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 CASZ1 54897 broad.mit.edu 37 1 10713525 10713525 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:10713525C>T uc001aro.2 - 11 2909 c.2589G>A c.(2587-2589)ATG>ATA p.M863I CASZ1_uc001arp.1_Missense_Mutation_p.M863I|CASZ1_uc009vmx.2_Missense_Mutation_p.M887I NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 863 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGATCCTCTCCATGATGGAGG 0.672 NA 4 41 0 0 0.00116845 0 0 LPHN2 23266 broad.mit.edu 37 1 82417722 82417722 + Missense_Mutation SNP A A C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:82417722A>C uc001dit.3 + 9 1859 c.1678A>C c.(1678-1680)AGT>CGT p.S560R LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.S560R|LPHN2_uc001div.2_Missense_Mutation_p.S560R|LPHN2_uc009wcd.2_Missense_Mutation_p.S560R|LPHN2_uc001diw.2_Missense_Mutation_p.S131R NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 560 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TGGGGATGTAAGTTCTTCAGT 0.433 NA 4 31 0 0 0.000602214 0 0 COL11A1 1301 broad.mit.edu 37 1 103468348 103468348 + Splice_Site SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:103468348C>T uc001dul.2 - 22 2317 c.1999_splice c.e22-1 p.G667_splice COL11A1_uc001duk.2_Splice_Site|COL11A1_uc001dum.2_Splice_Site_p.G679_splice|COL11A1_uc001dun.2_Splice_Site_p.G628_splice|COL11A1_uc009weh.2_Splice_Site_p.G551_splice NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTGCCATACCCTGCAATGAAG 0.343 NA 5 27 0 0 0.000442599 0 0 PBXIP1 57326 broad.mit.edu 37 1 154919177 154919177 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:154919177G>A uc001ffr.2 - 10 1032 c.973C>T c.(973-975)CGG>TGG p.R325W PBXIP1_uc001ffs.2_Missense_Mutation_p.R296W|PBXIP1_uc010pep.1_Missense_Mutation_p.R170W NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 325 Potential. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCAGAGCCCGCTGGAAGGCT 0.672 NA 16 13 0 0 0.000422831 0 0 CLK2 1196 broad.mit.edu 37 1 155240629 155240629 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:155240629C>T uc001fjy.2 - 2 430 c.140G>A c.(139-141)CGA>CAA p.R47Q RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.R47Q|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.R47Q NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 47 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGTCCTCTCGCCGACGCCG 0.527 NA Other_conserved_DNA_damage_response_genes 61 153 0 0 0.000781405 0 0 VAMP4 8674 broad.mit.edu 37 1 171679944 171679944 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:171679944G>C uc001ghx.1 - 5 389 c.175C>G c.(175-177)CAA>GAA p.Q59E VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.Q58E|VAMP4_uc001ghv.1_5'Flank NM_003762 NP_003753 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 59 Cytoplasmic (Potential).|v-SNARE coiled-coil homology. vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome 0 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TCATCCACTTGATTCTGAACA 0.303 NA 6 105 0 0 0.000157383 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563941 176563941 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:176563941G>A uc001gkz.2 + 3 2365 c.1201G>A c.(1201-1203)GCA>ACA p.A401T PAPPA2_uc001gky.1_Missense_Mutation_p.A401T|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 401 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCCCTTCATGGCATCTTGCCG 0.602 NA 13 93 0 0 0.000219431 0 0 LAMC2 3918 broad.mit.edu 37 1 183190037 183190037 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:183190037C>G uc001gqa.2 + 5 895 c.581C>G c.(580-582)GCC>GGC p.A194G LAMC2_uc001gpz.3_Missense_Mutation_p.A194G|LAMC2_uc010poa.1_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 194 Laminin EGF-like 4; first part. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 GGGCATTCAGCCAGCTGCCGC 0.453 NA 4 59 0 0 0.00024832 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200817373 200817373 + Missense_Mutation SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:200817373A>G uc001gvl.2 + 12 1779 c.1509A>G c.(1507-1509)ATA>ATG p.I503M CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.I492M|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.I476M NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 503 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 AACTTAATATAGATTCTCACA 0.343 NA 36 72 0 0 0.000953801 0 0 OR13G1 441933 broad.mit.edu 37 1 247836182 247836182 + Silent SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr1:247836182C>A uc001idi.1 - 1 162 c.162G>T c.(160-162)ACG>ACT p.T54T NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 54 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATACATGGGCGTATGCAAGG 0.418 NA 10 34 2.17888e-05 0.000121836 0.000442599 1 0 TUBB8 347688 broad.mit.edu 37 10 93320 93320 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:93320T>A uc001ifi.2 - 4 1012 c.1012A>T c.(1012-1014)AGC>TGC p.S338C TUBB8_uc009xhe.2_Missense_Mutation_p.S301C|TUBB8_uc010pzs.1_Missense_Mutation_p.S266C NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 338 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) AAGTAACTGCTGTTCTTATCT 0.527 Pancreas(192;2041 3010 9013 18103) NA 41 103 0 0 0.00148497 0 0 ADARB2 105 broad.mit.edu 37 10 1405829 1405830 + Missense_Mutation DNP CG CG TT TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:1405829_1405830CG>TT uc009xhq.2 - 3 844_845 c.470_471CG>AA c.(469-471)GCG>GAA p.A157E NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 157 DRBM 1. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCACCGCTACCGCGAAGACCGG 0.688 NA 4 24 0 0 6.4e-05 0 0 GPR158 57512 broad.mit.edu 37 10 25887907 25887907 + Nonsense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:25887907G>T uc001isj.2 + 11 3412 c.3352G>T c.(3352-3354)GAA>TAA p.E1118* GPR158_uc001isk.2_Nonsense_Mutation_p.E493* NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1118 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TGGGCAGAGCGAAGAACTGCC 0.473 NA 10 92 1.76689e-08 1.05385e-07 0.000442599 1 0 MYO3A 53904 broad.mit.edu 37 10 26414396 26414396 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:26414396G>A uc001isn.2 + 19 2333 c.1973G>A c.(1972-1974)AGA>AAA p.R658K MYO3A_uc009xko.1_Missense_Mutation_p.R658K|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 658 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.R658G(1) ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GTGGTCACTAGAGGAGAAACA 0.428 NA 9 93 0 0 0.000442599 0 0 ABI1 10006 broad.mit.edu 37 10 27060003 27060003 + Splice_Site SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:27060003C>A uc001isx.2 - 4 644 c.477_splice c.e4+1 p.K159_splice ABI1_uc001ite.2_Intron|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Splice_Site_p.K159_splice|ABI1_uc001ita.2_Splice_Site_p.K159_splice|ABI1_uc001isz.2_Intron|ABI1_uc001itb.2_Splice_Site_p.K176_splice|ABI1_uc001itc.2_Splice_Site_p.K159_splice|ABI1_uc010qdj.1_Splice_Site_p.K159_splice|ABI1_uc001itd.2_Splice_Site_p.K159_splice|ABI1_uc010qdk.1_Splice_Site_p.K159_splice|ABI1_uc010qdg.1_Intron NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 ATGGCTCTTACCTTGGCTTTT 0.383 NA 8 32 0.000157383 0.000865608 0.000157383 1 0 MTPAP 55149 broad.mit.edu 37 10 30615549 30615549 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:30615549G>A uc001iva.3 - 5 859 c.796C>T c.(796-798)CTG>TTG p.L266L MTPAP_uc001ivb.3_Silent_p.L396L NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 266 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 AATTCCATCAGAAAATTTCCT 0.338 NA 15 97 0 0 0.000308642 0 0 PCDH15 65217 broad.mit.edu 37 10 55755520 55755520 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:55755520C>T uc001jju.1 - 21 3152 c.2757G>A c.(2755-2757)ATG>ATA p.M919I PCDH15_uc010qhq.1_Missense_Mutation_p.M924I|PCDH15_uc010qhr.1_Missense_Mutation_p.M919I|PCDH15_uc010qhs.1_Missense_Mutation_p.M931I|PCDH15_uc010qht.1_Missense_Mutation_p.M926I|PCDH15_uc010qhu.1_Missense_Mutation_p.M919I|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.M919I|PCDH15_uc010qhw.1_Missense_Mutation_p.M882I|PCDH15_uc010qhx.1_Missense_Mutation_p.M848I|PCDH15_uc010qhy.1_Missense_Mutation_p.M924I|PCDH15_uc010qhz.1_Missense_Mutation_p.M919I|PCDH15_uc010qia.1_Missense_Mutation_p.M897I|PCDH15_uc010qib.1_Missense_Mutation_p.M897I|PCDH15_uc001jjw.2_Missense_Mutation_p.M919I NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 919 Extracellular (Potential).|Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GATAATCATTCATATCCTGTA 0.393 NA HNSCC(58;0.16) 10 22 0 0 0.000442599 0 0 STOX1 219736 broad.mit.edu 37 10 70641845 70641845 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:70641845C>T uc001jos.2 + 2 529 c.442C>T c.(442-444)CGT>TGT p.R148C STOX1_uc001jor.2_Missense_Mutation_p.R148C|STOX1_uc009xpy.2_Missense_Mutation_p.R148C|STOX1_uc001joq.2_Missense_Mutation_p.R38C NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 148 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 ACTTTTGGAGCGTTTGATGAA 0.343 NA 12 75 0 0 0.000422831 0 0 DDX50 79009 broad.mit.edu 37 10 70706252 70706252 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:70706252G>A uc001jou.2 + 15 2187 c.2080G>A c.(2080-2082)GGT>AGT p.G694S DDX50_uc010qjc.1_Intron NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 694 Arg-rich. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 AGGCCGGTCAGGTGGTCGATC 0.498 NA 6 41 0 0 0.00116845 0 0 SAMD8 142891 broad.mit.edu 37 10 76910337 76910337 + Silent SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:76910337A>G uc001jwx.1 + 2 154 c.51A>G c.(49-51)GTA>GTG p.V17V SAMD8_uc001jwy.1_Silent_p.V17V NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 17 SAM. sphingomyelin biosynthetic process integral to membrane 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CCAAGCATGTAGCTGTGTGGC 0.433 NA 20 56 0 0 0.00121646 0 0 DLG5 9231 broad.mit.edu 37 10 79553773 79553773 + Nonsense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:79553773G>T uc001jzk.2 - 31 5719 c.5649C>A c.(5647-5649)TAC>TAA p.Y1883* DLG5_uc001jzi.2_Nonsense_Mutation_p.Y638*|DLG5_uc001jzj.2_Nonsense_Mutation_p.Y1298* NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1883 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TACCTGTGAAGTACCTGCTGT 0.577 NA 12 79 5.50884e-06 3.11935e-05 0.00136819 1 0 NRG3 10718 broad.mit.edu 37 10 84744862 84744862 + Missense_Mutation SNP C C T rs150723859 TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:84744862C>T uc001kco.2 + 9 1619 c.1592C>T c.(1591-1593)TCC>TTC p.S531F NRG3_uc010qlz.1_Missense_Mutation_p.S530F|NRG3_uc001kcp.2_Missense_Mutation_p.S334F|NRG3_uc001kcq.2_Missense_Mutation_p.S181F|NRG3_uc001kcr.2_Missense_Mutation_p.S205F NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 555 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGGTATTCATCCAGTGGTTTA 0.303 NA 61 180 0 0 0.000781405 0 0 NEURL 9148 broad.mit.edu 37 10 105349409 105349409 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:105349409C>G uc001kxh.2 + 5 1888 c.1478C>G c.(1477-1479)TCT>TGT p.S493C SH3PXD2A_uc010qqr.1_Intron NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 493 nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTGGGTAGCTCTGCTGGTGGT 0.652 NA 8 75 0 0 0.000274275 0 0 SORCS1 114815 broad.mit.edu 37 10 108434901 108434901 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:108434901C>T uc001kym.2 - 14 1854 c.1846G>A c.(1846-1848)GAA>AAA p.E616K SORCS1_uc001kyl.2_Missense_Mutation_p.E616K|SORCS1_uc009xxs.2_Missense_Mutation_p.E616K|SORCS1_uc001kyn.1_Missense_Mutation_p.E616K|SORCS1_uc001kyo.2_Missense_Mutation_p.E616K NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 616 Lumenal (Potential).|BNR 5. 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) GATCTCCCTTCATCAAAACTC 0.378 NA 5 56 0 0 0.000602214 0 0 C10orf118 55088 broad.mit.edu 37 10 115922598 115922598 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:115922598C>G uc001lbb.1 - 2 1082 c.430G>C c.(430-432)GAC>CAC p.D144H C10orf118_uc001lbc.1_Missense_Mutation_p.D144H|C10orf118_uc009xye.1_RNA|C10orf118_uc001lbd.2_Missense_Mutation_p.D144H|C10orf118_uc001lbe.2_Missense_Mutation_p.D144H NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN CTCL tumor antigen L14-2 144 ovary(2) 2 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TTGGTGCAGTCTGTATCATAG 0.353 NA 13 101 0 0 0.00185496 0 0 PNLIP 5406 broad.mit.edu 37 10 118306878 118306878 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr10:118306878C>A uc001lcm.2 + 3 162 c.119C>A c.(118-120)CCC>CAC p.P40H NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 40 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) ACGGAAAGACCCCTCCATATA 0.438 NA 5 56 0.000602214 0.00325876 0.000602214 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16863240 16863240 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:16863240G>C uc001mmo.2 - 9 741 c.726C>G c.(724-726)ATC>ATG p.I242M PLEKHA7_uc010rcu.1_Missense_Mutation_p.I242M NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 242 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 AGCTGTTATAGATGAGCGCTC 0.552 NA 3 44 0 0 0.00024832 0 0 SAAL1 113174 broad.mit.edu 37 11 18110877 18110877 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:18110877C>A uc001mnq.2 - 7 820 c.770G>T c.(769-771)CGT>CTT p.R257L SAAL1_uc001mnr.2_Missense_Mutation_p.R257L|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.R257L NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 257 acute-phase response extracellular region binding 0 GCTCACCTACCGTACTTGTTT 0.433 NA 14 56 1.05317e-09 6.54331e-09 0.000219431 1 0 EIF3M 10480 broad.mit.edu 37 11 32610279 32610279 + Splice_Site SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:32610279G>A uc001mtu.2 + 3 357 c.314_splice c.e3+1 p.L105_splice EIF3M_uc010ref.1_Intron NM_006360 NP_006351 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1)|breast(1)|skin(1) 3 Breast(20;0.109) GACTGCAGTTGTAAGTTAAGA 0.323 NA 23 71 0 0 0.000375601 0 0 RAG1 5896 broad.mit.edu 37 11 36597777 36597777 + Silent SNP C C A rs121918570 TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:36597777C>A uc001mwu.3 + 2 3047 c.2923C>A c.(2923-2925)CGG>AGG p.R975R RAG1_uc001mwt.2_Intron NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 975 R -> W (in CHIDG; reduced recombination activity).|R -> Q (in OS). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) TAGGCGCTTCCGGAAAATGAA 0.473 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 14 76 2.32078e-09 1.43525e-08 0.000308642 1 0 FNBP4 23360 broad.mit.edu 37 11 47754218 47754218 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:47754218C>G uc009ylv.2 - 11 1844 c.1691G>C c.(1690-1692)CGA>CCA p.R564P FNBP4_uc001ngj.2_Missense_Mutation_p.R471P|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 564 ovary(1) 1 GTCTGCAATTCGAGTCTAGAA 0.398 NA 5 30 0 0 0.00116845 0 0 OR4C16 219428 broad.mit.edu 37 11 55339900 55339900 + Silent SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:55339900C>A uc010rih.1 + 1 297 c.297C>A c.(295-297)GTC>GTA p.V99V NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 99 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TGATCCAAGTCTTTTCATCCC 0.473 NA 32 206 6.00712e-18 3.95174e-17 0.000409698 1 0 STX5 6811 broad.mit.edu 37 11 62591939 62591939 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:62591939C>G uc001nvh.2 - 9 932 c.778G>C c.(778-780)GAC>CAC p.D260H STX5_uc010rmi.1_Missense_Mutation_p.D164H|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.D206H|STX5_uc010rmj.1_Missense_Mutation_p.D260H|STX5_uc001nvj.2_Missense_Mutation_p.D75H NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 260 Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 ACCTGCTCGTCAATGAGCTGC 0.572 NA 10 85 0 0 0.000978159 0 0 DPF2 5977 broad.mit.edu 37 11 65113187 65113187 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:65113187C>T uc001odm.2 + 7 700 c.688C>T c.(688-690)CAC>TAC p.H230Y DPF2_uc001odn.2_Missense_Mutation_p.H244Y|DPF2_uc010roe.1_Intron NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 230 C2H2-type. apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 CCACTATGCCCACTCCCACTT 0.517 NA 6 52 0 0 0.00116845 0 0 SPTBN2 6712 broad.mit.edu 37 11 66460088 66460088 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:66460088C>T uc001ojd.2 - 25 5181 c.5109G>A c.(5107-5109)CTG>CTA p.L1703L NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1703 Spectrin 14. 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 CCAGGTCATCCAGCTCGCGGC 0.677 NA 5 37 0 0 0.000602214 0 0 SHANK2 22941 broad.mit.edu 37 11 70332188 70332188 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:70332188C>A uc001oqc.2 - 21 4288 c.4210G>T c.(4210-4212)GAT>TAT p.D1404Y SHANK2_uc010rqn.1_Missense_Mutation_p.D816Y|SHANK2_uc001opz.2_Missense_Mutation_p.D809Y|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1025 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AAAATAAAATCCTCATCCAAG 0.552 NA 10 66 1.08611e-07 6.36488e-07 0.000978159 1 0 KIAA1377 57562 broad.mit.edu 37 11 101786027 101786027 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:101786027G>A uc001pgm.2 + 1 282 c.12G>A c.(10-12)GGG>GGA p.G4G ANGPTL5_uc001pgl.2_Intron NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 4 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TGCTGGCGGGGAGGCCCGGAA 0.701 NA 6 52 0 0 0.00116845 0 0 CCDC77 84318 broad.mit.edu 37 12 541095 541095 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:541095G>C uc001qig.2 + 8 827 c.647G>C c.(646-648)AGA>ACA p.R216T CCDC77_uc009zdk.2_Missense_Mutation_p.R184T|CCDC77_uc010sdp.1_Missense_Mutation_p.R184T|CCDC77_uc010sdq.1_Missense_Mutation_p.R184T NM_032358 NP_115734 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 isoform a 216 Potential. centrosome ovary(1) 1 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) CATTACCAAAGAGACATACAG 0.378 NA 8 50 0 0 0.000673444 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|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.G12N(6)|p.G12G(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) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 16 0 0 6.4e-05 0 0 ACVRL1 94 broad.mit.edu 37 12 52314550 52314550 + Nonsense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:52314550C>G uc001rzj.2 + 10 1668 c.1385C>G c.(1384-1386)TCA>TGA p.S462* ACVRL1_uc001rzk.2_Nonsense_Mutation_p.S462*|ACVRL1_uc010snm.1_Nonsense_Mutation_p.S288* NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 462 Cytoplasmic (Potential).|Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CAGGTCCTCTCAGGCCTAGCT 0.368 NA Hereditary_Hemorrhagic_Telangiectasia 4 27 0 0 0.000602214 0 0 KRT80 144501 broad.mit.edu 37 12 52565271 52565271 + Nonsense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:52565271G>A uc001rzx.2 - 9 1368 c.1270C>T c.(1270-1272)CGA>TGA p.R424* KRT80_uc001rzw.2_Nonsense_Mutation_p.R459*|KRT80_uc001rzy.2_3'UTR NM_182507 NP_872313 Q6KB66 K2C80_HUMAN keratin 80 isoform a 424 Tail. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.108) TTCTTCTTTCGGGAGGGGGCC 0.562 GBM(178;2309 2916 15678 35873) NA 13 72 0 0 0.00136819 0 0 PAN2 9924 broad.mit.edu 37 12 56712094 56712094 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:56712094G>A uc001skx.2 - 25 3874 c.3501C>T c.(3499-3501)CTC>CTT p.L1167L CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Silent_p.L315L|PAN2_uc001skz.2_Silent_p.L1166L|PAN2_uc001sky.2_Silent_p.L1163L NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 1167 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 AAAGACCCTTGAGCACCTTGT 0.512 NA 25 112 0 0 0.000878237 0 0 GEFT 115557 broad.mit.edu 37 12 58009310 58009310 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:58009310C>G uc001spb.2 + 12 1514 c.1054C>G c.(1054-1056)CAG>GAG p.Q352E GEFT_uc009zpy.2_Missense_Mutation_p.Q391E|GEFT_uc001soz.1_Missense_Mutation_p.Q200E|GEFT_uc001spa.2_Missense_Mutation_p.Q246E|uc001spc.2_RNA|GEFT_uc001spd.2_Missense_Mutation_p.Q57E NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 352 PH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) ACTGACTGCTCAGGGGAAGCT 0.552 NA 9 58 0 0 0.000274275 0 0 YEATS4 8089 broad.mit.edu 37 12 69783951 69783951 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:69783951G>C uc001sux.2 + 7 760 c.539G>C c.(538-540)AGA>ACA p.R180T NM_006530 NP_006521 O95619 YETS4_HUMAN glioma-amplified sequence-41 180 Interaction with MLLT10.|Potential.|Interaction with TACC1. histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton 0 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) GTGAAAACCAGAGAAAAATTA 0.294 NA 5 28 0 0 0.000602214 0 0 LGR5 8549 broad.mit.edu 37 12 71978333 71978333 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:71978333G>A uc001swl.2 + 18 2591 c.2543G>A c.(2542-2544)AGC>AAC p.S848N LGR5_uc001swm.2_Missense_Mutation_p.S824N|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 848 Cytoplasmic (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 AAACACCCAAGCTTGATGTCA 0.448 NA 6 102 0 0 0.00116845 0 0 OSBPL8 114882 broad.mit.edu 37 12 76763510 76763510 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:76763510G>C uc001sye.1 - 20 2627 c.2147C>G c.(2146-2148)GCT>GGT p.A716G OSBPL8_uc001syf.1_Missense_Mutation_p.A674G|OSBPL8_uc001syg.1_Missense_Mutation_p.A674G|OSBPL8_uc001syh.1_Missense_Mutation_p.A691G NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 716 lipid transport lipid binding ovary(1) 1 ATCCCTGGCAGCTTGTCTTTG 0.413 NA 7 52 0 0 0.000157383 0 0 USP44 84101 broad.mit.edu 37 12 95912001 95912001 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:95912001G>C uc001teg.2 - 6 2212 c.2068C>G c.(2068-2070)CCA>GCA p.P690A USP44_uc001teh.2_Missense_Mutation_p.P690A|USP44_uc009zte.2_Missense_Mutation_p.P687A NM_001042403 NP_001035862 Q9H0E7 UBP44_HUMAN ubiquitin thiolesterase 44 690 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1)|breast(1)|central_nervous_system(1) 3 AGGAGCTCTGGAGGCAAAAGT 0.433 NA 5 69 0 0 0.00116845 0 0 POLR3B 55703 broad.mit.edu 37 12 106853102 106853102 + Silent SNP A A T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:106853102A>T uc001tlp.2 + 22 2748 c.2526A>T c.(2524-2526)GGA>GGT p.G842G POLR3B_uc001tlq.2_Silent_p.G784G NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 842 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 CTTTGGAAGGAAGTAATGTAC 0.378 NA 7 59 0 0 8.12818e-05 0 0 CUX2 23316 broad.mit.edu 37 12 111742083 111742083 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:111742083C>A uc001tsa.1 + 10 976 c.823C>A c.(823-825)CGC>AGC p.R275S NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 275 Potential. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CAGCTCCATCCGCCTGGCTTG 0.642 NA 8 21 7.48243e-07 4.2912e-06 0.000442599 1 0 DNAH10 196385 broad.mit.edu 37 12 124274575 124274575 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr12:124274575C>T uc001uft.3 + 11 1564 c.1539C>T c.(1537-1539)GTC>GTT p.V513V DNAH10_uc010tav.1_5'UTR|DNAH10_uc010taw.1_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 513 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACGGCCTAGTCACCCCCATGG 0.468 NA 19 152 0 0 0.00188189 0 0 MYO16 23026 broad.mit.edu 37 13 109540774 109540774 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr13:109540774C>T uc001vqt.1 + 14 1668 c.1542C>T c.(1540-1542)CTC>CTT p.L514L MYO16_uc010agk.1_Silent_p.L536L|MYO16_uc001vqu.1_Silent_p.L314L|MYO16_uc010tjh.1_Silent_p.L26L NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 514 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TAAGACACCTCACCTGCAGGG 0.443 NA 7 70 0 0 0.000442599 0 0 AKAP6 9472 broad.mit.edu 37 14 33014499 33014499 + Missense_Mutation SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr14:33014499A>G uc001wrq.2 + 4 810 c.640A>G c.(640-642)AAT>GAT p.N214D AKAP6_uc010aml.2_Missense_Mutation_p.N211D NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 214 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATGTTCTCAAAATTACTTGTC 0.438 Melanoma(49;821 1200 7288 13647 42351) NA 13 168 0 0 0.00136819 0 0 PPM1A 5494 broad.mit.edu 37 14 60749757 60749757 + Missense_Mutation SNP G G A rs143557303 TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr14:60749757G>A uc010apn.2 + 3 738 c.336G>A c.(334-336)ATG>ATA p.M112I PPM1A_uc001xew.3_Missense_Mutation_p.M185I|PPM1A_uc001xex.3_Missense_Mutation_p.M112I|PPM1A_uc001xey.3_Missense_Mutation_p.M112I NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 112 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) ATGAACACATGAGAGTTATGT 0.403 NA 11 56 0 0 0.000978159 0 0 SYNE2 23224 broad.mit.edu 37 14 64469512 64469512 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr14:64469512G>A uc001xgm.2 + 30 4091 c.3861G>A c.(3859-3861)AAG>AAA p.K1287K SYNE2_uc001xgl.2_Silent_p.K1287K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1287 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTGTATTAAAGGAGTTACACC 0.343 NA 8 63 0 0 0.000274275 0 0 SNW1 22938 broad.mit.edu 37 14 78189587 78189587 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr14:78189587C>A uc001xuf.2 - 11 1094 c.1067G>T c.(1066-1068)CGG>CTG p.R356L SNW1_uc010tvm.1_Missense_Mutation_p.R281L|SNW1_uc010asu.2_Missense_Mutation_p.R194L|SNW1_uc010tvn.1_Missense_Mutation_p.R356L NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 356 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CCTGTCATGCCGGATTTCATC 0.443 NA 32 88 8.73648e-17 5.66394e-16 0.000814825 1 0 AHNAK2 113146 broad.mit.edu 37 14 105418167 105418167 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr14:105418167C>G uc010axc.1 - 7 3741 c.3621G>C c.(3619-3621)AAG>AAC p.K1207N AHNAK2_uc001ypx.2_Missense_Mutation_p.K1107N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1207 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGTCAGTGGTCTTGAGGTCCC 0.662 NA 20 161 0 0 0.000295444 0 0 UBE3A 7337 broad.mit.edu 37 15 25599501 25599501 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr15:25599501T>A uc001zaq.2 - 9 2362 c.2362A>T c.(2362-2364)AGG>TGG p.R788W uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.R765W|UBE3A_uc001zas.2_Missense_Mutation_p.R785W|UBE3A_uc001zat.2_Missense_Mutation_p.R765W NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 788 HECT. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GTACCTCACCTAATCAGAACA 0.383 NA 5 29 0 0 0.00116845 0 0 SPRED1 161742 broad.mit.edu 37 15 38643583 38643583 + Missense_Mutation SNP A A C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr15:38643583A>C uc001zka.3 + 7 1388 c.1053A>C c.(1051-1053)AAA>AAC p.K351N NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 351 SPR. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTAGGGGAAAATGTCAGGATG 0.393 Melanoma(196;2146 2959 7698 16532) NA Legius_syndrome 8 80 0 0 0.000274275 0 0 LCMT2 9836 broad.mit.edu 37 15 43621554 43621554 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr15:43621554C>A uc001zrg.2 - 1 1338 c.1134G>T c.(1132-1134)GAG>GAT p.E378D LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 378 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GCCCCTCCTGCTCTCCAAATC 0.542 NA 19 40 6.94344e-10 4.35425e-09 0.00074312 1 0 FAM63B 54629 broad.mit.edu 37 15 59144100 59144100 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr15:59144100C>G uc002afj.2 + 8 1875 c.1673C>G c.(1672-1674)TCT>TGT p.S558C FAM63B_uc002afi.2_Missense_Mutation_p.S558C|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 558 Gln-rich. central_nervous_system(1) 1 AGACGGGCTTCTCAATACTAT 0.453 NA 11 54 0 0 0.000978159 0 0 LRRC49 54839 broad.mit.edu 37 15 71256259 71256259 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr15:71256259G>T uc002asw.2 + 9 1156 c.909G>T c.(907-909)ATG>ATT p.M303I LRRC49_uc002asu.2_Missense_Mutation_p.M293I|LRRC49_uc002asx.2_Missense_Mutation_p.M259I|LRRC49_uc010ukf.1_Missense_Mutation_p.M308I|LRRC49_uc002asy.2_Missense_Mutation_p.M9I|LRRC49_uc002asz.2_Missense_Mutation_p.M275I NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 303 Potential.|LRRCT. cytoplasm|microtubule ovary(1) 1 AGCTAGATATGAAGAGAATCA 0.448 NA 8 63 5.18039e-06 2.9458e-05 0.000157383 1 0 A2BP1 54715 broad.mit.edu 37 16 7645644 7645645 + Splice_Site DNP GT GT TC TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr16:7645644_7645645GT>TC uc002cys.2 + 8 1549 c.561_splice c.e8+1 p.E187_splice A2BP1_uc010buf.1_Splice_Site_p.E187_splice|A2BP1_uc002cyr.1_Splice_Site_p.E186_splice|A2BP1_uc002cyt.2_Splice_Site_p.E187_splice|A2BP1_uc010uxz.1_Splice_Site_p.E230_splice|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Splice_Site_p.E187_splice|A2BP1_uc010uyb.1_Splice_Site_p.E187_splice|A2BP1_uc002cyw.2_Splice_Site_p.E207_splice|A2BP1_uc002cyy.2_Splice_Site_p.E207_splice|A2BP1_uc002cyx.2_Splice_Site_p.E207_splice|A2BP1_uc010uyc.1_Splice_Site_p.E207_splice NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TAAAATCGAGGTGCATGTTCAA 0.446 NA 7 106 0 0 6.4e-05 0 0 ACSM2A 123876 broad.mit.edu 37 16 20494500 20494500 + Splice_Site SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr16:20494500G>T uc010bwe.2 + 14 1868 c.1629_splice c.e14+1 p.K543_splice ACSM2A_uc002dhf.3_Splice_Site_p.K543_splice|ACSM2A_uc002dhg.3_Splice_Site_p.K543_splice|ACSM2A_uc010vay.1_Splice_Site_p.K464_splice|ACSM2A_uc002dhh.3_Splice_Site_p.K173_splice NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CCCAAGAAAGGTAAGGCCTTT 0.463 NA 21 116 2.98393e-07 1.73352e-06 0.000375601 1 0 ITGAL 3683 broad.mit.edu 37 16 30490755 30490755 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr16:30490755G>A uc002dyi.3 + 6 725 c.549G>A c.(547-549)ATG>ATA p.M183I ITGAL_uc010veu.1_Intron|ITGAL_uc002dyj.3_Intron|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 183 VWFA.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) AGGATGTGATGAAGAAACTCA 0.284 NSCLC(110;1462 1641 3311 33990 49495) NA 5 36 0 0 0.00116845 0 0 ARMC5 79798 broad.mit.edu 37 16 31477721 31477721 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr16:31477721C>G uc002ecc.2 + 6 2848 c.2319C>G c.(2317-2319)TTC>TTG p.F773L ARMC5_uc010vfn.1_Missense_Mutation_p.F868L|ARMC5_uc010vfo.1_Missense_Mutation_p.F805L|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.F581L|ARMC5_uc002ecb.2_3'UTR NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 773 BTB. binding pancreas(1) 1 CCTCCCCTTTCTTCCGGGCCC 0.677 NA 3 19 0 0 6.4e-05 0 0 ZNF423 23090 broad.mit.edu 37 16 49671869 49671869 + Silent SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr16:49671869C>A uc002efs.2 - 5 1492 c.1194G>T c.(1192-1194)CGG>CGT p.R398R ZNF423_uc010vgn.1_Silent_p.R281R NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 398 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCCCGTCATCCCGCATCTTCT 0.632 NA 7 42 8.12818e-05 0.00044889 8.12818e-05 1 0 CIAPIN1 57019 broad.mit.edu 37 16 57473209 57473209 + Silent SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr16:57473209T>A uc002ell.1 - 3 366 c.195A>T c.(193-195)TCA>TCT p.S65S CIAPIN1_uc002elk.1_RNA|CIAPIN1_uc002elm.1_Splice_Site_p.C53_splice|CIAPIN1_uc002eln.1_Silent_p.S65S|CIAPIN1_uc010cda.1_Silent_p.S65S|CIAPIN1_uc002elo.1_Silent_p.S65S|CIAPIN1_uc010vhm.1_Silent_p.S65S NM_020313 NP_064709 Q6FI81 CPIN1_HUMAN cytokine induced apoptosis inhibitor 1 65 anti-apoptosis|apoptosis cytoplasm|nucleolus 0 GGACTAAACCTGACAAAATAA 0.493 NA 54 120 0 0 0.000781405 0 0 GGT6 124975 broad.mit.edu 37 17 4463036 4463036 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr17:4463036G>A uc002fyd.3 - 2 220 c.160C>T c.(160-162)CCC>TCC p.P54S GGT6_uc010vsb.1_5'UTR|GGT6_uc002fyc.3_Missense_Mutation_p.P54S|GGT6_uc010vsc.1_Missense_Mutation_p.P54S NM_001122890 NP_001116362 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 isoform a 54 Cytoplasmic (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity skin(1) 1 CAGGTTCCGGGCAGCCCGCCA 0.657 NA 7 17 0 0 8.12818e-05 0 0 MYH2 4620 broad.mit.edu 37 17 10429036 10429036 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr17:10429036C>T uc010coi.2 - 31 4473 c.4345G>A c.(4345-4347)GAC>AAC p.D1449N uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.D1449N|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1449 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TGCTTTTTGTCAAGGGCGGCA 0.483 NA 13 77 0 0 0.000219431 0 0 DNAH9 1770 broad.mit.edu 37 17 11631181 11631181 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr17:11631181G>T uc002gne.2 + 28 5824 c.5756G>T c.(5755-5757)GGC>GTC p.G1919V DNAH9_uc010coo.2_Missense_Mutation_p.G1213V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1919 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGTGCCTGGGGCTGCTTTGAT 0.483 NA 8 42 1.33987e-11 8.48163e-11 0.000673444 1 0 SLC47A1 55244 broad.mit.edu 37 17 19470429 19470429 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr17:19470429G>A uc002gvy.1 + 14 1283 c.1197G>A c.(1195-1197)CTG>CTA p.L399L SLC47A1_uc002gvx.2_Silent_p.L399L|SLC47A1_uc010vyz.1_Silent_p.L376L|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Silent_p.L204L|SLC47A1_uc010vza.1_Silent_p.L111L|SLC47A1_uc010vzb.1_Silent_p.L133L|SLC47A1_uc010vzc.1_Silent_p.L71L NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 399 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GTGGTGTTCTGAGGGGGAGTG 0.532 NA 25 169 0 0 0.000586117 0 0 MAP2K3 5606 broad.mit.edu 37 17 21206516 21206516 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr17:21206516C>G uc002gys.2 + 7 803 c.538C>G c.(538-540)CTG>GTG p.L180V MAP2K3_uc002gyt.2_Missense_Mutation_p.L151V|MAP2K3_uc002gyu.2_Missense_Mutation_p.L151V NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 180 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CCTGGAGCATCTGCACAGCAA 0.627 NA 3 18 0 0 0.000602214 0 0 GGNBP2 79893 broad.mit.edu 37 17 34923616 34923616 + Splice_Site SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr17:34923616G>A uc002hnb.2 + 6 890 c.641_splice c.e6+1 p.R214_splice GGNBP2_uc002hna.2_Splice_Site_p.R214_splice NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GAAAACACAGGTAAGTCTGAT 0.408 NA 5 23 0 0 0.000602214 0 0 OR4D2 124538 broad.mit.edu 37 17 56247649 56247649 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr17:56247649C>G uc010wnp.1 + 1 633 c.633C>G c.(631-633)TTC>TTG p.F211L NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TCGTCTGGTTCTTCCTCCTCC 0.537 NA 26 68 0 0 0.00106085 0 0 RGS9 8787 broad.mit.edu 37 17 63186341 63186341 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr17:63186341G>C uc002jfe.2 + 11 843 c.733G>C c.(733-735)GTG>CTG p.V245L RGS9_uc010dem.2_Missense_Mutation_p.V242L|RGS9_uc002jfd.2_Missense_Mutation_p.V242L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.V16L NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 245 G protein gamma. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 GAAGTCTTCTGTGTCCCTGGG 0.478 NA 121 222 0 0 0.000781405 0 0 ASXL3 80816 broad.mit.edu 37 18 31318481 31318481 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr18:31318481G>A uc010dmg.1 + 11 1168 c.1113G>A c.(1111-1113)AAG>AAA p.K371K ASXL3_uc002kxq.2_Silent_p.K78K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AATCTGTGAAGCTCACTACTG 0.448 NA 12 26 0 0 0.00136819 0 0 RTTN 25914 broad.mit.edu 37 18 67687924 67687924 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr18:67687924G>A uc002lkp.2 - 45 6148 c.6080C>T c.(6079-6081)ACG>ATG p.T2027M RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.T1115M|RTTN_uc002lkn.2_Missense_Mutation_p.T17M|RTTN_uc010dqp.2_Missense_Mutation_p.T279M NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 2027 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CTGCTGAACCGTGGTGTTCTC 0.473 NA 12 111 0 0 0.00185496 0 0 MED16 10025 broad.mit.edu 37 19 873486 873486 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:873486T>A uc002lqd.1 - 11 2019 c.1868A>T c.(1867-1869)GAC>GTC p.D623V MED16_uc010drw.1_Missense_Mutation_p.D448V|MED16_uc002lqe.2_Missense_Mutation_p.D612V|MED16_uc002lqf.2_Missense_Mutation_p.D612V|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.D543V|MED16_uc010xfx.1_Missense_Mutation_p.D468V|MED16_uc010xfy.1_Missense_Mutation_p.D200V NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 623 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCACGAAGTCGCCCACCCA 0.612 NA 19 38 0 0 0.00152264 0 0 SBNO2 22904 broad.mit.edu 37 19 1113547 1113547 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:1113547T>A uc002lrk.3 - 19 2472 c.2234A>T c.(2233-2235)CAG>CTG p.Q745L SBNO2_uc002lrj.3_Missense_Mutation_p.Q688L|SBNO2_uc010dse.2_Missense_Mutation_p.Q728L|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 745 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 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)|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)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCACCCGCTGGGGGCCGCC 0.697 NA 5 10 0 0 0.00116845 0 0 C19orf35 374872 broad.mit.edu 37 19 2276204 2276204 + Silent SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:2276204G>C uc002lvn.2 - 4 997 c.897C>G c.(895-897)GGC>GGG p.G299G SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN hypothetical protein LOC374872 299 pancreas(1) 1 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)|STAD - Stomach adenocarcinoma(1328;0.18) CTAGGGCCGCGCCCCACGCCT 0.711 NA 2 1 0 0 6.4e-05 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4499589 4499589 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:4499589G>A uc002mao.2 + 14 1770 c.1677G>A c.(1675-1677)CAG>CAA p.Q559Q HDGFRP2_uc002map.2_Silent_p.Q559Q|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Silent_p.Q24Q|HDGFRP2_uc002maq.1_Silent_p.Q24Q NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 559 Potential. transcription, DNA-dependent nucleus DNA binding|protein binding 0 aggcggtgcagaaagtgaaca 0.244 NA 4 16 0 0 0.00024832 0 0 DCAF15 90379 broad.mit.edu 37 19 14065430 14065430 + Missense_Mutation SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:14065430A>G uc002mxt.2 + 3 329 c.323A>G c.(322-324)CAT>CGT p.H108R PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 108 central_nervous_system(1) 1 TACATCTACCATCTGTACTGG 0.493 NA 9 57 0 0 0.000673444 0 0 CHERP 10523 broad.mit.edu 37 19 16633869 16633869 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:16633869G>A uc002nei.1 - 11 2048 c.1974C>T c.(1972-1974)CTC>CTT p.L658L MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Silent_p.L197L NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 658 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 TTACCTTCACGAGGGGGGCCA 0.607 NA 7 54 0 0 0.000157383 0 0 ZNF676 163223 broad.mit.edu 37 19 22363504 22363504 + Missense_Mutation SNP A A T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:22363504A>T uc002nqs.1 - 3 1333 c.1015T>A c.(1015-1017)TGT>AGT p.C339S NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 339 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CATTCTTCACATTTGTAGGGT 0.413 NA 20 66 0 0 0.00152264 0 0 ZFP82 284406 broad.mit.edu 37 19 36883908 36883908 + Missense_Mutation SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:36883908A>G uc002ody.1 - 5 1569 c.1334T>C c.(1333-1335)ATT>ACT p.I445T NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 TTTCTCACCAATATGAATACT 0.408 NA 9 72 0 0 0.000442599 0 0 FCGBP 8857 broad.mit.edu 37 19 40366480 40366480 + Nonsense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:40366480G>C uc002omp.3 - 30 13762 c.13754C>G c.(13753-13755)TCA>TGA p.S4585* NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4585 VWFD 11. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGAGAGCCCTGAGGTTGTGGT 0.672 NA 7 65 0 0 0.000157383 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594951 41594951 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:41594951G>A uc002opt.2 + 2 307 c.298G>A c.(298-300)GGG>AGG p.G100R NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 100 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) GGAGTTCAGCGGGCGAGGCGA 0.642 NA 9 43 0 0 0.000274275 0 0 PSG5 5673 broad.mit.edu 37 19 43679469 43679469 + Missense_Mutation SNP T T C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:43679469T>C uc002ovu.2 - 4 993 c.862A>G c.(862-864)ATC>GTC p.I288V PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.I163V|PSG5_uc002ovx.2_Missense_Mutation_p.I288V|PSG5_uc002ovv.2_Missense_Mutation_p.I381V|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 288 Ig-like C2-type 2. I -> M (in Ref. 3; AAA36514). female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) ATTTGGGGGATAGAGAGCTTT 0.448 NA 29 369 0 0 0.00127121 0 0 PSG5 5673 broad.mit.edu 37 19 43679557 43679557 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:43679557G>A uc002ovu.2 - 4 905 c.774C>T c.(772-774)TAC>TAT p.Y258Y PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Silent_p.Y133Y|PSG5_uc002ovx.2_Silent_p.Y258Y|PSG5_uc002ovv.2_Silent_p.Y351Y|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 258 Ig-like C2-type 2. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) AGCAGGACAAGTAGAGGTTTT 0.458 NA 58 316 0 0 0.000781405 0 0 SLC17A7 57030 broad.mit.edu 37 19 49934332 49934332 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:49934332G>A uc002pnp.2 - 11 1501 c.1329C>T c.(1327-1329)GGC>GGT p.G443G SLC17A7_uc002pno.2_Silent_p.G105G NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 443 Helical; (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GTGTGCCCACGCCGTTGGAGA 0.622 NA 6 29 0 0 8.12818e-05 0 0 ZNF761 388561 broad.mit.edu 37 19 53952852 53952852 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:53952852G>T uc010eqp.2 + 5 561 c.103G>T c.(103-105)GAC>TAC p.D35Y ZNF761_uc002qbr.2_RNA|ZNF761_uc010ydy.1_5'UTR|ZNF761_uc002qbs.2_RNA|ZNF761_uc002qbt.1_5'Flank NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TCTATACAGGGACGTGATGCT 0.468 NA 10 39 7.03913e-09 4.27444e-08 0.00136819 1 0 ZNF761 388561 broad.mit.edu 37 19 53959377 53959377 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:53959377G>C uc010eqp.2 + 7 2074 c.1616G>C c.(1615-1617)TGC>TCC p.C539S ZNF761_uc010ydy.1_Missense_Mutation_p.C485S|ZNF761_uc002qbt.1_Missense_Mutation_p.C485S NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 539 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TCCCTTACCTGCCATCGTAGA 0.438 NA 20 95 0 0 0.00121646 0 0 LILRB2 10288 broad.mit.edu 37 19 54778622 54778622 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:54778622C>T uc002qfb.2 - 14 1978 c.1712G>A c.(1711-1713)AGA>AAA p.R571K LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_3'UTR|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.R570K|LILRB2_uc010yet.1_Missense_Mutation_p.R455K NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 571 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGCCTTCCGTCTGAGGGTCAA 0.632 NA 9 83 0 0 0.000274275 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55605745 55605745 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:55605745G>A uc002qix.2 - 13 1667 c.1651C>T c.(1651-1653)CGT>TGT p.R551C PPP1R12C_uc010yfs.1_Missense_Mutation_p.R477C|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R550C NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 551 cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CGCATGAGACGGGAGCGAGCT 0.438 NA 9 71 0 0 0.000442599 0 0 ZNF132 7691 broad.mit.edu 37 19 58945293 58945293 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr19:58945293C>G uc002qst.3 - 3 1919 c.1518G>C c.(1516-1518)CAG>CAC p.Q506H NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 506 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TATGTACTTTCTGGTGCTGGA 0.488 NA 9 51 0 0 0.000442599 0 0 RNASEH1 246243 broad.mit.edu 37 2 3596229 3596229 + Splice_Site SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:3596229C>G uc002qxt.2 - 6 739 c.649_splice c.e6+1 p.G217_splice RNASEH1_uc002qxs.2_Splice_Site_p.G100_splice NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) TGAAAGCTTACCATTTATCGT 0.413 NA 3 38 0 0 0.00024832 0 0 OSR1 130497 broad.mit.edu 37 2 19553422 19553422 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:19553422C>A uc002rdc.2 - 2 448 c.145G>T c.(145-147)GCT>TCT p.A49S NM_145260 NP_660303 Q8TAX0 OSR1_HUMAN odd-skipped related 1 49 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) AGGTGCACAGCGTGCAACGCG 0.612 NA 5 19 1.23904e-05 6.98652e-05 0.000602214 1 0 CAPN13 92291 broad.mit.edu 37 2 30985980 30985980 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:30985980G>A uc002rnn.2 - 7 918 c.742C>T c.(742-744)CTC>TTC p.L248F CAPN13_uc002rnp.1_Missense_Mutation_p.L248F NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 248 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TAGGCATGGAGACTCACCAGC 0.522 NA 5 19 0 0 0.00116845 0 0 SPAST 6683 broad.mit.edu 37 2 32339713 32339713 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:32339713G>C uc002roc.2 + 5 910 c.689G>C c.(688-690)GGA>GCA p.G230A SPAST_uc002rod.2_Missense_Mutation_p.G198A NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 230 Required for interaction with RTN1.|Sufficient for microtubule severing.|Sufficient for interaction with microtubules. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCAGAAAGTGGAGCTGTTCCA 0.358 NA 6 44 0 0 0.00116845 0 0 THADA 63892 broad.mit.edu 37 2 43797537 43797537 + Missense_Mutation SNP T T C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:43797537T>C uc002rsw.3 - 14 2529 c.2177A>G c.(2176-2178)CAG>CGG p.Q726R THADA_uc010far.2_5'UTR|THADA_uc002rsx.3_Missense_Mutation_p.Q726R|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.Q436R|THADA_uc010fat.1_5'UTR|THADA_uc002rta.2_Missense_Mutation_p.Q436R|THADA_uc002rtb.1_Missense_Mutation_p.Q726R|THADA_uc002rtc.3_Missense_Mutation_p.Q726R|THADA_uc002rtd.2_Missense_Mutation_p.Q726R NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 726 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTTATACTGCTGTAAAGAAAC 0.313 NA 6 44 0 0 0.000274275 0 0 CYP26B1 56603 broad.mit.edu 37 2 72360361 72360361 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:72360361G>A uc002sih.1 - 5 937 c.937C>T c.(937-939)CTG>TTG p.L313L CYP26B1_uc010yra.1_Silent_p.L296L|CYP26B1_uc010yrb.1_Silent_p.L238L NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 313 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 GGGTGCTTCAGCAGCTGCATG 0.652 NA 4 20 0 0 0.00024832 0 0 ALMS1 7840 broad.mit.edu 37 2 73830384 73830384 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:73830384G>A uc002sje.1 + 23 12429 c.12318G>A c.(12316-12318)CAG>CAA p.Q4106Q ALMS1_uc002sjf.1_Silent_p.Q4062Q|ALMS1_uc002sjh.1_Silent_p.Q3492Q NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4104 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TGGCTATCCAGAAGAACAAGC 0.478 NA 7 36 0 0 0.000274275 0 0 DCTN1 1639 broad.mit.edu 37 2 74604792 74604792 + Nonsense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:74604792G>C uc002skx.2 - 3 652 c.341C>G c.(340-342)TCA>TGA p.S114* DCTN1_uc002skv.2_5'Flank|DCTN1_uc002sku.2_5'Flank|DCTN1_uc002skw.1_Nonsense_Mutation_p.S97*|DCTN1_uc010ffd.2_Nonsense_Mutation_p.S114*|DCTN1_uc002sky.2_Nonsense_Mutation_p.S97* NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 114 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 GAGGACTTTTGAAGCAGAAGA 0.468 NA 9 90 0 0 0.000673444 0 0 REG3G 130120 broad.mit.edu 37 2 79254244 79254244 + Missense_Mutation SNP A A T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:79254244A>T uc002snw.2 + 4 365 c.280A>T c.(280-282)AGC>TGC p.S94C REG3G_uc002snx.2_Missense_Mutation_p.S94C|REG3G_uc010ffu.2_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 94 C-type lectin. acute-phase response extracellular region sugar binding 0 CCTGGTGAGGAGCATTAGTAA 0.537 NA 18 96 0 0 0.00152264 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125405345 125405345 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:125405345C>G uc002tno.2 + 13 2248 c.1884C>G c.(1882-1884)ATC>ATG p.I628M CNTNAP5_uc010flu.2_Missense_Mutation_p.I629M NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 628 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGGACAAGATCTGGACATCAG 0.547 NA 4 22 0 0 0.00024832 0 0 LRP1B 53353 broad.mit.edu 37 2 141641532 141641532 + Silent SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:141641532T>A uc002tvj.1 - 25 4995 c.4023A>T c.(4021-4023)ACA>ACT p.T1341T LRP1B_uc010fnl.1_Silent_p.T523T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1341 Extracellular (Potential).|LDL-receptor class B 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCCAGTCGACTGTCAGGCCTT 0.473 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 14 106 0 0 0.000308642 0 0 LRP1B 53353 broad.mit.edu 37 2 141773358 141773358 + Silent SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:141773358A>G uc002tvj.1 - 13 3069 c.2097T>C c.(2095-2097)GGT>GGC p.G699G LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 699 Extracellular (Potential).|LDL-receptor class B 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAGAGTTAAACCGTTTGGCC 0.408 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 9 39 0 0 0.000274275 0 0 FIGN 55137 broad.mit.edu 37 2 164466757 164466757 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:164466757C>A uc002uck.1 - 3 1896 c.1585G>T c.(1585-1587)GGG>TGG p.G529W NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 529 ATP (By similarity). nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TTGCCTGTCCCCCGAGGTCCA 0.512 NA 11 40 0.000978159 0.00527184 0.000978159 1 0 FIGN 55137 broad.mit.edu 37 2 164467138 164467138 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:164467138G>A uc002uck.1 - 3 1515 c.1204C>T c.(1204-1206)CCT>TCT p.P402S NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 402 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CTGTAGGAAGGAGGGGTCAGA 0.473 NA 14 69 0 0 0.000219431 0 0 XIRP2 129446 broad.mit.edu 37 2 167760039 167760039 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:167760039G>T uc002udx.2 + 1 65 c.47G>T c.(46-48)TGG>TTG p.W16L XIRP2_uc010fpn.2_Missense_Mutation_p.W16L|XIRP2_uc010fpo.2_Missense_Mutation_p.W16L|XIRP2_uc010fpp.2_Missense_Mutation_p.W16L NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGGCAGAAATGGGAATCTTGT 0.473 NA 5 49 0.000602214 0.00325876 0.000602214 1 0 TTN 7273 broad.mit.edu 37 2 179431323 179431323 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:179431323G>C uc010zfg.1 - 275 72056 c.71832C>G c.(71830-71832)ATC>ATG p.I23944M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I17639M|TTN_uc010zfi.1_Missense_Mutation_p.I17572M|TTN_uc010zfj.1_Missense_Mutation_p.I17447M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24871 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) CGCCATCATAGATGGGTTTAC 0.443 NA 29 220 0 0 0.00127121 0 0 TTN 7273 broad.mit.edu 37 2 179439646 179439646 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:179439646T>A uc010zfg.1 - 275 63733 c.63509A>T c.(63508-63510)GAA>GTA p.E21170V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E14865V|TTN_uc010zfi.1_Missense_Mutation_p.E14798V|TTN_uc010zfj.1_Missense_Mutation_p.E14673V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22097 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) AGATGAAACTTCATCAAATTT 0.448 NA 5 19 0 0 0.00116845 0 0 SSFA2 6744 broad.mit.edu 37 2 182767109 182767109 + Silent SNP T T C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:182767109T>C uc002uoi.2 + 8 1651 c.1329T>C c.(1327-1329)CCT>CCC p.P443P SSFA2_uc002uoh.2_Silent_p.P443P|SSFA2_uc002uoj.2_Silent_p.P443P|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Silent_p.P290P|SSFA2_uc002uol.2_Silent_p.P290P NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 443 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TATCCACACCTGAAAAAGAGC 0.393 NA 4 50 0 0 0.000602214 0 0 COL5A2 1290 broad.mit.edu 37 2 189929354 189929354 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:189929354C>A uc002uqk.2 - 25 1920 c.1645G>T c.(1645-1647)GGT>TGT p.G549C COL5A2_uc010frx.2_Missense_Mutation_p.G125C NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 549 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTGAAGAACCTACAGGACCC 0.488 NA 19 51 3.5997e-14 2.31139e-13 0.000295444 1 0 ALS2 57679 broad.mit.edu 37 2 202626448 202626448 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr2:202626448C>T uc002uyo.2 - 4 625 c.269G>A c.(268-270)GGG>GAG p.G90E ALS2_uc002uyp.3_Missense_Mutation_p.G90E|ALS2_uc002uyq.2_Missense_Mutation_p.G90E|ALS2_uc002uyr.2_Missense_Mutation_p.G90E NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 90 RCC1 1. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 AACATATTGCCCAACCAGGGC 0.502 NA 17 84 0 0 0.00121646 0 0 PLCB4 5332 broad.mit.edu 37 20 9376236 9376236 + Missense_Mutation SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr20:9376236A>G uc002wnf.2 + 18 1617 c.1481A>G c.(1480-1482)GAG>GGG p.E494G PLCB4_uc010gbw.1_Missense_Mutation_p.E494G|PLCB4_uc010gbx.2_Missense_Mutation_p.E494G|PLCB4_uc002wne.2_Missense_Mutation_p.E494G|PLCB4_uc002wnh.2_Missense_Mutation_p.E341G NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 494 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 AACATCTTAGAGGACGATAAT 0.378 NA 9 63 0 0 0.000673444 0 0 KIF16B 55614 broad.mit.edu 37 20 16493527 16493527 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr20:16493527G>A uc002wpg.1 - 5 548 c.390C>T c.(388-390)TTC>TTT p.F130F KIF16B_uc010gch.1_Silent_p.F130F|KIF16B_uc010gci.1_Silent_p.F130F|KIF16B_uc010gcj.1_Silent_p.F130F NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 130 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TTATCCGACTGAAGAGTCCTT 0.463 NA 6 50 0 0 8.12818e-05 0 0 CHD6 84181 broad.mit.edu 37 20 40161984 40161984 + Nonsense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr20:40161984C>A uc002xka.1 - 3 437 c.259G>T c.(259-261)GGA>TGA p.G87* CHD6_uc002xkd.2_Nonsense_Mutation_p.G65*|CHD6_uc002xkc.2_Nonsense_Mutation_p.G122* NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 87 Poly-Gly. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GTACCTCCTCCTCCACTGTCC 0.507 NA 15 86 1.05317e-09 6.54331e-09 0.000219431 1 0 STAU1 6780 broad.mit.edu 37 20 47768130 47768130 + Nonsense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr20:47768130C>A uc002xud.2 - 5 910 c.499G>T c.(499-501)GAG>TAG p.E167* STAU1_uc002xua.2_Nonsense_Mutation_p.E86*|STAU1_uc002xub.2_Nonsense_Mutation_p.E86*|STAU1_uc002xuc.2_Nonsense_Mutation_p.E86*|STAU1_uc002xue.2_Nonsense_Mutation_p.E86*|STAU1_uc002xuf.2_Nonsense_Mutation_p.E86*|STAU1_uc002xug.2_Nonsense_Mutation_p.E167* NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 167 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TCCAGCCTCTCTGGCAGGGGC 0.547 NA 15 77 1.15088e-07 6.71512e-07 0.000422831 1 0 ATP9A 10079 broad.mit.edu 37 20 50245520 50245520 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr20:50245520T>A uc002xwg.1 - 16 1760 c.1760A>T c.(1759-1761)GAG>GTG p.E587V ATP9A_uc010gih.1_Missense_Mutation_p.E451V|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 587 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CACACTTACCTCTTCCTCCAA 0.448 NA 13 127 0 0 0.00185496 0 0 TAF4 6874 broad.mit.edu 37 20 60551268 60551268 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr20:60551268C>G uc002ybs.2 - 15 3214 c.3214G>C c.(3214-3216)GAG>CAG p.E1072Q NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 1072 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TGGCTTGTCTCACGTTCATTT 0.483 NA 10 89 0 0 0.000673444 0 0 TCF20 6942 broad.mit.edu 37 22 42610586 42610586 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr22:42610586G>A uc003bcj.1 - 1 860 c.726C>T c.(724-726)TCC>TCT p.S242S TCF20_uc003bck.1_Silent_p.S242S|TCF20_uc003bnt.2_Silent_p.S242S NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 242 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 aggaggaggaggaggaggaAG 0.448 NA 10 64 0 0 0.000442599 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272321 43272321 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr22:43272321C>T uc010gzg.2 - 10 1392 c.1170G>A c.(1168-1170)AAG>AAA p.K390K PACSIN2_uc003bdg.3_Silent_p.K390K|PACSIN2_uc003bde.3_Silent_p.K390K|PACSIN2_uc003bdf.3_Silent_p.K349K NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 390 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) AGCTCTGGGTCTTCTCGTAGC 0.627 NA 4 39 0 0 0.000602214 0 0 WNT7A 7476 broad.mit.edu 37 3 13916540 13916540 + Missense_Mutation SNP T T G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:13916540T>G uc003bye.1 - 2 507 c.202A>C c.(202-204)ATG>CTG p.M68L NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 68 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 TCCAGGCCCATTTGTGAGCCT 0.587 NA 4 42 0 0 0.00024832 0 0 GALNTL2 117248 broad.mit.edu 37 3 16237379 16237379 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:16237379G>T uc003car.3 + 2 1127 c.652G>T c.(652-654)GTG>TTG p.V218L GALNTL2_uc003caq.3_5'UTR NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 218 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CCTCGACACAGTGCCCAGGGC 0.617 NA 6 49 3.59834e-05 0.000199544 0.00116845 1 0 KCNH8 131096 broad.mit.edu 37 3 19575178 19575178 + Nonsense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:19575178C>T uc003cbk.1 + 16 3106 c.2911C>T c.(2911-2913)CAA>TAA p.Q971* KCNH8_uc010hex.1_Nonsense_Mutation_p.Q432* NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 971 Ser-rich.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GAGCAGCCCCCAACGAACTGG 0.498 NSCLC(124;1625 1765 8018 24930 42026) NA 19 69 0 0 0.000958276 0 0 ARPP21 10777 broad.mit.edu 37 3 35763130 35763130 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:35763130G>A uc003cgb.2 + 14 1293 c.1029G>A c.(1027-1029)GGG>GGA p.G343G ARPP21_uc003cga.2_Silent_p.G289G|ARPP21_uc011axy.1_Silent_p.G309G|ARPP21_uc003cgf.2_Silent_p.G144G|ARPP21_uc003cgg.2_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 343 Ser-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GAACATCTGGGAGTCGACAGA 0.537 NA 4 32 0 0 0.000602214 0 0 SCN10A 6336 broad.mit.edu 37 3 38739977 38739977 + Silent SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:38739977G>T uc003ciq.2 - 27 4734 c.4734C>A c.(4732-4734)GCC>GCA p.A1578A NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1578 IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGCCAATTCGGGCCAGGCGGA 0.512 NA 17 60 9.16793e-09 5.54205e-08 0.000566183 1 0 SCN11A 11280 broad.mit.edu 37 3 38889071 38889071 + Missense_Mutation SNP A A T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:38889071A>T uc011ays.1 - 26 4689 c.4490T>A c.(4489-4491)CTG>CAG p.L1497Q NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1497 IV. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AATGTTGAACAGAGAAGGAAG 0.473 NA 4 32 0 0 0.00024832 0 0 ZNF445 353274 broad.mit.edu 37 3 44488255 44488255 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:44488255C>G uc003cnf.2 - 8 3256 c.2908G>C c.(2908-2910)GAC>CAC p.D970H ZNF445_uc011azv.1_Missense_Mutation_p.D958H|ZNF445_uc011azw.1_Missense_Mutation_p.D970H NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 970 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) ATGCTTATGTCCTGGAGTCCA 0.443 NA 36 106 0 0 0.000692331 0 0 ZNF167 55888 broad.mit.edu 37 3 44612782 44612782 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:44612782C>T uc010hin.2 + 6 2568 c.2180C>T c.(2179-2181)GCC>GTC p.A727V ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.A727V|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 727 C2H2-type 13. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) TGTGGGAAAGCCTTTAGTCAG 0.453 Esophageal Squamous(121;907 1626 38429 48584 52774) NA 15 95 0 0 0.000308642 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64589620 64589620 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:64589620C>A uc003dmg.2 - 25 3757 c.3725G>T c.(3724-3726)TGG>TTG p.W1242L ADAMTS9_uc011bfo.1_Missense_Mutation_p.W1214L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.W1071L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.W153L NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1242 TSP type-1 8. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAAGGCCTTCCATTGCCCACA 0.557 NA 29 72 1.62565e-12 1.03887e-11 0.000409698 1 0 C3orf38 285237 broad.mit.edu 37 3 88199160 88199160 + Translation_Start_Site SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:88199160G>T uc003dqw.2 + 1 268 c.-43G>T c.(-45--41)TAGGG>TATGG CGGBP1_uc003dqu.2_5'Flank NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) GTGGGCCGTAGGGGCGACATT 0.622 NA 7 20 5.18039e-06 2.9458e-05 0.000157383 1 0 EPHA6 285220 broad.mit.edu 37 3 97311539 97311539 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:97311539C>A uc010how.1 + 12 2513 c.2470C>A c.(2470-2472)CCA>ACA p.P824T EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.P190T|EPHA6_uc003drs.3_Missense_Mutation_p.P216T|EPHA6_uc003drr.3_Missense_Mutation_p.P216T|EPHA6_uc003drt.2_Missense_Mutation_p.P216T|EPHA6_uc010hox.1_Intron NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 729 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GGCCCCGCATCCAGTGCCAGG 0.517 NA 11 21 7.03913e-09 4.27444e-08 0.00136819 1 0 MYH15 22989 broad.mit.edu 37 3 108211363 108211363 + Silent SNP T T C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:108211363T>C uc003dxa.1 - 10 972 c.915A>G c.(913-915)GGA>GGG p.G305G NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 305 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 GCTCTTTTTGTCCAGATAGAA 0.363 NA 10 24 0 0 0.000442599 0 0 GTF2E1 2960 broad.mit.edu 37 3 120489623 120489623 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:120489623C>T uc003edz.3 + 3 611 c.497C>T c.(496-498)TCA>TTA p.S166L NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 166 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) GAGGATGAATCAGCAATGCCC 0.418 NA 17 156 0 0 0.00074312 0 0 STXBP5L 9515 broad.mit.edu 37 3 120876378 120876378 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:120876378G>A uc003eec.3 + 9 921 c.781G>A c.(781-783)GAG>AAG p.E261K STXBP5L_uc011bji.1_Missense_Mutation_p.E261K NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 261 WD 5. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) TTGGCATCATGAGGGCAAACA 0.373 NA 7 29 0 0 8.12818e-05 0 0 PLSCR1 5359 broad.mit.edu 37 3 146246609 146246609 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:146246609C>A uc003evx.3 - 4 492 c.104G>T c.(103-105)GGA>GTA p.G35V PLSCR1_uc003evy.3_Missense_Mutation_p.G28V|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Missense_Mutation_p.G35V NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 35 Cytoplasmic.|WW-binding 2 (Potential). phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 GCCACTATATCCTGGAGGTCC 0.498 NA 8 28 1.76689e-08 1.05385e-07 0.000442599 1 0 SSR3 6747 broad.mit.edu 37 3 156272859 156272859 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:156272859G>A uc003fau.2 - 1 77 c.20C>T c.(19-21)TCC>TTC p.S7F SSR3_uc011bop.1_Missense_Mutation_p.S7F NM_007107 NP_009038 Q9UNL2 SSRG_HUMAN signal sequence receptor gamma subunit 7 Lumenal (Potential). cotranslational protein targeting to membrane integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex protein binding|signal sequence binding 0 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CTGCTGTTTGGAGCTGCCTTT 0.632 NA 6 47 0 0 8.12818e-05 0 0 MUC4 4585 broad.mit.edu 37 3 195498624 195498625 + Missense_Mutation DNP GG GG AC TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr3:195498624_195498625GG>AC uc011bto.1 - 6 13216_13217 c.12756_12757CC>GT c.(12754-12759)AACCCA>AAGTCA p.4252_4253NP>KS MUC4_uc003fuz.2_Missense_Mutation_p.T60S|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Missense_Mutation_p.121_122NP>KS|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Missense_Mutation_p.121_122NP>KS|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Missense_Mutation_p.144_145NP>KS|MUC4_uc003fvp.2_Missense_Mutation_p.93_94NP>KS|MUC4_uc010hzu.1_Missense_Mutation_p.992_993NP>KS NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1137_1138 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTTGGGAGTGGGTTGGGGTAGG 0.559 NA 6 59 0 0 6.4e-05 0 0 DEFB131 644414 broad.mit.edu 37 4 9452085 9452085 + Splice_Site SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr4:9452085G>A uc011bwt.1 + 2 59 c.59_splice c.e2-1 p.A20_splice NM_001040448 NP_001035538 P59861 DB131_HUMAN defensin, beta 131 precursor defense response to bacterium extracellular region 0 TCTTTTTAAAGCCAGAAGCTT 0.279 NA 12 11 0 0 0.000978159 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445956 10445956 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr4:10445956C>T uc003gmn.2 - 3 2484 c.1997G>A c.(1996-1998)CGC>CAC p.R666H NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 666 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 TATCTTTCTGCGCAACAGTTC 0.443 NA 34 71 0 0 0.00111076 0 0 SLC34A2 10568 broad.mit.edu 37 4 25674767 25674767 + Silent SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr4:25674767C>G uc003grr.2 + 10 1188 c.1107C>G c.(1105-1107)CTC>CTG p.L369L SLC34A2_uc003grs.2_Silent_p.L368L|SLC34A2_uc010iev.2_Silent_p.L368L NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 369 Helical; Name=M4; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) CCATCTTGCTCATACTCTCCC 0.527 NA 10 106 0 0 0.000673444 0 0 PCDH7 5099 broad.mit.edu 37 4 30726045 30726045 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr4:30726045C>T uc003gsk.1 + 1 4009 c.3001C>T c.(3001-3003)CCA>TCA p.P1001S PCDH7_uc011bxw.1_Missense_Mutation_p.P954S|PCDH7_uc011bxx.1_Missense_Mutation_p.P1001S NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 1001 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 ATCTAGTTCCCCATTGCCTAC 0.532 NA 9 43 0 0 0.000442599 0 0 KIAA1109 84162 broad.mit.edu 37 4 123269788 123269788 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr4:123269788C>T uc003ieh.2 + 75 13241 c.13196C>T c.(13195-13197)CCA>CTA p.P4399L KIAA1109_uc003iem.2_Missense_Mutation_p.P755L NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4399 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CAAGGGACCCCATGGGAAACA 0.328 NA 14 33 0 0 0.00185496 0 0 FAT1 2195 broad.mit.edu 37 4 187521447 187521447 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr4:187521447C>G uc003izf.2 - 22 11896 c.11708G>C c.(11707-11709)AGC>ACC p.S3903T NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3903 Extracellular (Potential).|Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GACCTGAATGCTCTGAACAGA 0.478 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 7 19 0 0 0.000157383 0 0 DNAH5 1767 broad.mit.edu 37 5 13700752 13700752 + Missense_Mutation SNP T T G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:13700752T>G uc003jfd.2 - 78 13762 c.13720A>C c.(13720-13722)AAT>CAT p.N4574H DNAH5_uc003jfc.2_Missense_Mutation_p.N742H NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4574 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AACTTACTATTGTTTTCTGCA 0.383 NA Kartagener_syndrome 30 104 0 0 0.001512 0 0 C7 730 broad.mit.edu 37 5 40958281 40958281 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:40958281G>T uc003jmh.2 + 11 1521 c.1407G>T c.(1405-1407)GAG>GAT p.E469D C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 469 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) CTACTGTTGAGGGGACCCATT 0.483 NA 36 67 1.36161e-19 9.00141e-19 0.000814825 1 0 C6 729 broad.mit.edu 37 5 41203279 41203279 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:41203279C>A uc003jmk.2 - 2 264 c.54G>T c.(52-54)AAG>AAT p.K18N C6_uc003jml.1_Missense_Mutation_p.K18N NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 18 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGGCTTGGCCCTTGTTGATCA 0.493 NA 60 161 5.82218e-30 3.92631e-29 0.000781405 1 0 MCTP1 79772 broad.mit.edu 37 5 94224613 94224613 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:94224613G>A uc003kkx.2 - 12 1904 c.1904C>T c.(1903-1905)GCG>GTG p.A635V MCTP1_uc003kkv.2_Missense_Mutation_p.A414V|MCTP1_uc003kkw.2_Missense_Mutation_p.A368V|MCTP1_uc003kkz.2_Missense_Mutation_p.A296V|MCTP1_uc003kku.2_Missense_Mutation_p.A151V NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 635 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TAACCCTTCCGCTCTGATGAC 0.443 NA 10 77 0 0 0.000308642 0 0 FER 2241 broad.mit.edu 37 5 108203572 108203572 + Nonsense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:108203572C>T uc003kop.1 + 6 970 c.586C>T c.(586-588)CAG>TAG p.Q196* FER_uc011cve.1_Nonsense_Mutation_p.Q136*|FER_uc011cvf.1_RNA|FER_uc011cvg.1_Nonsense_Mutation_p.Q21* NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 196 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ACAGCTCCATCAGAATCAGTA 0.388 Colon(146;1051 1799 9836 27344 47401) NA 8 25 0 0 0.000157383 0 0 MAN2A1 4124 broad.mit.edu 37 5 109124722 109124722 + Silent SNP T T G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:109124722T>G uc003kou.1 + 11 2811 c.1848T>G c.(1846-1848)TCT>TCG p.S616S NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 616 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) CATACGACTCTTACTCTCCTG 0.333 NA 6 69 0 0 0.000673444 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130797726 130797726 + Missense_Mutation SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:130797726G>C uc003kvn.1 - 19 2742 c.2536C>G c.(2536-2538)CAA>GAA p.Q846E RAPGEF6_uc003kvp.1_Missense_Mutation_p.Q896E|RAPGEF6_uc003kvo.1_Missense_Mutation_p.Q851E|RAPGEF6_uc010jdi.1_Missense_Mutation_p.Q846E|RAPGEF6_uc010jdj.1_Missense_Mutation_p.Q846E|RAPGEF6_uc003kvq.2_Missense_Mutation_p.Q563E|RAPGEF6_uc003kvr.2_Missense_Mutation_p.Q846E|RAPGEF6_uc011cxe.1_RNA NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 846 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ACTAGTTCTTGAGCATCTTCA 0.323 Melanoma(168;435 1955 13113 13877 23213) NA 5 35 0 0 0.000602214 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182124 140182124 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:140182124G>A uc003lhf.2 + 1 1342 c.1342G>A c.(1342-1344)GTG>ATG p.V448M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V448M NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 448 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCCGACGTGAACGACAA 0.662 NA 15 140 0 0 0.000308642 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230156 140230156 + Silent SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:140230156G>T uc003lhu.2 + 1 2800 c.2076G>T c.(2074-2076)ACG>ACT p.T692T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.T692T NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 692 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGAGGTGACGCTGGTGGATG 0.652 Melanoma(55;1800 1972 14909) NA 9 76 5.4927e-09 3.36585e-08 0.000274275 1 0 PCDHB16 57717 broad.mit.edu 37 5 140564076 140564076 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:140564076G>T uc003liv.2 + 1 3097 c.1942G>T c.(1942-1944)GGC>TGC p.G648C PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 648 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAGGACAATGGCGAGCCTCC 0.711 NA 17 50 6.33239e-15 4.08561e-14 0.00152264 1 0 ATP10B 23120 broad.mit.edu 37 5 159992643 159992643 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:159992643C>T uc003lym.1 - 26 5050 c.4203G>A c.(4201-4203)CAG>CAA p.Q1401Q ATP10B_uc010jit.1_Silent_p.Q651Q NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1401 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCCACATCTCTGTTCGTGGA 0.547 NA 14 106 0 0 0.000219431 0 0 F13A1 2162 broad.mit.edu 37 6 6267034 6267034 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:6267034G>T uc003mwv.2 - 4 451 c.328C>A c.(328-330)CCA>ACA p.P110T F13A1_uc011dib.1_Missense_Mutation_p.P47T NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 110 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTCTCCTGTGGGTAGCGACCT 0.453 NA 20 78 3.10358e-05 0.000172822 0.000295444 1 0 GCNT2 2651 broad.mit.edu 37 6 10529657 10529657 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:10529657G>A uc010joo.2 + 3 1064 c.513G>A c.(511-513)CTG>CTA p.L171L GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.L170L|GCNT2_uc010jon.2_Silent_p.L170L NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 171 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AGGCTGACCTGAACTGCCTGG 0.517 NA 10 47 0 0 0.000673444 0 0 KIF13A 63971 broad.mit.edu 37 6 17834252 17834252 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:17834252C>T uc003ncg.3 - 12 1311 c.1206G>A c.(1204-1206)CTG>CTA p.L402L KIF13A_uc003ncf.2_Silent_p.L402L|KIF13A_uc003nch.3_Silent_p.L402L|KIF13A_uc003nci.3_Silent_p.L402L|KIF13A_uc003ncj.2_Silent_p.L78L NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 402 Potential. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GTTCTTTTATCAGCTTTTCAG 0.378 NA 5 31 0 0 0.000602214 0 0 FAM65B 9750 broad.mit.edu 37 6 24843500 24843500 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:24843500C>T uc003neo.1 - 14 1686 c.1510G>A c.(1510-1512)GAC>AAC p.D504N FAM65B_uc011djs.1_Missense_Mutation_p.D483N|FAM65B_uc011dju.1_Missense_Mutation_p.D488N|FAM65B_uc003nep.2_Missense_Mutation_p.D454N|FAM65B_uc011djt.1_Missense_Mutation_p.D454N NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 504 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 TCCTCTGGGTCTTCCTCCTTC 0.582 NA 7 44 0 0 0.000274275 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444523 26444523 + Nonsense_Mutation SNP A A T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:26444523A>T uc003nhz.2 + 4 604 c.424A>T c.(424-426)AAG>TAG p.K142* BTN3A3_uc003nia.2_Nonsense_Mutation_p.K100*|BTN3A3_uc011dkn.1_Nonsense_Mutation_p.K100* NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 142 Extracellular (Potential). integral to membrane 0 GGTGGAGCTGAAGGTTGCAGG 0.488 NA 10 82 0 0 0.000978159 0 0 NKAPL 222698 broad.mit.edu 37 6 28227575 28227575 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:28227575G>T uc003nkt.2 + 1 478 c.426G>T c.(424-426)AAG>AAT p.K142N ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 142 upper_aerodigestive_tract(1)|ovary(1) 2 CGTCTCCAAAGTTCCCTCAGC 0.512 NA 20 172 4.30721e-22 2.86152e-21 0.00152264 1 0 BAT3 7917 broad.mit.edu 37 6 31608189 31608189 + Silent SNP T T C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:31608189T>C uc003nvg.3 - 22 3335 c.3021A>G c.(3019-3021)ACA>ACG p.T1007T BAT3_uc003nvf.3_Silent_p.T1001T|BAT3_uc003nvh.3_Silent_p.T1001T|BAT3_uc003nvi.3_Silent_p.T1001T|BAT3_uc011dnw.1_Silent_p.T1001T|BAT3_uc011dnx.1_Intron NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 1007 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 CCCAAGGTTCTGTCTCAGCTG 0.557 NA 30 124 0 0 0.001512 0 0 SRF 6722 broad.mit.edu 37 6 43146097 43146097 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:43146097C>T uc003oui.2 + 5 1703 c.1228C>T c.(1228-1230)CCT>TCT p.P410S SRF_uc011dvf.1_Missense_Mutation_p.P206S NM_003131 NP_003122 P11831 SRF_HUMAN serum response factor (c-fos serum response 410 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CATGATGTACCCTAGCCCGCA 0.617 NA 6 52 0 0 0.000274275 0 0 MRPS18A 55168 broad.mit.edu 37 6 43648835 43648835 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:43648835C>T uc003ovy.1 - 2 147 c.135G>A c.(133-135)AAG>AAA p.K45K MRPS18A_uc003ovz.1_Silent_p.K45K|MRPS18A_uc003owa.1_Silent_p.K45K|MRPS18A_uc010jyw.2_Silent_p.K45K NM_018135 NP_060605 Q9NVS2 RT18A_HUMAN mitochondrial ribosomal protein S18A precursor 45 translation mitochondrial small ribosomal subunit structural constituent of ribosome 0 all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137) CTATAGTTGTCTTCCCTTCTT 0.473 NA 4 29 0 0 0.00116845 0 0 EYS 346007 broad.mit.edu 37 6 66205196 66205196 + Silent SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:66205196G>T uc011dxu.1 - 4 646 c.108C>A c.(106-108)CCC>CCA p.P36P EYS_uc003peq.2_Silent_p.P36P|EYS_uc003per.1_Silent_p.P36P|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 36 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CATATGATGAGGGTTGTGGAT 0.388 NA 25 86 7.92952e-12 5.04333e-11 0.000586117 1 0 BAI3 577 broad.mit.edu 37 6 69703681 69703681 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:69703681G>T uc003pev.3 + 11 2204 c.1756G>T c.(1756-1758)GGG>TGG p.G586W BAI3_uc010kak.2_Missense_Mutation_p.G586W NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 586 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G586R(1) lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CCTTGCTAAGGGGCAGCGAAT 0.403 NA 70 186 4.75426e-39 3.22233e-38 0.000781405 1 0 BAI3 577 broad.mit.edu 37 6 70071370 70071370 + Missense_Mutation SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:70071370A>G uc003pev.3 + 29 4653 c.4205A>G c.(4204-4206)GAA>GGA p.E1402G BAI3_uc010kak.2_Missense_Mutation_p.E1402G|BAI3_uc011dxx.1_Missense_Mutation_p.E608G NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1402 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TCAAGAAGTGAAACTGGATCA 0.373 NA 12 46 0 0 0.000219431 0 0 MCHR2 84539 broad.mit.edu 37 6 100403872 100403872 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:100403872C>A uc003pqh.1 - 2 467 c.152G>T c.(151-153)GGC>GTC p.G51V MCHR2_uc003pqi.1_Missense_Mutation_p.G51V NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 51 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GAGGATGTTGCCAACCAGCCC 0.383 NA 10 41 1.76689e-08 1.05385e-07 0.000442599 1 0 SAMD3 154075 broad.mit.edu 37 6 130530743 130530743 + Missense_Mutation SNP C C T rs17852709 TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:130530743C>T uc003qbv.2 - 6 606 c.280G>A c.(280-282)GAA>AAA p.E94K SAMD3_uc003qbx.2_Missense_Mutation_p.E94K|SAMD3_uc003qbw.2_Missense_Mutation_p.E94K|SAMD3_uc010kfg.1_Missense_Mutation_p.E94K|SAMD3_uc003qby.2_Missense_Mutation_p.E94K|SAMD3_uc003qbz.1_Missense_Mutation_p.E53K NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 94 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GAGGACTCTTCATCCCTGTAA 0.468 NA 6 39 0 0 0.00116845 0 0 AHI1 54806 broad.mit.edu 37 6 135784321 135784321 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:135784321G>A uc003qgi.2 - 8 1257 c.873C>T c.(871-873)GAC>GAT p.D291D AHI1_uc003qgh.2_Silent_p.D291D|AHI1_uc003qgj.2_Silent_p.D291D|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Silent_p.D291D NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 291 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTTGCATGCTGTCTTCTGTGC 0.323 NA 7 73 0 0 8.12818e-05 0 0 RBM16 22828 broad.mit.edu 37 6 155095170 155095170 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:155095170G>A uc003qqa.2 + 3 310 c.78G>A c.(76-78)ATG>ATA p.M26I RBM16_uc011efj.1_Missense_Mutation_p.M92I|RBM16_uc011efk.1_Missense_Mutation_p.M71I|RBM16_uc003qpz.2_Missense_Mutation_p.M26I|RBM16_uc010kji.2_Missense_Mutation_p.M47I NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 26 CID. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) AAGCGAAAATGACCCAAATTA 0.318 NA 30 74 0 0 0.000692331 0 0 EZR 7430 broad.mit.edu 37 6 159206352 159206352 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr6:159206352C>T uc003qrt.3 - 4 671 c.456G>A c.(454-456)CTG>CTA p.L152L EZR_uc011efs.1_Silent_p.L120L|EZR_uc003qru.3_Silent_p.L152L NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 152 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TTTGAGGGATCAGCCGCTCAG 0.562 NA 10 50 0 0 0.000978159 0 0 RNF216 54476 broad.mit.edu 37 7 5760666 5760666 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:5760666C>T uc003soy.1 - 9 1661 c.1471G>A c.(1471-1473)GAG>AAG p.E491K RNF216_uc010ksz.1_Missense_Mutation_p.E113K|RNF216_uc010kta.1_Missense_Mutation_p.E113K|RNF216_uc011jwj.1_Missense_Mutation_p.E113K|RNF216_uc003sox.1_Missense_Mutation_p.E548K NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 491 Potential. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CTTCCTACCTCTGCCATCTCT 0.443 NA 10 163 0 0 0.000673444 0 0 COL28A1 340267 broad.mit.edu 37 7 7472294 7472294 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:7472294C>A uc003src.1 - 24 2015 c.1898G>T c.(1897-1899)GGA>GTA p.G633V COL28A1_uc011jxe.1_Missense_Mutation_p.G316V|COL28A1_uc003srd.2_Missense_Mutation_p.G188V|COL28A1_uc003sre.1_Missense_Mutation_p.G54V NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 633 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) ACCTTTGAGTCCTGGAGCACC 0.488 NA 61 89 1.3268e-25 8.90285e-25 0.000781405 1 0 HDAC9 9734 broad.mit.edu 37 7 18688173 18688173 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:18688173G>A uc003suh.2 + 10 1366 c.1325G>A c.(1324-1326)CGT>CAT p.R442H HDAC9_uc003sue.2_Missense_Mutation_p.R442H|HDAC9_uc011jyd.1_Missense_Mutation_p.R442H|HDAC9_uc003sui.2_Missense_Mutation_p.R445H|HDAC9_uc003suj.2_Missense_Mutation_p.R401H|HDAC9_uc011jya.1_Missense_Mutation_p.R439H|HDAC9_uc003sua.1_Missense_Mutation_p.R420H|HDAC9_uc011jyb.1_Missense_Mutation_p.R398H|HDAC9_uc003sud.1_Missense_Mutation_p.R442H|HDAC9_uc011jyc.1_Missense_Mutation_p.R401H|HDAC9_uc003suf.1_Missense_Mutation_p.R473H|HDAC9_uc010kud.1_Missense_Mutation_p.R445H|HDAC9_uc011jye.1_Missense_Mutation_p.R414H|HDAC9_uc011jyf.1_Missense_Mutation_p.R365H|HDAC9_uc010kue.1_Missense_Mutation_p.R185H NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 442 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) AAATTGCCCCGTCACAGACCC 0.493 NA 7 100 0 0 0.000157383 0 0 DFNA5 1687 broad.mit.edu 37 7 24749972 24749972 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:24749972C>T uc010kus.1 - 6 821 c.733G>A c.(733-735)GAG>AAG p.E245K DFNA5_uc003swz.2_Missense_Mutation_p.E81K|DFNA5_uc003sxa.1_Missense_Mutation_p.E245K|DFNA5_uc010kut.1_Missense_Mutation_p.E81K NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 245 sensory perception of sound ovary(1) 1 TTCTTGTTCTCGAAGCCACCT 0.488 GBM(78;184 1250 20134 20900 23600) NA 13 117 0 0 0.000219431 0 0 CCT6A 908 broad.mit.edu 37 7 56122154 56122154 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:56122154C>G uc003trl.1 + 3 458 c.294C>G c.(292-294)ATC>ATG p.I98M PSPH_uc003trh.2_5'Flank|PSPH_uc003tri.2_5'Flank|PSPH_uc003trj.2_Intron|PSPH_uc003trk.1_5'Flank|CCT6A_uc003trm.1_Intron|CCT6A_uc011kcu.1_Missense_Mutation_p.I67M NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 98 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATGTCCTAATCATTGGAGAGC 0.383 NA 16 183 0 0 0.00074312 0 0 PCLO 27445 broad.mit.edu 37 7 82785429 82785429 + Silent SNP A A G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:82785429A>G uc003uhx.2 - 2 817 c.528T>C c.(526-528)TTT>TTC p.F176F PCLO_uc003uhv.2_Silent_p.F176F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 176 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATATCAAATCAAAAGGGTTGA 0.403 NA 7 53 0 0 0.000157383 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628881 84628881 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:84628881T>A uc003uic.2 - 17 2249 c.2209A>T c.(2209-2211)AGG>TGG p.R737W SEMA3D_uc010led.2_Missense_Mutation_p.R737W|SEMA3D_uc003uib.2_Missense_Mutation_p.R376W NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 737 cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 CGCTTCTCCCTGTGCCACATC 0.493 Ovarian(63;442 1191 17318 29975 31528) NA 5 65 0 0 0.00116845 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761372 92761372 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:92761372C>T uc003umh.1 - 5 5129 c.3913G>A c.(3913-3915)GAA>AAA p.E1305K SAMD9L_uc003umj.1_Missense_Mutation_p.E1305K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1305K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1305K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1305K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1305K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1305K|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1305 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CAGAAAAGTTCTGTGTATTTC 0.358 NA 9 73 0 0 0.000274275 0 0 COL1A2 1278 broad.mit.edu 37 7 94053707 94053707 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:94053707C>T uc003ung.1 + 41 3096 c.2625C>T c.(2623-2625)CTC>CTT p.L875L COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 875 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTCTGGGTCTCCCTGGCTCGA 0.468 NA HNSCC(75;0.22) 12 82 0 0 0.00185496 0 0 CPSF4 10898 broad.mit.edu 37 7 99051673 99051674 + Missense_Mutation DNP CC CC AA TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:99051673_99051674CC>AA uc003uqj.2 + 7 798_799 c.655_656CC>AA c.(655-657)CCG>AAG p.P219K PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.P194K|CPSF4_uc003uqk.2_Missense_Mutation_p.P193K|CPSF4_uc011kix.1_Missense_Mutation_p.P141K NM_006693 NP_006684 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 219 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCAGAGAACCCCGCAGGTCATC 0.554 NA 9 291 0 0 6.4e-05 0 0 DOCK4 9732 broad.mit.edu 37 7 111368635 111368635 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:111368635C>T uc003vfx.2 - 52 5865 c.5596G>A c.(5596-5598)GAA>AAA p.E1866K DOCK4_uc011kml.1_Missense_Mutation_p.E747K|DOCK4_uc011kmm.1_Missense_Mutation_p.E735K|DOCK4_uc003vfw.2_Missense_Mutation_p.E1278K|DOCK4_uc003vfy.2_Missense_Mutation_p.E1911K|DOCK4_uc003vfv.2_Missense_Mutation_p.E179K NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1866 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ACCTGATTTTCAAAGCCTGAG 0.622 NA 10 61 0 0 0.00136819 0 0 MET 4233 broad.mit.edu 37 7 116371843 116371843 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:116371843C>G uc003vij.2 + 3 1509 c.1322C>G c.(1321-1323)TCT>TGT p.S441C MET_uc010lkh.2_Missense_Mutation_p.S441C|MET_uc011knc.1_Missense_Mutation_p.S441C|MET_uc011knd.1_Missense_Mutation_p.S441C|MET_uc011kne.1_Missense_Mutation_p.S441C|MET_uc011knf.1_Missense_Mutation_p.S441C|MET_uc011kng.1_Missense_Mutation_p.S441C|MET_uc011knh.1_Missense_Mutation_p.S441C|MET_uc011kni.1_Missense_Mutation_p.S441C|MET_uc011knj.1_Missense_Mutation_p.S11C|MET_uc010lkg.2_Missense_Mutation_p.S441C|MET_uc011kna.1_Missense_Mutation_p.S441C|MET_uc011knb.1_Missense_Mutation_p.S441C NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 441 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTCTTAACATCTATATCCACC 0.473 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 6 49 0 0 0.000157383 0 0 CHRM2 1129 broad.mit.edu 37 7 136700368 136700368 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:136700368C>G uc003vtf.1 + 4 1379 c.756C>G c.(754-756)GAC>GAG p.D252E CHRM2_uc003vtg.1_Missense_Mutation_p.D252E|CHRM2_uc003vtj.1_Missense_Mutation_p.D252E|CHRM2_uc003vtk.1_Missense_Mutation_p.D252E|CHRM2_uc003vtl.1_Missense_Mutation_p.D252E|CHRM2_uc003vtm.1_Missense_Mutation_p.D252E|CHRM2_uc003vti.1_Missense_Mutation_p.D252E|CHRM2_uc003vto.1_Missense_Mutation_p.D252E|CHRM2_uc003vtn.1_Missense_Mutation_p.D252E|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 252 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCAGCAGTGACGATGGCCTGG 0.507 NA 3 30 0 0 6.4e-05 0 0 NOBOX 135935 broad.mit.edu 37 7 144098962 144098962 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:144098962C>G uc011kue.1 - 3 292 c.292G>C c.(292-294)GGC>CGC p.G98R NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 98 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GGGTACTCACCCCTTGTGAGT 0.443 NA 5 15 0 0 0.00116845 0 0 CSMD1 64478 broad.mit.edu 37 8 4851884 4851884 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:4851884G>T uc011kwk.1 - 1 445 c.55C>A c.(55-57)CTG>ATG p.L19M NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 19 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCGCGCACAGCACCAGCAGC 0.657 NA 4 30 1.024e-07 6.02723e-07 0.000602214 1 0 RP1L1 94137 broad.mit.edu 37 8 10469299 10469299 + Missense_Mutation SNP G G T rs151054713 by1000genomes TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:10469299G>T uc003wtc.2 - 4 2538 c.2309C>A c.(2308-2310)ACA>AAA p.T770K NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 770 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CGGCGAGCATGTCCTGGACCC 0.662 NA 9 42 2.17888e-05 0.000121836 0.000442599 1 0 PTK2B 2185 broad.mit.edu 37 8 27277480 27277480 + Silent SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:27277480G>T uc003xfn.1 + 8 1081 c.273G>T c.(271-273)GGG>GGT p.G91G PTK2B_uc003xfo.1_Silent_p.G91G|PTK2B_uc003xfp.1_Silent_p.G91G|PTK2B_uc003xfq.1_Silent_p.G91G NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 91 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AGTGCTATGGGCTGAGGCTGA 0.582 NA 11 31 1.67772e-17 1.09296e-16 0.000978159 1 0 SOX17 64321 broad.mit.edu 37 8 55371727 55371727 + Silent SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:55371727G>C uc003xsb.3 + 2 621 c.417G>C c.(415-417)CCG>CCC p.P139P NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 139 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) AGTACCGGCCGCGGCGGCGCA 0.736 NA 3 38 0 0 0.000602214 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764192 77764192 + Missense_Mutation SNP A A T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:77764192A>T uc003yav.2 + 10 5287 c.4900A>T c.(4900-4902)ATC>TTC p.I1634F ZFHX4_uc003yau.1_Missense_Mutation_p.I1679F|ZFHX4_uc003yaw.1_Missense_Mutation_p.I1634F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1634 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) TCCTGATTTAATCTCTGCTCA 0.428 NA HNSCC(33;0.089) 5 106 0 0 0.000602214 0 0 ANGPT1 284 broad.mit.edu 37 8 108348418 108348418 + Nonsense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:108348418G>A uc003ymn.2 - 3 1003 c.535C>T c.(535-537)CAA>TAA p.Q179* ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Nonsense_Mutation_p.Q179* NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 179 Potential. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TTTGTCTGTTGAAGAAGTTGC 0.343 NA 14 38 0 0 0.000308642 0 0 CSMD3 114788 broad.mit.edu 37 8 113504872 113504872 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:113504872C>A uc003ynu.2 - 31 5283 c.5124G>T c.(5122-5124)ATG>ATT p.M1708I CSMD3_uc003yns.2_Missense_Mutation_p.M980I|CSMD3_uc003ynt.2_Missense_Mutation_p.M1668I|CSMD3_uc011lhx.1_Missense_Mutation_p.M1604I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1708 Extracellular (Potential).|Sushi 9. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGGTGCCATTCATTATATTGC 0.328 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 69 1.30998e-17 8.5756e-17 0.00111076 1 0 ENPP2 5168 broad.mit.edu 37 8 120569904 120569904 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:120569904C>T uc003yot.1 - 25 2535 c.2449G>A c.(2449-2451)GAA>AAA p.E817K ENPP2_uc011lic.1_Missense_Mutation_p.E355K|ENPP2_uc003yor.1_Missense_Mutation_p.E452K|ENPP2_uc003yos.1_Missense_Mutation_p.E869K|ENPP2_uc010mdd.1_Missense_Mutation_p.E842K NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 817 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATGAGTTCTTCTACCCATTTT 0.458 Melanoma(20;305 879 2501 4818 31020) NA 9 176 0 0 0.000673444 0 0 FAM135B 51059 broad.mit.edu 37 8 139323096 139323096 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:139323096C>G uc003yuy.2 - 3 316 c.145G>C c.(145-147)GCT>CCT p.A49P FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 49 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) GTCTGCCCAGCGATGGAGGCA 0.557 NA HNSCC(54;0.14) 3 79 0 0 0.00024832 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996466 143996466 + Missense_Mutation SNP T T C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:143996466T>C uc003yxk.1 - 3 594 c.591A>G c.(589-591)ATA>ATG p.I197M NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 197 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CCACACCTTCTATGGTGTAGT 0.647 NA Familial_Hyperaldosteronism_type_I 10 21 0 0 0.000442599 0 0 EPPK1 83481 broad.mit.edu 37 8 144941387 144941387 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr8:144941387G>A uc003zaa.1 - 1 6048 c.6035C>T c.(6034-6036)GCC>GTC p.A2012V NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2012 Plectin 34. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCCCCCGTGGCCACCTGCAC 0.627 NA 19 33 0 0 0.00074312 0 0 FOXD4 2298 broad.mit.edu 37 9 118076 118076 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr9:118076C>T uc003zfz.2 - 1 342 c.44G>A c.(43-45)CGC>CAC p.R15H NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 15 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CCGGAGGCTGCGCTGCGGTGT 0.642 NA 16 189 0 0 0.00074312 0 0 CER1 9350 broad.mit.edu 37 9 14720260 14720260 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr9:14720260G>A uc003zlj.2 - 2 677 c.632C>T c.(631-633)CCT>CTT p.P211L NM_005454 NP_005445 O95813 CER1_HUMAN cerberus 1 precursor 211 CTCK. BMP signaling pathway extracellular space cytokine activity 0 GBM - Glioblastoma multiforme(50;3.16e-06) GAACTTGGCAGGCAAACAGTG 0.522 NA 19 57 0 0 0.000958276 0 0 ELAVL2 1993 broad.mit.edu 37 9 23693456 23693456 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr9:23693456C>T uc003zpu.2 - 6 1017 c.742G>A c.(742-744)GGA>AGA p.G248R ELAVL2_uc003zps.2_Intron|ELAVL2_uc003zpt.2_Intron|ELAVL2_uc003zpv.2_Missense_Mutation_p.G248R|ELAVL2_uc003zpw.2_Intron NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 248 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CTCTTTACTCCATAAGCCATA 0.378 NA 12 83 0 0 0.00185496 0 0 PCSK5 5125 broad.mit.edu 37 9 78722189 78722189 + Missense_Mutation SNP G G T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr9:78722189G>T uc004ajz.2 + 9 1668 c.1130G>T c.(1129-1131)CGT>CTT p.R377L PCSK5_uc004ajy.2_Missense_Mutation_p.R377L|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 377 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 CTGAGGCAGCGTTGCACGGAC 0.478 NA 11 43 4.68919e-08 2.7722e-07 0.000673444 1 0 COL15A1 1306 broad.mit.edu 37 9 101812151 101812151 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr9:101812151C>A uc004azb.1 + 30 3084 c.2878C>A c.(2878-2880)CCC>ACC p.P960T NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 960 Nonhelical region 6 (NC6). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TTTCCCAATACCCGTCCGACC 0.493 NA 11 97 0.00136819 0.00734447 0.00136819 1 0 PPP3R2 5535 broad.mit.edu 37 9 104356919 104356919 + Silent SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr9:104356919C>T uc004bbr.2 - 1 365 c.294G>A c.(292-294)GCG>GCA p.A98A GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 95 EF-hand 3. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) AAATGCTGAACGCAAACCTCA 0.537 NA 16 88 0 0 0.000422831 0 0 TBL1X 6907 broad.mit.edu 37 X 9660219 9660219 + Silent SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:9660219C>A uc010ndq.2 + 9 1184 c.816C>A c.(814-816)CTC>CTA p.L272L TBL1X_uc004csq.3_Silent_p.L221L|TBL1X_uc010ndr.2_Silent_p.L221L|TBL1X_uc004csr.2_Silent_p.L272L|TBL1X_uc004css.2_Silent_p.L223L NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 272 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) CCACCCAGCTCGTGTTGAGGC 0.522 NA 18 97 3.32936e-07 1.92586e-06 0.00074312 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29414549 29414549 + Silent SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:29414549C>A uc004dby.2 + 4 1045 c.537C>A c.(535-537)ATC>ATA p.I179I NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 179 Ig-like C2-type 2.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 AACCTGAAATCCTTTGGTACA 0.378 NA 13 64 3.27435e-08 1.94433e-07 0.000219431 1 0 MAGEB16 139604 broad.mit.edu 37 X 35820400 35820400 + Silent SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:35820400G>A uc010ngt.1 + 2 366 c.87G>A c.(85-87)CAG>CAA p.Q29Q NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 29 lung(3)|ovary(2)|breast(1)|skin(1) 7 AGGTTGCACAGGTCTCCAAGG 0.557 NA 7 27 0 0 8.12818e-05 0 0 DGKK 139189 broad.mit.edu 37 X 50133388 50133388 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:50133388C>T uc010njr.1 - 12 1924 c.1864G>A c.(1864-1866)GAG>AAG p.E622K NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 622 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) CTGGGAGTCTCACGAATCATC 0.398 NA 23 119 0 0 0.00047179 0 0 BRWD3 254065 broad.mit.edu 37 X 79932261 79932261 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:79932261T>A uc004edt.2 - 41 5519 c.5256A>T c.(5254-5256)CAA>CAT p.Q1752H BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edp.2_Missense_Mutation_p.Q1581H|BRWD3_uc004edq.2_Missense_Mutation_p.Q1348H|BRWD3_uc010nmj.1_Missense_Mutation_p.Q1348H|BRWD3_uc004edr.2_Missense_Mutation_p.Q1422H|BRWD3_uc004eds.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edu.2_Missense_Mutation_p.Q1422H|BRWD3_uc004edv.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edw.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edx.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edy.2_Missense_Mutation_p.Q1348H|BRWD3_uc004edz.2_Missense_Mutation_p.Q1422H|BRWD3_uc004eea.2_Missense_Mutation_p.Q1422H|BRWD3_uc004eeb.2_Missense_Mutation_p.Q1348H|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1752 ovary(4) 4 TCCTCCTGCCTTGGTTTCTTG 0.418 NA 12 59 0 0 0.00136819 0 0 DCX 1641 broad.mit.edu 37 X 110654193 110654193 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:110654193G>A uc004epd.2 - 1 182 c.10C>T c.(10-12)CTC>TTC p.L4F DCX_uc011msv.1_Missense_Mutation_p.L4F|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 4 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 TGAAGGGGGAGTGTTTTCATT 0.453 NA 12 84 0 0 0.00136819 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298801 125298801 + Missense_Mutation SNP A A T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:125298801A>T uc004euk.1 - 1 1134 c.1107T>A c.(1105-1107)CAT>CAA p.H369Q NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 369 WD 4. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCAGGGAACCATGGCCGGTGC 0.642 NA 13 80 0 0 0.000308642 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795254 142795254 + Missense_Mutation SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:142795254C>A uc004fbz.2 - 2 1178 c.424G>T c.(424-426)GAC>TAC p.D142Y NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 142 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TCAGATGAGTCCAGGTCTTCG 0.512 NA 88 306 1.67448e-56 1.14068e-55 0.000781405 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905488 144905488 + Silent SNP G G C TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:144905488G>C uc004fcd.2 + 5 2535 c.1545G>C c.(1543-1545)CTG>CTC p.L515L SLITRK2_uc010nsp.2_Silent_p.L515L|SLITRK2_uc010nso.2_Silent_p.L515L|SLITRK2_uc011mwq.1_Silent_p.L515L|SLITRK2_uc011mwr.1_Silent_p.L515L|SLITRK2_uc011mws.1_Silent_p.L515L|SLITRK2_uc004fcg.2_Silent_p.L515L|SLITRK2_uc011mwt.1_Silent_p.L515L NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 515 Extracellular (Potential).|LRR 12. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AAGGGGTTCTGGATCAGCTCC 0.502 NA 13 104 0 0 0.00185496 0 0 CNGA2 1260 broad.mit.edu 37 X 150912290 150912290 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chrX:150912290G>A uc004fey.1 + 7 1539 c.1315G>A c.(1315-1317)GAG>AAG p.E439K NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 439 Extracellular (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GCTCAGGGCTGAGATAGCCAT 0.498 NA 12 81 0 0 0.00136819 0 0 TRPC6 7225 broad.mit.edu 37 11 101323821 101323821 + Frame_Shift_Del DEL A A - TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr11:101323821delA uc001pgk.3 - 13 3086 c.2661delT c.(2659-2661)ATTfs p.I887fs TRPC6_uc009ywy.2_Frame_Shift_Del_p.I771fs NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 887 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TGTCCTGCTTAATTTCCTTCA 0.393 Colon(166;1315 1927 11094 12848 34731) NA 12 68 --- --- --- --- NA NA NA NA NA TIFA 92610 broad.mit.edu 37 4 113199144 113199145 + Frame_Shift_Ins INS - - A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr4:113199144_113199145insA uc003ial.2 - 2 710_711 c.428_429insT c.(427-429)TTAfs p.L143fs NM_052864 NP_443096 Q96CG3 TIFA_HUMAN TRAF-interacting protein with a 143 protein binding breast(1) 1 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00172) ATCTTGGAGATAAAATAAATTG 0.465 NA 7 39 --- --- --- --- NA NA NA NA NA APC 324 broad.mit.edu 37 5 112177967 112177968 + Frame_Shift_Del DEL CG CG - TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr5:112177967_112177968delCG uc010jby.2 + 16 7056_7057 c.6676_6677delCG c.(6676-6678)CGAfs p.R2226fs APC_uc011cvt.1_Frame_Shift_Del_p.R2208fs|APC_uc003kpz.3_Frame_Shift_Del_p.R2226fs|APC_uc003kpy.3_Frame_Shift_Del_p.R2226fs|APC_uc010jbz.2_Frame_Shift_Del_p.R1943fs|APC_uc010jca.2_Frame_Shift_Del_p.R1526fs NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2226 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTCAATCTCTCGAGGCAGGACA 0.401 NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 19 125 --- --- --- --- NA NA NA NA NA DDX56 54606 broad.mit.edu 37 7 44610424 44610424 + Frame_Shift_Del DEL T T - TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5721b714-3c3e-49e8-b301-25727fd130cd 24721de3-4572-4864-9ba5-1f54a9023005 g.chr7:44610424delT uc003tlg.2 - 7 1586 c.943delA c.(943-945)ACTfs p.T315fs DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Frame_Shift_Del_p.T251fs|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Intron|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 315 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 TCAGCATCAGTTGCTATGACA 0.572 NA 100 113 --- --- --- --- NA NA NA NA NA