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 MTOR 2475 broad.mit.edu 37 1 11273609 11273609 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:11273609C>T uc001asd.2 - 21 3253 c.3132G>A c.(3130-3132)ATG>ATA p.M1044I NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1044 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TTGAGGTGTTCATGACCCAGA 0.448 NA 23 99 0 0 0.005443 0 0 UBR4 23352 broad.mit.edu 37 1 19423145 19423145 + Splice_Site SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:19423145C>G uc001bbi.2 - 92 13395 c.13391_splice c.e92-1 p.D4464_splice UBR4_uc010ocv.1_Splice_Site_p.D27_splice|UBR4_uc009vph.2_Splice_Site_p.D98_splice|UBR4_uc010ocw.1_Splice_Site_p.D128_splice|UBR4_uc001bbg.2_Splice_Site_p.D175_splice|UBR4_uc001bbh.2_Splice_Site_p.D173_splice NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) tcttcttcatctAGGGGAGAA 0.448 NA 26 121 0 0 0.003954 0 0 STMN1 3925 broad.mit.edu 37 1 26228095 26228095 + Nonsense_Mutation SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:26228095C>A uc001bkz.2 - 4 629 c.265G>T c.(265-267)GAG>TAG p.E89* STMN1_uc010oev.1_Nonsense_Mutation_p.E89*|STMN1_uc001bla.2_Nonsense_Mutation_p.E89*|STMN1_uc001blb.2_Nonsense_Mutation_p.E82*|STMN1_uc001blc.2_Nonsense_Mutation_p.E89* NM_203401 NP_981946 P16949 STMN1_HUMAN stathmin 1 isoform a 89 Potential. cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus cytoplasm|microtubule signal transducer activity|tubulin binding 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649) TTGTTGTTCTCTTCTATTGCC 0.438 NA 25 57 3.7963e-18 8.44892e-18 0.00333 1 0 LCK 3932 broad.mit.edu 37 1 32751144 32751144 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:32751144C>G uc001bux.2 + 13 1495 c.1357C>G c.(1357-1359)CTG>GTG p.L453V LCK_uc001buy.2_Missense_Mutation_p.L453V|LCK_uc001buz.2_Missense_Mutation_p.L483V|LCK_uc001bva.2_Missense_Mutation_p.L460V NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 453 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GATTCAGAACCTGGAGCGAGG 0.552 NA T TRB@ T-ALL 27 38 0 0 0.007291 0 0 GJA9 81025 broad.mit.edu 37 1 39340775 39340775 + Missense_Mutation SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:39340775C>A uc001cct.1 - 2 1277 c.996G>T c.(994-996)GAG>GAT p.E332D RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 332 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) GTGTGGAAATCTCATTAGAAA 0.318 NA 13 35 4.3838e-07 9.07416e-07 0.001855 1 0 PABPC4 8761 broad.mit.edu 37 1 40038208 40038208 + Missense_Mutation SNP T T C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:40038208T>C uc010oiv.1 - 2 1142 c.244A>G c.(244-246)ATC>GTC p.I82V PABPC4_uc001cdl.2_Missense_Mutation_p.I82V|PABPC4_uc001cdm.2_Missense_Mutation_p.I82V NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 82 RRM 1. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ATGATGCGGATTGGCTTTCCC 0.448 NA 17 46 0 0 0.007413 0 0 SLC5A9 200010 broad.mit.edu 37 1 48703369 48703369 + Silent SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:48703369G>T uc001cro.2 + 11 1363 c.1311G>T c.(1309-1311)CTG>CTT p.L437L SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.L462L|SLC5A9_uc010omt.1_Silent_p.L451L|SLC5A9_uc001crp.2_Silent_p.L104L|SLC5A9_uc010omu.1_Silent_p.L104L|SLC5A9_uc009vyt.1_5'Flank NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 437 Helical; (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 TGGTGTTCCTGGTTGTCATCA 0.577 NA 11 41 4.68919e-08 9.98561e-08 0.000673 1 0 C1orf175 374977 broad.mit.edu 37 1 55138776 55138776 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:55138776C>G uc010ooe.1 + 8 1936 c.1612C>G c.(1612-1614)CAG>GAG p.Q538E C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.Q106E|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.Q56E|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.Q538E|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 538 integral to membrane binding 0 TCTTTACCATCAGACCCTGGA 0.552 NA 8 24 0 0 0.004482 0 0 SGIP1 84251 broad.mit.edu 37 1 67147963 67147963 + Missense_Mutation SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:67147963C>A uc001dcr.2 + 15 1443 c.1226C>A c.(1225-1227)GCA>GAA p.A409E SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.A176E NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 409 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 GGACAAAGAGCAACTCCACCT 0.512 NA 50 73 2.29192e-23 5.17868e-23 0.00361 1 0 VCAM1 7412 broad.mit.edu 37 1 101190420 101190420 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:101190420G>C uc001dti.2 + 4 1022 c.902G>C c.(901-903)AGA>ACA p.R301T VCAM1_uc001dtj.2_Missense_Mutation_p.R301T|VCAM1_uc010ouj.1_Missense_Mutation_p.R239T NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 301 Ig-like C2-type 3.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GGGAAAAACAGAAAAGAGGTG 0.378 NA 3 24 0 0 0.000248 0 0 VCAM1 7412 broad.mit.edu 37 1 101194797 101194797 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:101194797C>G uc001dti.2 + 5 1183 c.1063C>G c.(1063-1065)CTG>GTG p.L355V VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.L293V NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 355 Ig-like C2-type 4.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGACAGCCCTCTGAGCGGGAA 0.527 NA 18 73 0 0 0.006122 0 0 ADORA3 140 broad.mit.edu 37 1 112042915 112042915 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:112042915C>T uc001ebh.3 - 2 1381 c.614G>A c.(613-615)CGG>CAG p.R205Q ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Intron NM_000677 NP_000668 P33765 AA3R_HUMAN adenosine A3 receptor isoform 2 205 Cytoplasmic (By similarity). activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GAGTTTGTTCCGAATGATGTA 0.428 NA 10 33 0 0 0.006214 0 0 FAM20B 9917 broad.mit.edu 37 1 179013004 179013004 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:179013004G>T uc001gmc.2 + 2 315 c.22G>T c.(22-24)GTG>TTG p.V8L NM_014864 NP_055679 O75063 XYLK_HUMAN hypothetical protein LOC9917 precursor 8 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(3) 3 GCAGCGAGTCGTGCTGTTAGC 0.468 NA 7 30 5.18039e-06 1.04313e-05 0.00308 1 0 KIF14 9928 broad.mit.edu 37 1 200539118 200539118 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:200539118C>T uc010ppk.1 - 23 4021 c.3582G>A c.(3580-3582)ATG>ATA p.M1194I KIF14_uc010ppj.1_Missense_Mutation_p.M703I NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1194 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TTCTGTTCTTCATCAAACTCC 0.289 NA 18 46 0 0 0.007413 0 0 USH2A 7399 broad.mit.edu 37 1 216172259 216172259 + Silent SNP T T C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:216172259T>C uc001hku.1 - 34 7014 c.6627A>G c.(6625-6627)TTA>TTG p.L2209L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2209 Extracellular (Potential).|Fibronectin type-III 8. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATTACCAGGTAAAACGTATT 0.373 NA HNSCC(13;0.011) 9 23 0 0 0.006214 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285607 248285607 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:248285607C>T uc001idy.1 + 1 170 c.170C>T c.(169-171)GCC>GTC p.A57V NR_002141 RecName: Full=Olfactory receptor 2M5; 0 TGCTACATTGCCATTTGCCAC 0.433 NA 28 139 0 0 0.00632 0 0 RET 5979 broad.mit.edu 37 10 43596058 43596058 + Silent SNP G G A rs151267865 byFrequency TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr10:43596058G>A uc001jal.2 + 2 415 c.225G>A c.(223-225)ACG>ACA p.T75T RET_uc001jak.1_Silent_p.T75T NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 75 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) TCTACGGCACGTACCGCACAC 0.647 Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 7 26 0 0 0.001984 0 0 SLC25A16 8034 broad.mit.edu 37 10 70248311 70248311 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr10:70248311G>A uc001joi.2 - 7 1138 c.686C>T c.(685-687)TCA>TTA p.S229L SLC25A16_uc010qix.1_Missense_Mutation_p.S95L|SLC25A16_uc010qiy.1_Missense_Mutation_p.S131L|SLC25A16_uc001joj.2_Missense_Mutation_p.S131L NM_152707 NP_689920 P16260 GDC_HUMAN solute carrier family 25, member 16 229 coenzyme biosynthetic process|pantothenate metabolic process integral to membrane|mitochondrial inner membrane binding|solute:solute antiporter activity 0 ATTGTCTGATGAAGGTCTGCC 0.383 NA 5 31 0 0 0.00308 0 0 SAMD8 142891 broad.mit.edu 37 10 76924415 76924415 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr10:76924415C>T uc001jwx.1 + 3 694 c.591C>T c.(589-591)ATC>ATT p.I197I SAMD8_uc001jwy.1_Silent_p.I197I NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 197 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) TTCCTAGAATCCCATGGGCCT 0.408 NA 14 79 0 0 0.003163 0 0 F2 2147 broad.mit.edu 37 11 46744741 46744741 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr11:46744741G>A uc001ndf.3 + 5 371 c.328G>A c.(328-330)GAG>AAG p.E110K F2_uc001ndg.3_RNA NM_000506 NP_000497 P00734 THRB_HUMAN coagulation factor II preproprotein 110 Kringle 1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity ovary(3) 3 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TAACTGTGCTGAGGGTCTGGG 0.582 Esophageal Squamous(147;1147 1808 2148 38609 51144) NA 25 95 0 0 0.00632 0 0 GLYAT 10249 broad.mit.edu 37 11 58480243 58480243 + Silent SNP T T C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr11:58480243T>C uc001nnb.2 - 4 461 c.306A>G c.(304-306)TTA>TTG p.L102L GLYAT_uc001nnc.2_Silent_p.L102L NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 102 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TTTGAATCTGTAAATGCTGTT 0.408 NA 15 39 0 0 0.003163 0 0 STX3 6809 broad.mit.edu 37 11 59564823 59564823 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr11:59564823C>T uc001nog.2 + 10 1044 c.854C>T c.(853-855)TCC>TTC p.S285F STX3_uc010rkx.1_Intron|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_Missense_Mutation_p.S151F NM_004177 NP_004168 Q13277 STX3_HUMAN syntaxin 3 285 Extracellular (Potential). cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity ovary(2) 2 ATTGGACTTTCCGTTGGGCTG 0.403 NA 8 58 0 0 0.006214 0 0 RAB3IL1 5866 broad.mit.edu 37 11 61672051 61672051 + Missense_Mutation SNP A A T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr11:61672051A>T uc001nso.2 - 7 1024 c.866T>A c.(865-867)GTG>GAG p.V289E RAB3IL1_uc001nsp.2_Missense_Mutation_p.V263E NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 289 protein binding skin(2)|central_nervous_system(1) 3 GGCCACCTTCACTGTGGGCAG 0.617 NA 23 19 0 0 0.00278 0 0 NXF1 10482 broad.mit.edu 37 11 62566046 62566046 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr11:62566046C>T uc001nvf.1 - 11 1154 c.1018G>A c.(1018-1020)GCC>ACC p.A340T NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.A383T|NXF1_uc010rmh.1_3'UTR NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 340 Interaction with THOC4.|LRR 3. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TCGCGAATGGCGCTGTCAAGA 0.502 NA 30 59 0 0 0.002096 0 0 C2CD3 26005 broad.mit.edu 37 11 73849987 73849987 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr11:73849987C>T uc001ouu.2 - 5 960 c.733G>A c.(733-735)GAG>AAG p.E245K C2CD3_uc001ouv.2_Missense_Mutation_p.E245K NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 245 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TCAGGGTTCTCTGCAAAGCAT 0.378 NA 11 19 0 0 0.000978 0 0 NAALAD2 10003 broad.mit.edu 37 11 89880534 89880534 + Missense_Mutation SNP A A C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr11:89880534A>C uc001pdf.3 + 3 340 c.231A>C c.(229-231)GAA>GAC p.E77D NAALAD2_uc009yvx.2_Missense_Mutation_p.E77D|NAALAD2_uc009yvy.2_Missense_Mutation_p.E77D|NAALAD2_uc001pdd.2_Missense_Mutation_p.E77D|NAALAD2_uc001pde.2_Missense_Mutation_p.E77D NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 77 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CAGGAACAGAACAAAATTTCT 0.378 NA 20 26 0 0 0.001216 0 0 B3GAT1 27087 broad.mit.edu 37 11 134253852 134253852 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr11:134253852G>T uc001qhq.2 - 4 604 c.343C>A c.(343-345)CTC>ATC p.L115I B3GAT1_uc001qhr.2_Missense_Mutation_p.L115I|B3GAT1_uc010scv.1_Missense_Mutation_p.L128I NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 115 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) AGCCAGTGGAGGTTGGGCACG 0.706 NA 9 4 1.76689e-08 3.78986e-08 0.006214 1 0 GALNT8 26290 broad.mit.edu 37 12 4835792 4835792 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr12:4835792G>A uc001qne.1 + 2 398 c.306G>A c.(304-306)ATG>ATA p.M102I NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 102 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 TAAAGGCAATGGAAACCAAGG 0.453 Colon(108;631 1558 7270 20097 39846) NA 10 4 0 0 0.006214 0 0 PKP2 5318 broad.mit.edu 37 12 33003796 33003796 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr12:33003796C>G uc001rlj.3 - 5 1397 c.1282G>C c.(1282-1284)GAC>CAC p.D428H PKP2_uc001rlk.3_Missense_Mutation_p.D428H|PKP2_uc010skj.1_Missense_Mutation_p.D428H NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 428 ARM 3. cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AATTTGTTGTCATTGTCTTCA 0.463 NA 28 60 0 0 0.002445 0 0 C12orf52 84934 broad.mit.edu 37 12 113629333 113629333 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr12:113629333C>T uc001tur.1 + 4 989 c.521C>T c.(520-522)CCG>CTG p.P174L C12orf52_uc009zwg.1_Missense_Mutation_p.P171L|C12orf52_uc001tus.1_Missense_Mutation_p.P174L|C12orf52_uc001tut.1_Missense_Mutation_p.P198L NM_032848 NP_116237 Q96K30 RITA_HUMAN hypothetical protein LOC84934 174 Interaction with tubulin. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding 0 AAGACAGAGCCGGGGCCAGCG 0.637 NA 4 29 0 0 0.000248 0 0 MLEC 9761 broad.mit.edu 37 12 121132786 121132786 + Missense_Mutation SNP T T G rs144903763 TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr12:121132786T>G uc001tyy.1 + 3 725 c.574T>G c.(574-576)TAC>GAC p.Y192D NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 192 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 AGGGAAACTCTACATTGAGTT 0.493 NA 38 93 0 0 0.003755 0 0 SETD8 387893 broad.mit.edu 37 12 123892161 123892161 + Silent SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr12:123892161C>A uc001uew.2 + 8 1012 c.970C>A c.(970-972)CGA>AGA p.R324R SETD8_uc001uex.2_Silent_p.R259R NM_020382 NP_065115 Q9NQR1 SETD8_HUMAN SET domain-containing 8 365 SET. cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) CATCGCCTCCCGAGACATCGC 0.572 NA 4 28 0.00116845 0.00230573 0.001168 1 0 ZNF664 144348 broad.mit.edu 37 12 124497004 124497004 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr12:124497004C>T uc001ufz.2 + 6 2143 c.313C>T c.(313-315)CAT>TAT p.H105Y ZNF664_uc001uga.2_Missense_Mutation_p.H105Y|ZNF664_uc001ugb.2_Missense_Mutation_p.H105Y NM_152437 NP_689650 Q8N3J9 ZN664_HUMAN zinc finger protein 664 105 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) TCTTCAAATTCATATGAGAGT 0.408 NA 11 68 0 0 0.001368 0 0 IL17D 53342 broad.mit.edu 37 13 21295883 21295883 + Missense_Mutation SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr13:21295883C>A uc001unm.2 + 3 507 c.399C>A c.(397-399)AGC>AGA p.S133R NM_138284 NP_612141 Q8TAD2 IL17D_HUMAN interleukin 17D precursor 133 inflammatory response extracellular space cytokine activity 0 all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414) GCTTCCGCAGCGCCCCTGTCT 0.716 NA 17 18 1.15088e-07 2.43328e-07 0.004007 1 0 LNX2 222484 broad.mit.edu 37 13 28141976 28141976 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr13:28141976G>C uc001url.3 - 4 965 c.656C>G c.(655-657)ACC>AGC p.T219S LNX2_uc001urm.1_Missense_Mutation_p.T219S NM_153371 NP_699202 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 219 zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 6 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CTGTTGTGTGGCTGCCAAGTT 0.363 NA 5 27 0 0 0.001168 0 0 FLT3 2322 broad.mit.edu 37 13 28636175 28636175 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr13:28636175G>T uc001urw.2 - 3 279 c.197C>A c.(196-198)GCG>GAG p.A66E FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.A66E NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 66 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.599_560>LTGSSDNEYFYVDFREYEY(1) haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GGGTCTCAACGCACACCCGAG 0.537 NA Mis|O AML|ALL 66 23 7.1157e-29 1.62019e-28 0.00361 1 0 NBEA 26960 broad.mit.edu 37 13 36125086 36125086 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr13:36125086C>G uc001uvb.2 + 43 6929 c.6723C>G c.(6721-6723)TTC>TTG p.F2241L NBEA_uc010abi.2_Missense_Mutation_p.F897L|NBEA_uc010tee.1_Missense_Mutation_p.F34L|NBEA_uc010tef.1_Missense_Mutation_p.F34L|NBEA_uc010teg.1_Missense_Mutation_p.F34L NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2241 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGTTTAATTTCCCTGATCAAG 0.388 NA 14 27 0 0 0.00245 0 0 KIAA0564 23078 broad.mit.edu 37 13 42277540 42277540 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr13:42277540G>T uc001uyj.2 - 27 3194 c.3124C>A c.(3124-3126)CTG>ATG p.L1042M NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1042 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TGTTCTGGCAGAGTCAACCTG 0.368 NA 8 15 9.70103e-10 2.12704e-09 0.000673 1 0 EFNB2 1948 broad.mit.edu 37 13 107148121 107148121 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr13:107148121C>T uc001vqi.2 - 3 499 c.474G>A c.(472-474)ATG>ATA p.M158I NM_004093 NP_004084 P52799 EFNB2_HUMAN ephrin B2 precursor 158 Extracellular (Potential). cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding ovary(1) 1 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TGAGGATCTTCATGGCTCTTG 0.468 NA 38 103 0 0 0.006999 0 0 P704P 641455 broad.mit.edu 37 14 20020001 20020001 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:20020001C>T uc001vwc.3 - 1 272 c.220G>A c.(220-222)GGG>AGG p.G74R P704P_uc001vwb.3_RNA NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN prostate-specific P704P 74 0 TTGCCGCTCCCCCTGCACCAG 0.587 NA 190 499 0 0 0.00361 0 0 RNASE12 493901 broad.mit.edu 37 14 21058512 21058512 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:21058512G>A uc001vxt.2 - 1 471 c.371C>T c.(370-372)TCC>TTC p.S124F RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank NM_001024822 NP_001019993 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 124 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) CTCTGTGGGGGAATAGTGGTA 0.458 NA 10 55 0 0 0.000978 0 0 C14orf37 145407 broad.mit.edu 37 14 58605804 58605804 + Silent SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:58605804C>G uc001xdc.2 - 2 384 c.273G>C c.(271-273)TCG>TCC p.S91S C14orf37_uc010tro.1_Silent_p.S129S|C14orf37_uc001xdd.2_Silent_p.S91S|C14orf37_uc001xde.2_Silent_p.S91S NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 91 Extracellular (Potential). integral to membrane binding 0 CTTTGTTAATCGAGAATGCTT 0.488 NA 8 66 0 0 0.00308 0 0 ARID4A 5926 broad.mit.edu 37 14 58831658 58831658 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:58831658C>G uc001xdp.2 + 20 3105 c.2851C>G c.(2851-2853)CTG>GTG p.L951V ARID4A_uc001xdo.2_Missense_Mutation_p.L951V|ARID4A_uc001xdq.2_Missense_Mutation_p.L951V|ARID4A_uc010apg.1_Missense_Mutation_p.L629V NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 951 Retinoblastoma protein binding (Potential). negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 TGCAATGCCTCTGATCGGGCC 0.408 NA 24 49 0 0 0.00278 0 0 C14orf169 79697 broad.mit.edu 37 14 73957841 73957841 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:73957841G>A uc001xok.1 + 1 198 c.119G>A c.(118-120)CGA>CAA p.R40Q HEATR4_uc010tua.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN chromosome 14 open reading frame 169 40 negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) AGGAAGATACGAAAGCAGCTG 0.672 NA 5 47 0 0 0.001168 0 0 ISM2 145501 broad.mit.edu 37 14 77942387 77942387 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:77942387G>T uc001xtz.2 - 7 1341 c.1267C>A c.(1267-1269)CTG>ATG p.L423M ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.L335M|ISM2_uc010tvl.1_Missense_Mutation_p.L342M NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 423 AMOP. extracellular region skin(1) 1 AGGTCCCGCAGCATCTGGCTC 0.607 NA 67 12 7.577e-32 1.7386e-31 0.00361 1 0 TRIP11 9321 broad.mit.edu 37 14 92480716 92480716 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:92480716C>G uc001xzy.2 - 7 1817 c.1029G>C c.(1027-1029)AAG>AAC p.K343N TRIP11_uc010auf.1_Missense_Mutation_p.K108N NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 343 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTATTTGTCTCTTTTCCACAT 0.303 Ovarian(84;609 1888 9852 42686) NA T PDGFRB AML 15 32 0 0 0.003163 0 0 C14orf68 283600 broad.mit.edu 37 14 100793565 100793565 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:100793565C>T uc001yhc.2 + 4 258 c.185C>T c.(184-186)ACG>ATG p.T62M C14orf68_uc001yhd.2_Translation_Start_Site NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 62 Solcar 1.|Helical; Name=2; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) CCCGTGTGCACGGTGTCCCTG 0.667 NA 15 99 0 0 0.004007 0 0 BUB1B 701 broad.mit.edu 37 15 40475921 40475921 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr15:40475921C>G uc001zkx.3 + 6 800 c.588C>G c.(586-588)TTC>TTG p.F196L BUB1B_uc010ucl.1_Missense_Mutation_p.F59L NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 196 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TTAGACAATTCCAAGCTCGAG 0.398 NA Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 6 10 0 0 0.00308 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42375420 42375420 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr15:42375420C>G uc001zox.2 - 8 743 c.648G>C c.(646-648)GAG>GAC p.E216D NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 216 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) TCAGCTCTGTCTCTAGGGCTG 0.622 NA 8 15 0 0 0.004482 0 0 PML 5371 broad.mit.edu 37 15 74325578 74325578 + Nonsense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr15:74325578G>T uc002awv.2 + 6 1620 c.1480G>T c.(1480-1482)GAG>TAG p.E494* PML_uc002awm.2_Nonsense_Mutation_p.E494*|PML_uc002awl.2_Intron|PML_uc002awj.1_Nonsense_Mutation_p.E446*|PML_uc002awk.2_Nonsense_Mutation_p.E494*|PML_uc002awn.2_Nonsense_Mutation_p.E494*|PML_uc002awo.2_Nonsense_Mutation_p.E446*|PML_uc002awp.2_Intron|PML_uc002awq.2_Nonsense_Mutation_p.E494*|PML_uc002awr.2_Nonsense_Mutation_p.E494*|PML_uc002aws.2_Nonsense_Mutation_p.E446*|PML_uc002awt.2_Intron|PML_uc002awu.2_Nonsense_Mutation_p.E446*|PML_uc010ule.1_Nonsense_Mutation_p.E55*|PML_uc002awx.2_Nonsense_Mutation_p.E204*|PML_uc002awy.2_5'UTR NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 494 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 GATGGAGTCTGAGGAGGGGAA 0.612 NA T RARA|PAX5 APL|ALL 10 19 7.48243e-07 1.53805e-06 0.006214 1 0 HAPLN3 145864 broad.mit.edu 37 15 89421266 89421266 + Nonsense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr15:89421266G>A uc002bnc.2 - 5 1146 c.1018C>T c.(1018-1020)CGA>TGA p.R340* HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Nonsense_Mutation_p.R402* NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 340 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) CCAAAGCTTCGGACCCCAGGC 0.662 NA 8 32 0 0 0.00308 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923359 9923359 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr16:9923359G>C uc002czo.3 - 9 2476 c.1928C>G c.(1927-1929)GCT>GGT p.A643G GRIN2A_uc010uym.1_Missense_Mutation_p.A643G|GRIN2A_uc010uyn.1_Missense_Mutation_p.A486G|GRIN2A_uc002czr.3_Missense_Mutation_p.A643G NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 643 Helical; (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTGTAGCTAGCCAGGAATAT 0.502 NA 4 59 0 0 0.000602 0 0 NOMO1 23420 broad.mit.edu 37 16 14972646 14972646 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr16:14972646C>T uc002dcv.2 + 23 2778 c.2712C>T c.(2710-2712)TCC>TCT p.S904S NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 904 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 TGTTTCGTTCCAACCTCTTGA 0.537 NA 42 123 0 0 0.00361 0 0 GLG1 2734 broad.mit.edu 37 16 74525005 74525005 + Missense_Mutation SNP A A G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr16:74525005A>G uc002fcy.3 - 8 1393 c.1343T>C c.(1342-1344)ATT>ACT p.I448T GLG1_uc002fcx.2_Missense_Mutation_p.I448T|GLG1_uc002fcw.3_Missense_Mutation_p.I437T|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 448 Extracellular (Potential).|Cys-rich GLG1 6. Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 ATGGTGTTCAATCTCCCCCCG 0.522 NA 19 64 0 0 0.001216 0 0 POLR2A 5430 broad.mit.edu 37 17 7417451 7417451 + Silent SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr17:7417451C>A uc002ghf.3 + 29 6102 c.5868C>A c.(5866-5868)CTC>CTA p.L1956L NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1956 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].|52; approximate. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) CCTACAGTCTCACAAGCCCGG 0.527 NA 7 22 3.09899e-07 6.45986e-07 0.004482 1 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 220 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGCGGCTCATAGGGCACCAC 0.557 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 8 0 0 0.004007 0 0 NLK 51701 broad.mit.edu 37 17 26512286 26512286 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr17:26512286G>C uc010crj.2 + 8 1443 c.1231G>C c.(1231-1233)GAT>CAT p.D411H NLK_uc010cri.1_RNA NM_016231 NP_057315 Q9UBE8 NLK_HUMAN nemo like kinase 411 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GTTGGTCTTTGATCCAGTAAG 0.333 NA 3 8 0 0 0.004672 0 0 GOSR2 9570 broad.mit.edu 37 17 45016025 45016025 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr17:45016025C>T uc002ila.2 + 6 611 c.538C>T c.(538-540)CGG>TGG p.R180W GOSR2_uc010wkh.1_Missense_Mutation_p.R180W|GOSR2_uc002ikz.2_Missense_Mutation_p.R180W NM_004287 NP_004278 O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 isoform A 180 Cytoplasmic (Potential). cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(9;0.102) CACAGTGATGCGGCTCATCGA 0.493 NA 41 139 0 0 0.001951 0 0 TTLL6 284076 broad.mit.edu 37 17 46846427 46846427 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr17:46846427C>T uc010wlo.1 - 16 2635 c.2600G>A c.(2599-2601)AGG>AAG p.R867K TTLL6_uc002iob.2_Missense_Mutation_p.R560K|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Missense_Mutation_p.R620K|TTLL6_uc002iod.2_Intron NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 819 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 ACATGGGTCCCTCATAGCACT 0.507 NA 11 50 0 0 0.000673 0 0 CCDC47 57003 broad.mit.edu 37 17 61842114 61842114 + Missense_Mutation SNP T T C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr17:61842114T>C uc002jbs.3 - 3 694 c.358A>G c.(358-360)ATA>GTA p.I120V CCDC47_uc010ddx.2_Missense_Mutation_p.I120V|CCDC47_uc002jbt.2_Missense_Mutation_p.I120V NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 120 integral to membrane protein binding 0 ACAATCGTTATTGGGTCTTTA 0.343 NA 13 31 0 0 0.004007 0 0 SERPINB10 5273 broad.mit.edu 37 18 61582871 61582871 + Missense_Mutation SNP T T C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr18:61582871T>C uc010xev.1 + 2 217 c.127T>C c.(127-129)TAT>CAT p.Y43H SERPINB2_uc002ljp.1_Missense_Mutation_p.Y184H|SERPINB2_uc002ljq.1_Missense_Mutation_p.Y157H|SERPINB10_uc010xew.1_Missense_Mutation_p.Y43H NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 43 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) GACCATAGTGTATTTGGGCGC 0.453 NA 17 17 0 0 0.00499 0 0 FBXW9 84261 broad.mit.edu 37 19 12807158 12807158 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:12807158G>C uc010dyx.2 - 1 238 c.238C>G c.(238-240)CTG>GTG p.L80V FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.L80V|FBXW9_uc002mun.1_5'UTR NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 80 F-box. protein binding ovary(1) 1 GGAAGGCTCAGAAGGCCCGGC 0.711 NA 2 3 0 0 0.004672 0 0 OR10H2 26538 broad.mit.edu 37 19 15839226 15839226 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:15839226G>A uc002nbm.2 + 1 393 c.373G>A c.(373-375)GCC>ACC p.A125T NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CCGCTACGTGGCCATCTGCCA 0.642 NA 15 13 0 0 0.00278 0 0 ZNF43 7594 broad.mit.edu 37 19 21990830 21990830 + Missense_Mutation SNP A A C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:21990830A>C uc002nqj.2 - 4 2139 c.2009T>G c.(2008-2010)ATA>AGA p.I670R ZNF43_uc010ecv.2_Missense_Mutation_p.I664R|ZNF43_uc002nql.2_Missense_Mutation_p.I664R|ZNF43_uc002nqm.2_Missense_Mutation_p.I664R|ZNF43_uc002nqk.2_Missense_Mutation_p.I600R NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 670 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AGTATGAATTATCTTATGTTT 0.368 NA 3 49 0 0 0.000602 0 0 UBA2 10054 broad.mit.edu 37 19 34936003 34936003 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:34936003G>T uc002nvk.2 + 8 818 c.748G>T c.(748-750)GAT>TAT p.D250Y UBA2_uc010xrx.1_Missense_Mutation_p.D123Y|UBA2_uc002nvl.2_Missense_Mutation_p.D154Y NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 250 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) AACTGGATATGATCCAGTTAA 0.358 NA 23 35 7.88262e-20 1.76762e-19 0.00333 1 0 SPINT2 10653 broad.mit.edu 37 19 38779813 38779813 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:38779813G>A uc002ohr.1 + 4 704 c.373G>A c.(373-375)GAT>AAT p.D125N SPINT2_uc002ohs.1_Missense_Mutation_p.D68N NM_021102 NP_066925 O43291 SPIT2_HUMAN serine protease inhibitor, Kunitz type, 2 125 Extracellular (Potential). cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity 0 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCACTCCAGCGATATGTTCAA 0.338 NA 40 53 0 0 0.002222 0 0 KDELR1 10945 broad.mit.edu 37 19 48887602 48887602 + Silent SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:48887602G>C uc002pjb.1 - 4 684 c.489C>G c.(487-489)CTC>CTG p.L163L KDELR1_uc002pja.1_Silent_p.L101L NM_006801 NP_006792 P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum 163 Helical; (Potential). intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity 0 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) TCCAGTTGAAGAGATAGAGCG 0.562 NA 6 27 0 0 0.00308 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918513 51918513 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:51918513C>G uc002pwo.2 - 7 1868 c.1252G>C c.(1252-1254)GAG>CAG p.E418Q SIGLEC10_uc002pwp.2_Missense_Mutation_p.E360Q|SIGLEC10_uc002pwq.2_Missense_Mutation_p.E360Q|SIGLEC10_uc002pwr.2_Missense_Mutation_p.E418Q|SIGLEC10_uc010ycy.1_Missense_Mutation_p.E328Q|SIGLEC10_uc010ycz.1_Missense_Mutation_p.E370Q|SIGLEC10_uc010eow.2_Missense_Mutation_p.E230Q|SIGLEC10_uc002pws.1_Missense_Mutation_p.E254Q NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 418 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CCTTCGTGCTCCACTTGAACC 0.672 NA 12 50 0 0 0.001368 0 0 ZNF552 79818 broad.mit.edu 37 19 58319454 58319454 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:58319454G>T uc002qqg.2 - 3 1348 c.1178C>A c.(1177-1179)TCT>TAT p.S393Y ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.S389Y NM_024762 NP_079038 Q9H707 ZN552_HUMAN zinc finger protein 552 393 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) ACGAAGTGAAGAGATTTGCCT 0.413 NA 11 70 7.03913e-09 1.53205e-08 0.001368 1 0 HSPC159 29094 broad.mit.edu 37 2 64685477 64685477 + Missense_Mutation SNP T T C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr2:64685477T>C uc002scy.3 + 5 787 c.434T>C c.(433-435)TTT>TCT p.F145S NM_014181 NP_054900 Q3ZCW2 LEGL_HUMAN galectin-related protein 145 Galectin. intracellular sugar binding 0 CACCAACTTTTTGATTTTTAC 0.393 NA 62 96 0 0 0.00361 0 0 SLC20A1 6574 broad.mit.edu 37 2 113420601 113420601 + Silent SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr2:113420601G>A uc002tib.2 + 11 2485 c.2039G>A c.(2038-2040)TGA>TAA p.*680* NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 680 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 CTCAGAATGTGAAGCTGTTTG 0.403 NA 13 78 0 0 0.003163 0 0 ERMN 57471 broad.mit.edu 37 2 158177848 158177848 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr2:158177848G>A uc002tzh.2 - 3 1052 c.790C>T c.(790-792)CGG>TGG p.R264W ERMN_uc010zcj.1_Missense_Mutation_p.R158W|ERMN_uc010zck.1_Missense_Mutation_p.R244W|ERMN_uc002tzi.2_Missense_Mutation_p.R277W NM_020711 NP_065762 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein isoform b 264 cytoplasm|cytoskeleton ovary(1)|skin(1) 2 CTGATTTTCCGATAGGATATT 0.393 NA 14 102 0 0 0.00245 0 0 ZAK 51776 broad.mit.edu 37 2 174081930 174081930 + Missense_Mutation SNP A A C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr2:174081930A>C uc002uhz.2 + 11 1139 c.939A>C c.(937-939)AGA>AGC p.R313S ZAK_uc002uhy.2_Missense_Mutation_p.R313S|ZAK_uc010zei.1_Missense_Mutation_p.R212S|ZAK_uc002uia.1_Missense_Mutation_p.R313S|uc002uib.2_Intron NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 313 activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) AACGAGAAAGACGTTTAAAGA 0.522 NA 8 32 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179604792 179604792 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr2:179604792C>G uc010zfh.1 - 46 12879 c.12655G>C c.(12655-12657)GAG>CAG p.E4219Q TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4152Q|TTN_uc010zfj.1_Missense_Mutation_p.E4027Q|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) AATCTCTGCTCTTCTGGAATA 0.468 NA 20 28 0 0 0.001216 0 0 NRP2 8828 broad.mit.edu 37 2 206590657 206590657 + Missense_Mutation SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr2:206590657C>A uc002vaw.2 + 6 1632 c.841C>A c.(841-843)CTG>ATG p.L281M NRP2_uc002vat.2_Missense_Mutation_p.L281M|NRP2_uc002vau.2_Missense_Mutation_p.L281M|NRP2_uc002vav.2_Missense_Mutation_p.L281M|NRP2_uc002vax.2_Missense_Mutation_p.L281M|NRP2_uc002vay.2_Missense_Mutation_p.L281M|NRP2_uc010fud.2_Missense_Mutation_p.L281M NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 281 Extracellular (Potential).|F5/8 type C 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 CAATGTTCCTCTGGGCATGGA 0.537 NA 13 41 0.000219431 0.000435917 0.00245 1 0 SLC4A3 6508 broad.mit.edu 37 2 220494078 220494078 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr2:220494078G>A uc002vmp.3 + 4 699 c.430G>A c.(430-432)GAG>AAG p.E144K SLC4A3_uc002vmn.2_Missense_Mutation_p.E144K|SLC4A3_uc002vmo.3_Missense_Mutation_p.E144K|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 144 Poly-Glu.|Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) agaggaggaagaggaAGGAGA 0.527 NA 3 9 0 0 0.000602 0 0 RALGAPB 57148 broad.mit.edu 37 20 37202806 37202806 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr20:37202806G>C uc002xiw.2 + 29 4413 c.4156G>C c.(4156-4158)GAA>CAA p.E1386Q RALGAPB_uc002xix.2_Missense_Mutation_p.E1383Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.E1165Q NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1386 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TACAACTCTTGAAAAAGAAGT 0.398 NA 9 78 0 0 0.004482 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038708 62038708 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr20:62038708C>G uc002yey.1 - 17 2085 c.1908G>C c.(1906-1908)AAG>AAC p.K636N KCNQ2_uc002yez.1_Missense_Mutation_p.K605N|KCNQ2_uc002yfa.1_Missense_Mutation_p.K618N|KCNQ2_uc002yfb.1_Missense_Mutation_p.K608N NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 636 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GGAAGTCCAGCTTCTTCTCCA 0.642 NA 6 29 0 0 0.001168 0 0 GRIK1 2897 broad.mit.edu 37 21 30933950 30933950 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr21:30933950G>A uc002yno.1 - 15 2815 c.2351C>T c.(2350-2352)CCT>CTT p.P784L GRIK1_uc002ynn.2_Missense_Mutation_p.P769L|GRIK1_uc011acs.1_Missense_Mutation_p.P784L|GRIK1_uc011act.1_Missense_Mutation_p.P645L NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 784 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CTTACCAATAGGTGTTCCCAC 0.468 NA 6 11 0 0 0.001168 0 0 TTC3 7267 broad.mit.edu 37 21 38537922 38537922 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr21:38537922G>C uc002yvz.2 + 33 3511 c.3406G>C c.(3406-3408)GAG>CAG p.E1136Q TTC3_uc011aee.1_Missense_Mutation_p.E826Q|TTC3_uc002ywa.2_Missense_Mutation_p.E1136Q|TTC3_uc002ywb.2_Missense_Mutation_p.E1136Q|TTC3_uc010gnf.2_Missense_Mutation_p.E901Q|TTC3_uc002ywc.2_Missense_Mutation_p.E826Q|TTC3_uc002ywd.1_Missense_Mutation_p.E200Q NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1136 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TGCAGAATATGAGTTTTTCCC 0.373 Ovarian(38;194 1649 35661) NA 33 113 0 0 0.003755 0 0 PCNT 5116 broad.mit.edu 37 21 47855999 47855999 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr21:47855999G>C uc002zji.3 + 39 9041 c.8934G>C c.(8932-8934)ATG>ATC p.M2978I PCNT_uc002zjj.2_Missense_Mutation_p.M2781I NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2978 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TGGAGGCGATGAGGCAGCGGC 0.697 NA 10 21 0 0 0.006214 0 0 TMEM184B 25829 broad.mit.edu 37 22 38641953 38641953 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr22:38641953C>T uc003avf.1 - 3 570 c.346G>A c.(346-348)GAC>AAC p.D116N TMEM184B_uc003avg.1_Missense_Mutation_p.D116N|TMEM184B_uc003avh.1_Missense_Mutation_p.D50N|TMEM184B_uc010gxl.1_RNA NM_012264 NP_036396 Q9Y519 T184B_HUMAN transmembrane protein 184B 116 integral to membrane 0 Melanoma(58;0.045) TCATAGCAGTCGCGGACGGTG 0.642 NA 5 9 0 0 0.001168 0 0 FEZF2 55079 broad.mit.edu 37 3 62358290 62358290 + Nonsense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr3:62358290G>C uc003dlh.2 - 1 461 c.254C>G c.(253-255)TCA>TGA p.S85* FEZF2_uc003dli.2_Nonsense_Mutation_p.S85* NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 85 transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) CAGTGTCTTTGACGGCACCTC 0.507 NSCLC(170;1772 2053 12525 15604 23984) NA 5 15 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 3 126915686 126915686 + Missense_Mutation SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr3:126915686C>A uc003eji.1 + 2 398 c.158C>A c.(157-159)ACT>AAT p.T53N RecName: Full=Putative uncharacterized protein C3orf56; NA CAGCCTGTAACTGACCTGGCC 0.612 NA 11 5 1.58986e-06 3.24552e-06 0.000673 1 0 SHROOM3 57619 broad.mit.edu 37 4 77476912 77476912 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr4:77476912C>T uc011cbx.1 + 2 1272 c.319C>T c.(319-321)CGC>TGC p.R107C NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 107 PDZ. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GCTGGTAGTGCGCAGGTAGGT 0.393 NA 6 14 0 0 0.001168 0 0 NHEDC1 150159 broad.mit.edu 37 4 103910990 103910990 + Silent SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr4:103910990G>A uc003hww.2 - 3 300 c.178C>T c.(178-180)CTA>TTA p.L60L NHEDC1_uc003hwu.2_Silent_p.L60L|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 60 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) ACTCCTCTTAGAGGACAAGAA 0.284 NA 7 13 0 0 0.004482 0 0 SCLT1 132320 broad.mit.edu 37 4 129857944 129857944 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr4:129857944C>G uc003igp.2 - 18 2201 c.1695G>C c.(1693-1695)GAG>GAC p.E565D SCLT1_uc003ign.2_Missense_Mutation_p.E229D|SCLT1_uc003igo.2_Missense_Mutation_p.E175D|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 565 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 TGTCTTCCATCTCTCTCAATT 0.343 NA 3 24 0 0 0.004672 0 0 PCDH18 54510 broad.mit.edu 37 4 138452016 138452016 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr4:138452016C>G uc003ihe.3 - 1 1614 c.1227G>C c.(1225-1227)AAG>AAC p.K409N PCDH18_uc003ihf.3_Missense_Mutation_p.K402N|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.K189N|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 409 Cadherin 4.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TTTCATATGTCTTCTGAAGTT 0.383 NA 21 33 0 0 0.001882 0 0 LPCAT1 79888 broad.mit.edu 37 5 1479756 1479756 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:1479756G>A uc003jcm.2 - 8 913 c.796C>T c.(796-798)CAC>TAC p.H266Y NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 266 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) ACTTGGTTGTGAAACTGACAC 0.448 NA OREG0016481 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 20 0 0 0.001984 0 0 DNAH5 1767 broad.mit.edu 37 5 13692194 13692194 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:13692194G>C uc003jfd.2 - 79 13816 c.13774C>G c.(13774-13776)CGA>GGA p.R4592G DNAH5_uc003jfc.2_Missense_Mutation_p.R760G NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4592 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) AAGTCCGTTCGAACTGGCTTC 0.468 NA Kartagener_syndrome 11 45 0 0 0.001368 0 0 DNAH5 1767 broad.mit.edu 37 5 13830323 13830323 + Splice_Site SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:13830323C>T uc003jfd.2 - 37 6104 c.6062_splice c.e37-1 p.G2021_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 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) TGTGCCAGTCCTTCGAAAGGA 0.363 NA Kartagener_syndrome 13 11 0 0 0.001855 0 0 CMYA5 202333 broad.mit.edu 37 5 79032782 79032782 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:79032782G>T uc003kgc.2 + 2 8266 c.8194G>T c.(8194-8196)GAT>TAT p.D2732Y NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2732 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTCTTGTCATGATGAAATAGA 0.393 NA 10 19 2.17888e-05 4.35775e-05 0.006214 1 0 APC 324 broad.mit.edu 37 5 112154981 112154981 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:112154981G>C uc010jby.2 + 10 1632 c.1252G>C c.(1252-1254)GAA>CAA p.E418Q APC_uc011cvt.1_Missense_Mutation_p.E400Q|APC_uc003kpz.3_Missense_Mutation_p.E418Q|APC_uc003kpy.3_Missense_Mutation_p.E418Q|APC_uc010jbz.2_Missense_Mutation_p.E135Q|APC_uc010jca.2_5'Flank NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 418 Leu-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 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) CGCTTACTGTGAAACCTGTTG 0.468 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) 6 26 0 0 0.00308 0 0 RAD50 10111 broad.mit.edu 37 5 131978009 131978009 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:131978009G>C uc003kxi.2 + 25 4279 c.3892G>C c.(3892-3894)GAG>CAG p.E1298Q RAD50_uc003kxh.2_Missense_Mutation_p.E1159Q NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 1298 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCAGTGCTCAGAGATTGTGAA 0.358 NA Homologous_recombination 6 22 0 0 0.001984 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139876307 139876307 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:139876307G>C uc003lfs.1 + 15 2572 c.2448G>C c.(2446-2448)AAG>AAC p.K816N ANKHD1_uc003lfq.1_Missense_Mutation_p.K835N|ANKHD1_uc003lfr.2_Missense_Mutation_p.K816N|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.K296N|ANKHD1_uc003lfv.1_Intron NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 816 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAAGATAAGATAGAAGAAC 0.373 NA 16 30 0 0 0.006122 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203499 140203499 + Silent SNP G G A rs151078612 TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:140203499G>A uc003lhl.2 + 1 2139 c.2139G>A c.(2137-2139)ACG>ACA p.T713T 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_Silent_p.T713T|PCDHA5_uc003lhj.1_Silent_p.T713T NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 713 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGCTCACGCTGCTGCTGT 0.692 NA 14 34 0 0 0.001855 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228143 140228143 + Silent SNP C C T rs146722772 TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:140228143C>T uc003lhu.2 + 1 787 c.63C>T c.(61-63)CTC>CTT p.L21L 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.L21L NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 21 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) TTCTGATCCTCGCAATGTGGG 0.562 Melanoma(55;1800 1972 14909) NA 30 48 0 0 0.001786 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764587 140764587 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:140764587C>T uc003lka.1 + 1 2121 c.2121C>T c.(2119-2121)TTC>TTT p.F707F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.F707F|PCDHGB4_uc011dav.1_5'Flank NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 707 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTAGCCTTCGTCCTCGTAC 0.627 NA 8 25 0 0 0.004482 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140779407 140779407 + Missense_Mutation SNP C C A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr5:140779407C>A uc003lkf.1 + 1 1713 c.1713C>A c.(1711-1713)TTC>TTA p.F571L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.F571L NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 571 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGCTCTTCGATATGGTGC 0.667 NA 9 20 0.00448238 0.00878665 0.004482 1 0 OR14J1 442191 broad.mit.edu 37 6 29274772 29274772 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:29274772C>T uc011dln.1 + 1 306 c.306C>T c.(304-306)TTC>TTT p.F102F NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 102 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTTTCTTCTTCATAGCTCTGG 0.438 NA 16 213 0 0 0.00499 0 0 DNAH8 1769 broad.mit.edu 37 6 38885911 38885911 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:38885911C>G uc003ooe.1 + 68 10468 c.9868C>G c.(9868-9870)CTG>GTG p.L3290V uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGTGTTGCCTCTGAAGGTAAA 0.373 NA 6 46 0 0 0.001168 0 0 C6orf226 441150 broad.mit.edu 37 6 42858486 42858486 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:42858486G>C uc003osw.2 - 1 69 c.41C>G c.(40-42)TCT>TGT p.S14C NM_001008739 NP_001008739 Q5I0X4 CF226_HUMAN hypothetical protein LOC441150 14 0 AGCTGAGGCAGAGGCCGGGGC 0.672 NA 14 92 0 0 0.003163 0 0 GPR116 221395 broad.mit.edu 37 6 46847599 46847599 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:46847599G>A uc003oyo.3 - 9 1281 c.992C>T c.(991-993)TCG>TTG p.S331L GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.S331L|GPR116_uc010jzi.1_Missense_Mutation_p.S3L|GPR116_uc003oyr.2_Missense_Mutation_p.S331L NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 331 Ig-like 1.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) CTTGGACACCGAAGTCATGTT 0.453 NSCLC(59;410 1274 8751 36715 50546) NA 9 137 0 0 0.006214 0 0 REV3L 5980 broad.mit.edu 37 6 111714122 111714122 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:111714122G>C uc003puy.3 - 5 942 c.619C>G c.(619-621)CTT>GTT p.L207V REV3L_uc003pux.3_Missense_Mutation_p.L129V|REV3L_uc003puz.3_Missense_Mutation_p.L129V NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 207 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GTATCAGCAAGAGAATTTCCT 0.313 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 5 16 0 0 0.001168 0 0 KPNA5 3841 broad.mit.edu 37 6 117023208 117023208 + Silent SNP T T C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:117023208T>C uc003pxh.2 + 6 593 c.462T>C c.(460-462)AAT>AAC p.N154N NM_002269 NP_002260 O15131 IMA5_HUMAN karyopherin alpha 5 151 NLS binding site (major) (By similarity).|ARM 2. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(3)|skin(1) 4 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) CATTAACAAATATAGCATCTG 0.244 NA 6 40 0 0 0.001984 0 0 LATS1 9113 broad.mit.edu 37 6 150004976 150004976 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:150004976G>C uc003qmu.1 - 4 1797 c.1249C>G c.(1249-1251)CAT>GAT p.H417D LATS1_uc010kif.1_Missense_Mutation_p.H312D|LATS1_uc003qmv.1_Missense_Mutation_p.H417D|LATS1_uc003qmw.2_Missense_Mutation_p.H417D|LATS1_uc010kig.1_Missense_Mutation_p.H312D NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 417 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TCCATGTTATGACTATTTCTG 0.453 NA 29 108 0 0 0.007291 0 0 SYNE1 23345 broad.mit.edu 37 6 152599341 152599341 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:152599341C>T uc010kiw.2 - 98 19058 c.18456G>A c.(18454-18456)CTG>CTA p.L6152L SYNE1_uc010kiv.2_Silent_p.L676L|SYNE1_uc003qos.3_Silent_p.L676L|SYNE1_uc003qot.3_Silent_p.L6081L|SYNE1_uc003qou.3_Silent_p.L6152L|SYNE1_uc010kiy.1_Silent_p.L331L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6152 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTGCCCTCCAGCAGCAGGT 0.522 NA HNSCC(10;0.0054) 31 89 0 0 0.001786 0 0 PDE10A 10846 broad.mit.edu 37 6 165863740 165863740 + Silent SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr6:165863740G>A uc003qun.2 - 5 547 c.306C>T c.(304-306)ATC>ATT p.I102I PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.I32I|PDE10A_uc003quo.2_Silent_p.I112I NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 102 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CTATTTTAATGATGCTGCTCA 0.378 Esophageal Squamous(22;308 615 5753 12038 40624) NA 17 60 0 0 0.007413 0 0 ABCA13 154664 broad.mit.edu 37 7 48317992 48317992 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr7:48317992G>C uc003toq.2 + 18 7226 c.7201G>C c.(7201-7203)GAC>CAC p.D2401H ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2401 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TAAGTCTGAGGACCTCTTCAA 0.383 NA 10 29 0 0 0.006214 0 0 PON2 5445 broad.mit.edu 37 7 95041643 95041643 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr7:95041643G>C uc003unv.2 - 4 469 c.348C>G c.(346-348)ATC>ATG p.I116M PON2_uc003unu.2_Missense_Mutation_p.I116M|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.I29M NM_000305 NP_000296 Q15165 PON2_HUMAN paraoxonase 2 isoform 1 116 Calcium 2; via carbonyl oxygen (By similarity). aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding 0 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) TGAAAGTGCTGATGCCATGTG 0.393 GBM(42;803 823 13649 23368 31463) NA 20 38 0 0 0.00278 0 0 SLC12A9 56996 broad.mit.edu 37 7 100463720 100463720 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr7:100463720C>T uc003uwp.2 + 14 2380 c.2238C>T c.(2236-2238)CTC>CTT p.L746L SLC12A9_uc011kki.1_Silent_p.L277L|SLC12A9_uc003uwr.2_Silent_p.L482L|SLC12A9_uc003uws.2_Silent_p.L277L|SLC12A9_uc003uwt.2_Silent_p.L482L|SLC12A9_uc003uwv.2_Silent_p.L277L|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 746 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TCTGCGGCCTCTTCCTGCTGC 0.697 NA 17 98 0 0 0.001216 0 0 RELN 5649 broad.mit.edu 37 7 103207077 103207077 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr7:103207077G>A uc003vca.2 - 32 4878 c.4718C>T c.(4717-4719)ACG>ATG p.T1573M RELN_uc010liz.2_Missense_Mutation_p.T1573M NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1573 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCGAAATGCCGTTGCAGGTGT 0.498 NSCLC(146;835 1944 15585 22231 52158) NA 15 28 0 0 0.003163 0 0 FAM40B 57464 broad.mit.edu 37 7 129122844 129122844 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr7:129122844G>C uc011koy.1 + 20 2251 c.2211G>C c.(2209-2211)CAG>CAC p.Q737H FAM40B_uc003vow.2_Missense_Mutation_p.Q737H|FAM40B_uc011koz.1_Missense_Mutation_p.Q229H NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 737 0 CCATTTACCAGAAAGTGCGTC 0.468 NA 4 19 0 0 0.000248 0 0 TMEM176A 55365 broad.mit.edu 37 7 150498696 150498696 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr7:150498696G>C uc003whx.1 + 2 136 c.58G>C c.(58-60)GAT>CAT p.D20H TMEM176B_uc003wht.3_5'Flank|TMEM176B_uc003whu.3_5'Flank|TMEM176B_uc003whv.3_5'Flank|TMEM176B_uc003whw.3_5'Flank NM_018487 NP_060957 Q96HP8 T176A_HUMAN hepatocellular carcinoma-associated antigen 112 20 integral to membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACCCACATCGATGTGCACAT 0.652 NA 8 21 0 0 0.004482 0 0 AMAC1L2 83650 broad.mit.edu 37 8 11189308 11189308 + Silent SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr8:11189308G>T uc003wtp.1 + 1 814 c.693G>T c.(691-693)CTG>CTT p.L231L NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 231 Helical; (Potential). integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) TGGTGGGGCTGCTGGGCTGTG 0.632 NA 10 62 2.27111e-07 4.76772e-07 0.001368 1 0 C8orf79 57604 broad.mit.edu 37 8 12879335 12879335 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr8:12879335G>A uc010lsq.2 + 5 1639 c.1147G>A c.(1147-1149)GAT>AAT p.D383N C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.D296N|C8orf79_uc010lsr.2_Missense_Mutation_p.D257N NM_020844 NP_065895 Q9P272 K1456_HUMAN hypothetical protein LOC57604 isoform 1 383 methyltransferase activity 0 TTCTGCAGTTGATTCCACAGA 0.413 NA 8 20 0 0 0.00308 0 0 OPRK1 4986 broad.mit.edu 37 8 54141989 54141989 + Silent SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr8:54141989G>A uc003xrh.1 - 3 1386 c.1011C>T c.(1009-1011)TTC>TTT p.F337F OPRK1_uc003xri.1_Silent_p.F337F|OPRK1_uc010lyc.1_Silent_p.F248F NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 337 Cytoplasmic (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AACACCGCTTGAAGTTTTCAT 0.493 NA 4 40 0 0 0.000248 0 0 FLJ43860 389690 broad.mit.edu 37 8 142444085 142444085 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr8:142444085C>T uc003ywi.2 - 32 4011 c.3930G>A c.(3928-3930)CAG>CAA p.Q1310Q FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 1310 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCGACACCTTCTGGAGGAAGG 0.637 NA 5 17 0 0 0.000602 0 0 PLEC 5339 broad.mit.edu 37 8 144992130 144992130 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr8:144992130C>T uc003zaf.1 - 32 12440 c.12270G>A c.(12268-12270)ATG>ATA p.M4090I PLEC_uc003zab.1_Missense_Mutation_p.M3953I|PLEC_uc003zac.1_Missense_Mutation_p.M3957I|PLEC_uc003zad.2_Missense_Mutation_p.M3953I|PLEC_uc003zae.1_Missense_Mutation_p.M3921I|PLEC_uc003zag.1_Missense_Mutation_p.M3931I|PLEC_uc003zah.2_Missense_Mutation_p.M3939I|PLEC_uc003zaj.2_Missense_Mutation_p.M3980I NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4090 Plectin 22.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGCCCTTCTTCATGGCCTGGT 0.612 NA 8 31 0 0 0.00308 0 0 PLEC 5339 broad.mit.edu 37 8 144992966 144992966 + Missense_Mutation SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr8:144992966C>T uc003zaf.1 - 32 11604 c.11434G>A c.(11434-11436)GAG>AAG p.E3812K PLEC_uc003zab.1_Missense_Mutation_p.E3675K|PLEC_uc003zac.1_Missense_Mutation_p.E3679K|PLEC_uc003zad.2_Missense_Mutation_p.E3675K|PLEC_uc003zae.1_Missense_Mutation_p.E3643K|PLEC_uc003zag.1_Missense_Mutation_p.E3653K|PLEC_uc003zah.2_Missense_Mutation_p.E3661K|PLEC_uc003zaj.2_Missense_Mutation_p.E3702K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3812 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TCGAGAGCCTCACGGAGGCTC 0.652 NA 9 51 0 0 0.000673 0 0 DMRT1 1761 broad.mit.edu 37 9 893951 893951 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:893951G>A uc003zgv.2 + 3 727 c.578G>A c.(577-579)AGC>AAC p.S193N DMRT1_uc003zgu.1_Missense_Mutation_p.S193N NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 193 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) GCTGTCACCAGCAGAGGGCAT 0.428 NA OREG0019071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 15 0 0 0.001523 0 0 MPDZ 8777 broad.mit.edu 37 9 13121878 13121878 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:13121878C>T uc010mia.1 - 37 5148 c.5091G>A c.(5089-5091)CTG>CTA p.L1697L MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Silent_p.L231L|MPDZ_uc010mib.2_Silent_p.L402L|MPDZ_uc010mhx.2_Silent_p.L519L|MPDZ_uc011lmm.1_Silent_p.L556L|MPDZ_uc003zkz.3_Silent_p.L390L|MPDZ_uc010mhy.2_Silent_p.L1697L|MPDZ_uc010mhz.2_Silent_p.L1664L|MPDZ_uc011lmn.1_Silent_p.L1664L|MPDZ_uc003zlb.3_Silent_p.L1697L NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1697 PDZ 10. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GCGTCTGTCTCAGGACATTGA 0.478 NA 5 22 0 0 0.000602 0 0 DENND4C 55667 broad.mit.edu 37 9 19372102 19372102 + Silent SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:19372102G>A uc003znq.2 + 28 4986 c.4953G>A c.(4951-4953)CAG>CAA p.Q1651Q DENND4C_uc011lnc.1_Silent_p.Q981Q|DENND4C_uc011lnd.1_Silent_p.Q939Q|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_3'UTR NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1651 integral to membrane ovary(1)|skin(1) 2 AAAGGTTGCAGAAAATTGATG 0.378 NA 24 58 0 0 0.003954 0 0 OR13J1 392309 broad.mit.edu 37 9 35869976 35869976 + Silent SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:35869976G>A uc011lph.1 - 1 423 c.423C>T c.(421-423)TGC>TGT p.C141C NM_001004487 NP_001004487 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) TCAGCAGCACGCAGAGCCGGT 0.627 NA 7 34 0 0 0.001984 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746696 37746696 + Missense_Mutation SNP G G A TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:37746696G>A uc004aag.1 + 16 4711 c.4667G>A c.(4666-4668)CGT>CAT p.R1556H FRMPD1_uc004aah.1_Missense_Mutation_p.R1556H NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1556 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CTCCTGGCCCGTCAGTGCACG 0.592 NA 24 75 0 0 0.004656 0 0 FRMD3 257019 broad.mit.edu 37 9 86153022 86153022 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:86153022G>C uc004ams.1 - 1 327 c.125C>G c.(124-126)TCG>TGG p.S42W FRMD3_uc004amr.1_Missense_Mutation_p.S28W NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 42 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 GGAGATCTCCGAGTCGTCCAG 0.652 NA 4 3 0 0 0.000248 0 0 ENG 2022 broad.mit.edu 37 9 130581094 130581094 + Silent SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:130581094G>C uc004bsj.3 - 11 1742 c.1329C>G c.(1327-1329)CTC>CTG p.L443L ENG_uc011mam.1_Silent_p.L254L|ENG_uc004bsk.3_Silent_p.L443L|uc004bsl.1_Intron NM_001114753 NP_001108225 P17813 EGLN_HUMAN endoglin isoform 1 precursor 443 Ser/Thr-rich.|Extracellular (Potential). artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding 0 TGTCCATGTTGAGGCAGTGCA 0.627 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 34 155 0 0 0.004878 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139302345 139302345 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:139302345C>G uc004chi.2 - 4 540 c.335G>C c.(334-336)AGA>ACA p.R112T SDCCAG3_uc004chj.2_Missense_Mutation_p.R89T|SDCCAG3_uc004chk.2_Missense_Mutation_p.R39T|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc004chl.2_5'Flank|PMPCA_uc010nbl.2_5'Flank|PMPCA_uc011mdz.1_5'Flank NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 112 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CAGAAACTCTCTAAAAGAGAA 0.448 NA 12 99 0 0 0.003163 0 0 KIAA1984 84960 broad.mit.edu 37 9 139697160 139697160 + Silent SNP C C T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr9:139697160C>T uc004cjf.2 + 6 636 c.588C>T c.(586-588)CTC>CTT p.L196L NM_001039374 NP_001034463 Q5T5S1 K1984_HUMAN hypothetical protein LOC84960 196 Potential. ovary(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) TGCAGAACCTCGTGGTCAACT 0.562 NA 28 83 0 0 0.005443 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139010 64139010 + Missense_Mutation SNP G G T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chrX:64139010G>T uc004dvu.2 - 4 561 c.473C>A c.(472-474)GCA>GAA p.A158E ZC4H2_uc004dvv.2_Missense_Mutation_p.A135E|ZC4H2_uc011mov.1_Missense_Mutation_p.A135E|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 158 metal ion binding|protein binding ovary(1) 1 GGCAGCGGCTGCAGCGGCCAG 0.587 NA 21 15 1.22574e-08 2.64831e-08 0.002299 1 0 LPAR4 2846 broad.mit.edu 37 X 78011031 78011031 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chrX:78011031C>G uc010nme.2 + 2 1070 c.665C>G c.(664-666)TCT>TGT p.S222C NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 222 Helical; Name=5; (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 TTGAATGTCTCTTGCTCTTCT 0.373 NA 8 18 0 0 0.00308 0 0 F5 2153 broad.mit.edu 37 1 169529792 169529793 + Frame_Shift_Ins INS - - T TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr1:169529792_169529793insT uc001ggg.1 - 4 730_731 c.585_586insA c.(583-588)AAAGGGfs p.K195fs F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 195_196 F5/8 type A 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTGTTCTTACCTTTTTTACAGA 0.446 NA 11 55 --- --- --- --- NA NA NA NA NA FAM21C 253725 broad.mit.edu 37 10 46250511 46250513 + In_Frame_Del DEL TGA TGA - TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 TGA TGA - - TGA TGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr10:46250511_46250513delTGA uc001jcu.2 + 15 1467_1469 c.1368_1370delTGA c.(1366-1371)GGTGAT>GGT p.D461del FAM21C_uc001jcs.1_In_Frame_Del_p.D406del|FAM21C_uc001jct.2_In_Frame_Del_p.D461del|FAM21C_uc010qfi.1_In_Frame_Del_p.D437del|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'Flank NM_015262 NP_056077 A8K5W5 A8K5W5_HUMAN hypothetical protein LOC253725 461 ovary(1) 1 atgatgatggtgatgatgatgac 0.448 NA 7 22 --- --- --- --- NA NA NA NA NA HSP90AA1 3320 broad.mit.edu 37 14 102552609 102552616 + Frame_Shift_Del DEL GTATTGAT GTATTGAT - TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 GTATTGAT GTATTGAT - - GTATTGAT GTATTGAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr14:102552609_102552616delGTATTGAT uc001yku.3 - 2 290_297 c.100_107delATCAATAC c.(100-108)ATCAATACTfs p.I34fs HSP90AA1_uc001ykv.3_Frame_Shift_Del_p.I156fs|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Frame_Shift_Del_p.I23fs NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 34_36 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) CGAGTAGAAAGTATTGATGATCAATGAC 0.438 NA 8 65 --- --- --- --- NA NA NA NA NA GIPC1 10755 broad.mit.edu 37 19 14589262 14589262 + Frame_Shift_Del DEL C C - TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:14589262delC uc002myt.2 - 9 1238 c.968delG c.(967-969)GGCfs p.G323fs GIPC1_uc002myu.2_Frame_Shift_Del_p.G323fs|GIPC1_uc002myv.2_Frame_Shift_Del_p.G226fs|GIPC1_uc002myw.2_Frame_Shift_Del_p.G226fs|GIPC1_uc002myx.2_Frame_Shift_Del_p.G323fs|GIPC1_uc002myy.2_Frame_Shift_Del_p.G226fs NM_005716 NP_005707 O14908 GIPC1_HUMAN regulator of G-protein signalling 19 interacting 323 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding 0 CCCAATGGCGCCCCAGACGTC 0.657 Pancreas(33;78 923 2910 41023 52850) NA 3 6 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 19 34583921 34583921 + Frame_Shift_Del DEL G G - TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr19:34583921delG uc002nuz.2 - 1 293 c.241delC c.(241-243)CGTfs p.R81fs full-length cDNA clone CS0DE007YF24 of Placenta of Homo sapiens (human). NA TAGATCAGACGGAAACCCTCT 0.428 NA 5 8 --- --- --- --- NA NA NA NA NA FIGN 55137 broad.mit.edu 37 2 164467519 164467519 + Frame_Shift_Del DEL G G - TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr2:164467519delG uc002uck.1 - 3 1134 c.823delC c.(823-825)CTGfs p.L275fs NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 275 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CCTGAAGGCAGGTACGCTGAA 0.617 NA 12 42 --- --- --- --- NA NA NA NA NA ABHD5 51099 broad.mit.edu 37 3 43732525 43732526 + Frame_Shift_Del DEL GA GA - rs138695912 TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09bc8542-4ea1-4599-91b3-d606425b37e2 087d5121-0e86-4be5-9e53-11efd5184752 g.chr3:43732525_43732526delGA uc003cmx.2 + 1 151_152 c.41_42delGA c.(40-42)GGAfs p.G14fs NM_016006 NP_057090 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 14 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity ovary(1) 1 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) GCCGACACCGGAGAGAGGTAAG 0.733 NA 8 25 --- --- --- --- NA NA NA NA NA