533506G>T uc010how.1 + 1 82 c.39G>T c.(37-39)CCG>CCT p.P13P EPHA6_uc003drp.1_Silent_p.P13P NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a Error:Variant_position_missing_in_Q9UF33_after_alignment integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GGAGCTCCCCGGCGCCGCAGG 0.721 NA 5 31 0.000602214 0.000695203 0.000602 1 0 CCDC14 64770 broad.mit.edu 37 3 123633720 123633720 + Missense_Mutation SNP C C A rs148584055 by1000genomes TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr3:123633720C>A uc011bjx.1 - 13 2859 c.2768G>T c.(2767-2769)CGT>CTT p.R923L CCDC14_uc003egv.3_Missense_Mutation_p.R564L|CCDC14_uc003egx.3_Missense_Mutation_p.R723L|CCDC14_uc010hrt.2_Missense_Mutation_p.R882L|CCDC14_uc003egy.3_Missense_Mutation_p.R723L|CCDC14_uc003egz.2_3'UTR NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 923 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) TTGTTCATCACGAGAAGTGAA 0.433 NA 5 28 0.00116845 0.00131033 0.001168 1 0 HTRA3 94031 broad.mit.edu 37 4 8307713 8307713 + Silent SNP T T C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr4:8307713T>C uc003gla.2 + 9 1416 c.1212T>C c.(1210-1212)GAT>GAC p.D404D NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 404 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 GCATCCAAGATGGTGACATCA 0.652 NA 4 73 0 0 0.001168 0 0 ENAM 10117 broad.mit.edu 37 4 71510435 71510435 + Missense_Mutation SNP G G C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr4:71510435G>C uc011caw.1 + 9 3573 c.3292G>C c.(3292-3294)GAG>CAG p.E1098Q NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 1098 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) CACATTGGTTGAGTTAGCTAC 0.428 NA 6 78 0 0 0.001168 0 0 Unknown 0 broad.mit.edu 37 4 88814431 88814431 + Missense_Mutation SNP A A T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr4:88814431A>T uc010iko.1 + 4 1058 c.1058A>T c.(1057-1059)CAG>CTG p.Q353L SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA; NA AAGGAGACACAGAAGTCCACC 0.522 NA 6 89 0 0 0.001168 0 0 TBCK 93627 broad.mit.edu 37 4 106967751 106967751 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr4:106967751G>A uc010ilv.2 - 26 3023 c.2658C>T c.(2656-2658)CTC>CTT p.L886L TBCK_uc003hyb.2_Silent_p.L629L|TBCK_uc003hye.2_Silent_p.L847L|TBCK_uc003hyc.2_Silent_p.L823L|TBCK_uc003hyd.2_Silent_p.L714L|TBCK_uc003hyf.2_Silent_p.L886L NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 886 Rhodanese. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 ATGGGATGGTGAGGAGGCCTG 0.423 NA 7 54 0 0 0.001984 0 0 RXFP1 59350 broad.mit.edu 37 4 159572994 159572994 + Silent SNP A A T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr4:159572994A>T uc003ipz.2 + 18 2143 c.2061A>T c.(2059-2061)CCA>CCT p.P687P RXFP1_uc011cja.1_Silent_p.P582P|RXFP1_uc010iqo.2_Silent_p.P639P|RXFP1_uc011cjb.1_Silent_p.P585P|RXFP1_uc010iqk.2_Silent_p.P555P|RXFP1_uc011cjc.1_Silent_p.P606P|RXFP1_uc011cjd.1_Silent_p.P606P|RXFP1_uc010iql.2_Silent_p.P531P|RXFP1_uc011cje.1_Silent_p.P714P|RXFP1_uc010iqm.2_Silent_p.P654P|RXFP1_uc011cjf.1_Silent_p.P556P|RXFP1_uc010iqn.2_Silent_p.P632P NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 687 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CCACAAGACCATTTAAAGAAA 0.363 NA 12 79 0 0 0.010729 0 0 CASP3 836 broad.mit.edu 37 4 185552921 185552921 + Nonsense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr4:185552921G>A uc003iwh.2 - 6 744 c.481C>T c.(481-483)CAG>TAG p.Q161* CASP3_uc003iwg.2_Nonsense_Mutation_p.Q161*|CASP3_uc003iwi.2_Nonsense_Mutation_p.Q161* NM_004346 NP_004337 P42574 CASP3_HUMAN caspase 3 preproprotein 161 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding kidney(1) 1 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) GACATTACCTGAATAATGAAA 0.338 NA 6 65 0 0 0.001984 0 0 TRIO 7204 broad.mit.edu 37 5 14387678 14387678 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr5:14387678G>A uc003jff.2 + 22 3708 c.3702G>A c.(3700-3702)CGG>CGA p.R1234R TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.R1185R|TRIO_uc003jfh.1_Silent_p.R883R NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1234 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TCTCTCTGCGGATGGAGAAGT 0.438 NA 4 131 0 0 0.009096 0 0 CDH10 1008 broad.mit.edu 37 5 24488011 24488011 + Missense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr5:24488011C>T uc003jgr.1 - 12 2460 c.2128G>A c.(2128-2130)GTC>ATC p.V710I CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 710 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AAATCCCGGACGTCCGTGTTA 0.468 NA HNSCC(23;0.051) 11 96 0 0 0.008291 0 0 CDH6 1004 broad.mit.edu 37 5 31316327 31316327 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr5:31316327A>G uc003jhe.1 + 9 1729 c.1403A>G c.(1402-1404)CAA>CGA p.Q468R CDH6_uc003jhd.1_Missense_Mutation_p.Q468R NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 468 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 AATCCAAAGCAAAGTAGTCGA 0.373 NA 7 64 0 0 0.00308 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772817 140772817 + Missense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr5:140772817C>T uc003lkd.1 + 1 1335 c.437C>T c.(436-438)GCG>GTG p.A146V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A146V NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 146 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGAAATCGCGGTTCCTGGA 0.448 NA 5 93 0 0 0.001168 0 0 KIF4B 285643 broad.mit.edu 37 5 154396603 154396603 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr5:154396603G>T uc010jih.1 + 1 3344 c.3184G>T c.(3184-3186)GGC>TGC p.G1062C NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1062 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) tgatggtgatggcgacagtga 0.383 NA 10 46 0.000442599 0.000514727 0.006214 1 0 HIVEP1 3096 broad.mit.edu 37 6 12125124 12125124 + Missense_Mutation SNP A A C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr6:12125124A>C uc003nac.2 + 4 5275 c.5096A>C c.(5095-5097)AAC>ACC p.N1699T HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1699 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCTTTGCCAAACCCAGAGAAG 0.368 NA 3 102 0 0 0.004672 0 0 RGL2 5863 broad.mit.edu 37 6 33260318 33260318 + Missense_Mutation SNP T T C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr6:33260318T>C uc003odv.2 - 17 2144 c.2011A>G c.(2011-2013)ACA>GCA p.T671A RGL2_uc003odu.2_Missense_Mutation_p.T231A|RGL2_uc010jur.2_Missense_Mutation_p.T231A|RGL2_uc003odw.2_Missense_Mutation_p.T589A NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 671 Ras-associating. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 TCCTGGCTTGTCACCTGGCAG 0.483 NA 9 88 0 0 0.004482 0 0 DST 667 broad.mit.edu 37 6 56504285 56504285 + Missense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr6:56504285C>G uc003pdf.2 - 20 2751 c.2723G>C c.(2722-2724)AGA>ACA p.R908T DST_uc003pcz.3_Missense_Mutation_p.R730T|DST_uc011dxj.1_Missense_Mutation_p.R759T|DST_uc011dxk.1_Missense_Mutation_p.R770T|DST_uc011dxl.1_Missense_Mutation_p.R759T|DST_uc003pcy.3_Missense_Mutation_p.R404T|DST_uc003pdb.2_Missense_Mutation_p.R404T|DST_uc003pdc.3_Missense_Mutation_p.R404T|DST_uc003pdd.3_Missense_Mutation_p.R404T|DST_uc003pde.2_Missense_Mutation_p.R846T NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 730 Spectrin 1. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTTGGTGTTTCTCTCACTCCA 0.353 NA 22 125 0 0 0.014323 0 0 LCA5 167691 broad.mit.edu 37 6 80198869 80198869 + Missense_Mutation SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr6:80198869C>G uc003pix.2 - 7 1598 c.1163G>C c.(1162-1164)AGA>ACA p.R388T LCA5_uc003piy.2_Missense_Mutation_p.R388T NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 388 protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TTTTTCTTCTCTTTCCATAAT 0.358 NA 17 89 0 0 0.004007 0 0 SMPD2 6610 broad.mit.edu 37 6 109764084 109764084 + Silent SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr6:109764084C>T uc003pti.2 + 7 1015 c.621C>T c.(619-621)TTC>TTT p.F207F PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank NM_003080 NP_003071 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral 207 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) CTCGGGACTTCAAGGTGAGGA 0.542 NA 15 79 0 0 0.003163 0 0 AKAP12 9590 broad.mit.edu 37 6 151673899 151673899 + Missense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr6:151673899C>T uc011eep.1 + 4 4613 c.4373C>T c.(4372-4374)TCT>TTT p.S1458F AKAP12_uc003qoe.2_Missense_Mutation_p.S1458F|AKAP12_uc003qof.2_Missense_Mutation_p.S1360F|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.S1353F NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1458 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GAGAAATCCTCTGAAAAAAAT 0.478 Melanoma(141;1616 1805 10049 24534 51979) NA 4 76 0 0 0.009096 0 0 THSD7A 221981 broad.mit.edu 37 7 11464415 11464415 + Nonsense_Mutation SNP G G C TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:11464415G>C uc003ssf.3 - 15 3543 c.3291C>G c.(3289-3291)TAC>TAG p.Y1097* NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1097 TSP type-1 11.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TGACCCATAGGTACTGGTTGC 0.512 NA HNSCC(18;0.044) 11 148 0 0 0.008291 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066750 18066750 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:18066750A>G uc003stz.2 - 1 737 c.656T>C c.(655-657)GTA>GCA p.V219A NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 219 Binding of phosphoribosylpyrophosphate (Potential). nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) CATGTCATCTACAAGGATAGC 0.448 NA 20 97 0 0 0.010504 0 0 FKBP9 11328 broad.mit.edu 37 7 33044805 33044805 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:33044805G>A uc003tdh.2 + 10 1736 c.1555G>A c.(1555-1557)GCC>ACC p.A519T AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.A572T|FKBP9_uc011kam.1_Missense_Mutation_p.A287T NM_007270 NP_009201 O95302 FKBP9_HUMAN FK506 binding protein 9 precursor 519 EF-hand 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|ovary(1) 14 GBM - Glioblastoma multiforme(11;0.0156) GTACATTCACGCCCAGGTGGC 0.537 NA 4 83 0 0 0.004482 0 0 POLD2 5425 broad.mit.edu 37 7 44157303 44157303 + Silent SNP T T A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:44157303T>A uc010kxz.2 - 5 1031 c.381A>T c.(379-381)ATA>ATT p.I127I POLD2_uc003tke.3_Silent_p.I127I|POLD2_uc010kya.2_Silent_p.I127I|POLD2_uc003tkf.3_Silent_p.I127I NM_006230 NP_006221 P49005 DPOD2_HUMAN DNA-directed DNA polymerase delta 2 127 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding ovary(2) 2 CATCTGGGTGTATGTATTTAC 0.522 NA 5 24 0 0 0.001168 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:55259515T>G uc003tqk.2 + 21 2819 c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537 L858R(NCIH1975_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 12 93 0 0 0.001855 0 0 FKBP9L 360132 broad.mit.edu 37 7 55750500 55750500 + Missense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:55750500C>T uc010kzl.2 - 6 704 c.604G>A c.(604-606)GCC>ACC p.A202T FKBP9L_uc010kzk.2_Missense_Mutation_p.A91T|FKBP9L_uc003tqt.2_Missense_Mutation_p.A91T|FKBP9L_uc011kcs.1_Missense_Mutation_p.A91T NR_003949 SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8); 0 GCCACCTGGGCGTGAATGTAC 0.532 NA 10 38 0 0 0.001855 0 0 TRIM56 81844 broad.mit.edu 37 7 100732051 100732051 + Silent SNP C C G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:100732051C>G uc003uxq.2 + 3 1689 c.1458C>G c.(1456-1458)GGC>GGG p.G486G TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 486 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) ACGGCTCTGGCCTCCTCCCCA 0.632 Ovarian(89;1092 1379 22756 38989 39611) NA 6 140 0 0 0.00308 0 0 LAMB1 3912 broad.mit.edu 37 7 107600230 107600230 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:107600230G>A uc003vew.2 - 19 2699 c.2364C>T c.(2362-2364)AAC>AAT p.N788N LAMB1_uc003vev.2_Silent_p.N812N|LAMB1_uc003vex.2_Silent_p.N788N NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 788 Laminin EGF-like 6. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGGCCTCCGTTGGGATCAC 0.562 NA 4 37 0 0 0.000602 0 0 UBN2 254048 broad.mit.edu 37 7 138943367 138943367 + Missense_Mutation SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr7:138943367C>T uc011kqr.1 + 4 797 c.797C>T c.(796-798)CCC>CTC p.P266L UBN2_uc003vuv.2_5'UTR NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 266 Lys-rich. ovary(1)|skin(1) 2 CACAAGCCACCCAAGGTGAGT 0.363 NA 4 50 0 0 0.009096 0 0 DLC1 10395 broad.mit.edu 37 8 13251147 13251148 + Missense_Mutation DNP CG CG AA TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr8:13251147_13251148CG>AA uc003wwm.2 - 4 1672_1673 c.1228_1229CG>TT c.(1228-1230)CGA>TTA p.R410L DLC1_uc003wwn.2_Missense_Mutation_p.R410L|DLC1_uc011kxy.1_Missense_Mutation_p.R410L NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 410 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CAAATTTACTCGTGTCTGATTT 0.421 NA 9 95 0 0 0.004672 0 0 CLVS1 157807 broad.mit.edu 37 8 62289213 62289213 + Silent SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr8:62289213C>T uc003xuh.2 + 3 829 c.505C>T c.(505-507)CTA>TTA p.L169L CLVS1_uc003xug.2_Silent_p.S167S|CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Silent_p.L169L NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 169 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 ATTGGAAGTCCTAATCGAAGA 0.443 NA 14 73 0 0 0.001855 0 0 CSMD3 114788 broad.mit.edu 37 8 113585738 113585738 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr8:113585738A>G uc003ynu.2 - 24 4193 c.4034T>C c.(4033-4035)GTG>GCG p.V1345A CSMD3_uc003yns.2_Missense_Mutation_p.V617A|CSMD3_uc003ynt.2_Missense_Mutation_p.V1305A|CSMD3_uc011lhx.1_Missense_Mutation_p.V1241A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1345 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACTGGTATACACAAGTTGAAA 0.368 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 64 0 0 0.008291 0 0 KLHL38 340359 broad.mit.edu 37 8 124664241 124664241 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr8:124664241G>T uc003yqs.1 - 1 950 c.926C>A c.(925-927)ACC>AAC p.T309N NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 309 Kelch 1. 0 CCATTGGCCGGTCTGTTTGCT 0.577 NA 8 60 0.00307968 0.00342915 0.00308 1 0 RABEPK 10244 broad.mit.edu 37 9 127969979 127969979 + Missense_Mutation SNP G G T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr9:127969979G>T uc004bpi.2 + 4 363 c.190G>T c.(190-192)GAC>TAC p.D64Y RABEPK_uc004bph.1_Missense_Mutation_p.D64Y|RABEPK_uc004bpj.2_Missense_Mutation_p.D64Y|RABEPK_uc004bpk.2_Missense_Mutation_p.D64Y|RABEPK_uc004bpl.1_Missense_Mutation_p.D64Y|RABEPK_uc004bpm.2_Missense_Mutation_p.D64Y NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 64 Kelch 1. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 AAGCTTCTCAGACGTGCACAC 0.522 NA 29 104 3.73148e-12 5.13896e-12 0.007291 1 0 SETX 23064 broad.mit.edu 37 9 135205442 135205442 + Missense_Mutation SNP T T G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr9:135205442T>G uc004cbk.2 - 10 1726 c.1543A>C c.(1543-1545)ACA>CCA p.T515P SETX_uc004cbj.2_Missense_Mutation_p.T134P|SETX_uc010mzt.2_Missense_Mutation_p.T134P NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 515 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ATCATTGCTGTTCCTTTGGAG 0.438 NA 14 156 0 0 0.00245 0 0 ZFX 7543 broad.mit.edu 37 X 24228471 24228471 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chrX:24228471A>G uc004dbf.2 + 9 1654 c.1396A>G c.(1396-1398)AAC>GAC p.N466D ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Missense_Mutation_p.N505D|ZFX_uc010nfz.2_Missense_Mutation_p.N122D NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 466 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 TTACACTACCAACAAGAAGAT 0.448 Esophageal Squamous(20;306 562 7346 32868 37983) NA 15 80 0 0 0.003163 0 0 ATRX 546 broad.mit.edu 37 X 76776888 76776888 + Missense_Mutation SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chrX:76776888G>A uc004ecp.3 - 33 7296 c.7064C>T c.(7063-7065)TCA>TTA p.S2355L ATRX_uc004ecq.3_Missense_Mutation_p.S2317L|ATRX_uc004eco.3_Missense_Mutation_p.S2140L NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2355 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TACTACAGCTGAAATTATATC 0.373 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 4 81 0 0 0.000602 0 0 COL4A5 1287 broad.mit.edu 37 X 107911555 107911555 + Missense_Mutation SNP A A G TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chrX:107911555A>G uc004enz.1 + 41 3813 c.3611A>G c.(3610-3612)AAG>AGG p.K1204R COL4A5_uc011mso.1_Missense_Mutation_p.K1204R NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1204 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 ATAGGCCAAAAGGGTGATGGA 0.448 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 3 63 0 0 0.009096 0 0 SPANXN1 494118 broad.mit.edu 37 X 144337280 144337280 + Silent SNP C C T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chrX:144337280C>T uc004fcb.2 + 2 165 c.165C>T c.(163-165)TGC>TGT p.C55C NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 55 0 Acute lymphoblastic leukemia(192;6.56e-05) TAGCGTTTTGCTACAGGAAAG 0.433 NA 13 141 0 0 0.001855 0 0 OR6C65 403282 broad.mit.edu 37 12 55794772 55794773 + Frame_Shift_Ins INS - - T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr12:55794772_55794773insT uc010spl.1 + 1 460_461 c.460_461insT c.(460-462)ATTfs p.I154fs NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTTTCTCATTATTTTTCCCCCC 0.436 NA 7 313 --- --- --- --- NA NA NA NA NA MYL1 4632 broad.mit.edu 37 2 211179668 211179668 + Frame_Shift_Del DEL G G - TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8120c5eb-2917-4053-a5e5-aad53ff45da9 46fde1ad-2cea-483b-ae64-f1226a732b9a g.chr2:211179668delG uc002vec.2 - 1 228 c.99delC c.(97-99)CCCfs p.P33fs NM_079420 NP_524144 P05976 MYL1_HUMAN fast skeletal myosin alkali light chain 1 33 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle ovary(1) 1 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) TTTCTTCTTTGGGTTTggctg 0.323 NA 39 314 --- --- --- --- NA NA NA NA NA