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 MST1P9 11223 broad.mit.edu 37 1 17084510 17084510 + Silent SNP G G A rs61769731 by1000genomes TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:17084510G>A uc010ock.1 - 12 1588 c.1588C>T c.(1588-1590)CTA>TTA p.L530L CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Silent_p.L130L NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 ACCCGCTGTAGGCCTGGCTCT 0.577 NA 14 147 0 0 0.001855 0 0 MST1P9 11223 broad.mit.edu 37 1 17085865 17085865 + Missense_Mutation SNP A A G rs1057378 by1000genomes TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:17085865A>G uc010ock.1 - 8 956 c.956T>C c.(955-957)CTC>CCC p.L319P CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TGAGCCGTCGAGGTTCCAGCA 0.667 NA 4 27 0 0 0.001168 0 0 MST1P9 11223 broad.mit.edu 37 1 17085872 17085872 + Missense_Mutation SNP A A G rs1806514 by1000genomes TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:17085872A>G uc010ock.1 - 8 949 c.949T>C c.(949-951)TGG>CGG p.W317R CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TCGAGGTTCCAGCAGAAGTTC 0.662 NA 4 28 0 0 0.001168 0 0 NR0B2 8431 broad.mit.edu 37 1 27238432 27238432 + Silent SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:27238432G>A uc001bnf.2 - 2 814 c.678C>T c.(676-678)TCC>TCT p.S226S NM_021969 NP_068804 Q15466 NR0B2_HUMAN short heterodimer partner 226 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) TGGTCGGAATGGACTTGAGGG 0.602 NA 73 181 0 0 0.00361 0 0 SFRS4 6429 broad.mit.edu 37 1 29481238 29481238 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:29481238C>A uc001bro.2 - 4 921 c.548G>T c.(547-549)CGG>CTG p.R183L SFRS4_uc010ofy.1_Intron|SFRS4_uc009vtp.2_RNA NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 183 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding 0 Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151) Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138) GGAGTAGGACCGGCGTCGTCT 0.398 NA 29 73 6.00712e-18 1.51523e-17 0.002445 1 0 CYP4B1 1580 broad.mit.edu 37 1 47276491 47276491 + Silent SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:47276491G>A uc001cqm.3 + 2 276 c.192G>A c.(190-192)ACG>ACA p.T64T CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqn.3_Silent_p.T64T|CYP4B1_uc009vym.2_Silent_p.T64T|CYP4B1_uc010omk.1_Intron|CYP4B1_uc010oml.1_5'Flank NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 64 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) TCCAGGAGACGGGGAGCCTGG 0.577 NA 38 78 0 0 0.007835 0 0 RAB3B 5865 broad.mit.edu 37 1 52403001 52403001 + Silent SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:52403001G>T uc001cth.2 - 3 437 c.312C>A c.(310-312)ATC>ATA p.I104I NM_002867 NP_002858 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 104 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1) 1 CTTCATTGGTGATGTCATACA 0.388 NA 82 160 1.26458e-31 3.59184e-31 0.00361 1 0 GDAP2 54834 broad.mit.edu 37 1 118454705 118454705 + Splice_Site SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:118454705C>T uc001ehf.2 - 5 770 c.471_splice c.e5-1 p.K157_splice GDAP2_uc001ehg.2_Splice_Site_p.K157_splice NM_017686 NP_060156 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated ovary(2) 2 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) TGACTGCTCTCTGCAACAAAG 0.353 NA 12 39 0 0 0.001855 0 0 OR6N2 81442 broad.mit.edu 37 1 158746799 158746799 + Silent SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:158746799G>T uc010pir.1 - 1 627 c.627C>A c.(625-627)ATC>ATA p.I209I NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) AGAAGAAAGTGATAAGAATTA 0.408 NA 16 74 4.75885e-15 1.13274e-14 0.00499 1 0 TNR 7143 broad.mit.edu 37 1 175334271 175334271 + Missense_Mutation SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:175334271G>A uc001gkp.1 - 10 2543 c.2462C>T c.(2461-2463)TCC>TTC p.S821F TNR_uc009wwu.1_Missense_Mutation_p.S821F NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 821 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GGCATCCAGGGAGACCTCCAT 0.537 NA 19 175 0 0 0.008871 0 0 XPR1 9213 broad.mit.edu 37 1 180775265 180775265 + Missense_Mutation SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:180775265G>A uc001goi.2 + 5 707 c.515G>A c.(514-516)GGA>GAA p.G172E XPR1_uc009wxm.2_Missense_Mutation_p.G172E|XPR1_uc009wxn.2_Missense_Mutation_p.G172E NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 172 SPX.|Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 ACATCTCGTGGAGCAGATTGG 0.388 NA 32 112 0 0 0.001786 0 0 GLT25D2 23127 broad.mit.edu 37 1 183947644 183947644 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:183947644C>A uc001gqr.2 - 2 646 c.274G>T c.(274-276)GAT>TAT p.D92Y GLT25D2_uc010poj.1_Missense_Mutation_p.D92Y|GLT25D2_uc001gqs.2_5'UTR NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 92 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 ACATTGTGATCAGTGGCTGCC 0.408 Esophageal Squamous(10;42 606 18489 38825) NA 38 129 3.76114e-14 8.82822e-14 0.004289 1 0 IVNS1ABP 10625 broad.mit.edu 37 1 185270131 185270131 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:185270131C>G uc001grl.2 - 10 1716 c.1093G>C c.(1093-1095)GAG>CAG p.E365Q IVNS1ABP_uc001gri.2_Missense_Mutation_p.E25Q|IVNS1ABP_uc001grj.2_Missense_Mutation_p.E25Q|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.E147Q|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.E25Q NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 365 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 CCATTCATCTCTGCTGTTCCC 0.423 NA 39 157 0 0 0.002522 0 0 OR2L1P 26247 broad.mit.edu 37 1 248153914 248153914 + Silent SNP A A G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:248153914A>G uc001idv.1 + 1 346 c.102A>G c.(100-102)ACA>ACG p.T34T OR2L13_uc001ids.2_Intron NR_002145 RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53; 0 TGCTCCTGACATCAATGGCCT 0.443 NA 58 168 0 0 0.00361 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702244 27702244 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr10:27702244C>A uc001itu.2 - 1 1054 c.936G>T c.(934-936)ATG>ATT p.M312I NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 312 Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTAACTGGCCCATTCCTAGGC 0.602 NA 51 141 2.74695e-27 7.54854e-27 0.00361 1 0 ASAH2 56624 broad.mit.edu 37 10 51978297 51978297 + Silent SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr10:51978297C>T uc001jjd.2 - 7 987 c.987G>A c.(985-987)GAG>GAA p.E329E ASAH2_uc009xos.2_Silent_p.E329E NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 329 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 CTTTGTTCTTCTCTTGCTCAA 0.423 NA 35 106 0 0 0.00361 0 0 MBL2 4153 broad.mit.edu 37 10 54531287 54531287 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr10:54531287C>A uc001jjt.2 - 1 174 c.109G>T c.(109-111)GCC>TCC p.A37S NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 37 Cys-rich. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 GAGCTACAGGCAATCACTGCA 0.552 NA 45 74 1.51926e-22 4.04337e-22 0.00361 1 0 SORCS1 114815 broad.mit.edu 37 10 108536324 108536324 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr10:108536324C>T uc001kym.2 - 4 861 c.853G>A c.(853-855)GAC>AAC p.D285N SORCS1_uc001kyl.2_Missense_Mutation_p.D285N|SORCS1_uc009xxs.2_Missense_Mutation_p.D285N|SORCS1_uc001kyn.1_Missense_Mutation_p.D285N|SORCS1_uc001kyo.2_Missense_Mutation_p.D285N NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 285 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGAATCCAGTCTTCTTGTTTG 0.413 NA 61 145 0 0 0.00361 0 0 SORCS1 114815 broad.mit.edu 37 10 108923969 108923969 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr10:108923969C>A uc001kym.2 - 1 324 c.316G>T c.(316-318)GGC>TGC p.G106C SORCS1_uc001kyl.2_Missense_Mutation_p.G106C|SORCS1_uc009xxs.2_Missense_Mutation_p.G106C|SORCS1_uc001kyn.1_Missense_Mutation_p.G106C|SORCS1_uc001kyo.2_Missense_Mutation_p.G106C NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 106 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTCCTCCGGCCGGAGCGTGCA 0.701 NA 21 29 1.96292e-10 4.48289e-10 0.001523 1 0 ADAM12 8038 broad.mit.edu 37 10 127705850 127705850 + Nonstop_Mutation SNP A A T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr10:127705850A>T uc001ljk.2 - 23 3141 c.2728T>A c.(2728-2730)TGA>AGA p.*910R ADAM12_uc010qul.1_Nonstop_Mutation_p.*861R|ADAM12_uc001ljj.1_5'Flank NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 910 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TCGGCTTCTCACTTAATATAG 0.403 NA 10 15 0 0 0.000978 0 0 OR51S1 119692 broad.mit.edu 37 11 4870118 4870118 + Silent SNP T T A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr11:4870118T>A uc010qyo.1 - 1 321 c.321A>T c.(319-321)CTA>CTT p.L107L NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 107 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AAACCATCTGTAGAAGGCAGG 0.542 NA 62 112 0 0 0.00361 0 0 OR52N2 390077 broad.mit.edu 37 11 5842289 5842289 + Missense_Mutation SNP A A G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr11:5842289A>G uc010qzp.1 + 1 724 c.724A>G c.(724-726)ACC>GCC p.T242A TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCCTTCAGCACCTGCACATC 0.418 NA 41 116 0 0 0.00361 0 0 APIP 51074 broad.mit.edu 37 11 34904943 34904943 + Silent SNP T T A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr11:34904943T>A uc001mvs.2 - 6 678 c.570A>T c.(568-570)GTA>GTT p.V190V APIP_uc010reo.1_Silent_p.V207V NM_015957 NP_057041 Q96GX9 MTNB_HUMAN APAF1 interacting protein 190 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity 0 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) GTCTGACCAGTACTGCACAGG 0.448 NA 99 212 0 0 0.00361 0 0 SPTBN2 6712 broad.mit.edu 37 11 66455642 66455642 + Silent SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr11:66455642G>A uc001ojd.2 - 31 6444 c.6372C>T c.(6370-6372)GAC>GAT p.D2124D SPTBN2_uc001ojc.1_5'Flank NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2124 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GCTCTCACCCGTCCCAGGTGG 0.637 NA 15 47 0 0 0.00245 0 0 ING4 51147 broad.mit.edu 37 12 6761453 6761453 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr12:6761453C>A uc001qpw.3 - 6 673 c.632G>T c.(631-633)GGC>GTC p.G211V ING4_uc001qpv.3_Missense_Mutation_p.G210V|ING4_uc001qpy.3_Missense_Mutation_p.G207V|ING4_uc001qpx.3_Missense_Mutation_p.G208V|ING4_uc009zes.2_Intron|ING4_uc009zet.2_Missense_Mutation_p.G187V|ING4_uc009zeu.2_RNA|ING4_uc009zev.2_RNA NM_001127582 NP_001121054 Q9UNL4 ING4_HUMAN inhibitor of growth family, member 4 isoform 9 211 PHD-type. apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis histone acetyltransferase complex protein binding|transcription coactivator activity|zinc ion binding central_nervous_system(3)|ovary(1) 4 GTTGTCACAGCCAATCATCTC 0.507 NA 51 110 3.39706e-21 8.90081e-21 0.00361 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 20 0.00448238 0.00958889 0.004482 1 0 ARID2 196528 broad.mit.edu 37 12 46230571 46230571 + Nonsense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr12:46230571C>T uc001ros.1 + 8 820 c.820C>T c.(820-822)CGA>TGA p.R274* ARID2_uc001ror.2_Nonsense_Mutation_p.R274*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 274 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCATCCACCTCGAAAGCTGGG 0.363 NA 30 43 0 0 0.002445 0 0 SENP1 29843 broad.mit.edu 37 12 48457499 48457499 + Silent SNP A A G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr12:48457499A>G uc001rqx.2 - 13 1847 c.1401T>C c.(1399-1401)AAT>AAC p.N467N SENP1_uc001rqw.2_Silent_p.N467N|SENP1_uc001rqy.2_Silent_p.N268N|SENP1_uc001rqz.2_Silent_p.N268N|SENP1_uc009zkx.2_Silent_p.N467N NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 467 Protease. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TTACCTCATCATTGAGCCAAT 0.308 NA 28 76 0 0 0.00632 0 0 ACTN1 87 broad.mit.edu 37 14 69378902 69378902 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr14:69378902C>A uc001xkl.2 - 4 708 c.398G>T c.(397-399)CGC>CTC p.R133L ACTN1_uc010ttb.1_Missense_Mutation_p.R68L|ACTN1_uc001xkm.2_Missense_Mutation_p.R133L|ACTN1_uc001xkn.2_Missense_Mutation_p.R133L|ACTN1_uc001xko.1_Missense_Mutation_p.R68L|ACTN1_uc010ttd.1_Missense_Mutation_p.R112L NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 133 CH 1.|Actin-binding. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GATGGCAAAGCGCAGGATGAT 0.552 NA OREG0022758 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 151 1.95512e-22 5.16274e-22 0.00361 1 0 CPSF2 53981 broad.mit.edu 37 14 92625582 92625582 + Nonsense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr14:92625582G>T uc001yah.1 + 14 2314 c.2077G>T c.(2077-2079)GAA>TAA p.E693* NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 693 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) AACAGGTGAAGAAAGTGAGAT 0.403 Ovarian(78;28 1788 18702 44111) NA 18 77 2.39187e-15 5.73371e-15 0.008871 1 0 KIAA1409 57578 broad.mit.edu 37 14 94107507 94107507 + Silent SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr14:94107507C>T uc001ybv.1 + 32 5552 c.5469C>T c.(5467-5469)AGC>AGT p.S1823S KIAA1409_uc001ybs.1_Silent_p.S1801S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1978 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CCAAATCCAGCCTGCTATCAG 0.522 NA 10 30 0 0 0.008291 0 0 NIPA1 123606 broad.mit.edu 37 15 23048975 23048975 + Nonsense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr15:23048975C>A uc001yvc.2 - 5 869 c.844G>T c.(844-846)GAG>TAG p.E282* NIPA1_uc001yvd.2_Nonsense_Mutation_p.E112*|NIPA1_uc001yve.2_Nonsense_Mutation_p.E207* NM_144599 NP_653200 Q7RTP0 NIPA1_HUMAN non-imprinted in Prader-Willi/Angelman syndrome 282 Extracellular (Potential). cell death early endosome|integral to membrane|plasma membrane 0 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) TTGCTCCACTCCCGGAAGAGG 0.577 NA 15 21 4.14922e-12 9.60572e-12 0.004007 1 0 C15orf2 23742 broad.mit.edu 37 15 24923547 24923547 + Nonsense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr15:24923547G>T uc001ywo.2 + 1 3007 c.2533G>T c.(2533-2535)GAG>TAG p.E845* NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 845 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTCCAGGAAGGAGGAGTACAT 0.498 NA 59 124 1.73933e-33 5.06804e-33 0.00361 1 0 CTDSPL2 51496 broad.mit.edu 37 15 44789292 44789292 + Silent SNP T T C TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr15:44789292T>C uc001ztr.2 + 7 1254 c.838T>C c.(838-840)TTG>CTG p.L280L CTDSPL2_uc001zts.2_Silent_p.L280L|CTDSPL2_uc001ztt.2_Silent_p.L280L|CTDSPL2_uc010bdv.2_Silent_p.L208L NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 280 phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) TGCTCTTCCGTTGAAAACAAG 0.343 NA 24 73 0 0 0.00632 0 0 UNC13C 440279 broad.mit.edu 37 15 54307911 54307911 + Silent SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr15:54307911C>G uc002ack.2 + 1 2811 c.2811C>G c.(2809-2811)CCC>CCG p.P937P NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 937 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGTTAGAACCCTTAAATGAAA 0.403 NA 30 53 0 0 0.00632 0 0 EFTUD1 79631 broad.mit.edu 37 15 82533632 82533632 + Silent SNP A A T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr15:82533632A>T uc002bgt.1 - 5 526 c.357T>A c.(355-357)GCT>GCA p.A119A EFTUD1_uc002bgu.1_Silent_p.A68A NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 119 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 CTCCTTCCACAGCATCTACCA 0.443 NA 31 74 0 0 0.002836 0 0 AGBL1 123624 broad.mit.edu 37 15 86800211 86800211 + Missense_Mutation SNP G G C TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr15:86800211G>C uc002blz.1 + 7 805 c.725G>C c.(724-726)GGG>GCG p.G242A NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 242 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 CCGGTCCCCGGGTGCATCACC 0.502 NA 21 40 0 0 0.00278 0 0 LRRK1 79705 broad.mit.edu 37 15 101608898 101608898 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr15:101608898G>T uc002bwr.2 + 34 6212 c.5893G>T c.(5893-5895)GTG>TTG p.V1965L LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1965 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGCTGCCGTGGTGGCAAAGGA 0.597 NA 57 116 6.26901e-30 1.76577e-29 0.00361 1 0 GNG13 51764 broad.mit.edu 37 16 849011 849012 + Missense_Mutation DNP GG GG TT TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr16:849011_849012GG>TT uc002ckh.3 - 2 168_169 c.66_67CC>AA c.(64-69)TTCCAG>TTAAAG p.22_23FQ>LK NM_016541 NP_057625 Q9P2W3 GBG13_HUMAN guanine nucleotide binding protein (G protein), 22_23 cellular response to glucagon stimulus|energy reserve metabolic process signal transducer activity 0 Hepatocellular(780;0.00335) ATCTCCCGCTGGAAGGCCAGCT 0.609 NA 9 34 0 0 0.004672 0 0 SRRM2 23524 broad.mit.edu 37 16 2814911 2814911 + Missense_Mutation SNP G G T rs149555495 byFrequency TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr16:2814911G>T uc002crk.2 + 11 4931 c.4382G>T c.(4381-4383)GGG>GTG p.G1461V SRRM2_uc002crj.1_Missense_Mutation_p.G1365V|SRRM2_uc002crl.1_Missense_Mutation_p.G1461V|SRRM2_uc010bsu.1_Missense_Mutation_p.G1365V NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1461 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 AGCCTGTCTGGGTCCTCTCCT 0.517 NA 68 149 7.93275e-45 2.41556e-44 0.00361 1 0 CORO7 79585 broad.mit.edu 37 16 4408035 4408035 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr16:4408035C>A uc002cwh.3 - 25 2647 c.2527G>T c.(2527-2529)GCC>TCC p.A843S CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.A843S|CORO7_uc002cwg.3_Missense_Mutation_p.A623S|CORO7_uc010uxh.1_Missense_Mutation_p.A825S|CORO7_uc010uxi.1_Missense_Mutation_p.A758S|CORO7_uc002cwi.1_3'UTR NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 843 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 TGCAGCCAGGCCTCGGCACTG 0.627 NA 32 84 5.90632e-09 1.31338e-08 0.002445 1 0 MLKL 197259 broad.mit.edu 37 16 74709626 74709626 + Missense_Mutation SNP T T A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr16:74709626T>A uc002fdb.2 - 8 1516 c.1075A>T c.(1075-1077)ATG>TTG p.M359L MLKL_uc002fdc.2_Intron NM_152649 NP_689862 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like isoform 1 359 Protein kinase. ATP binding|protein binding|protein kinase activity stomach(2) 2 CCCAAACTCATGGAAGTCTGT 0.408 NA 38 94 0 0 0.005524 0 0 KIAA1609 57707 broad.mit.edu 37 16 84520279 84520279 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr16:84520279C>A uc002fib.2 - 5 1023 c.916G>T c.(916-918)GGG>TGG p.G306W KIAA1609_uc010vod.1_Missense_Mutation_p.G279W|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 306 TLD. protein binding ovary(2) 2 GAGGCAAACCCACCGAACACA 0.567 NA 23 93 1.85244e-09 4.17417e-09 0.00333 1 0 SHPK 23729 broad.mit.edu 37 17 3539511 3539511 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr17:3539511C>T uc002fvz.1 - 1 106 c.3G>A c.(1-3)ATG>ATA p.M1I CTNS_uc002fwa.2_5'Flank|CTNS_uc002fwb.2_5'Flank|CTNS_uc010ckj.2_5'Flank|CTNS_uc010vrv.1_5'Flank|CTNS_uc010vrw.1_5'Flank NM_013276 NP_037408 Q9UHJ6 SHPK_HUMAN carbohydrate kinase-like 1 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity ovary(1) 1 COAD - Colon adenocarcinoma(5;0.0828) GCCGCGCAGCCATTATCTCCC 0.711 NA 17 51 0 0 0.006122 0 0 PIK3R6 146850 broad.mit.edu 37 17 8736345 8736345 + Silent SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr17:8736345G>T uc002glq.1 - 9 903 c.663C>A c.(661-663)ACC>ACA p.T221T PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_Intron NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 221 platelet activation cytosol 0 AGTGCTCCAGGGTGCGGCGAG 0.692 NA 11 25 4.68919e-08 1.02919e-07 0.008291 1 0 SOX9 6662 broad.mit.edu 37 17 70117604 70117604 + Silent SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr17:70117604C>G uc002jiw.2 + 1 444 c.72C>G c.(70-72)CCC>CCG p.P24P uc002jiv.2_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 24 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CCCCCAGCCCCACCATGTCCG 0.711 Pancreas(42;83 1041 2320 35205 39456) NA 10 44 0 0 0.000978 0 0 KLHL14 57565 broad.mit.edu 37 18 30257294 30257294 + Splice_Site SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr18:30257294C>G uc002kxm.1 - 8 1977 c.1589_splice c.e8-1 p.G530_splice KLHL14_uc010dmd.1_Splice_Site_p.G79_splice NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 cytosol|endoplasmic reticulum membrane ovary(1) 1 TGGGAGAAACCTAAGTGACAG 0.423 NA 17 47 0 0 0.004007 0 0 SETBP1 26040 broad.mit.edu 37 18 42531491 42531492 + Missense_Mutation DNP GG GG TT TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr18:42531491_42531492GG>TT uc010dni.2 + 4 2482_2483 c.2186_2187GG>TT c.(2185-2187)AGG>ATT p.R729I NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 729 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGCGGGGCAGGAAGCCAAGAG 0.574 NA Schinzel-Giedion_syndrome 21 53 0 0 0.004672 0 0 MYO5B 4645 broad.mit.edu 37 18 47364056 47364056 + Missense_Mutation SNP T T C rs75537257 TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr18:47364056T>C uc002leb.2 - 37 5257 c.4969A>G c.(4969-4971)ATC>GTC p.I1657V MYO5B_uc002ldz.2_Missense_Mutation_p.I227V|MYO5B_uc002lea.2_Missense_Mutation_p.I772V NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1657 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) TGGCGGATGATAGCTTCCAGG 0.507 NA 47 84 0 0 0.003214 0 0 STK11 6794 broad.mit.edu 37 19 1221946 1221946 + Splice_Site SNP A A T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:1221946A>T uc002lrl.1 + 7 1978 c.863_splice c.e7-2 p.G288_splice NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCTCCTCAGGGATGCTTG 0.677 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 4 0 0 0 0.000602 0 0 SLC25A23 79085 broad.mit.edu 37 19 6457519 6457519 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:6457519C>A uc002mex.1 - 3 508 c.366G>T c.(364-366)TTG>TTT p.L122F SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_5'Flank NM_024103 NP_077008 Q9BV35 SCMC3_HUMAN solute carrier family 25, member 23 122 EF-hand 3.|Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1)|pancreas(1) 2 CTCACCTGTGCAAAATTTTCT 0.562 NA 25 36 2.70662e-09 6.05853e-09 0.001786 1 0 KEAP1 9817 broad.mit.edu 37 19 10610235 10610235 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:10610235C>G uc002moq.1 - 2 631 c.475G>C c.(475-477)GCT>CCT p.A159P KEAP1_uc002mor.1_Missense_Mutation_p.A159P NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TACATGACAGCACCGTTCATG 0.582 NA 37 51 0 0 0.006999 0 0 CILP2 148113 broad.mit.edu 37 19 19655215 19655215 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:19655215G>T uc002nmv.3 + 8 1946 c.1861G>T c.(1861-1863)GCC>TCC p.A621S CILP2_uc002nmw.3_Missense_Mutation_p.A627S NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 621 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GGCGGCGTCTGCCCCCAGTGA 0.701 NA 53 74 1.46156e-29 4.0827e-29 0.00361 1 0 PSG4 5672 broad.mit.edu 37 19 43708259 43708259 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:43708259C>G uc002ovy.2 - 2 311 c.209G>C c.(208-210)GGG>GCG p.G70A PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.G70A|PSG4_uc002ovz.2_Missense_Mutation_p.G70A NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 70 Ig-like V-type. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) TGTCATTTGCCCTTTGTACCA 0.423 NA 135 106 0 0 0.00361 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461674 50461674 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:50461674G>T uc010ybh.1 - 8 1608 c.1517C>A c.(1516-1518)ACC>AAC p.T506N SIGLEC11_uc010ybi.1_Intron NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 506 Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TGAGCTGGGGGTGACCTCGAA 0.701 NA 16 35 3.41278e-10 7.74175e-10 0.00499 1 0 ZNF677 342926 broad.mit.edu 37 19 53747009 53747009 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:53747009G>T uc002qbf.1 - 4 342 c.157C>A c.(157-159)CCT>ACT p.P53T ZNF677_uc002qbg.1_Missense_Mutation_p.P53T|ZNF677_uc002qbh.2_RNA NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 53 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) TCTTCTGGAGGGATGTTATCC 0.507 NA 55 131 1.82294e-38 5.45269e-38 0.00361 1 0 MYADM 91663 broad.mit.edu 37 19 54377408 54377408 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:54377408G>T uc002qcl.2 + 3 773 c.625G>T c.(625-627)GTG>TTG p.V209L MYADM_uc002qcm.2_Missense_Mutation_p.V209L|MYADM_uc002qcn.2_Missense_Mutation_p.V209L|MYADM_uc002qco.2_Missense_Mutation_p.V209L|MYADM_uc002qcp.2_Missense_Mutation_p.V209L NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 209 MARVEL 2.|Helical; (Potential). integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GTGCGTGGCGGTGTACGCCAT 0.627 NA 84 205 1.16668e-32 3.3704e-32 0.00361 1 0 LILRA6 79168 broad.mit.edu 37 19 54745554 54745554 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:54745554C>T uc002qeu.1 - 4 680 c.556G>A c.(556-558)GTG>ATG p.V186M LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Missense_Mutation_p.V186M|LILRA6_uc002qek.1_Missense_Mutation_p.V186M|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.V186M|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.V186M|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.V186M|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.V186M|LILRA6_uc010yep.1_Missense_Mutation_p.V186M|LILRA6_uc010yeq.1_Missense_Mutation_p.V186M|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.V47M NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 186 Extracellular (Potential). integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGGGGGTCACGGGGCCCACA 0.602 NA 32 91 0 0 0.002852 0 0 LILRA5 353514 broad.mit.edu 37 19 54823398 54823398 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:54823398G>T uc002qfe.2 - 4 265 c.145C>A c.(145-147)CTC>ATC p.L49I LILRA5_uc002qff.2_Missense_Mutation_p.L37I|LILRA5_uc010yev.1_Missense_Mutation_p.L49I|LILRA5_uc010yew.1_Missense_Mutation_p.L37I|LILRA5_uc002qfh.1_Missense_Mutation_p.L37I|LILRA5_uc002qfg.1_Missense_Mutation_p.L49I NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 49 Extracellular (Potential). innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCAGCCCAGAGGGTGGCTTTG 0.622 NA 36 96 1.36161e-19 3.48656e-19 0.004289 1 0 SAPS1 22870 broad.mit.edu 37 19 55753857 55753857 + Splice_Site SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:55753857C>G uc002qjw.3 - 6 861 c.619_splice c.e6-1 p.Q207_splice SAPS1_uc002qjv.2_Splice_Site_p.Q269_splice NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TGGAATGTTGCTGGAACGGGG 0.622 NA 32 72 0 0 0.001786 0 0 ZNF543 125919 broad.mit.edu 37 19 57835140 57835140 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:57835140G>T uc002qoi.1 + 2 454 c.109G>T c.(109-111)GTG>TTG p.V37L NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTATCAGGAGGTGATGCTGGA 0.532 NA 55 151 1.10885e-35 3.28764e-35 0.00361 1 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:58385762C>G uc002qqo.2 - 3 1268 c.996G>C c.(994-996)TCG>TCC p.S332S ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 ATTTGCTAAACGATTTCCCAC 0.358 NA 3 7 0 0 0.004672 0 0 NRXN1 9378 broad.mit.edu 37 2 50779780 50779780 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:50779780C>A uc010fbq.2 - 9 3301 c.1824G>T c.(1822-1824)AAG>AAT p.K608N NRXN1_uc002rxb.3_Missense_Mutation_p.K240N|NRXN1_uc002rxe.3_Missense_Mutation_p.K568N|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CATTCACTTTCTTCAACAGGG 0.443 NA 58 169 1.08141e-31 3.09759e-31 0.00361 1 0 XPO1 7514 broad.mit.edu 37 2 61706009 61706009 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:61706009C>A uc002sbj.2 - 25 3890 c.3162G>T c.(3160-3162)ATG>ATT p.M1054I XPO1_uc010fcl.2_Missense_Mutation_p.M1050I|XPO1_uc010ypn.1_Missense_Mutation_p.M1050I|XPO1_uc002sbk.2_Missense_Mutation_p.M615I|XPO1_uc002sbg.2_Missense_Mutation_p.M251I|XPO1_uc002sbh.2_Missense_Mutation_p.M701I NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 1054 intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) CAGGGACAGACATTTGACGTT 0.393 NA 25 89 7.92952e-12 1.82325e-11 0.003954 1 0 XPO1 7514 broad.mit.edu 37 2 61729132 61729132 + Missense_Mutation SNP T T A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:61729132T>A uc002sbj.2 - 6 1135 c.407A>T c.(406-408)CAG>CTG p.Q136L XPO1_uc010fcl.2_Missense_Mutation_p.Q132L|XPO1_uc010ypn.1_Missense_Mutation_p.Q132L|XPO1_uc002sbk.2_5'UTR NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 136 Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AAAGCTTACCTGAACAAGGAT 0.269 NA 12 43 0 0 0.000978 0 0 NEB 4703 broad.mit.edu 37 2 152383524 152383524 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:152383524G>T uc010fnx.2 - 120 16941 c.16750C>A c.(16750-16752)CTG>ATG p.L5584M NEB_uc002txr.2_Missense_Mutation_p.L2007M|NEB_uc002txt.3_Missense_Mutation_p.L89M NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5584 Nebulin 152. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCCGGTCCAGCTTATATTCA 0.453 NA 6 24 2.7689e-08 6.11691e-08 0.001984 1 0 NEB 4703 broad.mit.edu 37 2 152432670 152432670 + Missense_Mutation SNP T T C TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:152432670T>C uc010fnx.2 - 78 11991 c.11800A>G c.(11800-11802)AGT>GGT p.S3934G NEB_uc002txr.2_Missense_Mutation_p.S357G NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3934 Nebulin 107. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCACAATACTAATATTTTCA 0.308 NA 12 33 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179594055 179594055 + Missense_Mutation SNP T T A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:179594055T>A uc010zfg.1 - 61 15320 c.15096A>T c.(15094-15096)GAA>GAT p.E5032D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1693D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5959 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCTGCCGCCTTCATTGGATA 0.413 NA 73 156 0 0 0.00361 0 0 FAM117B 150864 broad.mit.edu 37 2 203591005 203591005 + Missense_Mutation SNP T T A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:203591005T>A uc010zhx.1 + 4 889 c.879T>A c.(877-879)AGT>AGA p.S293R NM_173511 NP_775782 Q6P1L5 F117B_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 293 ovary(1) 1 TGCAGAGAAGTAAACACAGCA 0.408 NA 64 153 0 0 0.00361 0 0 ERBB4 2066 broad.mit.edu 37 2 212589824 212589824 + Nonsense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:212589824C>A uc002veg.1 - 6 816 c.718G>T c.(718-720)GGA>TGA p.G240* ERBB4_uc002veh.1_Nonsense_Mutation_p.G240*|ERBB4_uc010zji.1_Nonsense_Mutation_p.G240*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.G240*|ERBB4_uc010fut.1_Nonsense_Mutation_p.G240* NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 240 Cys-rich.|Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCCTTAGGTCCTGAGCAGCCT 0.478 NA TSP Lung(8;0.080) 55 95 3.07002e-29 8.50546e-29 0.00361 1 0 SLC11A1 6556 broad.mit.edu 37 2 219249006 219249006 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr2:219249006C>T uc002vhv.2 + 3 531 c.191C>T c.(190-192)CCT>CTT p.P64L SLC11A1_uc010zkb.1_Missense_Mutation_p.P64L|SLC11A1_uc010fvp.1_Missense_Mutation_p.P64L|SLC11A1_uc010fvq.1_5'UTR|SLC11A1_uc010zkc.1_5'UTR|SLC11A1_uc002vhu.1_Intron|SLC11A1_uc002vhw.2_5'UTR|SLC11A1_uc010fvr.2_5'Flank NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 64 Helical; (Potential).|Pro/Ser-rich. activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCACGGGGCCTGGCTTCCTC 0.597 NA 74 217 0 0 0.00361 0 0 CST4 1472 broad.mit.edu 37 20 23666557 23666557 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr20:23666557C>G uc002wto.1 - 3 456 c.400G>C c.(400-402)GTG>CTG p.V134L NM_001899 NP_001890 P01036 CYTS_HUMAN cystatin S precursor 134 extracellular region cysteine-type endopeptidase inhibitor activity breast(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) CTGGAATTCACCAGGGACATT 0.557 NA 23 66 0 0 0.00632 0 0 ETS2 2114 broad.mit.edu 37 21 40194699 40194699 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr21:40194699G>T uc002yxg.2 + 10 1492 c.1296G>T c.(1294-1296)AAG>AAT p.K432N ETS2_uc002yxf.2_Missense_Mutation_p.K572N NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 432 ETS. positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TCATCCACAAGACGTCGGGGA 0.587 NA 28 64 4.92203e-23 1.32035e-22 0.00623 1 0 COL18A1 80781 broad.mit.edu 37 21 46917542 46917542 + Missense_Mutation SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr21:46917542G>A uc011afs.1 + 31 3916 c.3895G>A c.(3895-3897)GCC>ACC p.A1299T COL18A1_uc002zhg.2_Missense_Mutation_p.A884T|COL18A1_uc002zhi.2_Missense_Mutation_p.A1064T NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1299 Triple-helical region 7 (COL7). A -> P (in Ref. 5; AAA51864). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) ACCCAAGGGCGCCAAAGGAGA 0.652 NA 3 6 0 0 0.000248 0 0 LZTR1 8216 broad.mit.edu 37 22 21336817 21336817 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr22:21336817C>T uc002zto.2 + 1 260 c.157C>T c.(157-159)CGC>TGC p.R53C LZTR1_uc002ztn.2_Intron|LZTR1_uc011ahy.1_Missense_Mutation_p.R53C NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 53 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AACAGTGCATCGCTGGCGGCG 0.662 NA 14 32 0 0 0.003163 0 0 C3orf20 84077 broad.mit.edu 37 3 14755649 14755649 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr3:14755649C>A uc003byy.2 + 8 1700 c.1296C>A c.(1294-1296)CAC>CAA p.H432Q C3orf20_uc003byz.2_Missense_Mutation_p.H310Q|C3orf20_uc003bza.2_Missense_Mutation_p.H310Q|C3orf20_uc003bzb.1_5'UTR NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 432 cytoplasm|integral to membrane ovary(3)|skin(1) 4 GCTGTGTTCACTACAACCTAA 0.517 NA 27 53 3.6726e-16 8.86671e-16 0.003954 1 0 SLC9A10 285335 broad.mit.edu 37 3 111958724 111958724 + Missense_Mutation SNP A A T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr3:111958724A>T uc003dyu.2 - 12 1631 c.1409T>A c.(1408-1410)ATG>AAG p.M470K SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.M422K NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 470 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 TTTCTCAATCATGTTCCAATC 0.338 NA 13 61 0 0 0.001855 0 0 ESYT3 83850 broad.mit.edu 37 3 138191512 138191514 + Missense_Mutation TNP AGA AGA GTC TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 AGA AGA - - AGA AGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr3:138191512_138191514AGA>GTC uc003esk.2 + 18 2274_2276 c.2048_2050AGA>GTC c.(2047-2052)AAGAGT>AGTCGT p.683_684KS>SR ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 683_684 integral to membrane|plasma membrane 0 GGGGAGAAGAAGAGTCCAGCCAC 0.596 NA 29 114 0 0 0.004672 0 0 SI 6476 broad.mit.edu 37 3 164792419 164792419 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr3:164792419C>T uc003fei.2 - 3 217 c.155G>A c.(154-156)CGT>CAT p.R52H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 52 Ser/Thr-rich.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTAGTCACACGAGTAGTAGC 0.338 NA HNSCC(35;0.089) 25 109 0 0 0.007291 0 0 TP63 8626 broad.mit.edu 37 3 189526252 189526252 + Silent SNP A A G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr3:189526252A>G uc003fry.2 + 4 605 c.516A>G c.(514-516)CCA>CCG p.P172P TP63_uc003frx.2_Silent_p.P172P|TP63_uc003frz.2_Silent_p.P172P|TP63_uc010hzc.1_Silent_p.P172P|TP63_uc003fsa.2_Silent_p.P78P|TP63_uc003fsb.2_Silent_p.P78P|TP63_uc003fsc.2_Silent_p.P78P|TP63_uc003fsd.2_Silent_p.P78P|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.P53P NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 172 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCGACTACCCAGGCCCGCACA 0.652 NA Hay-Wells_syndrome HNSCC(45;0.13) 31 83 0 0 0.008361 0 0 KIAA1109 84162 broad.mit.edu 37 4 123171706 123171706 + Missense_Mutation SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr4:123171706G>A uc003ieh.2 + 35 5945 c.5900G>A c.(5899-5901)GGA>GAA p.G1967E KIAA1109_uc003iek.2_Missense_Mutation_p.G586E NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1967 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GACTTAAATGGAAATTCTGTT 0.338 NA 39 75 0 0 0.00874 0 0 RASGRF2 5924 broad.mit.edu 37 5 80419539 80419539 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr5:80419539G>T uc003kha.1 + 16 2549 c.2549G>T c.(2548-2550)TGC>TTC p.C850F RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 850 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CTTTCACCTTGCAGATCCCCC 0.517 NA 29 81 1.88708e-17 4.65573e-17 0.008361 1 0 GIN1 54826 broad.mit.edu 37 5 102432325 102432325 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr5:102432325C>T uc003koa.1 - 7 1296 c.1214G>A c.(1213-1215)AGA>AAA p.R405K GIN1_uc003kob.1_Missense_Mutation_p.R258K|GIN1_uc003koc.1_Intron NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 405 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) AGTGTTGTCTCTCAGGACAGC 0.418 NA 99 240 0 0 0.00361 0 0 SLC27A6 28965 broad.mit.edu 37 5 128362939 128362939 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr5:128362939G>T uc003kuy.2 + 8 1765 c.1369G>T c.(1369-1371)GAT>TAT p.D457Y SLC27A6_uc003kuz.2_Missense_Mutation_p.D457Y NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 457 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TAAGAAGGGAGATGTTTACCT 0.378 NA 58 117 9.72345e-25 2.65042e-24 0.00361 1 0 CTNNA1 1495 broad.mit.edu 37 5 138266210 138266210 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr5:138266210C>G uc003ldh.2 + 15 2154 c.2059C>G c.(2059-2061)CAG>GAG p.Q687E CTNNA1_uc011cyx.1_Missense_Mutation_p.Q584E|CTNNA1_uc011cyy.1_Missense_Mutation_p.Q564E|CTNNA1_uc003ldi.2_Missense_Mutation_p.Q385E|CTNNA1_uc003ldj.2_Missense_Mutation_p.Q687E|CTNNA1_uc003ldl.2_Missense_Mutation_p.Q317E NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 687 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GATTGCGGAACAGGTGGCCAG 0.483 NA 44 103 0 0 0.00874 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559724 140559724 + Silent SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr5:140559724C>T uc011dai.1 + 1 2295 c.2109C>T c.(2107-2109)CTC>CTT p.L703L PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 703 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTCTTCCTCTTCTCGGTGC 0.677 NA 92 217 0 0 0.00361 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595072 140595072 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr5:140595072C>A uc003lja.1 + 1 1564 c.1377C>A c.(1375-1377)TTC>TTA p.F459L NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 459 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.602 NA 92 224 4.64247e-43 1.40103e-42 0.00361 1 0 HLA-J 3137 broad.mit.edu 37 6 29977327 29977327 + Silent SNP T T C rs143365191 by1000genomes TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr6:29977327T>C uc003rtl.3 + 5 708 c.346T>C c.(346-348)TTG>CTG p.L116L HLA-G_uc011dmb.1_3'UTR|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038). 0 GACAGCTGCCTTGTGTGGGAC 0.438 NA 3 105 0 0 0.004672 0 0 EYS 346007 broad.mit.edu 37 6 66115164 66115164 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr6:66115164C>G uc011dxu.1 - 6 1497 c.959G>C c.(958-960)TGC>TCC p.C320S EYS_uc003peq.2_Missense_Mutation_p.C320S|EYS_uc003per.1_Missense_Mutation_p.C320S NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 320 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 TCCTTTTGGGCATTCATAAGT 0.383 NA 58 144 0 0 0.00361 0 0 HIVEP2 3097 broad.mit.edu 37 6 143094060 143094060 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr6:143094060C>A uc003qjd.2 - 5 2559 c.1816G>T c.(1816-1818)GTG>TTG p.V606L NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TCGACTTCCACGTGGCCCTCC 0.532 Esophageal Squamous(107;843 1510 13293 16805 42198) NA 53 74 9.16383e-17 2.24448e-16 0.00361 1 0 MAP3K4 4216 broad.mit.edu 37 6 161508846 161508846 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr6:161508846G>T uc003qtn.2 + 10 2825 c.2683G>T c.(2683-2685)GTA>TTA p.V895L MAP3K4_uc010kkc.1_Missense_Mutation_p.V895L|MAP3K4_uc003qto.2_Missense_Mutation_p.V895L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.V348L NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 895 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TTCAGATGACGTACTCATCGA 0.493 NA 47 54 1.61004e-24 4.35354e-24 0.00361 1 0 THBS2 7058 broad.mit.edu 37 6 169634978 169634978 + Missense_Mutation SNP G G C TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr6:169634978G>C uc003qwt.2 - 11 1750 c.1502C>G c.(1501-1503)TCC>TGC p.S501C NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 501 TSP type-1 3. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CGACCACGGGGACCAGGGGCT 0.677 Esophageal Squamous(91;219 1934 18562 44706) NA 3 75 0 0 0.004672 0 0 ABCB5 340273 broad.mit.edu 37 7 20778674 20778674 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr7:20778674C>G uc003suw.3 + 15 2147 c.1601C>G c.(1600-1602)TCC>TGC p.S534C ABCB5_uc010kuh.2_Missense_Mutation_p.S979C NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 534 Cytoplasmic (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CCTGAATATTCCAAAGCCAAA 0.428 NA 16 35 0 0 0.004007 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23358808 23358808 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr7:23358808C>G uc003swg.2 - 11 1535 c.1269G>C c.(1267-1269)AAG>AAC p.K423N IGF2BP3_uc003swf.2_Missense_Mutation_p.K42N NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 423 KH 3. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 GCTGGCCCTGCTTGCCGATGA 0.458 NA 43 117 0 0 0.007835 0 0 HECW1 23072 broad.mit.edu 37 7 43360233 43360233 + Splice_Site SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr7:43360233G>A uc003tid.1 + 5 958 c.353_splice c.e5-1 p.D118_splice HECW1_uc011kbi.1_Splice_Site_p.D118_splice|HECW1_uc003tie.1_Splice_Site_p.D150_splice NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 TGGGAATATAGATGAGGTCTT 0.428 NA 24 59 0 0 0.00333 0 0 ANKIB1 54467 broad.mit.edu 37 7 91980320 91980320 + Missense_Mutation SNP A A T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr7:91980320A>T uc003ulw.2 + 8 1518 c.1142A>T c.(1141-1143)TAT>TTT p.Y381F NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 381 RING-type 1; atypical. protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGCCCTGCATATGATTGCTTC 0.348 NA 13 35 0 0 0.001855 0 0 RELN 5649 broad.mit.edu 37 7 103202009 103202009 + Silent SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr7:103202009G>T uc003vca.2 - 36 5659 c.5499C>A c.(5497-5499)ATC>ATA p.I1833I RELN_uc010liz.2_Silent_p.I1833I NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1833 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCCAGATTTGATGGTTTCAC 0.408 NSCLC(146;835 1944 15585 22231 52158) NA 35 96 1.60099e-16 3.89304e-16 0.004878 1 0 SH2D4A 63898 broad.mit.edu 37 8 19221702 19221702 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr8:19221702C>A uc003wzb.2 + 7 1162 c.826C>A c.(826-828)CCC>ACC p.P276T SH2D4A_uc011kym.1_Missense_Mutation_p.P231T|SH2D4A_uc003wzc.2_Missense_Mutation_p.P276T NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 276 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) GCTGCAAAGCCCCTTGCGTGT 0.527 NA 30 90 9.04072e-19 2.29757e-18 0.003271 1 0 NRG1 3084 broad.mit.edu 37 8 32611924 32611924 + Silent SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr8:32611924C>T uc003xiv.2 + 8 1252 c.735C>T c.(733-735)ACC>ACT p.T245T NRG1_uc011lbf.1_Silent_p.T242T|NRG1_uc010lvo.2_Silent_p.T242T|NRG1_uc003xiu.2_Silent_p.T250T|NRG1_uc003xiw.2_Silent_p.T242T|NRG1_uc003xit.2_Silent_p.T245T|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.T199T|NRG1_uc010lvq.2_Silent_p.T182T|NRG1_uc011lbg.1_Silent_p.T91T|NRG1_uc011lbh.1_Silent_p.T88T|NRG1_uc003xiz.1_RNA|NRG1_uc003xja.2_Silent_p.T56T NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 245 Helical; Note=Internal signal sequence; (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GAGTGCTGACCATAACCGGCA 0.522 NA 28 83 0 0 0.00632 0 0 FAM110B 90362 broad.mit.edu 37 8 59059008 59059008 + Missense_Mutation SNP G G C TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr8:59059008G>C uc003xtj.1 + 5 1099 c.219G>C c.(217-219)GAG>GAC p.E73D NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 73 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CCAAGCAGGAGCCCGTGAAGC 0.677 NA 30 61 0 0 0.002836 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767692 77767693 + Missense_Mutation DNP GG GG TT TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr8:77767692_77767693GG>TT uc003yav.2 + 10 8787_8788 c.8400_8401GG>TT c.(8398-8403)CTGGAT>CTTTAT p.D2801Y ZFHX4_uc003yau.1_Missense_Mutation_p.D2846Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2801Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2801 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAAAACTCTGGATACTCTGCC 0.49 NA HNSCC(33;0.089) 35 66 0 0 0.004672 0 0 FAM135B 51059 broad.mit.edu 37 8 139164870 139164870 + Silent SNP A A G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr8:139164870A>G uc003yuy.2 - 13 2019 c.1848T>C c.(1846-1848)AGT>AGC p.S616S FAM135B_uc003yux.2_Silent_p.S517S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.S178S|FAM135B_uc003yvb.2_Silent_p.S178S NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 616 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTCCTAGAGTACTTAATTCAT 0.463 NA HNSCC(54;0.14) 59 154 0 0 0.00361 0 0 MFSD3 113655 broad.mit.edu 37 8 145735371 145735371 + Missense_Mutation SNP G G C TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr8:145735371G>C uc003zdi.1 + 1 820 c.655G>C c.(655-657)GCA>CCA p.A219P NM_138431 NP_612440 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 219 Leu-rich.|Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(2) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CGTGTGGACGGCAGGCTTTGT 0.687 NA OREG0019059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 19 0 0 0.006214 0 0 KDM4C 23081 broad.mit.edu 37 9 6986603 6986603 + Silent SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr9:6986603C>T uc003zkh.2 + 11 2194 c.1614C>T c.(1612-1614)GGC>GGT p.G538G KDM4C_uc010mhu.2_Silent_p.G560G|KDM4C_uc011lmi.1_Silent_p.G538G|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.G538G|KDM4C_uc011lmk.1_Intron|KDM4C_uc011lml.1_Silent_p.G225G NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 538 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 ATGGGAATGGCCTTGAACCTG 0.468 NA 27 49 0 0 0.005443 0 0 POMT1 10585 broad.mit.edu 37 9 134385140 134385140 + Silent SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr9:134385140C>T uc004cav.2 + 7 752 c.550C>T c.(550-552)CTG>TTG p.L184L POMT1_uc011mci.1_Silent_p.L146L|POMT1_uc004cax.2_Silent_p.L184L|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Silent_p.L184L|POMT1_uc004caw.2_Silent_p.L130L|POMT1_uc011mck.1_Silent_p.L67L|POMT1_uc011mcl.1_Silent_p.L32L|POMT1_uc011mcm.1_Silent_p.L154L|POMT1_uc011mcn.1_5'Flank NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 184 Helical; (Potential). multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) CCCTTTTTCTCTGAGCTGGTG 0.483 NA 61 148 0 0 0.00361 0 0 MXRA5 25878 broad.mit.edu 37 X 3240968 3240968 + Missense_Mutation SNP G G C TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:3240968G>C uc004crg.3 - 5 2915 c.2758C>G c.(2758-2760)CCA>GCA p.P920A NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 920 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTAGGAGATGGTTCATAAGGC 0.493 NA 61 135 0 0 0.00361 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766230 27766230 + Silent SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:27766230C>G uc011mjy.1 + 1 1305 c.1218C>G c.(1216-1218)GGC>GGG p.G406G NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 AAAACAATGGCGTGCTCAAGA 0.438 NA 31 66 0 0 0.008361 0 0 FAM47B 170062 broad.mit.edu 37 X 34961951 34961951 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:34961951C>A uc004ddi.1 + 1 1021 c.1003C>A c.(1003-1005)CCT>ACT p.P335T NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 335 ovary(3)|breast(1) 4 CTGCCTGGAACCTCCCAACAC 0.592 NA 39 89 6.5261e-18 1.62193e-17 0.00874 1 0 PRICKLE3 4007 broad.mit.edu 37 X 49035674 49035674 + Missense_Mutation SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:49035674G>A uc004dmy.1 - 5 516 c.490C>T c.(490-492)CGG>TGG p.R164W PRICKLE3_uc011mmv.1_Missense_Mutation_p.R96W|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R83W|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R126W|PRICKLE3_uc011mmy.1_Missense_Mutation_p.R151W NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 164 PET. protein binding|zinc ion binding breast(1) 1 TCCCGCTTCCGCTGCTGGCTA 0.612 NA 13 34 0 0 0.001855 0 0 SYP 6855 broad.mit.edu 37 X 49047923 49047923 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:49047923C>T uc004dmz.1 - 6 929 c.913G>A c.(913-915)GCA>ACA p.A305T SYP_uc011mmz.1_Missense_Mutation_p.A187T|SYP_uc004dna.1_Missense_Mutation_p.A299T NM_003179 NP_003170 P08247 SYPH_HUMAN synaptophysin 305 Cytoplasmic (Potential).|Repeats, Gly-rich. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(315;0.00016) GAGGTGGGTGCACCCTGCGGG 0.647 NA 12 38 0 0 0.001855 0 0 CLCN5 1184 broad.mit.edu 37 X 49840596 49840596 + Missense_Mutation SNP G G A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:49840596G>A uc004dos.1 + 4 600 c.352G>A c.(352-354)GAG>AAG p.E118K CLCN5_uc004dor.1_Missense_Mutation_p.E188K|CLCN5_uc004doq.1_Missense_Mutation_p.E188K|CLCN5_uc004dot.1_Missense_Mutation_p.E118K NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 118 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) CAAATGTCCAGAGTGGAATAG 0.388 NA 31 75 0 0 0.008361 0 0 ITIH5L 347365 broad.mit.edu 37 X 54783622 54783622 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:54783622G>T uc004dtj.2 - 8 2915 c.2885C>A c.(2884-2886)CCA>CAA p.P962Q NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 962 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TGGAACTCCTGGCCTAGATGG 0.577 NA 44 68 1.31131e-34 3.8541e-34 0.003214 1 0 OGT 8473 broad.mit.edu 37 X 70782790 70782790 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:70782790C>A uc004eaa.1 + 16 2288 c.2071C>A c.(2071-2073)CAG>AAG p.Q691K BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.Q681K|OGT_uc004eac.2_Missense_Mutation_p.Q552K|OGT_uc004ead.2_Missense_Mutation_p.Q310K NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 691 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) AGTTGCTGAGCAGTATTCCGA 0.438 NA 48 132 7.05377e-20 1.81998e-19 0.00361 1 0 FAM199X 139231 broad.mit.edu 37 X 103411604 103411604 + Silent SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:103411604C>T uc004elw.2 + 1 304 c.138C>T c.(136-138)TTC>TTT p.F46F NM_207318 NP_997201 Q6PEV8 F199X_HUMAN hypothetical protein LOC139231 46 ovary(1) 1 TCAGCGACTTCGGCTGCCAGC 0.657 NA 12 46 0 0 0.00499 0 0 COL4A5 1287 broad.mit.edu 37 X 107869498 107869498 + Silent SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:107869498C>G uc004enz.1 + 36 3367 c.3165C>G c.(3163-3165)TCC>TCG p.S1055S COL4A5_uc011mso.1_Silent_p.S1055S|COL4A5_uc004eob.1_Silent_p.S663S NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1055 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 AACCTGGCTCCCCAGGATTAC 0.458 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 46 125 0 0 0.00361 0 0 UTP14A 10813 broad.mit.edu 37 X 129055497 129055497 + Silent SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:129055497C>A uc004euz.2 + 11 1310 c.1282C>A c.(1282-1284)CGA>AGA p.R428R UTP14A_uc011mup.1_Silent_p.R376R|UTP14A_uc011muq.1_Silent_p.R374R|UTP14A_uc004eva.1_Silent_p.R134R NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 428 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 TGAGGAAAGGCGATCCCTTAG 0.463 NA 34 82 9.65021e-13 2.2495e-12 0.002096 1 0 ATP11C 286410 broad.mit.edu 37 X 138871610 138871610 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:138871610G>T uc004faz.2 - 13 1352 c.1253C>A c.(1252-1254)ACT>AAT p.T418N ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.T418N NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 418 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) GCTGTTTTCAGTGAGTGTTCC 0.343 NA 25 79 5.45024e-15 1.28824e-14 0.00333 1 0 SLITRK4 139065 broad.mit.edu 37 X 142718322 142718322 + Missense_Mutation SNP G G T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:142718322G>T uc004fbx.2 - 2 979 c.603C>A c.(601-603)CAC>CAA p.H201Q SLITRK4_uc004fby.2_Missense_Mutation_p.H201Q NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 201 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CACGGCCAATGTGTTCCAGAA 0.438 NA 51 117 6.08268e-21 1.5815e-20 0.00361 1 0 BCAP31 10134 broad.mit.edu 37 X 152967486 152967486 + Missense_Mutation SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:152967486C>G uc011myz.1 - 7 834 c.678G>C c.(676-678)TTG>TTC p.L226F BCAP31_uc011myy.1_Missense_Mutation_p.L138F|BCAP31_uc004fid.2_Missense_Mutation_p.L293F|BCAP31_uc011mza.1_Missense_Mutation_p.L226F|BCAP31_uc004fie.2_Missense_Mutation_p.L226F NM_001139441 NP_001132913 P51572 BAP31_HUMAN B-cell receptor-associated protein 31 isoform b 226 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane receptor binding 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCCTCCAGCAAGCGGTCGT 0.587 NA 21 59 0 0 0.001882 0 0 MECP2 4204 broad.mit.edu 37 X 153296461 153296461 + Missense_Mutation SNP C C A rs61750242 TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chrX:153296461C>A uc004fjv.2 - 4 1044 c.818G>T c.(817-819)GGG>GTG p.G273V MECP2_uc004fjw.2_Missense_Mutation_p.G285V NM_004992 NP_004983 P51608 MECP2_HUMAN methyl CpG binding protein 2 isoform 1 273 A.T hook 2. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACCACACTCCCCGGCTTTCG 0.607 NA 80 189 3.26865e-45 1.00437e-44 0.00361 1 0 RPL5 6125 broad.mit.edu 37 1 93306104 93306126 + Splice_Site DEL TCAGATGGAGGAGATGTATAAGA TCAGATGGAGGAGATGTATAAGA - TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 TCAGATGGAGGAGATGTATAAGA TCAGATGGAGGAGATGTATAAGA - - TCAGATGGAGGAGATGTATAAGA TCAGATGGAGGAGATGTATAAGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr1:93306104_93306126delTCAGATGGAGGAGATGTATAAGA uc001doz.2 + 7 784 c.706_splice c.e7-1 p.M236_splice FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Splice_Site|RPL5_uc001dpb.2_Splice_Site_p.M186_splice|RPL5_uc001dpd.2_Splice_Site_p.M37_splice|SNORA66_uc009wdi.1_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TTCCTTTGTTTCAGATGGAGGAGATGTATAAGAAAGCTCATGC 0.363 NA 11 162 --- --- --- --- NA NA NA NA NA SLC22A12 116085 broad.mit.edu 37 11 64360272 64360273 + Frame_Shift_Ins INS - - A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr11:64360272_64360273insA uc001oam.1 + 2 1171_1172 c.424_425insA c.(424-426)CATfs p.H142fs SLC22A12_uc009ypr.1_Frame_Shift_Ins_p.H142fs|SLC22A12_uc001oal.1_Translation_Start_Site|SLC22A12_uc009yps.1_Frame_Shift_Ins_p.H142fs|SLC22A12_uc001oan.1_Frame_Shift_Ins_p.H142fs|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 142 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 GTGTGACTCTCATGCTCTGAAG 0.634 NA 85 224 --- --- --- --- NA NA NA NA NA FMN1 342184 broad.mit.edu 37 15 33261122 33261123 + In_Frame_Ins INS - - CAA TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr15:33261122_33261123insCAA uc001zhf.3 - 4 2110_2111 c.2110_2111insTTG c.(2110-2112)CCA>CTTGCA p.704_704P>LA NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 927 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AAgtgggggtgggggtgggggt 0.421 NA 2 4 --- --- --- --- NA NA NA NA NA SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr19:47935681_47935683delTCC uc002pgx.2 - 9 2408_2410 c.2130_2132delGGA c.(2128-2133)GAGGAC>GAC p.E710del SLC8A2_uc010xyq.1_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.1_In_Frame_Del_p.E173del|SLC8A2_uc010ele.2_In_Frame_Del_p.E710del NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 710 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 NA 7 244 --- --- --- --- NA NA NA NA NA BBS7 55212 broad.mit.edu 37 4 122749557 122749557 + Frame_Shift_Del DEL T T - TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr4:122749557delT uc003ied.2 - 17 2064 c.1890delA c.(1888-1890)AAAfs p.K630fs BBS7_uc003iee.1_Frame_Shift_Del_p.K630fs NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 630 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 ATGTACTTACTTTTAAAGCAT 0.323 NA Bardet-Biedl_syndrome 35 102 --- --- --- --- NA NA NA NA NA PHACTR2 9749 broad.mit.edu 37 6 144081695 144081696 + Frame_Shift_Ins INS - - A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr6:144081695_144081696insA uc003qjq.3 + 5 709_710 c.579_580insA c.(577-582)ATTAAAfs p.I193fs PHACTR2_uc010khh.2_Intron|PHACTR2_uc010khi.2_Frame_Shift_Ins_p.I204fs|PHACTR2_uc003qjr.3_Intron NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 193_194 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TGCCTCCCATTAAAAAAAATAC 0.569 Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208) NA 8 113 --- --- --- --- NA NA NA NA NA C7orf25 79020 broad.mit.edu 37 7 42950377 42950377 + Frame_Shift_Del DEL T T - TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr7:42950377delT uc003thw.2 - 2 587 c.123delA c.(121-123)AAAfs p.K41fs C7orf25_uc010kxq.2_Frame_Shift_Del_p.K41fs|C7orf25_uc003thx.3_Frame_Shift_Del_p.K99fs|C7orf25_uc010kxr.2_Frame_Shift_Del_p.K99fs NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 41 skin(1) 1 CTGCCTTCAATTTGCTGCACA 0.423 NA 108 253 --- --- --- --- NA NA NA NA NA TBC1D2 55357 broad.mit.edu 37 9 100965613 100965614 + Frame_Shift_Del DEL AT AT - TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 AT AT - - AT AT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr9:100965613_100965614delAT uc011lvb.1 - 10 2407_2408 c.2227_2228delAT c.(2227-2229)ATCfs p.I743fs TBC1D2_uc004ayp.2_Frame_Shift_Del_p.I283fs|TBC1D2_uc004ayq.2_Frame_Shift_Del_p.I743fs|TBC1D2_uc004ayr.2_Frame_Shift_Del_p.I525fs|TBC1D2_uc004ayo.3_Frame_Shift_Del_p.I743fs NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 743 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGCGGGCATGATGGTCTCCACA 0.614 NA 78 205 --- --- --- --- NA NA NA NA NA TLR4 7099 broad.mit.edu 37 9 120476595 120476595 + Frame_Shift_Del DEL G G - TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e35f07c4-bc27-4f85-bc74-acb00e8445bd 21fa02d1-a56c-4fe0-80eb-780083e6a889 g.chr9:120476595delG uc004bjz.2 + 3 2480 c.2189delG c.(2188-2190)AGCfs p.S730fs TLR4_uc004bka.2_Frame_Shift_Del_p.S690fs|TLR4_uc004bkb.2_Frame_Shift_Del_p.S530fs NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 730 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTCCATAAAAGCCGAAAGGTG 0.493 NA 52 139 --- --- --- --- NA NA NA NA NA