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 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 isArtifactMode oxoGCut KIF1B 23095 broad.mit.edu 37 1 10386207 10386207 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:10386207C>T uc001aqx.3 + 27 2916 c.2714C>T c.(2713-2715)GCC>GTC p.A905V KIF1B_uc001aqw.3_Missense_Mutation_p.A859V|KIF1B_uc001aqy.2_Missense_Mutation_p.A879V|KIF1B_uc001aqz.2_Missense_Mutation_p.A905V|KIF1B_uc001ara.2_Missense_Mutation_p.A865V|KIF1B_uc001arb.2_Missense_Mutation_p.A891V NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 905 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GAGCGCCTTGCCGACCGCACA 0.542 NA 5 244 0 0 0 0 CELA3B 23436 broad.mit.edu 37 1 22304901 22304901 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:22304901G>T uc001bfk.2 + 2 198 c.83G>T c.(82-84)CGC>CTC p.R28L CELA3B_uc009vqf.2_Missense_Mutation_p.R27L NM_007352 NP_031378 P08861 CEL3B_HUMAN elastase 3B, pancreatic preproprotein 28 cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 CCTTCCAGCCGCGTTGTCAAT 0.582 NA 42 23 6.27e-28 8.63e-28 1 0 CELA3B 23436 broad.mit.edu 37 1 22307604 22307604 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:22307604C>A uc001bfk.2 + 4 416 c.301C>A c.(301-303)CCC>ACC p.P101T CELA3B_uc009vqf.2_Intron NM_007352 NP_031378 P08861 CEL3B_HUMAN elastase 3B, pancreatic preproprotein 101 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 GCAGGTGATCCCCATCAACTC 0.632 NA OREG0013210 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 28 2.17e-29 3e-29 1 0 KIAA1522 57648 broad.mit.edu 37 1 33237516 33237516 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:33237516G>A uc001bvv.2 + 6 2695 c.2559G>A c.(2557-2559)CTG>CTA p.L853L KIAA1522_uc001bvu.1_Silent_p.L912L|KIAA1522_uc010ohm.1_Silent_p.L864L|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 853 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGAAACCACTGCGAAGGGCCC 0.716 NA 12 17 0 0 0 0 ZMYM1 79830 broad.mit.edu 37 1 35578906 35578906 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:35578906G>A uc001bym.2 + 11 1623 c.1475G>A c.(1474-1476)AGA>AAA p.R492K ZMYM1_uc001byn.2_Missense_Mutation_p.R492K|ZMYM1_uc010ohu.1_Missense_Mutation_p.R473K|ZMYM1_uc001byo.2_Missense_Mutation_p.R132K|ZMYM1_uc009vut.2_Missense_Mutation_p.R417K NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 492 TTF-type. nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCTGTGGAAGAGAGTCATTT 0.348 NA 57 107 0 0 0 0 ERMAP 114625 broad.mit.edu 37 1 43308691 43308691 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:43308691A>G uc001cic.1 + 12 1486 c.1216A>G c.(1216-1218)ACA>GCA p.T406A ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.T406A|ERMAP_uc001cif.1_Missense_Mutation_p.T316A NM_001017922 NP_001017922 Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein 406 Cytoplasmic (Potential).|B30.2/SPRY. Missing (in Sc-3 allele). integral to membrane|plasma membrane ovary(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGAAAAAACACAGCACCTCT 0.463 NA 62 115 0 0 0 0 HECTD3 79654 broad.mit.edu 37 1 45472642 45472642 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:45472642T>A uc009vxk.2 - 12 1700 c.1602A>T c.(1600-1602)GCA>GCT p.A534A HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Silent_p.A144A|HECTD3_uc010olh.1_Silent_p.A250A NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 534 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) TGATGCCTTCTGCAATAAATT 0.507 NA 34 53 0 0 0 0 CYP4A11 1579 broad.mit.edu 37 1 47407066 47407066 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:47407066C>A uc001cqp.3 - 1 91 c.40G>T c.(40-42)GAT>TAT p.D14Y CYP4A11_uc001cqq.2_Missense_Mutation_p.D14Y|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 14 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) CCAGAGACATCACCCAGGAGT 0.597 NA 68 123 2.43e-22 3.2e-22 1 0 CYP4A22 284541 broad.mit.edu 37 1 47609432 47609432 + Splice_Site SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:47609432A>C uc001cqv.1 + 6 687 c.636_splice c.e6-2 p.R212_splice CYP4A22_uc009vyo.2_Splice_Site_p.R212_splice|CYP4A22_uc009vyp.2_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 ACTCTCCCTCAGGAATTCTCA 0.512 NA 52 73 0 0 0 0 ELAVL4 1996 broad.mit.edu 37 1 50659494 50659494 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:50659494G>A uc001csb.2 + 4 680 c.412G>A c.(412-414)GGC>AGC p.G138S ELAVL4_uc001cry.3_Missense_Mutation_p.G141S|ELAVL4_uc001crz.3_Missense_Mutation_p.G138S|ELAVL4_uc001csa.3_Missense_Mutation_p.G155S|ELAVL4_uc001csc.3_Missense_Mutation_p.G138S|ELAVL4_uc009vyu.2_Missense_Mutation_p.G143S|ELAVL4_uc010omz.1_Missense_Mutation_p.G143S NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 138 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 CTATGTTAGCGGCCTTCCCAA 0.488 NA 105 140 0 0 0 0 C8B 732 broad.mit.edu 37 1 57425761 57425761 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:57425761T>A uc001cyp.2 - 2 248 c.181A>T c.(181-183)ATG>TTG p.M61L C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_Missense_Mutation_p.M9L NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 61 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 TCAATGGGCATCAGGGTAACA 0.488 NA 58 83 0 0 0 0 PGM1 5236 broad.mit.edu 37 1 64117492 64117492 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:64117492A>T uc001dbh.2 + 9 1646 c.1433A>T c.(1432-1434)GAC>GTC p.D478V PGM1_uc010ooy.1_Missense_Mutation_p.D281V|PGM1_uc010ooz.1_Missense_Mutation_p.D496V NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 478 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 GAATACAGCGACCCAGTGGAT 0.463 NA 21 53 0 0 0 0 SGIP1 84251 broad.mit.edu 37 1 67155877 67155877 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:67155877G>T uc001dcr.2 + 17 1665 c.1448G>T c.(1447-1449)AGA>ATA p.R483I SGIP1_uc010opd.1_Missense_Mutation_p.R83I|SGIP1_uc001dcs.2_Missense_Mutation_p.R83I|SGIP1_uc001dct.2_Missense_Mutation_p.R83I|SGIP1_uc009wat.2_Missense_Mutation_p.R277I NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 483 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 TTACAGTCCAGACCTTTTAGC 0.443 NA 87 167 1.29e-55 1.95e-55 1 0 C1orf173 127254 broad.mit.edu 37 1 75037355 75037355 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:75037355C>A uc001dgg.2 - 14 4258 c.4039G>T c.(4039-4041)GGT>TGT p.G1347C NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1347 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GCCGTTTCACCACCTCCGTGT 0.537 NA 44 66 2.14e-21 2.78e-21 1 0 LPHN2 23266 broad.mit.edu 37 1 82409022 82409022 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:82409022A>G uc001dit.3 + 6 948 c.767A>G c.(766-768)TAC>TGC p.Y256C LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.Y256C|LPHN2_uc001div.2_Missense_Mutation_p.Y256C|LPHN2_uc009wcd.2_Missense_Mutation_p.Y256C NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 256 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACCTCACCATACAGATGGGGA 0.393 NA 60 88 0 0 0 0 LPHN2 23266 broad.mit.edu 37 1 82445578 82445578 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:82445578C>A uc001dit.3 + 17 3177 c.2996C>A c.(2995-2997)ACA>AAA p.T999K LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.T999K|LPHN2_uc001div.2_Missense_Mutation_p.T999K|LPHN2_uc009wcd.2_Missense_Mutation_p.T999K|LPHN2_uc001diw.2_Missense_Mutation_p.T583K|LPHN2_uc009wce.1_Missense_Mutation_p.T85K NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1012 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTGGTGATCACATTGTGCAAA 0.299 NA 31 62 2.05e-20 2.64e-20 1 0 LPPR5 163404 broad.mit.edu 37 1 99387542 99387542 + Missense_Mutation SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:99387542A>C uc001dsb.2 - 4 916 c.694T>G c.(694-696)TGT>GGT p.C232G LPPR5_uc001dsc.2_Missense_Mutation_p.C232G NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 232 Helical; (Potential). integral to membrane hydrolase activity 0 AATGCCAAACACATTAAGCCC 0.378 NA 67 77 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103496734 103496734 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:103496734T>C uc001dul.2 - 5 1036 c.718A>G c.(718-720)AGT>GGT p.S240G COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.S240G|COL11A1_uc001dun.2_Missense_Mutation_p.S240G|COL11A1_uc009weh.2_Missense_Mutation_p.S240G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 240 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGTCTGGACTATAATGCTCA 0.448 NA 22 38 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103496752 103496752 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:103496752C>T uc001dul.2 - 5 1018 c.700G>A c.(700-702)GAC>AAC p.D234N COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D234N|COL11A1_uc001dun.2_Missense_Mutation_p.D234N|COL11A1_uc009weh.2_Missense_Mutation_p.D234N NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 234 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCACAGTAGTCATATGCTGCC 0.443 NA 21 41 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103548502 103548502 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:103548502G>A uc001dul.2 - 2 451 c.133C>T c.(133-135)CTA>TTA p.L45L COL11A1_uc001dum.2_Silent_p.L45L|COL11A1_uc001dun.2_Silent_p.L45L|COL11A1_uc009weh.2_Silent_p.L45L NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 45 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGAAAATCTAGTGCTTTTAGT 0.333 NA 51 87 0 0 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110032945 110032945 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:110032945G>A uc001dxr.2 + 9 1304 c.1289G>A c.(1288-1290)CGC>CAC p.R430H ATXN7L2_uc001dxs.2_Missense_Mutation_p.R57H|ATXN7L2_uc001dxt.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 430 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GTGTTTAGCCGCCGGCTGGAC 0.577 NA OREG0013635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 72 0 0 0 0 LRIG2 9860 broad.mit.edu 37 1 113652911 113652911 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:113652911G>T uc001edf.1 + 13 1723 c.1525G>T c.(1525-1527)GCT>TCT p.A509S LRIG2_uc009wgn.1_Missense_Mutation_p.A406S NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 509 Ig-like C2-type 1.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) AACCATAATTGCTCTAAGAGG 0.428 NA 63 110 3.13e-38 4.52e-38 1 0 AMPD1 270 broad.mit.edu 37 1 115231345 115231345 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:115231345G>T uc001efe.1 - 3 136 c.52C>A c.(52-54)CGC>AGC p.R18S AMPD1_uc001eff.1_Missense_Mutation_p.R14S NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 18 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GCAAAGTTGCGCATTGCATCA 0.423 NA 68 138 4.66e-34 6.62e-34 1 0 FLG 2312 broad.mit.edu 37 1 152280766 152280766 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:152280766G>T uc001ezu.1 - 3 6632 c.6596C>A c.(6595-6597)TCA>TAA p.S2199* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2199 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCATCTCCTGATTGTTCCTT 0.542 NA Ichthyosis 298 419 1.64e-181 2.53e-181 1 0 OR10K2 391107 broad.mit.edu 37 1 158389859 158389859 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:158389859G>A uc010pii.1 - 1 798 c.798C>T c.(796-798)TAC>TAT p.Y266Y NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GGCTTGAGGAGTAGTTGGACT 0.398 NA 133 20 0 0 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018684 161018684 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:161018684A>G uc001fxl.2 - 12 2473 c.2127T>C c.(2125-2127)AGT>AGC p.S709S USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Silent_p.S555S|ARHGAP30_uc009wtx.2_Silent_p.S382S NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 709 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TCTCTTCCCTACTCCCTTCTC 0.527 NA 263 354 0 0 0 0 GPA33 10223 broad.mit.edu 37 1 167024302 167024302 + Silent SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:167024302A>T uc001gea.1 - 6 1082 c.738T>A c.(736-738)GTT>GTA p.V246V NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 246 Helical; (Potential). integral to plasma membrane receptor activity 0 TGAGGGCTGCAACCACGCCCA 0.577 NA 91 16 0 0 0 0 CD247 919 broad.mit.edu 37 1 167408592 167408592 + Nonsense_Mutation SNP G G A rs74315290 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:167408592G>A uc001gei.3 - 3 353 c.208C>T c.(208-210)CAG>TAG p.Q70* CD247_uc001gej.3_Nonsense_Mutation_p.Q70*|CD247_uc001gek.2_Nonsense_Mutation_p.Q70* NM_198053 NP_932170 P20963 CD3Z_HUMAN T-cell receptor zeta chain isoform 1 precursor 70 Cytoplasmic (Potential).|ITAM 1. interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity 0 LUSC - Lung squamous cell carcinoma(543;0.236) TTATAGAGCTGGTTCTGGCCC 0.592 NA 60 120 0 0 0 0 SELP 6403 broad.mit.edu 37 1 169580850 169580850 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:169580850C>G uc001ggi.3 - 7 1092 c.1027G>C c.(1027-1029)GCT>CCT p.A343P SELP_uc001ggh.2_Missense_Mutation_p.A178P|SELP_uc009wvr.2_Missense_Mutation_p.A343P NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 343 Sushi 3.|Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TAGGCAAAAGCAGTGAGCGGA 0.532 NA 130 21 0 0 0 0 KCNT2 343450 broad.mit.edu 37 1 196285139 196285139 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:196285139C>G uc001gtd.1 - 21 2426 c.2366G>C c.(2365-2367)AGG>ACG p.R789T KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R715T|KCNT2_uc001gtf.1_Missense_Mutation_p.R765T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.R765T|KCNT2_uc001gth.1_Missense_Mutation_p.R286T NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 789 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CACTCCACACCTGAGTAAGTC 0.393 NA 29 7 0 0 0 0 F13B 2165 broad.mit.edu 37 1 197031010 197031010 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:197031010C>A uc001gtt.1 - 3 399 c.355G>T c.(355-357)GCT>TCT p.A119S NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 119 Sushi 2. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TACCCTGAAGCGCAACCATAA 0.403 NA 46 18 4.44e-20 5.7e-20 1 0 CR1L 1379 broad.mit.edu 37 1 207871016 207871016 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:207871016G>C uc001hga.3 + 6 1152 c.1031G>C c.(1030-1032)AGA>ACA p.R344T CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 344 Sushi 5. cytoplasm|extracellular region|membrane 0 GCAGCCCCCAGATGTGAAGGT 0.493 NA 286 64 0 0 0 0 CENPF 1063 broad.mit.edu 37 1 214819347 214819347 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:214819347G>A uc001hkm.2 + 13 6608 c.6434G>A c.(6433-6435)CGC>CAC p.R2145H NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2241 Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CTGAAAGAACGCGAGCGGGAG 0.468 NA 94 13 0 0 0 0 ESRRG 2104 broad.mit.edu 37 1 216850746 216850746 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:216850746G>A uc001hkw.1 - 2 310 c.144C>T c.(142-144)TCC>TCT p.S48S ESRRG_uc001hky.1_Silent_p.S25S|ESRRG_uc009xdp.1_Silent_p.S25S|ESRRG_uc001hkz.1_Silent_p.S25S|ESRRG_uc010puc.1_Silent_p.S25S|ESRRG_uc001hla.1_Silent_p.S25S|ESRRG_uc001hlb.1_Silent_p.S25S|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.S25S|ESRRG_uc001hld.1_Silent_p.S25S|ESRRG_uc001hkx.1_Silent_p.S53S|ESRRG_uc009xdo.1_Silent_p.S25S|ESRRG_uc001hle.1_Silent_p.S25S NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 48 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TGTCCGTCAGGGAGGCTGGGC 0.532 NA 81 21 0 0 0 0 C1orf65 164127 broad.mit.edu 37 1 223568029 223568029 + Silent SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:223568029C>G uc001hoa.2 + 1 1315 c.1212C>G c.(1210-1212)GCC>GCG p.A404A NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 404 central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) TGGTGGAAGCCTGTCGCAAGA 0.622 NA 43 6 0 0 0 0 PARP1 142 broad.mit.edu 37 1 226549218 226549218 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:226549218C>T uc001hqd.3 - 23 3159 c.2988G>A c.(2986-2988)CAG>CAA p.Q996Q NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 996 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TCAGATTTACCTGAGCAATAT 0.473 NA Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 50 6 0 0 0 0 COG2 22796 broad.mit.edu 37 1 230827172 230827172 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:230827172G>A uc001htw.2 + 17 2128 c.1977G>A c.(1975-1977)AAG>AAA p.K659K COG2_uc001htx.2_Silent_p.K658K|COG2_uc010pwc.1_Silent_p.K532K NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 659 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CTGTGAAGAAGATGGAAGAGA 0.463 NA 62 7 0 0 0 0 ARID4B 51742 broad.mit.edu 37 1 235345469 235345469 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:235345469T>G uc001hwq.2 - 20 3263 c.2765A>C c.(2764-2766)AAA>ACA p.K922T ARID4B_uc001hwr.2_Missense_Mutation_p.K836T|ARID4B_uc001hws.3_Missense_Mutation_p.K836T|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.K603T NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 922 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TTTTCGATCTTTGGCCCTGCT 0.408 NA 191 31 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237670115 237670115 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:237670115G>T uc001hyl.1 + 23 2838 c.2718_splice c.e23+1 p.P906_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTATGGTCCGGTATGTAATTT 0.368 NA 15 22 2.62e-11 3.12e-11 1 0 RYR2 6262 broad.mit.edu 37 1 237711878 237711879 + Nonsense_Mutation DNP TG TG AT rs113422365 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:237711878_237711879TG>AT uc001hyl.1 + 26 3174_3175 c.3054_3055TG>AT c.(3052-3057)TATGGC>TAATGC p.1018_1019YG>*C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1018_1019 Cytoplasmic (By similarity).|2.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTGGACTTATGGCATCCAACA 0.426 NA 42 11 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237778123 237778123 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:237778123C>T uc001hyl.1 + 37 5815 c.5695C>T c.(5695-5697)CCA>TCA p.P1899S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1899 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATGAAACTGCCAGAGCCAGT 0.468 NA 63 9 0 0 0 0 OPN3 23596 broad.mit.edu 37 1 241761198 241761198 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:241761198C>T uc001hza.2 - 3 940 c.795G>A c.(793-795)CTG>CTA p.L265L OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA NM_014322 NP_055137 Q9H1Y3 OPN3_HUMAN opsin 3 265 Helical; Name=6; (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity 0 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TCCAACAGACCAGGAAGGTGA 0.378 NA 101 23 0 0 0 0 OR2T12 127064 broad.mit.edu 37 1 248458280 248458280 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:248458280A>T uc010pzj.1 - 1 601 c.601T>A c.(601-603)TGT>AGT p.C201S NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTAACACACAGCAGATGTAC 0.542 NA 107 24 0 0 0 0 OR2G6 391211 broad.mit.edu 37 1 248685252 248685252 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:248685252A>T uc001ien.1 + 1 305 c.305A>T c.(304-306)TAT>TTT p.Y102F NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 102 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCCAGCTCTATGTGGCCATG 0.537 NA 127 19 0 0 0 0 OR14I1 401994 broad.mit.edu 37 1 248845040 248845040 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:248845040T>A uc001ieu.1 - 1 566 c.566A>T c.(565-567)GAG>GTG p.E189V NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAAGAAAACCTCACAGGAAAC 0.483 NA 60 14 0 0 0 0 GTPBP4 23560 broad.mit.edu 37 10 1034450 1034450 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:1034450G>T uc001ift.2 + 1 102 c.31G>T c.(31-33)GTG>TTG p.V11L GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_5'UTR|GTPBP4_uc010qae.1_5'Flank NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 11 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GAAAATTACGGTGGTGCCGTC 0.657 NA 20 5 6.45e-10 7.53e-10 1 0 CUBN 8029 broad.mit.edu 37 10 17083215 17083215 + Missense_Mutation SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:17083215A>C uc001ioo.2 - 27 3886 c.3834T>G c.(3832-3834)TGT>TGG p.C1278W NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1278 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCACATTCTCACATGCTGGAA 0.338 NA 65 19 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 17142060 17142060 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:17142060G>A uc001ioo.2 - 14 1761 c.1709C>T c.(1708-1710)TCT>TTT p.S570F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 570 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TAAATGTTCAGAATAGAGATG 0.418 NA 105 36 0 0 0 0 GAD2 2572 broad.mit.edu 37 10 26512888 26512888 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:26512888C>A uc001isp.2 + 5 1096 c.593C>A c.(592-594)TCA>TAA p.S198* GAD2_uc001isq.2_Nonsense_Mutation_p.S198* NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 198 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TGGCTGACATCAACAGCAAAT 0.343 NA 40 13 6.97e-18 8.8e-18 1 0 RBP3 5949 broad.mit.edu 37 10 48388397 48388397 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:48388397G>T uc001jez.2 - 1 2595 c.2481C>A c.(2479-2481)CCC>CCA p.P827P NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 827 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CGGCGACCTGGGGCAAGGTCC 0.612 NA 14 8 7.93e-07 8.83e-07 1 0 C10orf71 118461 broad.mit.edu 37 10 50532657 50532657 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:50532657G>A uc010qgp.1 + 3 2406 c.2067G>A c.(2065-2067)CAG>CAA p.Q689Q NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 689 0 CAGGACTTCAGAACACACATT 0.502 NA 25 11 0 0 0 0 A1CF 29974 broad.mit.edu 37 10 52573752 52573752 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:52573752G>T uc001jjj.2 - 10 1400 c.1212C>A c.(1210-1212)TAC>TAA p.Y404* A1CF_uc010qhn.1_Nonsense_Mutation_p.Y404*|A1CF_uc001jji.2_Nonsense_Mutation_p.Y396*|A1CF_uc001jjh.2_Nonsense_Mutation_p.Y404*|A1CF_uc010qho.1_Nonsense_Mutation_p.Y412*|A1CF_uc009xov.2_Nonsense_Mutation_p.Y396* NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 404 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 CCAGGCCTGTGTATGCCAAAT 0.483 NA 94 30 2.09e-44 3.08e-44 1 0 PCDH15 65217 broad.mit.edu 37 10 55600188 55600188 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:55600188C>A uc001jju.1 - 29 4270 c.3875G>T c.(3874-3876)CGC>CTC p.R1292L PCDH15_uc010qhq.1_Missense_Mutation_p.R1297L|PCDH15_uc010qhr.1_Missense_Mutation_p.R1292L|PCDH15_uc010qhs.1_Missense_Mutation_p.R1304L|PCDH15_uc010qht.1_Missense_Mutation_p.R1299L|PCDH15_uc010qhu.1_Missense_Mutation_p.R1292L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1292L|PCDH15_uc010qhw.1_Missense_Mutation_p.R1255L|PCDH15_uc010qhx.1_Missense_Mutation_p.R1221L|PCDH15_uc010qhy.1_Missense_Mutation_p.R1297L|PCDH15_uc010qhz.1_Missense_Mutation_p.R1292L|PCDH15_uc010qia.1_Missense_Mutation_p.R1270L|PCDH15_uc010qib.1_Missense_Mutation_p.R1270L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1292 Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCCATGCCGGCGAGCTCCAAT 0.448 NA HNSCC(58;0.16) 76 15 5.33e-40 7.76e-40 1 0 CTNNA3 29119 broad.mit.edu 37 10 69281617 69281617 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:69281617C>T uc009xpn.1 - 5 685 c.562G>A c.(562-564)GCC>ACC p.A188T CTNNA3_uc001jmw.2_Missense_Mutation_p.A188T|CTNNA3_uc001jmx.3_Missense_Mutation_p.A188T|CTNNA3_uc009xpo.1_Missense_Mutation_p.A48T|CTNNA3_uc001jna.2_Missense_Mutation_p.A200T NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 188 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CGTTTGAAGGCTAAATAATCC 0.478 NA 43 23 0 0 0 0 CNNM1 26507 broad.mit.edu 37 10 101120594 101120594 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:101120594G>C uc001kpp.3 + 3 2009 c.1720G>C c.(1720-1722)GAC>CAC p.D574H CNNM1_uc009xwe.2_Missense_Mutation_p.D574H|CNNM1_uc010qpi.1_Missense_Mutation_p.D574H|CNNM1_uc009xwf.2_Missense_Mutation_p.D574H|CNNM1_uc009xwg.2_5'UTR NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 574 ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) CCCCACAGCTGACAATCGGAA 0.507 NA 137 58 0 0 0 0 ABCC2 1244 broad.mit.edu 37 10 101591439 101591439 + Silent SNP G G A rs139082536 byFrequency TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:101591439G>A uc001kqf.2 + 22 3094 c.2955G>A c.(2953-2955)GCG>GCA p.A985A NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 985 ABC transmembrane type-1 2.|Helical; Name=12; (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCATCCTTGCGTTTGTGATGA 0.433 NA 6 181 0 0 0 0 MGEA5 10724 broad.mit.edu 37 10 103558944 103558944 + Silent SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:103558944A>C uc001ktv.2 - 9 1907 c.1464T>G c.(1462-1464)GTT>GTG p.V488V MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Silent_p.V435V|MGEA5_uc009xws.2_Silent_p.V435V|MGEA5_uc001ktw.2_Silent_p.V488V|MGEA5_uc009xwt.2_Silent_p.V251V NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 488 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TTTTCGCTTCAACAATTTCAC 0.393 NA 204 79 0 0 0 0 NFKB2 4791 broad.mit.edu 37 10 104161253 104161253 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:104161253C>A uc001kvb.2 + 20 2536 c.2271C>A c.(2269-2271)CCC>CCA p.P757P NFKB2_uc001kva.2_Silent_p.P757P|NFKB2_uc001kvd.2_Silent_p.P757P|NFKB2_uc009xxc.2_Silent_p.P757P NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 757 ANK 7. Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308). innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) TGGAGCCACCCCTGACCCCGC 0.597 NA T IGH@ B-NHL 32 21 2.76e-19 3.52e-19 1 0 SORCS1 114815 broad.mit.edu 37 10 108427560 108427560 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:108427560G>T uc001kym.2 - 17 2198 c.2190C>A c.(2188-2190)TGC>TGA p.C730* SORCS1_uc001kyl.2_Nonsense_Mutation_p.C730*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.C730*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.C730*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.C730* NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 730 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AACCATAGTCGCTGTTAGGAA 0.453 NA 21 4 2.32e-17 2.92e-17 1 0 TCF7L2 6934 broad.mit.edu 37 10 114910775 114910775 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:114910775C>T uc001lae.3 + 9 1401 c.894C>T c.(892-894)GTC>GTT p.V298V TCF7L2_uc001lac.3_Silent_p.V275V|TCF7L2_uc010qrk.1_Silent_p.V275V|TCF7L2_uc010qrl.1_Silent_p.V275V|TCF7L2_uc010qrm.1_Silent_p.V298V|TCF7L2_uc010qrn.1_Silent_p.V241V|TCF7L2_uc001lad.3_Silent_p.V271V|TCF7L2_uc001lag.3_Silent_p.V322V|TCF7L2_uc001laf.3_Silent_p.V275V|TCF7L2_uc010qro.1_Silent_p.V275V|TCF7L2_uc001lah.2_Silent_p.V280V|TCF7L2_uc010qrp.1_Silent_p.V275V|TCF7L2_uc010qrq.1_Silent_p.V271V|TCF7L2_uc010qrr.1_Silent_p.V213V|TCF7L2_uc010qrs.1_Silent_p.V169V|TCF7L2_uc010qrt.1_Silent_p.V169V|TCF7L2_uc010qru.1_Silent_p.V197V|TCF7L2_uc010qrv.1_Silent_p.V115V|TCF7L2_uc010qrw.1_Silent_p.V2V|TCF7L2_uc010qrx.1_Silent_p.V155V NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 298 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CCCATATGGTCCCACCACATC 0.473 NA 59 19 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 117045743 117045743 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:117045743G>T uc001lcg.2 + 15 2637 c.2251G>T c.(2251-2253)GGA>TGA p.G751* NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 751 PSI 3.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTGTGGAGAAGGATGGAGTCA 0.313 NA 35 14 1.16e-17 1.45e-17 1 0 FAM196A 642938 broad.mit.edu 37 10 128974408 128974408 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:128974408G>T uc001lju.1 - 1 293 c.252C>A c.(250-252)TAC>TAA p.Y84* DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.Y84*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.Y84*|FAM196A_uc009yap.1_Nonsense_Mutation_p.Y84* NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 84 ovary(2) 2 TGTATTTGCGGTAGGCTGCTC 0.607 NA 68 22 1.56e-33 2.21e-33 1 0 FRG2B 441581 broad.mit.edu 37 10 135438990 135438990 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:135438990C>T uc010qvg.1 - 4 503 c.450G>A c.(448-450)AGG>AGA p.R150R NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 150 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CAGTGCAAGCCCTGGAACGTC 0.527 NA 11 178 0 0 0 0 OR51F1 256892 broad.mit.edu 37 11 4790409 4790409 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:4790409C>A uc010qyl.1 - 1 739 c.739G>T c.(739-741)GTG>TTG p.V247L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 247 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) ACTGCTCCCACATGGGAGACA 0.488 NA 49 23 4.11e-27 5.62e-27 1 0 OR52B6 340980 broad.mit.edu 37 11 5602862 5602862 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:5602862C>A uc010qzi.1 + 1 756 c.756C>A c.(754-756)GCC>GCA p.A252A HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 252 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCAAGATGCCCGCTCCAAGG 0.507 NA 146 50 2.73e-46 4.05e-46 1 0 DNHD1 144132 broad.mit.edu 37 11 6592373 6592373 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:6592373G>A uc001mdw.3 + 42 14195 c.13631G>A c.(13630-13632)GGT>GAT p.G4544D DNHD1_uc001mea.3_Missense_Mutation_p.G813D|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.G812D|DNHD1_uc010rao.1_Missense_Mutation_p.G802D|DNHD1_uc009yfg.2_Missense_Mutation_p.G169D NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4544 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCGCCGGCCGGTCCGCAGCCG 0.706 NA 12 3 0 0 0 0 NLRP10 338322 broad.mit.edu 37 11 7982797 7982797 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:7982797T>C uc001mfv.1 - 2 379 c.362A>G c.(361-363)TAC>TGC p.Y121C NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 121 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CACCTGGTTGTATCTGCCATT 0.557 NA 50 31 0 0 0 0 FAR1 84188 broad.mit.edu 37 11 13716315 13716315 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:13716315G>A uc001mld.2 + 2 158 c.3G>A c.(1-3)ATG>ATA p.M1I FAR1_uc009ygp.2_Missense_Mutation_p.M1I NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 1 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 GGATCAAAATGGTTTCAATCC 0.373 NA 42 21 0 0 0 0 ABTB2 25841 broad.mit.edu 37 11 34219030 34219030 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:34219030C>T uc001mvl.1 - 3 758 c.528G>A c.(526-528)CCG>CCA p.P176P NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 176 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GGCTGGCACCCGGGCACAGGG 0.672 NA 23 11 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136241 40136241 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:40136241C>A uc001mxa.1 - 2 3566 c.1602G>T c.(1600-1602)GTG>GTT p.V534V LRRC4C_uc001mxc.1_Silent_p.V530V|LRRC4C_uc001mxd.1_Silent_p.V530V|LRRC4C_uc001mxb.1_Silent_p.V530V NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 534 Helical; (Potential). regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GTGTGATGGCCACAAAACACC 0.463 NA 61 16 1.75e-23 2.33e-23 1 0 PHF21A 51317 broad.mit.edu 37 11 45970965 45970965 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:45970965G>A uc001ncc.3 - 12 1836 c.1212C>T c.(1210-1212)GTC>GTT p.V404V PHF21A_uc001ncb.3_Silent_p.V405V|PHF21A_uc009ykx.2_Silent_p.V405V|PHF21A_uc001nce.2_Silent_p.V405V|PHF21A_uc001nca.1_Silent_p.V140V NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 404 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 CTGGCTCAAAGACTGCTCCAC 0.458 NA 103 540 0 0 0 0 OR4C3 256144 broad.mit.edu 37 11 48347133 48347133 + Missense_Mutation SNP G G T rs139158085 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:48347133G>T uc010rhv.1 + 1 641 c.641G>T c.(640-642)TGC>TTC p.C214F NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAAGTTGCCTGCACCAATACG 0.502 NA 60 91 2.45e-32 3.44e-32 1 0 FOLH1 2346 broad.mit.edu 37 11 49197499 49197499 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:49197499C>A uc001ngy.2 - 8 1192 c.931G>T c.(931-933)GGC>TGC p.G311C FOLH1_uc001ngz.2_Missense_Mutation_p.G311C|FOLH1_uc009yly.2_Missense_Mutation_p.G296C|FOLH1_uc009ylz.2_Missense_Mutation_p.G296C|FOLH1_uc009yma.2_Missense_Mutation_p.G3C NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 311 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) GGTGCTGAGCCACCCATTTTT 0.393 NA 62 88 8.53e-23 1.13e-22 1 0 FOLH1 2346 broad.mit.edu 37 11 49207359 49207359 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:49207359C>G uc001ngy.2 - 6 949 c.688G>C c.(688-690)GAC>CAC p.D230H FOLH1_uc001ngz.2_Missense_Mutation_p.D230H|FOLH1_uc009yly.2_Missense_Mutation_p.D215H|FOLH1_uc009ylz.2_Missense_Mutation_p.D215H|FOLH1_uc009yma.2_Intron NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 230 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCAGCAGGGTCGGAGTAGAGA 0.458 NA 28 53 0 0 0 0 OR8K5 219453 broad.mit.edu 37 11 55927730 55927730 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:55927730C>T uc010rja.1 - 1 64 c.64G>A c.(64-66)GAG>AAG p.E22K NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATCTGCAGCTCAGGCCGCCTT 0.453 NA 75 120 0 0 0 0 OR5J2 282775 broad.mit.edu 37 11 55944604 55944604 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:55944604C>T uc010rjb.1 + 1 511 c.511C>T c.(511-513)CTA>TTA p.L171L NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) CTTTTGTAGGCTAAATGCTGT 0.438 NA 73 114 0 0 0 0 OR5M8 219484 broad.mit.edu 37 11 56258412 56258412 + Silent SNP C C A rs147351186 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:56258412C>A uc001nix.1 - 1 435 c.435G>T c.(433-435)ACG>ACT p.T145T NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) CATAAGGCACCGTGATGAGGA 0.517 NA 43 83 6.53e-18 8.25e-18 1 0 OR5M10 390167 broad.mit.edu 37 11 56344286 56344286 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:56344286C>T uc001niz.1 - 1 912 c.912G>A c.(910-912)ATG>ATA p.M304I NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCCCCTAATCATTTGTTGTA 0.373 NA 159 217 0 0 0 0 PRG2 5553 broad.mit.edu 37 11 57156719 57156719 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:57156719G>T uc001njz.2 - 2 157 c.130C>A c.(130-132)CAG>AAG p.Q44K PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.Q44K|PRG2_uc001nkb.2_Missense_Mutation_p.Q44K|PRG2_uc001nkd.2_Missense_Mutation_p.Q44K|PRG2_uc001nkc.2_Missense_Mutation_p.Q44K|PRG2_uc001nke.2_Missense_Mutation_p.Q324K NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 44 defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) TCCATCTCCTGCTCTGGTGTC 0.562 NA 74 86 4.61e-44 6.8e-44 1 0 CTNND1 1500 broad.mit.edu 37 11 57569636 57569636 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:57569636C>A uc001nmc.3 + 7 1959 c.1388C>A c.(1387-1389)GCT>GAT p.A463D CTNND1_uc001nlh.1_Missense_Mutation_p.A463D|CTNND1_uc001nlu.3_Missense_Mutation_p.A362D|CTNND1_uc001nlt.3_Missense_Mutation_p.A362D|CTNND1_uc001nls.3_Missense_Mutation_p.A362D|CTNND1_uc001nlw.3_Missense_Mutation_p.A362D|CTNND1_uc001nmf.3_Missense_Mutation_p.A463D|CTNND1_uc001nmd.3_Missense_Mutation_p.A409D|CTNND1_uc001nlk.3_Missense_Mutation_p.A409D|CTNND1_uc001nme.3_Missense_Mutation_p.A463D|CTNND1_uc001nll.3_Missense_Mutation_p.A409D|CTNND1_uc001nmg.3_Missense_Mutation_p.A409D|CTNND1_uc001nlj.3_Missense_Mutation_p.A409D|CTNND1_uc001nlr.3_Missense_Mutation_p.A409D|CTNND1_uc001nlp.3_Missense_Mutation_p.A409D|CTNND1_uc001nlx.3_Missense_Mutation_p.A140D|CTNND1_uc001nlz.3_Missense_Mutation_p.A140D|CTNND1_uc009ymn.2_Missense_Mutation_p.A140D|CTNND1_uc001nlm.3_Missense_Mutation_p.A463D|CTNND1_uc001nly.3_Missense_Mutation_p.A140D|CTNND1_uc001nmb.3_Missense_Mutation_p.A140D|CTNND1_uc001nma.3_Missense_Mutation_p.A140D|CTNND1_uc001nmi.3_Missense_Mutation_p.A362D|CTNND1_uc001nmh.3_Missense_Mutation_p.A463D|CTNND1_uc001nlq.3_Missense_Mutation_p.A362D|CTNND1_uc001nln.3_Missense_Mutation_p.A463D|CTNND1_uc001nli.3_Missense_Mutation_p.A463D|CTNND1_uc001nlo.3_Missense_Mutation_p.A362D|CTNND1_uc001nlv.3_Missense_Mutation_p.A362D NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 463 ARM 3. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) CTTCGAAAGGCTCGTGATATG 0.443 NA 160 294 2.83e-50 4.24e-50 1 0 OR5AN1 390195 broad.mit.edu 37 11 59132216 59132216 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:59132216T>C uc010rks.1 + 1 285 c.285T>C c.(283-285)TTT>TTC p.F95F NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTATCACTTTTGTTGGTTGTA 0.423 NA 158 229 0 0 0 0 OR5A2 219981 broad.mit.edu 37 11 59189575 59189576 + Missense_Mutation DNP GG GG TT rs150394868 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:59189575_59189576GG>TT uc010rkt.1 - 1 851_852 c.851_852CC>AA c.(850-852)CCC>CAA p.P284Q NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GATTCACCACGGGGATCACCAA 0.475 NA 55 66 0 0 0 0 SLC15A3 51296 broad.mit.edu 37 11 60718768 60718768 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:60718768G>A uc001nqn.2 - 1 490 c.256C>T c.(256-258)CTG>TTG p.L86L SLC15A3_uc001nqo.2_Silent_p.L86L NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 86 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 ACGGGCGCCAGCAGGTAGGAG 0.716 NA 4 4 0 0 0 0 SCGB2A1 4246 broad.mit.edu 37 11 61977990 61977990 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:61977990C>T uc001nta.2 + 2 225 c.161C>T c.(160-162)GCC>GTC p.A54V NM_002407 NP_002398 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 precursor 54 extracellular region androgen binding 0 GACAGTGATGCCGCTGCAGAG 0.428 NA 5 250 0 0 0 0 POLR2G 5436 broad.mit.edu 37 11 62533149 62533149 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:62533149G>T uc001nva.2 + 6 534 c.424G>T c.(424-426)GAG>TAG p.E142* POLR2G_uc001nvb.2_RNA NM_002696 NP_002687 P62487 RPB7_HUMAN DNA directed RNA polymerase II polypeptide G 142 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|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-directed RNA polymerase activity|protein binding|RNA binding 0 GCAGGACGATGAGATCCGCTT 0.468 NA 67 100 3.41e-29 4.72e-29 1 0 ATG2A 23130 broad.mit.edu 37 11 64668018 64668018 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:64668018T>C uc001obx.2 - 31 4527 c.4412A>G c.(4411-4413)CAG>CGG p.Q1471R ATG2A_uc001obw.2_Missense_Mutation_p.Q236R NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1471 protein binding ovary(1)|central_nervous_system(1) 2 GCTGCCCCCCTGCGTGCGCCA 0.637 NA 69 102 0 0 0 0 DKFZp761E198 91056 broad.mit.edu 37 11 65546371 65546371 + Silent SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:65546371C>G uc001ofo.3 - 1 1452 c.1422G>C c.(1420-1422)CCG>CCC p.P474P NM_138368 NP_612377 Q2VPB7 YK046_HUMAN hypothetical protein LOC91056 474 protein binding 0 READ - Rectum adenocarcinoma(159;0.167) CATCCCTGCCCGGCCTGGACA 0.607 NA 14 14 0 0 0 0 RIN1 9610 broad.mit.edu 37 11 66103108 66103108 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:66103108T>A uc001ohn.1 - 4 555 c.428A>T c.(427-429)CAG>CTG p.Q143L RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.Q38L|RIN1_uc010rpa.1_Missense_Mutation_p.Q38L NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 143 SH2. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 ACAGATGAGCTGGACTAGGTC 0.642 NA 19 20 0 0 0 0 SHANK2 22941 broad.mit.edu 37 11 70333064 70333064 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:70333064C>A uc001oqc.2 - 21 3412 c.3334G>T c.(3334-3336)GTG>TTG p.V1112L SHANK2_uc010rqn.1_Missense_Mutation_p.V524L|SHANK2_uc001opz.2_Missense_Mutation_p.V517L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 733 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCCAGGCCCACATCCTCATCC 0.692 NA 38 846 5.44e-19 6.93e-19 1 0 MAP6 4135 broad.mit.edu 37 11 75319187 75319187 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:75319187G>C uc001owu.2 - 2 1151 c.1086C>G c.(1084-1086)AGC>AGG p.S362R MAP6_uc001owv.2_Missense_Mutation_p.S362R NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 362 Calmodulin-binding (By similarity). Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) CGCTGTAGAGGCTGCGTATTC 0.512 NA 56 25 0 0 0 0 GRM5 2915 broad.mit.edu 37 11 88781022 88781022 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:88781022G>A uc001pcq.2 - 1 219 c.19C>T c.(19-21)CTG>TTG p.L7L GRM5_uc009yvm.2_Silent_p.L7L|GRM5_uc009yvn.1_Silent_p.L7L NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 7 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAGACTGACAGGATCAACAGA 0.473 NA 23 16 0 0 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714792 92714792 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:92714792G>C uc001pdk.1 + 2 506 c.403G>C c.(403-405)GCC>CCC p.A135P NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 135 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CACTGCCATCGCCATTAACCG 0.597 NA 48 11 0 0 0 0 MMP10 4319 broad.mit.edu 37 11 102647451 102647451 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:102647451G>A uc001phg.1 - 5 701 c.679C>T c.(679-681)CAC>TAC p.H227Y NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 227 Zinc 2; catalytic. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TTGGCTGAGTGAAAGAGCCCC 0.463 NA 61 22 0 0 0 0 MMP12 4321 broad.mit.edu 37 11 102742585 102742585 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:102742585T>A uc001phk.2 - 3 493 c.448A>T c.(448-450)AGC>TGC p.S150C NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 150 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TTAATCTTGCTGAATTTCAAG 0.418 NA 30 2 0 0 0 0 ATM 472 broad.mit.edu 37 11 108213984 108213984 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:108213984A>G uc001pkb.1 + 57 8689 c.8304A>G c.(8302-8304)GAA>GAG p.E2768E ATM_uc009yxr.1_Silent_p.E2768E|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.E1420E NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2768 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTGTTCTTGAATGGTGCACAG 0.403 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 158 56 0 0 0 0 NNMT 4837 broad.mit.edu 37 11 114168790 114168790 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:114168790T>A uc001por.1 + 4 536 c.272T>A c.(271-273)CTG>CAG p.L91Q NNMT_uc001pos.1_Missense_Mutation_p.L91Q NM_006169 NP_006160 P40261 NNMT_HUMAN nicotinamide N-methyltransferase 91 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity ovary(1) 1 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) GACCAGAACCTGCAGGAGCTG 0.517 NA 73 24 0 0 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117785164 117785164 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:117785164C>T uc001prs.1 - 4 715 c.622G>A c.(622-624)GCT>ACT p.A208T TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.A208T NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 203 Extracellular (Potential).|SRCR.|LDL-receptor class A. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CAGCGAACAGCGTGCTTGGGA 0.567 NA 205 77 0 0 0 0 BSX 390259 broad.mit.edu 37 11 122850115 122850115 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:122850115C>A uc010rzs.1 - 2 313 c.313G>T c.(313-315)GGG>TGG p.G105W NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 105 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CAGTGCTTCCCCGGCAGCTCC 0.667 NA 31 14 4.03e-09 4.64e-09 1 0 OR8B4 283162 broad.mit.edu 37 11 124294721 124294721 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:124294721C>A uc010sak.1 - 1 47 c.47G>T c.(46-48)GGA>GTA p.G16V NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCTGATAATCCCACAAGGAT 0.473 NA 34 9 6.71e-13 8.13e-13 1 0 KCNJ1 3758 broad.mit.edu 37 11 128709976 128709976 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:128709976C>G uc001qeo.1 - 2 271 c.220G>C c.(220-222)GAC>CAC p.D74H KCNJ1_uc001qep.1_Missense_Mutation_p.D55H|KCNJ1_uc001qeq.1_Missense_Mutation_p.D55H|KCNJ1_uc001qer.1_Missense_Mutation_p.D55H|KCNJ1_uc001qes.1_Missense_Mutation_p.D55H NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 74 Cytoplasmic (By similarity). D -> Y (in BS2). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CACTTGAGGTCAAGTACCGTT 0.433 NA 103 49 0 0 0 0 IGSF9B 22997 broad.mit.edu 37 11 133802070 133802070 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:133802070C>G uc001qgx.3 - 8 1237 c.1006G>C c.(1006-1008)GTG>CTG p.V336L IGSF9B_uc001qgy.1_Missense_Mutation_p.V178L NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 336 Extracellular (Potential).|Ig-like 4. integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCCACGGGCACGTAAATCACA 0.517 NA 8 2 0 0 0 0 ITFG2 55846 broad.mit.edu 37 12 2929961 2929961 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:2929961G>A uc001qlb.1 + 6 682 c.618G>A c.(616-618)GCG>GCA p.A206A ITFG2_uc010seb.1_Silent_p.A29A|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 206 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CAGGTTGTGCGTATGCAATTC 0.562 NA 38 63 0 0 0 0 CDCA3 83461 broad.mit.edu 37 12 6958258 6958258 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:6958258T>C uc001qrg.2 - 6 884 c.756A>G c.(754-756)CAA>CAG p.Q252Q CDCA3_uc001qre.2_Intron|uc001qrf.1_5'Flank NM_031299 NP_112589 Q99618 CDCA3_HUMAN cell division cycle associated 3 252 cell division|mitosis cytosol 0 GGTCCTGGCCTTGCTCCCATG 0.532 NA 50 52 0 0 0 0 CLSTN3 9746 broad.mit.edu 37 12 7294733 7294733 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:7294733A>T uc001qsr.2 + 10 1816 c.1538A>T c.(1537-1539)CAA>CTA p.Q513L CLSTN3_uc001qss.2_Missense_Mutation_p.Q525L NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 513 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 GACACCACCCAAGGTACTCCG 0.458 NA OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 20 0 0 0 0 CLEC6A 93978 broad.mit.edu 37 12 8630046 8630046 + Nonsense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:8630046A>T uc001qum.1 + 6 733 c.616A>T c.(616-618)AAG>TAG p.K206* NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN dectin-2 206 Extracellular (Potential). defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1) 1 Lung SC(5;0.184) TGAGATGAATAAGATTTACCT 0.358 NA 47 77 0 0 0 0 A2M 2 broad.mit.edu 37 12 9262518 9262518 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:9262518C>T uc001qvk.1 - 6 731 c.618G>A c.(616-618)GTG>GTA p.V206V A2M_uc009zgk.1_Silent_p.V56V NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 206 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TCTTCTGTACCACCACCTTGT 0.458 NA 127 186 0 0 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18644453 18644453 + Silent SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:18644453T>G uc001rdt.2 + 19 2747 c.2631T>G c.(2629-2631)CCT>CCG p.P877P PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.P918P|PIK3C2G_uc010sic.1_Silent_p.P696P NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 877 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) GTCATCTTCCTCTGAACCCTG 0.333 NA 57 85 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 21965011 21965011 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:21965011C>A uc001rfi.1 - 34 4203 c.4183G>T c.(4183-4185)GAT>TAT p.D1395Y ABCC9_uc001rfh.2_Missense_Mutation_p.D1395Y|ABCC9_uc001rfj.1_Missense_Mutation_p.D1359Y NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1395 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTATTGGATCCTGCAGAATG 0.378 NA 52 113 1.13e-26 1.54e-26 1 0 ABCC9 10060 broad.mit.edu 37 12 22028605 22028605 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:22028605T>C uc001rfi.1 - 15 2095 c.2075A>G c.(2074-2076)GAT>GGT p.D692G ABCC9_uc001rfh.2_Missense_Mutation_p.D692G|ABCC9_uc001rfj.1_Missense_Mutation_p.D656G NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 692 Cytoplasmic (Potential).|ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AATTCGAATATCTATATTGGA 0.308 NA 42 60 0 0 0 0 FGD4 121512 broad.mit.edu 37 12 32735204 32735204 + Missense_Mutation SNP A A G rs139620944 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:32735204A>G uc001rkz.2 + 4 880 c.403A>G c.(403-405)ACT>GCT p.T135A FGD4_uc001rlc.2_Missense_Mutation_p.T220A|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.T247A|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.T135A NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 135 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AAGAGATGAAACTGCCACAGC 0.493 NA 38 94 0 0 0 0 CNTN1 1272 broad.mit.edu 37 12 41422960 41422960 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:41422960T>A uc001rmm.1 + 23 3032 c.2919T>A c.(2917-2919)GTT>GTA p.V973V CNTN1_uc001rmn.1_Silent_p.V962V NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 973 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAGAATACGTTGTGGAGGTTC 0.448 NA 148 167 0 0 0 0 DNAJC22 79962 broad.mit.edu 37 12 49745133 49745133 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:49745133G>A uc001rua.2 + 3 1275 c.874G>A c.(874-876)GAA>AAA p.E292K DNAJC22_uc001rub.2_Missense_Mutation_p.E292K NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 292 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 AACAAATGAAGAAATACATCG 0.522 NA 33 73 0 0 0 0 SLC11A2 4891 broad.mit.edu 37 12 51388355 51388355 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:51388355G>C uc001rxe.3 - 11 1146 c.1049C>G c.(1048-1050)TCG>TGG p.S350W SLC11A2_uc001rxd.3_Missense_Mutation_p.S199W|SLC11A2_uc001rxc.3_Missense_Mutation_p.S350W|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'UTR|SLC11A2_uc010smx.1_Missense_Mutation_p.S346W|SLC11A2_uc001rxh.1_Missense_Mutation_p.S350W|SLC11A2_uc001rxj.1_Missense_Mutation_p.S350W|SLC11A2_uc001rxi.2_Missense_Mutation_p.S350W|SLC11A2_uc001rxk.1_Missense_Mutation_p.S379W|SLC11A2_uc010smy.1_Missense_Mutation_p.S313W NM_000617 NP_000608 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled 350 Extracellular (Potential). activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity large_intestine(1) 1 AGCCAGTGTCGAGTTATCTTT 0.403 NA 57 95 0 0 0 0 KRT73 319101 broad.mit.edu 37 12 53012037 53012037 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:53012037A>G uc001sas.2 - 1 307 c.272T>C c.(271-273)TTG>TCG p.L91S NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 91 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CACGGACCCCAAGGCCACACT 0.627 NA 111 162 0 0 0 0 HOXC13 3229 broad.mit.edu 37 12 54338804 54338804 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:54338804G>A uc001sei.2 + 2 872 c.757G>A c.(757-759)GAG>AAG p.E253K HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 253 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CCTGCAGCCCGAGGTGAGCAG 0.607 NA T NUP98 AML 148 213 0 0 0 0 AVIL 10677 broad.mit.edu 37 12 58197112 58197112 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:58197112T>G uc001sqj.1 - 15 1909 c.1880A>C c.(1879-1881)CAA>CCA p.Q627P AVIL_uc009zqe.1_Missense_Mutation_p.Q620P|AVIL_uc001sqk.1_Missense_Mutation_p.Q205P NM_006576 NP_006567 O75366 AVIL_HUMAN advillin 627 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding central_nervous_system(1) 1 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GACAACGAATTGGCCGGTCTT 0.478 NA OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 139 214 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 70928431 70928431 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:70928431C>T uc001swb.3 - 29 5581 c.5551G>A c.(5551-5553)GAG>AAG p.E1851K uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1761K|PTPRB_uc010stp.1_Missense_Mutation_p.E1761K|PTPRB_uc001swc.3_Missense_Mutation_p.E2069K|PTPRB_uc001swa.3_Missense_Mutation_p.E1981K NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1851 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCTGTTCCTCCTGTAAGAGC 0.493 NA 17 18 0 0 0 0 OSBPL8 114882 broad.mit.edu 37 12 76791585 76791585 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:76791585C>A uc001sye.1 - 8 1041 c.561G>T c.(559-561)TGG>TGT p.W187C OSBPL8_uc001syf.1_Missense_Mutation_p.W145C|OSBPL8_uc001syg.1_Missense_Mutation_p.W145C|OSBPL8_uc001syh.1_Missense_Mutation_p.W162C NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 187 PH. lipid transport lipid binding ovary(1) 1 CTGTTCCTACCCACTGACCAT 0.398 NA 48 71 1.01e-21 1.31e-21 1 0 DEPDC4 120863 broad.mit.edu 37 12 100660775 100660775 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:100660775T>C uc001thi.2 - 1 83 c.80A>G c.(79-81)AAC>AGC p.N27S SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.2_5'Flank|DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.N27S|DEPDC4_uc009ztv.1_Missense_Mutation_p.N27S|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_RNA NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 27 intracellular signal transduction 0 CGGAAGCTCGTTCTGACTGAC 0.602 NA 97 119 0 0 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603501 101603501 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:101603501G>A uc001thz.3 - 1 516 c.126C>T c.(124-126)TCC>TCT p.S42S NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 42 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 GGAAGTCCTTGGAGGTCTGCT 0.657 NA 25 38 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104054129 104054129 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:104054129A>T uc001tjw.2 + 16 1941 c.1755A>T c.(1753-1755)GAA>GAT p.E585D NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 585 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AGCTTCTGGAACTCGTCAGAT 0.438 NA 146 219 0 0 0 0 POLR3B 55703 broad.mit.edu 37 12 106760311 106760311 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:106760311A>G uc001tlp.2 + 3 345 c.123A>G c.(121-123)AAA>AAG p.K41K POLR3B_uc001tlq.2_5'UTR NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 41 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 GCCTTGTGAAACAGCATATAG 0.318 NA 45 44 0 0 0 0 USP30 84749 broad.mit.edu 37 12 109522854 109522854 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:109522854C>T uc010sxi.1 + 12 1369 c.1265C>T c.(1264-1266)CCT>CTT p.P422L USP30_uc001tnu.3_Missense_Mutation_p.P391L|USP30_uc001tnw.3_Missense_Mutation_p.P139L NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 422 Cytoplasmic (Potential). ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(1) 1 ATGCCCTTCCCTCTCCCAGTT 0.507 NA 250 374 0 0 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124221737 124221737 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:124221737G>T uc001ufr.2 + 9 1205 c.957G>T c.(955-957)GTG>GTT p.V319V ATP6V0A2_uc001ufq.1_Silent_p.V319V NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 319 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) GCTTTGACGTGACCAACAAGT 0.562 NA 51 68 6.17e-35 8.81e-35 1 0 TMEM132D 121256 broad.mit.edu 37 12 129559181 129559181 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:129559181T>G uc009zyl.1 - 9 2867 c.2539A>C c.(2539-2541)ATG>CTG p.M847L TMEM132D_uc001uia.2_Missense_Mutation_p.M385L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 847 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATGAGTCCCATAGAAGAACTG 0.527 NA 62 87 0 0 0 0 TPTE2 93492 broad.mit.edu 37 13 20039644 20039644 + Silent SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:20039644A>T uc001umd.2 - 9 784 c.573T>A c.(571-573)CTT>CTA p.L191L TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.L80L|TPTE2_uc001ume.2_Silent_p.L114L|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 191 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TTTTTTGATGAAGCAGATGAA 0.333 NA 28 11 0 0 0 0 ATP8A2 51761 broad.mit.edu 37 13 26129169 26129169 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:26129169T>A uc001uqk.2 + 13 1368 c.1226T>A c.(1225-1227)ATG>AAG p.M409K ATP8A2_uc010tdi.1_Missense_Mutation_p.M369K|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.M369K NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 369 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACTCCTGCCATGGCCAGGACA 0.418 NA 61 19 0 0 0 0 RXFP2 122042 broad.mit.edu 37 13 32339279 32339279 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:32339279T>A uc001utt.2 + 4 496 c.425T>A c.(424-426)CTG>CAG p.L142Q RXFP2_uc010aba.2_Missense_Mutation_p.L125Q NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 142 LRR 1.|Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GTGACATTACTGTGAGTAAAA 0.343 NA 38 12 0 0 0 0 SIAH3 283514 broad.mit.edu 37 13 46357979 46357979 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:46357979C>A uc001vap.2 - 2 431 c.349G>T c.(349-351)GAA>TAA p.E117* NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 117 SIAH-type; degenerate. multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 AGGCGGCCTTCCCACTGGCAG 0.562 NA 55 24 4.67e-28 6.44e-28 1 0 SLITRK5 26050 broad.mit.edu 37 13 88329715 88329715 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:88329715G>T uc001vln.2 + 2 2291 c.2072G>T c.(2071-2073)CGC>CTC p.R691L SLITRK5_uc010tic.1_Missense_Mutation_p.R450L NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 691 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTCATGAAGCGCAGGAAGAAG 0.602 NA 25 18 1.55e-16 1.94e-16 1 0 OR4K1 79544 broad.mit.edu 37 14 20403895 20403895 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:20403895C>T uc001vwj.1 + 1 70 c.70C>T c.(70-72)CAA>TAA p.Q24* NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CTGGGGACTTCAACTTTTCTT 0.358 NA 196 326 0 0 0 0 OR11G2 390439 broad.mit.edu 37 14 20666109 20666109 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:20666109C>A uc010tlb.1 + 1 615 c.615C>A c.(613-615)TCC>TCA p.S205S NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 205 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CCCAAATGTCCTTCTGTGGAT 0.443 NA 59 19 8.29e-21 1.07e-20 1 0 TEP1 7011 broad.mit.edu 37 14 20846329 20846329 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:20846329C>G uc001vxe.2 - 39 5615 c.5575G>C c.(5575-5577)GTG>CTG p.V1859L TEP1_uc010ahk.2_Missense_Mutation_p.V1202L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V1751L|TEP1_uc010tlh.1_Missense_Mutation_p.V197L NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1859 WD 6. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCCGGCCCACAGCCACAACC 0.622 NA 47 15 0 0 0 0 MYH6 4624 broad.mit.edu 37 14 23866242 23866242 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:23866242C>T uc001wjv.2 - 18 2165 c.2098G>A c.(2098-2100)GTG>ATG p.V700M NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 700 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCCTCCAGCACGCCATTGCAG 0.617 NA 43 13 0 0 0 0 NPAS3 64067 broad.mit.edu 37 14 34247672 34247672 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:34247672G>C uc001wru.2 + 9 1111 c.1047G>C c.(1045-1047)AGG>AGC p.R349S NPAS3_uc001wrs.2_Missense_Mutation_p.R336S|NPAS3_uc001wrt.2_Missense_Mutation_p.R317S|NPAS3_uc001wrv.2_Missense_Mutation_p.R319S NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 349 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CTCTTTGTAGGATTAGTGATT 0.403 NA 63 19 0 0 0 0 MAP4K5 11183 broad.mit.edu 37 14 50912808 50912808 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:50912808G>A uc001wya.2 - 17 1494 c.1174C>T c.(1174-1176)CTA>TTA p.L392L MAP4K5_uc001wyb.2_Silent_p.L392L|MAP4K5_uc010anv.1_Silent_p.L392L|MAP4K5_uc001wyc.1_Silent_p.L66L NM_006575 NP_006566 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase 392 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(1) 1 all_epithelial(31;0.000415)|Breast(41;0.0102) TTAGGAGGTAGGGGAGGTGGT 0.274 NA 9 6 0 0 0 0 RGS6 9628 broad.mit.edu 37 14 72939588 72939588 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:72939588G>A uc001xna.3 + 9 1068 c.545G>A c.(544-546)CGG>CAG p.R182Q RGS6_uc010ttn.1_Missense_Mutation_p.R182Q|RGS6_uc001xmx.3_Missense_Mutation_p.R182Q|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.R182Q|RGS6_uc010ttp.1_Missense_Mutation_p.R113Q|RGS6_uc001xmz.1_Missense_Mutation_p.R43Q|RGS6_uc010arg.2_RNA NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 182 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) AGGATTGACCGGAAAAAAGAC 0.448 NA 125 56 0 0 0 0 GALC 2581 broad.mit.edu 37 14 88411945 88411945 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:88411945C>T uc001xvt.2 - 14 2021 c.1622G>A c.(1621-1623)TGG>TAG p.W541* GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Nonsense_Mutation_p.W515*|GALC_uc010tvy.1_Nonsense_Mutation_p.W518*|GALC_uc010tvz.1_Nonsense_Mutation_p.W485* NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 541 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 ATCGGCAGCCCATGTAATGGG 0.418 NA 57 21 0 0 0 0 TTC8 123016 broad.mit.edu 37 14 89338730 89338730 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:89338730C>A uc010ath.2 + 13 1463 c.1329C>A c.(1327-1329)AAC>AAA p.N443K TTC8_uc001xxl.2_Missense_Mutation_p.N188K|TTC8_uc010ati.2_Missense_Mutation_p.N229K|TTC8_uc001xxm.2_Missense_Mutation_p.N387K|TTC8_uc010atj.2_Missense_Mutation_p.N162K|TTC8_uc001xxi.2_Missense_Mutation_p.N427K|TTC8_uc001xxj.2_Missense_Mutation_p.N417K|TTC8_uc001xxk.2_Missense_Mutation_p.N387K NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 453 TPR 7. cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 TGGTCAACAACAACAACCACG 0.532 NA Bardet-Biedl_syndrome 63 18 1.13e-26 1.54e-26 1 0 SLC24A4 123041 broad.mit.edu 37 14 92959954 92959954 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:92959954G>A uc001yak.2 + 17 1824 c.1800G>A c.(1798-1800)ATG>ATA p.M600I SLC24A4_uc001yai.2_Missense_Mutation_p.M553I|SLC24A4_uc010twm.1_Missense_Mutation_p.M598I|SLC24A4_uc001yaj.2_Missense_Mutation_p.M581I|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.M373I|SLC24A4_uc001yan.2_Missense_Mutation_p.M311I NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 617 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) ACTTGCCGATGTGCCGGGAAG 0.562 NA 25 2 0 0 0 0 DICER1 23405 broad.mit.edu 37 14 95595897 95595897 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:95595897G>A uc001ydw.2 - 7 828 c.646C>T c.(646-648)CCA>TCA p.P216S DICER1_uc001ydv.2_Missense_Mutation_p.P206S|DICER1_uc001ydx.2_Missense_Mutation_p.P216S NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 216 Helicase ATP-binding. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AATTCCTCTGGATCACATTTC 0.373 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 61 21 0 0 0 0 ATG2B 55102 broad.mit.edu 37 14 96777573 96777573 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:96777573T>A uc001yfi.2 - 28 4407 c.4042A>T c.(4042-4044)ACG>TCG p.T1348S NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1348 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCTGAGCACGTTCTGATATGG 0.448 NA 113 33 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24921370 24921370 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:24921370C>T uc001ywo.2 + 1 830 c.356C>T c.(355-357)CCC>CTC p.P119L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 119 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ATCCCTCCTCCCAGCCGCATG 0.652 NA 71 89 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24922340 24922340 + Silent SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:24922340T>G uc001ywo.2 + 1 1800 c.1326T>G c.(1324-1326)CCT>CCG p.P442P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 442 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGCCTATCCCTCCACTTTCCA 0.527 NA 60 100 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 26026341 26026341 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:26026341C>A uc010ayu.2 - 2 585 c.479G>T c.(478-480)TGG>TTG p.W160L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 160 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GATTTCTTTCCAGAATCGGTT 0.363 NA 25 26 4.4e-07 4.92e-07 1 0 BUB1B 701 broad.mit.edu 37 15 40488910 40488910 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:40488910G>A uc001zkx.3 + 9 1435 c.1223G>A c.(1222-1224)GGG>GAG p.G408E BUB1B_uc010ucl.1_Missense_Mutation_p.G271E NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 408 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) GCAGGAGTAGGGGAATTCTCC 0.418 NA Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 4 138 0 0 0 0 ADAL 161823 broad.mit.edu 37 15 43627996 43627996 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:43627996G>A uc010udo.1 + 5 740 c.166G>A c.(166-168)GAC>AAC p.D56N ADAL_uc001zrh.2_Missense_Mutation_p.D56N NM_001159280 NP_001152752 Q6DHV7 ADAL_HUMAN adenosine deaminase-like isoform 1 56 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding 0 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GACTGTGATTGACAAGGGAAA 0.378 NA 88 110 0 0 0 0 SHF 90525 broad.mit.edu 37 15 45460274 45460274 + Silent SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:45460274C>G uc001zuy.2 - 8 1638 c.1143G>C c.(1141-1143)GTG>GTC p.V381V SHF_uc010uen.1_Silent_p.V197V|SHF_uc010ueo.1_Silent_p.V197V|SHF_uc010uep.1_3'UTR|SHF_uc010ueq.1_Silent_p.V157V|SHF_uc010uer.1_3'UTR NM_138356 NP_612365 Q7M4L6 SHF_HUMAN Src homology 2 domain containing F Error:Variant_position_missing_in_B3KTY1_after_alignment ovary(1) 1 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) TCTGGCCCAGCACATATTTGT 0.572 NA OREG0023104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 44 0 0 0 0 SLC24A5 283652 broad.mit.edu 37 15 48428997 48428997 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:48428997C>A uc001zwe.2 + 6 781 c.708C>A c.(706-708)GCC>GCA p.A236A SLC24A5_uc010bel.2_Silent_p.A176A|uc001zwf.1_5'Flank NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 236 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CCTGTCTTGCCAAAGCTATGG 0.388 NA 28 36 4.78e-09 5.49e-09 1 0 ATP8B4 79895 broad.mit.edu 37 15 50336882 50336882 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:50336882G>T uc001zxu.2 - 5 351 c.209C>A c.(208-210)CCA>CAA p.P70Q ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 70 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGAAATTTCTGGAATTAGCTG 0.353 NA 22 37 1.11e-12 1.34e-12 1 0 TRPM7 54822 broad.mit.edu 37 15 50929755 50929755 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:50929755C>A uc001zyt.3 - 7 960 c.696G>T c.(694-696)CTG>CTT p.L232L TRPM7_uc010bew.1_Silent_p.L232L NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 232 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCAATTTGCTCAGGGGGTTCA 0.373 NA 57 57 1.55e-18 1.96e-18 1 0 UNC13C 440279 broad.mit.edu 37 15 54307549 54307549 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:54307549C>A uc002ack.2 + 1 2449 c.2449C>A c.(2449-2451)CAG>AAG p.Q817K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 817 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAAAAGCACACAGAGTCTGAG 0.428 NA 33 45 1.6e-16 2e-16 1 0 UNC13C 440279 broad.mit.edu 37 15 54307585 54307585 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:54307585T>C uc002ack.2 + 1 2485 c.2485T>C c.(2485-2487)TTA>CTA p.L829L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 829 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGGCTCTTCATTAATGGGGAG 0.428 NA 40 39 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62312738 62312738 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:62312738C>A uc002agz.2 - 9 699 c.625_splice c.e9-1 p.V209_splice VPS13C_uc002aha.2_Splice_Site_p.V166_splice|VPS13C_uc002ahb.1_Splice_Site_p.V209_splice|VPS13C_uc002ahc.1_Splice_Site_p.V166_splice NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A protein localization ovary(2) 2 GATCAGTGACCTACCAAAGAA 0.403 NA 37 45 8.69e-16 1.08e-15 1 0 PLEKHO2 80301 broad.mit.edu 37 15 65157206 65157206 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:65157206G>C uc002anv.2 + 6 726 c.592G>C c.(592-594)GAG>CAG p.E198Q PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.E148Q NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 198 Pro-rich. ovary(1)|lung(1) 2 CCAACCTCGGGAGACACCCCG 0.622 NA 59 149 0 0 0 0 DENND4A 10260 broad.mit.edu 37 15 65994823 65994823 + Silent SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:65994823T>G uc002aph.2 - 17 2628 c.2250A>C c.(2248-2250)GCA>GCC p.A750A DENND4A_uc002api.2_Silent_p.A750A|DENND4A_uc002apj.3_Silent_p.A750A NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AGTACCTCTTTGCAATTTTAT 0.373 NA 6 4 0 0 0 0 ARID3B 10620 broad.mit.edu 37 15 74865224 74865224 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:74865224G>A uc002aye.2 + 3 775 c.574G>A c.(574-576)GAT>AAT p.D192N ARID3B_uc002ayc.2_Missense_Mutation_p.D192N|ARID3B_uc002ayd.2_Missense_Mutation_p.D192N NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 GGCCTGGAGTGATGATGCAGA 0.473 NA 35 79 0 0 0 0 LINGO1 84894 broad.mit.edu 37 15 77907035 77907035 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:77907035T>A uc002bct.1 - 2 1266 c.1214A>T c.(1213-1215)AAG>ATG p.K405M LINGO1_uc002bcu.1_Missense_Mutation_p.K399M NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 405 Extracellular (Potential).|LRRCT. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 CTTGAACTCCTTGCCCTGGAC 0.662 NA 7 11 0 0 0 0 BCL2A1 597 broad.mit.edu 37 15 80263104 80263104 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:80263104A>G uc002bfc.3 - 1 540 c.358T>C c.(358-360)TAT>CAT p.Y120H BCL2A1_uc002bfd.3_Missense_Mutation_p.Y120H NM_004049 NP_004040 Q16548 B2LA1_HUMAN BCL2-related protein A1 isoform 1 120 anti-apoptosis|apoptosis cytoplasm protein binding pancreas(1) 1 GCAACAAAATATGAAATCTCC 0.388 NA 133 171 0 0 0 0 ACAN 176 broad.mit.edu 37 15 89388786 89388786 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:89388786G>A uc010upo.1 + 7 1476 c.1102G>A c.(1102-1104)GAG>AAG p.E368K ACAN_uc002bmx.2_Missense_Mutation_p.E368K|ACAN_uc010upp.1_Missense_Mutation_p.E368K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 368 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGGGGGTGAGGAGGACATCAC 0.572 NA 28 38 0 0 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147209 26147209 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:26147209G>T uc002dof.2 + 2 1403 c.1011G>T c.(1009-1011)GCG>GCT p.A337A NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 337 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) GGATCTATGCGCTGCATCTGG 0.557 NA 138 44 1.37e-54 2.07e-54 1 0 NKD1 85407 broad.mit.edu 37 16 50667328 50667328 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:50667328A>G uc002egg.1 + 10 1273 c.1049A>G c.(1048-1050)AAG>AGG p.K350R NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 350 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) AGGTCCCCCAAGGCCCAGGGC 0.662 NA 53 10 0 0 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601279 55601279 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:55601279T>C uc002eid.1 + 1 696 c.611T>C c.(610-612)ATG>ACG p.M204T LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron NM_032330 NP_115706 Q96L46 CPNS2_HUMAN calpain small subunit 2 204 EF-hand 3. cytoplasm|plasma membrane calcium ion binding 0 GATGGAGATATGGATTTTAAC 0.478 NA 198 66 0 0 0 0 C16orf70 80262 broad.mit.edu 37 16 67168322 67168322 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:67168322C>T uc002erc.2 + 9 697 c.613C>T c.(613-615)CGA>TGA p.R205* C16orf70_uc002erd.2_Nonsense_Mutation_p.R205*|C16orf70_uc002ere.1_3'UTR NM_025187 NP_079463 Q9BSU1 CP070_HUMAN lin-10 205 ovary(2) 2 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) AGATGTTCTTCGAGATGGAAC 0.512 NA 246 77 0 0 0 0 CENPT 80152 broad.mit.edu 37 16 67862385 67862385 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:67862385C>T uc002eun.3 - 15 2103 c.1554G>A c.(1552-1554)CTG>CTA p.L518L CENPT_uc002eum.3_Silent_p.L463L|CENPT_uc010vkc.1_3'UTR|CENPT_uc010vkd.1_Silent_p.L271L NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 518 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) ACCGCCGCATCAGCAGCTCCA 0.562 NA 109 31 0 0 0 0 DDX28 55794 broad.mit.edu 37 16 68056395 68056395 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:68056395C>A uc002evh.1 - 1 1565 c.711G>T c.(709-711)CTG>CTT p.L237L DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank NM_018380 NP_060850 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 237 Helicase ATP-binding. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) GGCCTCCCTCCAGGTCCCGCA 0.657 NA 30 8 7.68e-24 1.03e-23 1 0 HYDIN 54768 broad.mit.edu 37 16 70989378 70989378 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:70989378C>A uc002ezr.2 - 40 6341 c.6213G>T c.(6211-6213)CTG>CTT p.L2071L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2072 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CCACAGCTTCCAGCACAATGG 0.557 NA 48 15 2.95e-30 4.11e-30 1 0 GLG1 2734 broad.mit.edu 37 16 74519693 74519693 + Splice_Site SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:74519693C>T uc002fcy.3 - 9 1621 c.1571_splice c.e9+1 p.M524_splice GLG1_uc002fcx.2_Splice_Site_p.M524_splice|GLG1_uc002fcw.3_Splice_Site_p.M513_splice|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 AGATAACTTACATTGGGTCTC 0.408 NA 68 23 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577610 7577610 + Splice_Site SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:7577610T>C uc002gim.2 - 7 867 c.673_splice c.e7-1 p.V225_splice TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(22)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(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) AGAGCCAACCTAGGAGATAAC 0.483 111 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-Fraumeni_syndrome|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) 53 10 0 0 0 0 MYH10 4628 broad.mit.edu 37 17 8526248 8526248 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:8526248T>C uc002gll.2 - 2 413 c.317A>G c.(316-318)AAG>AGG p.K106R MYH10_uc002glm.2_Missense_Mutation_p.K106R|MYH10_uc010cnx.2_Missense_Mutation_p.K106R NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 106 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 GTAGCGATCCTTCAGATTATG 0.343 NA 93 112 0 0 0 0 DHRS7C 201140 broad.mit.edu 37 17 9683345 9683345 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:9683345G>T uc010vvb.1 - 3 278 c.278C>A c.(277-279)ACC>AAC p.T93N DHRS7C_uc010cof.2_Missense_Mutation_p.T92N NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 93 extracellular region binding|oxidoreductase activity 0 CAGCTTTGGGGTGAATGTCTG 0.507 NA 16 31 6.94e-10 8.11e-10 1 0 MYH13 8735 broad.mit.edu 37 17 10265781 10265781 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:10265781G>T uc002gmk.1 - 4 334 c.244C>A c.(244-246)CCT>ACT p.P82T NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 82 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 AATTTGGGAGGGTTCATGGGG 0.478 NA 94 164 1.53e-54 2.31e-54 1 0 MYH1 4619 broad.mit.edu 37 17 10408506 10408506 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:10408506C>A uc002gmo.2 - 21 2503 c.2409G>T c.(2407-2409)GTG>GTT p.V803V uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 803 IQ. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCTGGTACTCCACTCTTGCCA 0.433 NA 44 114 1.24e-20 1.59e-20 1 0 DNAH9 1770 broad.mit.edu 37 17 11607761 11607761 + Splice_Site SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:11607761T>C uc002gne.2 + 25 5459 c.5391_splice c.e25+2 p.K1797_splice DNAH9_uc010coo.2_Splice_Site_p.K1091_splice NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTCAGAAGGTGGGTCCCAAA 0.522 NA 28 55 0 0 0 0 MEOX1 4222 broad.mit.edu 37 17 41738516 41738516 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:41738516G>A uc002idz.2 - 1 416 c.387C>T c.(385-387)GGC>GGT p.G129G MEOX1_uc002iea.2_Silent_p.G129G|MEOX1_uc002ieb.2_Silent_p.G14G NM_004527 NP_004518 P50221 MEOX1_HUMAN mesenchyme homeobox 1 isoform 1 129 nucleus sequence-specific DNA binding 0 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) CATCGCCTGGGCCTCCTGTGG 0.627 NA 150 199 0 0 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476285 42476285 + Nonsense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:42476285T>A uc002igw.1 - 8 3224 c.3160A>T c.(3160-3162)AGA>TGA p.R1054* GPATCH8_uc002igv.1_Nonsense_Mutation_p.R976*|GPATCH8_uc010wiz.1_Nonsense_Mutation_p.R976* NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1054 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TCATCTCCTCTGCCATCATCT 0.537 NA 55 65 0 0 0 0 MRC2 9902 broad.mit.edu 37 17 60755933 60755933 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:60755933G>T uc002jad.2 + 13 2523 c.2121G>T c.(2119-2121)CTG>CTT p.L707L MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 707 Extracellular (Potential).|C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GCCAGGAGCTGGGGGCCCAGC 0.627 NA 20 31 3.01e-09 3.48e-09 1 0 TANC2 26115 broad.mit.edu 37 17 61489388 61489388 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:61489388G>A uc002jal.3 + 21 3596 c.3573G>A c.(3571-3573)ATG>ATA p.M1191I TANC2_uc010wpe.1_Missense_Mutation_p.M1101I|TANC2_uc002jao.3_Missense_Mutation_p.M292I NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 1191 ANK 10. binding ovary(2) 2 ATGGGGCCATGATCGAGCACG 0.542 NA 43 41 0 0 0 0 DDX42 11325 broad.mit.edu 37 17 61893008 61893008 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:61893008G>T uc002jbu.2 + 17 2245 c.1988G>T c.(1987-1989)CGG>CTG p.R663L DDX42_uc002jbv.2_Missense_Mutation_p.R663L|DDX42_uc002jbx.2_Missense_Mutation_p.R399L|DDX42_uc002jby.2_Missense_Mutation_p.R209L|DDX42_uc010wps.1_Missense_Mutation_p.R31L NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 663 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 TACAGGGAGCGGCCTGGCCTG 0.463 NA 47 101 2.75e-27 3.76e-27 1 0 TEX2 55852 broad.mit.edu 37 17 62291206 62291206 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:62291206T>C uc002jec.2 - 2 545 c.372A>G c.(370-372)GCA>GCG p.A124A TEX2_uc002jed.2_Silent_p.A124A|TEX2_uc002jee.2_Silent_p.A124A NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 124 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TTAATACTTGTGCTGCTGGAA 0.562 NA 107 118 0 0 0 0 ABCA9 10350 broad.mit.edu 37 17 67041454 67041454 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:67041454C>G uc002jhu.2 - 4 471 c.328G>C c.(328-330)GAT>CAT p.D110H ABCA9_uc010dez.2_Missense_Mutation_p.D110H|ABCA9_uc002jhv.2_Missense_Mutation_p.D110H NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 110 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CTTTTTTCATCAGGCCACCCC 0.378 NA 61 123 0 0 0 0 TRIM47 91107 broad.mit.edu 37 17 73871028 73871028 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:73871028C>A uc002jpw.2 - 6 1480 c.1453G>T c.(1453-1455)GAG>TAG p.E485* TRIM47_uc002jpv.2_Nonsense_Mutation_p.E247* NM_033452 NP_258411 Q96LD4 TRI47_HUMAN tripartite motif-containing 47 485 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|prostate(1)|lung(1)|breast(1) 5 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) ATCTCCACCTCCCAGTAGTAG 0.647 NA 50 68 5.39e-20 6.91e-20 1 0 FASN 2194 broad.mit.edu 37 17 80041269 80041269 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:80041269G>A uc002kdu.2 - 32 5491 c.5374C>T c.(5374-5376)CAC>TAC p.H1792Y FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 1792 Enoyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) AGGACCCCGTGGAATGTCACG 0.652 NA 35 48 0 0 0 0 CCDC57 284001 broad.mit.edu 37 17 80159756 80159756 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:80159756C>T uc002kdz.1 - 3 420 c.65G>A c.(64-66)AGG>AAG p.R22K CCDC57_uc002kdx.1_Missense_Mutation_p.R22K NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 22 ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CTGCAGCGCCCTCCACTCCTC 0.657 NA 13 34 0 0 0 0 NDC80 10403 broad.mit.edu 37 18 2610796 2610796 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:2610796G>A uc002kli.2 + 16 1909 c.1727G>A c.(1726-1728)CGA>CAA p.R576Q NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 576 Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 GAAGAAAGACGAAAAGTGGGA 0.378 NA 85 132 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 7016587 7016587 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:7016587C>A uc002knm.2 - 21 2986 c.2892G>T c.(2890-2892)ACG>ACT p.T964T LAMA1_uc010wzj.1_Silent_p.T440T NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 964 Laminin EGF-like 10. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCTTCATCCGTGCAGCCAT 0.592 NA 27 19 1.75e-11 2.09e-11 1 0 TUBB6 84617 broad.mit.edu 37 18 12325303 12325303 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:12325303C>T uc002kqw.2 + 4 560 c.515C>T c.(514-516)TCG>TTG p.S172L TUBB6_uc002kqv.2_Missense_Mutation_p.S100L|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.S135L|TUBB6_uc002kqy.2_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 172 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) GTCATGCCCTCGCCCAAGGTG 0.617 NA 98 103 0 0 0 0 ROCK1 6093 broad.mit.edu 37 18 18535194 18535194 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:18535194G>C uc002kte.2 - 30 4466 c.3525C>G c.(3523-3525)CAC>CAG p.H1175Q NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 1175 PH.|Auto-inhibitory. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CAGGTCTAACGTGAAACAGTT 0.229 NA 14 23 0 0 0 0 MAPRE2 10982 broad.mit.edu 37 18 32681988 32681988 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:32681988G>C uc002kyg.2 + 4 655 c.475G>C c.(475-477)GAT>CAT p.D159H MAPRE2_uc010xcb.1_Missense_Mutation_p.D116H|MAPRE2_uc010xcc.1_Missense_Mutation_p.D147H|MAPRE2_uc002kyf.2_Missense_Mutation_p.D159H|MAPRE2_uc002kyh.2_Missense_Mutation_p.D106H|MAPRE2_uc010xcd.1_Missense_Mutation_p.D116H NM_014268 NP_055083 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, 159 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding ovary(1) 1 GAAATTCTATGATGCTAACTA 0.423 NA 44 54 0 0 0 0 LIPG 9388 broad.mit.edu 37 18 47108775 47108775 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:47108775C>T uc002ldv.2 + 7 1332 c.1080C>T c.(1078-1080)AAC>AAT p.N360N LIPG_uc010xdh.1_Silent_p.N286N NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 360 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 GTTACAAGAACATGGGAGAAA 0.443 NA 43 89 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50450086 50450086 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:50450086T>A uc002lfe.1 + 4 1294 c.707T>A c.(706-708)CTG>CAG p.L236Q DCC_uc010xdr.1_Missense_Mutation_p.L84Q NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 236 Extracellular (Potential).|Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GATCCAGGACTGCATAGACAG 0.363 NA 39 97 0 0 0 0 DCC 1630 broad.mit.edu 37 18 51013172 51013172 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:51013172G>C uc002lfe.1 + 26 4329 c.3742G>C c.(3742-3744)GTG>CTG p.V1248L DCC_uc010dpf.1_Missense_Mutation_p.V883L NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1248 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGCAGCTGTCGTGAGCGCCAT 0.488 NA 80 100 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63489364 63489364 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:63489364C>A uc002ljz.2 + 5 998 c.673C>A c.(673-675)CAG>AAG p.Q225K CDH7_uc002lka.2_Missense_Mutation_p.Q225K|CDH7_uc002lkb.2_Missense_Mutation_p.Q225K NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 225 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GGCTAAAGACCAGTATTTGCT 0.403 NA 43 60 1.03e-13 1.25e-13 1 0 ZNF407 55628 broad.mit.edu 37 18 72344239 72344239 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:72344239G>T uc002llw.2 + 1 1321 c.1264G>T c.(1264-1266)GTG>TTG p.V422L ZNF407_uc010xfc.1_Missense_Mutation_p.V422L|ZNF407_uc010dqu.1_Missense_Mutation_p.V422L|ZNF407_uc002llu.2_Missense_Mutation_p.V421L NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AAATATTCTCGTGTTGGGTAA 0.433 NA 51 63 2.75e-27 3.76e-27 1 0 PIP5K1C 23396 broad.mit.edu 37 19 3664871 3664871 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:3664871C>T uc002lyj.1 - 3 225 c.168G>A c.(166-168)AAG>AAA p.K56K PIP5K1C_uc010xhq.1_Silent_p.K56K|PIP5K1C_uc010xhr.1_Silent_p.K56K NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 56 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GGCCCAACTTCTTCCCATGGC 0.632 NA 90 121 0 0 0 0 ANKRD24 170961 broad.mit.edu 37 19 4200161 4200161 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:4200161C>T uc010dtt.1 + 5 612 c.336C>T c.(334-336)GAC>GAT p.D112D ANKRD24_uc002lzs.2_Silent_p.D83D|ANKRD24_uc002lzt.2_Silent_p.D84D NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 112 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) TGAGCGCGGACGGGGCAGGTA 0.652 NA 3 17 0 0 0 0 KDM4B 23030 broad.mit.edu 37 19 5134010 5134010 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:5134010G>T uc002mbq.3 + 14 2249 c.2023G>T c.(2023-2025)GCA>TCA p.A675S KDM4B_uc010xim.1_Missense_Mutation_p.A709S|KDM4B_uc002mbr.3_Missense_Mutation_p.A433S NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 675 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 GAAGTTCAACGCAGCGGCTGC 0.667 NA 93 139 7.04e-44 1.04e-43 1 0 TMEM146 257062 broad.mit.edu 37 19 5727297 5727297 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:5727297C>A uc002mda.2 + 3 206 c.145C>A c.(145-147)CCT>ACT p.P49T TMEM146_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 49 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTATTTTCATCCTACAACAAC 0.284 NA 61 76 9.04e-38 1.3e-37 1 0 TNFSF14 8740 broad.mit.edu 37 19 6664993 6664993 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:6664993G>A uc002mfk.1 - 5 1049 c.667C>T c.(667-669)CGC>TGC p.R223C TNFSF14_uc002mfj.1_Missense_Mutation_p.R187C NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 223 Extracellular (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 CGAACCAGGCGTTCATCCAGC 0.612 NA 109 155 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9007503 9007503 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:9007503G>T uc002mkp.2 - 43 39669 c.39465C>A c.(39463-39465)CCC>CCA p.P13155P MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGCTGGGGACGGGGGATGGAG 0.463 NA 13 32 3.33e-07 3.73e-07 1 0 MUC16 94025 broad.mit.edu 37 19 9026207 9026207 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:9026207C>A uc002mkp.2 - 14 36983 c.36779G>T c.(36778-36780)AGT>ATT p.S12260I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12262 SEA 2.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGCAGGACACTCTCCATGGT 0.552 NA 143 192 6.37e-58 9.67e-58 1 0 MUC16 94025 broad.mit.edu 37 19 9072003 9072003 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:9072003G>T uc002mkp.2 - 3 15647 c.15443C>A c.(15442-15444)CCC>CAC p.P5148H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5150 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTGGCTTTGGGTGTCTCTGA 0.458 NA 132 167 5.81e-51 8.72e-51 1 0 ILF3 3609 broad.mit.edu 37 19 10794209 10794209 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:10794209T>C uc002mpn.2 + 15 2159 c.1842T>C c.(1840-1842)TTT>TTC p.F614F ILF3_uc002mpm.2_Silent_p.F618F|ILF3_uc002mpl.2_Silent_p.F614F|ILF3_uc002mpk.2_Silent_p.F614F|ILF3_uc010xli.1_Silent_p.F212F|ILF3_uc002mpo.2_Silent_p.F618F|ILF3_uc002mpp.2_Silent_p.F439F|ILF3_uc002mpq.2_5'Flank NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 614 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GACCGAAATTTGCTGCTAAGG 0.537 NA 75 118 0 0 0 0 RGL3 57139 broad.mit.edu 37 19 11510943 11510943 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:11510943T>C uc002mrp.2 - 14 1579 c.1515A>G c.(1513-1515)CCA>CCG p.P505P RGL3_uc002mrn.2_Silent_p.P269P|RGL3_uc002mrm.2_Silent_p.P269P|RGL3_uc002mro.2_Silent_p.P505P NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 505 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 AGGAGGCAGCTGGTGGCTCAA 0.612 NA 44 83 0 0 0 0 ZNF442 79973 broad.mit.edu 37 19 12461204 12461204 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:12461204G>A uc002mtr.1 - 6 1806 c.1195C>T c.(1195-1197)CAC>TAC p.H399Y ZNF442_uc010xmk.1_Missense_Mutation_p.H330Y NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 399 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 TCTCCAGTGTGCATTATCATA 0.428 NA 168 241 0 0 0 0 WIZ 58525 broad.mit.edu 37 19 15558935 15558935 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:15558935C>A uc002nbb.3 - 2 398 c.184G>T c.(184-186)GAT>TAT p.D62Y MIR1470_hsa-mir-1470|MI0007075_5'Flank NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nucleus zinc ion binding 0 CCTCTGCCATCCAGAATGTCT 0.627 NA 88 135 7.22e-40 1.05e-39 1 0 EPS15L1 58513 broad.mit.edu 37 19 16532206 16532206 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:16532206C>A uc002ndz.1 - 10 880 c.874G>T c.(874-876)GGC>TGC p.G292C EPS15L1_uc002ndx.2_Missense_Mutation_p.G292C|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.G182C|EPS15L1_uc010xpf.1_Missense_Mutation_p.G195C|EPS15L1_uc002nea.1_Missense_Mutation_p.G292C|EPS15L1_uc010eah.1_Missense_Mutation_p.G292C|EPS15L1_uc002neb.1_Missense_Mutation_p.G138C|EPS15L1_uc002nec.1_Missense_Mutation_p.G292C NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 292 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 CTCACGTAGCCATCCAGGTCC 0.537 NA 57 58 3.17e-14 3.88e-14 1 0 OCEL1 79629 broad.mit.edu 37 19 17337113 17337113 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:17337113G>C uc002nfp.2 + 1 59 c.57G>C c.(55-57)CAG>CAC p.Q19H NM_024578 NP_078854 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 19 central_nervous_system(1) 1 CGGAGCTCCAGACGCTGGGAC 0.692 NA 3 12 0 0 0 0 FCHO1 23149 broad.mit.edu 37 19 17886888 17886888 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:17886888G>T uc010ebb.2 + 15 1289 c.1100G>T c.(1099-1101)CGG>CTG p.R367L FCHO1_uc002nhg.3_Missense_Mutation_p.R367L|FCHO1_uc002nhh.2_Missense_Mutation_p.R367L|FCHO1_uc010xpw.1_Missense_Mutation_p.R317L|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 367 breast(1) 1 GCCCCGGCCCGGGCTCCAGCC 0.697 NA 56 63 8.77e-35 1.25e-34 1 0 ZNF253 56242 broad.mit.edu 37 19 20002455 20002455 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:20002455C>G uc002noj.2 + 4 491 c.399C>G c.(397-399)AAC>AAG p.N133K ZNF253_uc002nok.2_Missense_Mutation_p.N57K|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 133 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGGACTTAACCAATGTTTGA 0.323 NA 28 66 0 0 0 0 ZNF493 284443 broad.mit.edu 37 19 21607279 21607279 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:21607279T>C uc002npx.2 + 2 1714 c.1434T>C c.(1432-1434)TGT>TGC p.C478C ZNF493_uc002npw.2_Silent_p.C606C|ZNF493_uc002npy.2_Silent_p.C478C NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 478 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTGAAGAATGTGGCAAAGCTT 0.333 NA 25 39 0 0 0 0 DPY19L3 147991 broad.mit.edu 37 19 32973120 32973120 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:32973120G>T uc002ntg.2 + 19 2301 c.2125G>T c.(2125-2127)GTT>TTT p.V709F DPY19L3_uc002nth.1_Missense_Mutation_p.V709F|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.V131F NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 709 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) AACCTTCCACGTTTACAAGCT 0.458 NA 102 157 1.34e-64 2.04e-64 1 0 RHPN2 85415 broad.mit.edu 37 19 33482784 33482784 + Nonsense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:33482784A>T uc002nuf.2 - 13 1655 c.1589T>A c.(1588-1590)TTG>TAG p.L530* RHPN2_uc010xro.1_Nonsense_Mutation_p.L379*|RHPN2_uc002nue.2_Nonsense_Mutation_p.L260* NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 530 PDZ. signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) GTTCCCTCTCAAGGTGAACCC 0.537 NA 46 90 0 0 0 0 LRP3 4037 broad.mit.edu 37 19 33696633 33696633 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:33696633C>T uc010edh.2 + 5 1050 c.957C>T c.(955-957)GAC>GAT p.D319D LRP3_uc010xrp.1_Silent_p.D193D|LRP3_uc002nuk.3_Silent_p.D193D NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 319 Extracellular (Potential).|CUB 2. receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) AGCGCGGGGACCGCCTGCTGC 0.711 NA 6 11 0 0 0 0 CD22 933 broad.mit.edu 37 19 35828817 35828817 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:35828817C>T uc010edt.2 + 5 955 c.878C>T c.(877-879)ACG>ATG p.T293M CD22_uc010xst.1_Missense_Mutation_p.T121M|CD22_uc010edu.2_Missense_Mutation_p.T293M|CD22_uc010edv.2_Missense_Mutation_p.T293M|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 293 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion protein binding|sugar binding p.T293T(1) ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AATACATTCACGCTAAACCTG 0.562 NA 32 48 0 0 0 0 NPHS1 4868 broad.mit.edu 37 19 36341873 36341873 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:36341873G>A uc002oby.2 - 4 516 c.516C>T c.(514-516)ACC>ACT p.T172T NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 172 Ig-like C2-type 2.|Extracellular (Potential). Missing (in NPHS1). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCAGGAGAATGGTGATGTCAG 0.602 NA 21 28 0 0 0 0 ZNF566 84924 broad.mit.edu 37 19 36964331 36964331 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:36964331T>C uc002oea.3 - 3 121 c.39A>G c.(37-39)GTA>GTG p.V13V ZNF566_uc010xte.1_Silent_p.V13V|ZNF566_uc010xtf.1_Silent_p.V13V|ZNF566_uc002oeb.3_Silent_p.V13V|ZNF566_uc002oec.3_Intron|ZNF566_uc010xtg.1_Intron NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) GAGAGAAGTCTACGGACACAT 0.388 NA 84 133 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38934789 38934789 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:38934789G>A uc002oit.2 + 6 555 c.425G>A c.(424-426)GGA>GAA p.G142E RYR1_uc002oiu.2_Missense_Mutation_p.G142E NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 142 Cytoplasmic.|MIR 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCACCCATAGGAGAGGCTTGC 0.612 NA 20 34 0 0 0 0 CYP2B6 1555 broad.mit.edu 37 19 41515933 41515933 + Missense_Mutation SNP A A T rs146617126 byFrequency TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:41515933A>T uc002opr.1 + 6 864 c.857A>T c.(856-858)CAG>CTG p.Q286L CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 286 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) TTCAGCCACCAGAACCTCAAC 0.562 NA 43 62 0 0 0 0 DMRTC2 63946 broad.mit.edu 37 19 42352590 42352590 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:42352590C>A uc002ors.2 + 4 524 c.441C>A c.(439-441)CCC>CCA p.P147P DMRTC2_uc002orr.1_Missense_Mutation_p.P11Q|DMRTC2_uc010xwe.1_Silent_p.P147P NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 147 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 CGACACCCCCCGGGAAGGTAA 0.552 NA 6 22 8.13e-05 8.7e-05 1 0 ZNF578 147660 broad.mit.edu 37 19 53013842 53013843 + Missense_Mutation DNP AT AT TG TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:53013842_53013843AT>TG uc002pzp.3 + 6 452_453 c.208_209AT>TG c.(208-210)ATG>TGG p.M70W NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 Error:Variant_position_missing_in_Q96N58_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTCCAAACGCATGATGAAGGAG 0.371 NA 111 214 0 0 0 0 ZNF320 162967 broad.mit.edu 37 19 53384177 53384177 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:53384177G>A uc002qag.2 - 4 1393 c.1202C>T c.(1201-1203)GCA>GTA p.A401V ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.A347V|ZNF320_uc002qai.2_Missense_Mutation_p.A401V NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 401 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TTGATGACATGCGAGGTACGC 0.388 NA 61 114 0 0 0 0 ZNF761 388561 broad.mit.edu 37 19 53959133 53959133 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:53959133A>G uc010eqp.2 + 7 1830 c.1372A>G c.(1372-1374)AGA>GGA p.R458G ZNF761_uc010ydy.1_Missense_Mutation_p.R404G|ZNF761_uc002qbt.1_Missense_Mutation_p.R404G NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 458 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ATGCCATCGTAGACGTCATAC 0.388 NA 76 104 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54314439 54314439 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:54314439G>T uc002qch.3 - 3 694 c.474C>A c.(472-474)ACC>ACA p.T158T NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.T158T|NLRP12_uc002qcj.3_Silent_p.T158T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.T158T NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 158 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCAGGAGCCGGGTGTACCGGT 0.617 NA 93 128 8.65e-51 1.3e-50 1 0 NLRP2 55655 broad.mit.edu 37 19 55494535 55494535 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:55494535G>C uc002qij.2 + 6 1555 c.1469G>C c.(1468-1470)CGC>CCC p.R490P NLRP2_uc010yfp.1_Missense_Mutation_p.R467P|NLRP2_uc010esn.2_Missense_Mutation_p.R466P|NLRP2_uc010eso.2_Missense_Mutation_p.R487P|NLRP2_uc010esp.2_Missense_Mutation_p.R468P NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 490 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GACATCCTCCGCCAGGACAGA 0.602 NA 49 77 0 0 0 0 NLRP5 126206 broad.mit.edu 37 19 56539566 56539566 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:56539566C>A uc002qmj.2 + 7 1967 c.1967C>A c.(1966-1968)CCC>CAC p.P656H NLRP5_uc002qmi.2_Missense_Mutation_p.P637H NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 656 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTGGGCTGTCCCGTTCCCCTG 0.597 NA 77 113 5.22e-30 7.26e-30 1 0 ZNF582 147948 broad.mit.edu 37 19 56895725 56895725 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:56895725A>G uc002qmz.1 - 5 1220 c.1061T>C c.(1060-1062)CTT>CCT p.L354P ZNF582_uc002qmy.2_Missense_Mutation_p.L385P NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 354 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) ATGTCGTATAAGAGTTGAGCC 0.418 NA 105 135 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57176253 57176253 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:57176253C>A uc010ygo.1 - 2 380 c.380G>T c.(379-381)GGC>GTC p.G127V ZNF835_uc010ygn.1_Missense_Mutation_p.G105V NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CTTCTTGGGGCCTCCACCTCT 0.632 NA 26 43 7.01e-11 8.31e-11 1 0 ZNF548 147694 broad.mit.edu 37 19 57910559 57910559 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:57910559G>T uc002qom.2 + 3 1154 c.904G>T c.(904-906)GTT>TTT p.V302F ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.V305F NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 302 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACATCAGAGAGTTCACACCGG 0.458 NA 38 65 4.63e-21 5.98e-21 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58549383 58549383 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:58549383G>C uc002qrc.1 + 3 426 c.179G>C c.(178-180)TGG>TCG p.W60S ZSCAN1_uc002qra.1_Missense_Mutation_p.W60S|ZSCAN1_uc002qrb.1_Missense_Mutation_p.W60S NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 60 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGCCAGCTCTGGACGCTGTGC 0.711 NA 8 7 0 0 0 0 ZNF497 162968 broad.mit.edu 37 19 58868799 58868799 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:58868799C>A uc002qsh.1 - 3 392 c.203G>T c.(202-204)GGA>GTA p.G68V A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.G68V|uc002qsj.1_Missense_Mutation_p.S57Y|uc002qsk.1_5'Flank NM_198458 NP_940860 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) GCCGGGGCCTCCCTGTTCGTC 0.746 NA 6 11 0.000442599 0.000468102 1 0 NTSR2 23620 broad.mit.edu 37 2 11802345 11802345 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:11802345C>A uc002rbq.3 - 2 720 c.646G>T c.(646-648)GTG>TTG p.V216L NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 216 Extracellular (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) AAGGGGAGCACGAAGGACACC 0.647 NA 99 146 1.91e-35 2.73e-35 1 0 APOB 338 broad.mit.edu 37 2 21242655 21242655 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:21242655G>A uc002red.2 - 19 3067 c.2939C>T c.(2938-2940)GCT>GTT p.A980V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 980 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTGGAGTAAGCGCCTGAGGT 0.552 NA 32 33 0 0 0 0 CCDC85A 114800 broad.mit.edu 37 2 56602977 56602977 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:56602977T>A uc002rzn.2 + 5 1981 c.1479T>A c.(1477-1479)GCT>GCA p.A493A NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 493 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CATCAGGGGCTGATGGGAGTA 0.408 NA 49 57 0 0 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71189914 71189914 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:71189914C>G uc002shj.2 + 9 880 c.793C>G c.(793-795)CGG>GGG p.R265G ATP6V1B1_uc010fdv.2_Missense_Mutation_p.R265G|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.R223G NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 265 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 CAGGATCGAGCGGATCATCAC 0.582 NA 35 83 0 0 0 0 PAIP2B 400961 broad.mit.edu 37 2 71429712 71429712 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:71429712C>A uc002shu.2 - 2 195 c.8G>T c.(7-9)GGA>GTA p.G3V NM_020459 NP_065192 Q9ULR5 PAI2B_HUMAN poly(A) binding protein interacting protein 2B 3 negative regulation of translational initiation protein binding|translation repressor activity, nucleic acid binding 0 CATATTGGATCCATTCATTAT 0.378 NA 78 87 1.25e-41 1.83e-41 1 0 REG1A 5967 broad.mit.edu 37 2 79348763 79348763 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:79348763G>T uc002snz.2 + 3 243 c.140G>T c.(139-141)TGC>TTC p.C47F REG1A_uc010ffx.1_Missense_Mutation_p.C47F|REG1A_uc010ysd.1_Missense_Mutation_p.C47F NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 47 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CGCTCCTACTGCTACTACTTT 0.542 NA 133 199 1.39e-51 2.09e-51 1 0 CTNNA2 1496 broad.mit.edu 37 2 80136777 80136777 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:80136777G>T uc010ysh.1 + 6 915 c.910G>T c.(910-912)GAG>TAG p.E304* CTNNA2_uc010yse.1_Nonsense_Mutation_p.E304*|CTNNA2_uc010ysf.1_Nonsense_Mutation_p.E304*|CTNNA2_uc010ysg.1_Nonsense_Mutation_p.E304* NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 304 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GCCGTCCCTGGAGGAGAGGCT 0.592 NA 60 107 5.41e-41 7.91e-41 1 0 TMEM150A 129303 broad.mit.edu 37 2 85829067 85829067 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:85829067G>T uc002spw.1 - 1 726 c.5C>A c.(4-6)ACC>AAC p.T2N USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_5'UTR|TMEM150A_uc002spz.1_5'UTR|TMEM150A_uc002sqa.1_5'UTR|TMEM150A_uc002spy.1_Missense_Mutation_p.T2N NM_001031738 NP_001026908 Q86TG1 T150A_HUMAN transmembrane protein 150A isoform 1 2 integral to membrane|plasma membrane 0 GATCCAGGCGGTCATGAGGGA 0.612 NA 168 257 1.85e-90 2.84e-90 1 0 AFF3 3899 broad.mit.edu 37 2 100625330 100625330 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:100625330G>T uc002tag.2 - 4 354 c.118C>A c.(118-120)CAA>AAA p.Q40K AFF3_uc002taf.2_Missense_Mutation_p.Q65K|AFF3_uc010fiq.1_Missense_Mutation_p.Q40K|AFF3_uc010yvr.1_Missense_Mutation_p.Q194K|AFF3_uc002tah.1_Missense_Mutation_p.Q65K|AFF3_uc010fir.1_Missense_Mutation_p.Q117K|AFF3_uc002tai.2_5'Flank NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 40 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TCATCCTGTTGAGTTTCTTGA 0.403 NA 18 26 3.33e-07 3.73e-07 1 0 RGPD3 653489 broad.mit.edu 37 2 107042508 107042508 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:107042508G>T uc010ywi.1 - 19 2699 c.2642C>A c.(2641-2643)TCA>TAA p.S881* NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 881 intracellular transport binding ovary(1) 1 ATATGCTGGTGACTGACTATA 0.308 NA 38 153 1.33e-27 1.82e-27 1 0 PCDP1 200373 broad.mit.edu 37 2 120413946 120413946 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:120413946A>G uc002tmb.2 + 25 2657 c.1565A>G c.(1564-1566)AAA>AGA p.K522R NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 808 cilium calmodulin binding 0 Colorectal(110;0.196) AGAGAAGTGAAAGATCAAGCA 0.498 NA 30 47 0 0 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131797883 131797883 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:131797883A>T uc002tsa.1 + 8 1494 c.974A>T c.(973-975)CAG>CTG p.Q325L ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.Q325L|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002tsc.1_5'UTR NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 325 DH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AGCGAGGAGCAGCTGCGTACC 0.667 NA 14 24 0 0 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135878405 135878405 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:135878405C>T uc002tuj.2 + 8 690 c.665C>T c.(664-666)CCA>CTA p.P222L RAB3GAP1_uc010fnf.2_Missense_Mutation_p.P222L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.P47L|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 222 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) CCTTTAACTCCATTGCCTCCA 0.378 NA 93 138 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141460022 141460022 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:141460022G>A uc002tvj.1 - 38 7096 c.6124C>T c.(6124-6126)CCG>TCG p.P2042S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2042 Extracellular (Potential).|LDL-receptor class B 21. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGCCATTCGGCCATGCTATT 0.433 NA TSP Lung(27;0.18) 49 111 0 0 0 0 ZEB2 9839 broad.mit.edu 37 2 145147422 145147422 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:145147422A>G uc002tvu.2 - 10 3721 c.3241T>C c.(3241-3243)TGC>CGC p.C1081R ZEB2_uc002tvv.2_Missense_Mutation_p.C1075R|ZEB2_uc010zbm.1_Missense_Mutation_p.C1052R|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 1081 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCCGCTTGCAGTAGGAATAC 0.602 NA 47 73 0 0 0 0 MBD5 55777 broad.mit.edu 37 2 149240960 149240960 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:149240960C>G uc002twm.3 + 10 3788 c.2800C>G c.(2800-2802)CTA>GTA p.L934V MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.L934V|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 934 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) ACAGCATCTCCTAAACCAGAA 0.468 NA 116 219 0 0 0 0 TBR1 10716 broad.mit.edu 37 2 162273105 162273105 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:162273105C>G uc002ubw.1 + 1 486 c.184C>G c.(184-186)CAG>GAG p.Q62E TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GATGACGAATCAGTCAGATAC 0.493 NA 66 91 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170062967 170062967 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:170062967G>A uc002ues.2 - 39 7476 c.7263C>T c.(7261-7263)GTC>GTT p.V2421V NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2421 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTAGAGACATGACAGTTCTTT 0.413 NA 71 96 0 0 0 0 HOXD8 3234 broad.mit.edu 37 2 176995440 176995440 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:176995440C>A uc002uko.2 + 1 964 c.346C>A c.(346-348)CCG>ACG p.P116T uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Missense_Mutation_p.P116T NM_019558 NP_062458 P13378 HXD8_HUMAN homeobox D8 116 Poly-Pro. anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) tccgcatcctccgcctccgcc 0.507 NA 77 90 2.36e-25 3.19e-25 1 0 TTN 7273 broad.mit.edu 37 2 179427269 179427269 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:179427269G>A uc010zfg.1 - 275 76110 c.75886C>T c.(75886-75888)CCC>TCC p.P25296S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18991S|TTN_uc010zfi.1_Missense_Mutation_p.P18924S|TTN_uc010zfj.1_Missense_Mutation_p.P18799S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26223 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) GGTGGGAGGGGTGGTTCAGAC 0.448 NA 52 76 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179470333 179470333 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:179470333A>G uc010zfg.1 - 228 46209 c.45985T>C c.(45985-45987)TAT>CAT p.Y15329H uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y9024H|TTN_uc010zfi.1_Missense_Mutation_p.Y8957H|TTN_uc010zfj.1_Missense_Mutation_p.Y8832H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16256 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) TCAATGATATATCCTTGGATG 0.443 NA 76 133 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179583155 179583155 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:179583155G>T uc010zfg.1 - 82 21170 c.20946C>A c.(20944-20946)ACC>ACA p.T6982T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T3643T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7909 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) TTTCCAGTATGGTAGATTTTT 0.418 NA 49 62 2.13e-23 2.84e-23 1 0 C2orf88 84281 broad.mit.edu 37 2 191064816 191064816 + Nonsense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:191064816G>A uc002urq.2 + 3 609 c.230G>A c.(229-231)TGG>TAG p.W77* C2orf88_uc002urr.2_Nonsense_Mutation_p.W77*|C2orf88_uc002urs.2_Nonsense_Mutation_p.W77*|C2orf88_uc002urt.2_Nonsense_Mutation_p.W77* NM_001042521 NP_001035986 Q9BSF0 CB088_HUMAN hypothetical protein LOC84281 77 0 TTGCAGCAATGGGCATGCAAT 0.473 NA 130 204 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196659124 196659124 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:196659124T>A uc002utj.3 - 57 10755 c.10654A>T c.(10654-10656)ATT>TTT p.I3552F DNAH7_uc002uti.3_Missense_Mutation_p.I35F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3552 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TATGATCGAATGATATTAGCC 0.453 NA 71 95 0 0 0 0 MOBKL3 25843 broad.mit.edu 37 2 198413136 198413136 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:198413136G>T uc002uun.3 + 6 471 c.431G>T c.(430-432)AGC>ATC p.S144I MOBKL3_uc002uum.3_Missense_Mutation_p.S112I|MOBKL3_uc010fsn.2_Missense_Mutation_p.S123I|MOBKL3_uc010fso.2_Missense_Mutation_p.S45I|MOBKL3_uc010zgz.1_Missense_Mutation_p.S45I NM_015387 NP_056202 Q9Y3A3 MOBL3_HUMAN Mps One Binder kinase activator-like 3 isoform 144 transport Golgi cisterna membrane|perinuclear region of cytoplasm metal ion binding|protein binding 0 Epithelial(96;0.225) TATTTTCCCAGCAGGTAATCG 0.249 NA 49 78 2.82e-22 3.7e-22 1 0 ERBB4 2066 broad.mit.edu 37 2 212288906 212288906 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:212288906A>G uc002veg.1 - 23 2938 c.2840T>C c.(2839-2841)ATT>ACT p.I947T ERBB4_uc002veh.1_Missense_Mutation_p.I947T|ERBB4_uc010zji.1_Missense_Mutation_p.I937T|ERBB4_uc010zjj.1_Missense_Mutation_p.I937T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 947 Protein kinase.|Cytoplasmic (Potential). I->R: Constitutively autophosphorylated. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTAAACGTCAATAGTGCAGAT 0.388 NA TSP Lung(8;0.080) 70 105 0 0 0 0 CTDSP1 58190 broad.mit.edu 37 2 219267845 219267845 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:219267845G>A uc002vhy.2 + 5 802 c.466G>A c.(466-468)GCC>ACC p.A156T CTDSP1_uc002vhx.2_Missense_Mutation_p.A155T|CTDSP1_uc002vhz.2_Missense_Mutation_p.A15T NM_021198 NP_067021 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 156 FCP1 homology. protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding ovary(1) 1 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCTAGCCTCGCCAAGGTGAG 0.642 NA 51 73 0 0 0 0 WDFY1 57590 broad.mit.edu 37 2 224765920 224765920 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:224765920C>T uc002vnq.2 - 5 516 c.465G>A c.(463-465)ACG>ACA p.T155T NM_020830 NP_065881 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 155 WD 4. cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding lung(1) 1 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) AAGCCCAGGACGTGAAGAAGT 0.577 NA 50 75 0 0 0 0 DOCK10 55619 broad.mit.edu 37 2 225659685 225659685 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:225659685C>T uc010fwz.1 - 45 5304 c.5065G>A c.(5065-5067)GCA>ACA p.A1689T DOCK10_uc002vob.2_Missense_Mutation_p.A1683T|DOCK10_uc002voa.2_Missense_Mutation_p.A345T|DOCK10_uc002voc.2_Missense_Mutation_p.A543T NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1689 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TAGGAGTTTGCCAGGCTGTAC 0.517 NA 5 275 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227985813 227985813 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:227985813G>A uc010zlt.1 - 5 898 c.244C>T c.(244-246)CCA>TCA p.P82S NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 82 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATGGGTCCTGGGGCTCCCAGG 0.542 NA 59 72 0 0 0 0 DIS3L2 129563 broad.mit.edu 37 2 233198642 233198642 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:233198642G>A uc010fxz.2 + 17 2379 c.2103G>A c.(2101-2103)TCG>TCA p.S701S DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 701 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) ACTTCACCTCGCCCATCCGCC 0.667 NA 58 97 0 0 0 0 CHRND 1144 broad.mit.edu 37 2 233394727 233394727 + Missense_Mutation SNP G G T rs146416320 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:233394727G>T uc002vsw.2 + 7 702 c.698G>T c.(697-699)CGC>CTC p.R233L CHRND_uc010zmg.1_Missense_Mutation_p.R218L|CHRND_uc010fyc.2_Missense_Mutation_p.R106L|CHRND_uc010zmh.1_Intron NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 233 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AGCCCCAGCCGCCAGGACATC 0.617 NA 56 103 4.33e-36 6.22e-36 1 0 NGEF 25791 broad.mit.edu 37 2 233839522 233839522 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:233839522G>T uc002vts.2 - 2 327 c.79C>A c.(79-81)CCA>ACA p.P27T NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 27 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) ACCTTGGCTGGTTCATTATCA 0.443 NA 81 125 1.52e-23 2.03e-23 1 0 TRPM8 79054 broad.mit.edu 37 2 234904971 234904971 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:234904971T>G uc002vvh.2 + 22 2981 c.2941T>G c.(2941-2943)TAC>GAC p.Y981D TRPM8_uc010fyj.2_Missense_Mutation_p.Y559D|TRPM8_uc010fyk.2_RNA NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 981 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CCTCACCAGCTACACGGTGGG 0.512 NA 45 74 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238275541 238275541 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:238275541G>T uc002vwl.2 - 11 5574 c.5289C>A c.(5287-5289)AGC>AGA p.S1763R COL6A3_uc002vwo.2_Missense_Mutation_p.S1557R|COL6A3_uc010znj.1_Missense_Mutation_p.S1156R NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1763 VWFA 9.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGAGGGCCAGGCTCACATCCT 0.582 NA 48 56 2.43e-25 3.28e-25 1 0 COL6A3 1293 broad.mit.edu 37 2 238283363 238283363 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:238283363G>C uc002vwl.2 - 8 3656 c.3371C>G c.(3370-3372)GCG>GGG p.A1124G COL6A3_uc002vwo.2_Missense_Mutation_p.A918G|COL6A3_uc010znj.1_Missense_Mutation_p.A517G|COL6A3_uc002vwq.2_Missense_Mutation_p.A918G|COL6A3_uc002vwr.2_Missense_Mutation_p.A717G NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1124 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCTGCTTCCCGCAGAGCTGAC 0.647 NA 45 68 0 0 0 0 CAPN10 11132 broad.mit.edu 37 2 241533429 241533429 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:241533429G>T uc002vzk.1 + 5 979 c.795G>T c.(793-795)TGG>TGT p.W265C CAPN10_uc010zoh.1_Missense_Mutation_p.W265C|CAPN10_uc002vzl.1_Missense_Mutation_p.W265C|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.W137C|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 265 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) AGAACCCCTGGGGCCGGCGGT 0.692 NA 86 106 1.43e-44 2.11e-44 1 0 ANGPT4 51378 broad.mit.edu 37 20 870932 870932 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:870932G>C uc002wei.2 - 2 492 c.389C>G c.(388-390)CCC>CGC p.P130R ANGPT4_uc010zpn.1_Missense_Mutation_p.P124R NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 130 Potential. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 CTCTAGCATGGGGGCCGTCTG 0.607 NA 67 125 0 0 0 0 KIF16B 55614 broad.mit.edu 37 20 16486697 16486697 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:16486697C>A uc002wpg.1 - 8 996 c.838G>T c.(838-840)GTG>TTG p.V280L KIF16B_uc010gch.1_Missense_Mutation_p.V280L|KIF16B_uc010gci.1_Missense_Mutation_p.V280L|KIF16B_uc010gcj.1_Missense_Mutation_p.V280L NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 280 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CCCAGAGTCACGAGGGACTTG 0.512 NA 80 377 9.59e-39 1.39e-38 1 0 C20orf26 26074 broad.mit.edu 37 20 20177362 20177362 + Missense_Mutation SNP G G T rs115927004 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:20177362G>T uc002wru.2 + 16 1815 c.1739G>T c.(1738-1740)CGT>CTT p.R580L C20orf26_uc010zse.1_Missense_Mutation_p.R560L NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 580 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GAGATCCTGCGTTTAGGCTTT 0.483 NA 120 187 5.01e-73 7.68e-73 1 0 NKX2-4 644524 broad.mit.edu 37 20 21376612 21376612 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:21376612C>T uc010gcz.2 - 2 1012 c.1002G>A c.(1000-1002)GCG>GCA p.A334A NM_033176 NP_149416 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 334 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ccccggcggccgcgtccaggg 0.577 NA 17 11 0 0 0 0 PAX1 5075 broad.mit.edu 37 20 21687579 21687579 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:21687579G>T uc002wsj.2 + 2 844 c.790G>T c.(790-792)GGC>TGC p.G264C PAX1_uc010zsl.1_Missense_Mutation_p.G264C|PAX1_uc010zsm.1_Missense_Mutation_p.G240C NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 264 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 GTCGCCCACGGGCGCCAAGAT 0.697 NA 47 43 1.65e-34 2.36e-34 1 0 SSTR4 6754 broad.mit.edu 37 20 23016732 23016732 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:23016732C>A uc002wsr.2 + 1 676 c.612C>A c.(610-612)CAC>CAA p.H204Q NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 204 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGTGGCCACACCCGGCCTGGT 0.657 NA 37 107 1.01e-15 1.25e-15 1 0 GGTLC1 92086 broad.mit.edu 37 20 23966370 23966370 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:23966370C>T uc002wts.2 - 5 598 c.465G>A c.(463-465)GTG>GTA p.V155V GGTLC1_uc002wtu.2_Silent_p.V155V NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 155 gamma-glutamyltransferase activity ovary(1) 1 GGGGCTCCTCCACGGCCCACT 0.607 NA 161 125 0 0 0 0 CEP250 11190 broad.mit.edu 37 20 34092279 34092279 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:34092279G>A uc002xcm.2 + 31 6753 c.6082G>A c.(6082-6084)GAC>AAC p.D2028N CEP250_uc010zve.1_Missense_Mutation_p.D1396N NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 2028 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TGAGATCCAGGACCAGGATCT 0.607 NA 6 26 0 0 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060934 35060934 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:35060934G>A uc002xff.2 + 3 1249 c.814G>A c.(814-816)GCA>ACA p.A272T DLGAP4_uc010zvp.1_Missense_Mutation_p.A272T NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 272 Poly-Pro. cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACCCCCGCCCGCACCCCCAGC 0.627 NA 10 19 0 0 0 0 TGM2 7052 broad.mit.edu 37 20 36775222 36775222 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:36775222C>A uc002xhr.2 - 6 856 c.756G>T c.(754-756)ATG>ATT p.M252I TGM2_uc010zvx.1_Missense_Mutation_p.M171I|TGM2_uc010zvy.1_Missense_Mutation_p.M192I|TGM2_uc002xhs.1_Missense_Mutation_p.M228I|TGM2_uc002xht.2_Missense_Mutation_p.M252I|TGM2_uc002xhu.3_Missense_Mutation_p.M252I NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 252 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CGATCCAGGACATGGGGCTGA 0.657 NA 75 62 1.35e-34 1.93e-34 1 0 ACTR5 79913 broad.mit.edu 37 20 37395021 37395021 + Splice_Site SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:37395021G>A uc002xjd.2 + 7 1458 c.1433_splice c.e7+1 p.R478_splice NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) TTCTGGACAGGTGAGACAGCG 0.433 NA 362 140 0 0 0 0 YTHDF1 54915 broad.mit.edu 37 20 61833966 61833966 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:61833966C>A uc002yeh.2 - 4 1620 c.1326G>T c.(1324-1326)GGG>GGT p.G442G YTHDF1_uc011aaq.1_Silent_p.G392G NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 442 YTH. ovary(2) 2 AATGCCCACTCCCATTGACGC 0.607 NA 80 36 5.37e-22 7.01e-22 1 0 BAGE2 85319 broad.mit.edu 37 21 11058319 11058319 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr21:11058319C>T uc002yit.1 - 3 329 c.121G>A c.(121-123)GTG>ATG p.V41M BAGE_uc002yiw.1_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACAAAATGCACATCGCTGAAA 0.388 NA 25 253 0 0 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032693 46032693 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr21:46032693C>T uc002zfo.1 + 1 698 c.676C>T c.(676-678)CCC>TCC p.P226S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN keratin associated protein 10-8 226 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|breast(1) 2 tgtgcctgtcccctcctgttg 0.204 NA 62 73 0 0 0 0 USP18 11274 broad.mit.edu 37 22 18643000 18643000 + Missense_Mutation SNP C C A rs138144879 byFrequency TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr22:18643000C>A uc002zny.2 + 3 557 c.219C>A c.(217-219)TTC>TTA p.F73L NM_017414 NP_059110 Q9UMW8 UBP18_HUMAN ubiquitin specific protease 18 73 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1) 1 TTCAGGTGTTCGTAATGAATG 0.373 NA 260 31 2.6e-106 3.99e-106 1 0 APOL3 80833 broad.mit.edu 37 22 36541544 36541544 + Silent SNP G G A rs61731691 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr22:36541544G>A uc003aot.2 - 2 365 c.327C>T c.(325-327)TTC>TTT p.F109F APOL3_uc003aoq.2_Silent_p.F38F|APOL3_uc003aor.2_Silent_p.F38F|APOL3_uc003aos.2_Silent_p.F38F|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR NM_145640 NP_663615 O95236 APOL3_HUMAN apolipoprotein L3 isoform 1 109 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity 0 CCGCAGTCACGAATCTCTTCC 0.552 NA 50 105 0 0 0 0 LRRN1 57633 broad.mit.edu 37 3 3886403 3886403 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:3886403C>A uc003bpt.3 + 2 839 c.78C>A c.(76-78)TCC>TCA p.S26S SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 26 LRRNT.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CCGAGTCTTCCATACAGAATA 0.463 NA 59 19 4.1e-35 5.86e-35 1 0 PLCL2 23228 broad.mit.edu 37 3 17056221 17056221 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:17056221G>A uc011awc.1 + 6 2917 c.2812G>A c.(2812-2814)GAG>AAG p.E938K PLCL2_uc011awd.1_Missense_Mutation_p.E820K NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 946 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 GTCATTCAAGGAGCTGTGTGG 0.463 NA 173 43 0 0 0 0 EOMES 8320 broad.mit.edu 37 3 27763724 27763724 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:27763724G>T uc003cdx.2 - 1 62 c.62C>A c.(61-63)CCG>CAG p.P21Q EOMES_uc003cdy.3_Missense_Mutation_p.P21Q|EOMES_uc010hfn.2_Missense_Mutation_p.P21Q|EOMES_uc011axc.1_Intron NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 21 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 ACTCTCCAGCGGGTAGAAGTG 0.642 NA 6 2 0.00198382 0.00206833 1 0 LAMB2 3913 broad.mit.edu 37 3 49161040 49161040 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:49161040C>T uc003cwe.2 - 25 4121 c.3822G>A c.(3820-3822)GAG>GAA p.E1274E USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1274 Domain II.|Potential. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAGTCAGGTGCTCAGTGGCCT 0.557 NA 69 25 0 0 0 0 AMIGO3 386724 broad.mit.edu 37 3 49755619 49755619 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:49755619T>G uc003cxj.2 - 1 1620 c.1280A>C c.(1279-1281)CAA>CCA p.Q427P RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 427 Cytoplasmic (Potential). heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTCAGCTCTTGGAGCGGGCT 0.522 NA 74 27 0 0 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50421637 50421637 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:50421637G>A uc003daq.2 - 6 680 c.642C>T c.(640-642)ATC>ATT p.I214I CACNA2D2_uc003dap.2_Silent_p.I214I NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 214 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) AGCCTTTGTAGATGTCCGTAG 0.567 NA 219 70 0 0 0 0 FOXP1 27086 broad.mit.edu 37 3 71247394 71247394 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:71247394C>A uc003dol.2 - 2 462 c.139G>T c.(139-141)GGG>TGG p.G47W FOXP1_uc003dom.2_Missense_Mutation_p.G47W|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.G47W|FOXP1_uc003dop.2_Missense_Mutation_p.G47W|FOXP1_uc003doq.1_Missense_Mutation_p.G47W|FOXP1_uc003dos.2_Missense_Mutation_p.G47W NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 47 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCAGCTGCCCCGATGTCCACG 0.627 NA T PAX5 ALL 85 38 5e-47 7.46e-47 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433465 73433465 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:73433465T>C uc003dpl.1 - 10 2348 c.2252A>G c.(2251-2253)GAC>GGC p.D751G PDZRN3_uc011bgh.1_Missense_Mutation_p.D408G|PDZRN3_uc010hoe.1_Missense_Mutation_p.D449G|PDZRN3_uc011bgf.1_Missense_Mutation_p.D468G|PDZRN3_uc011bgg.1_Missense_Mutation_p.D471G NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 751 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCTGTCCTTGTCGGATTTCTC 0.617 NA 26 12 0 0 0 0 ROBO2 6092 broad.mit.edu 37 3 77666777 77666777 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:77666777G>A uc003dpy.3 + 22 4050 c.3407G>A c.(3406-3408)GGC>GAC p.G1136D ROBO2_uc003dpz.2_Missense_Mutation_p.G1140D|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G1140D|ROBO2_uc003dqa.2_Missense_Mutation_p.G263D NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1136 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCTGTTCGAGGCGTGGCTTCT 0.527 NA 85 21 0 0 0 0 EPHA3 2042 broad.mit.edu 37 3 89521722 89521722 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:89521722G>T uc003dqy.2 + 16 3024 c.2799G>T c.(2797-2799)ACG>ACT p.T933T EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 933 Cytoplasmic (Potential).|SAM. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AAATCTTCACGGGTGTGGAGT 0.413 NA TSP Lung(6;0.00050) 60 28 1.32e-49 1.98e-49 1 0 NSUN3 63899 broad.mit.edu 37 3 93783304 93783304 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:93783304G>T uc003drl.1 + 2 152 c.36G>T c.(34-36)AAG>AAT p.K12N DHFRL1_uc003dri.2_5'Flank|DHFRL1_uc003drj.2_5'Flank NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 12 methyltransferase activity skin(1) 1 CAGAGGGGAAGCTTGCAAAAC 0.358 NA 30 105 2.82e-10 3.31e-10 1 0 NSUN3 63899 broad.mit.edu 37 3 93783306 93783306 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:93783306T>A uc003drl.1 + 2 154 c.38T>A c.(37-39)CTT>CAT p.L13H DHFRL1_uc003dri.2_5'Flank|DHFRL1_uc003drj.2_5'Flank NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 13 methyltransferase activity skin(1) 1 GAGGGGAAGCTTGCAAAACAG 0.363 NA 30 104 0 0 0 0 EPHA6 285220 broad.mit.edu 37 3 96706794 96706794 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:96706794C>T uc010how.1 + 3 1114 c.1071C>T c.(1069-1071)TGC>TGT p.C357C EPHA6_uc003drp.1_Silent_p.C357C NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 262 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TTGGAAGGTGCATCTGCAGTA 0.383 NA 57 207 0 0 0 0 FILIP1L 11259 broad.mit.edu 37 3 99567165 99567165 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:99567165G>A uc003dtm.2 - 5 3818 c.3355C>T c.(3355-3357)CCT>TCT p.P1119S C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.P1119S|FILIP1L_uc010hpf.2_Missense_Mutation_p.P695S|FILIP1L_uc010hpg.2_Missense_Mutation_p.P879S|FILIP1L_uc003dtn.2_Missense_Mutation_p.P879S|FILIP1L_uc003dtp.1_Missense_Mutation_p.P879S NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 1119 cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 CGAGGAAGAGGTGTGGCTGTT 0.413 NA 75 258 0 0 0 0 GPR128 84873 broad.mit.edu 37 3 100349615 100349615 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:100349615G>T uc003duc.2 + 3 564 c.296G>T c.(295-297)GGA>GTA p.G99V NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 99 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 GGCAGATATGGACCATCCTTG 0.348 NA 88 107 5.34e-38 7.71e-38 1 0 GPR128 84873 broad.mit.edu 37 3 100373869 100373869 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:100373869C>A uc003duc.2 + 12 1838 c.1570C>A c.(1570-1572)CCC>ACC p.P524T GPR128_uc011bhc.1_Missense_Mutation_p.P225T|GPR128_uc003dud.2_Missense_Mutation_p.P47T NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 524 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 CATCCCGAATCCCATGTGCAC 0.423 NA 286 380 2.3e-82 3.52e-82 1 0 CEP97 79598 broad.mit.edu 37 3 101477063 101477063 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:101477063C>G uc003dvk.1 + 9 1640 c.1613C>G c.(1612-1614)CCC>CGC p.P538R CEP97_uc010hpm.1_Missense_Mutation_p.P504R|CEP97_uc011bhf.1_Missense_Mutation_p.P479R|CEP97_uc003dvl.1_Missense_Mutation_p.P234R|CEP97_uc003dvm.1_Missense_Mutation_p.P376R NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 538 CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 GAGAAACTTCCCATGATTTTA 0.418 NA 90 349 0 0 0 0 MYH15 22989 broad.mit.edu 37 3 108159997 108159997 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:108159997C>T uc003dxa.1 - 24 2883 c.2826G>A c.(2824-2826)GAG>GAA p.E942E NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 942 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 AATTTATCTCCTCTTCTTCCT 0.478 NA 83 256 0 0 0 0 PLSCR5 389158 broad.mit.edu 37 3 146309588 146309588 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:146309588G>T uc003ewb.2 - 5 1538 c.534C>A c.(532-534)ATC>ATA p.I178I PLSCR5_uc010hvb.2_Silent_p.I166I|PLSCR5_uc010hvc.2_Silent_p.I178I NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 178 0 TTGCATTTTGGATTGTGAATT 0.388 NA 61 26 2.23e-26 3.03e-26 1 0 ZIC1 7545 broad.mit.edu 37 3 147128064 147128064 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:147128064G>C uc003ewe.2 + 1 884 c.165G>C c.(163-165)GAG>GAC p.E55D NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 55 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTTCGCACGAGCTGGCTTCGG 0.711 NA 89 50 0 0 0 0 FAM194A 131831 broad.mit.edu 37 3 150400034 150400034 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:150400034C>A uc003eyg.2 - 7 910 c.853G>T c.(853-855)GTG>TTG p.V285L FAM194A_uc003eyh.2_Missense_Mutation_p.V139L NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 285 skin(2)|ovary(1) 3 GAAACATCCACATTAGAAAAA 0.358 NA 88 123 2.01e-38 2.92e-38 1 0 GPR149 344758 broad.mit.edu 37 3 154146445 154146445 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:154146445G>T uc003faa.2 - 1 1060 c.960C>A c.(958-960)GTC>GTA p.V320V NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 320 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCCAAAGGACGACTTTTGTAA 0.567 NA 229 311 4.77e-124 7.34e-124 1 0 SI 6476 broad.mit.edu 37 3 164786619 164786619 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:164786619C>G uc003fei.2 - 5 436 c.374G>C c.(373-375)GGA>GCA p.G125A NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 125 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGCTTCAACTCCTTAAAGAAT 0.303 NA HNSCC(35;0.089) 5 253 0 0 0 0 PDCD10 11235 broad.mit.edu 37 3 167437849 167437849 + Splice_Site SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:167437849C>T uc003fex.2 - 3 494 c.96_splice c.e3+1 p.E32_splice PDCD10_uc003fez.2_Splice_Site_p.E32_splice|PDCD10_uc003fey.2_Splice_Site_p.E32_splice NM_007217 NP_009148 Q9BUL8 PDC10_HUMAN programmed cell death 10 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding lung(1)|central_nervous_system(1) 2 ACCCAACTCACCTCATTAAAC 0.343 NA Familial_Cerebral_Cavernous_Angioma 57 208 0 0 0 0 USP13 8975 broad.mit.edu 37 3 179472519 179472519 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:179472519G>T uc003fkh.2 + 15 1880 c.1799_splice c.e15-1 p.D600_splice USP13_uc003fkf.2_Intron NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TCATTTTGCAGATGTTTCTAT 0.448 NA 89 293 1.54e-61 2.35e-61 1 0 VPS8 23355 broad.mit.edu 37 3 184675175 184675175 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:184675175G>T uc003fpb.1 + 36 3214 c.3043G>T c.(3043-3045)GTA>TTA p.V1015L VPS8_uc010hyd.1_Missense_Mutation_p.V925L|VPS8_uc010hye.1_Missense_Mutation_p.V444L NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1017 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AGGTATTCATGTAAATCAAGA 0.333 NA 9 60 3.1e-07 3.48e-07 1 0 CCDC50 152137 broad.mit.edu 37 3 191078925 191078925 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:191078925C>T uc003fsw.2 + 4 897 c.307C>T c.(307-309)CGC>TGC p.R103C CCDC50_uc003fsv.2_Missense_Mutation_p.R103C NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 103 Potential. cytoplasm protein binding 0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) AGAGAGACGACGCATTCAGGA 0.433 NA 31 171 0 0 0 0 CPN2 1370 broad.mit.edu 37 3 194063363 194063363 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:194063363G>T uc003fts.2 - 2 159 c.69C>A c.(67-69)CCC>CCA p.P23P NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 23 LRRNT. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CACAACCCATGGGACAGGGCT 0.582 NA 237 88 6.36e-115 9.78e-115 1 0 MUC4 4585 broad.mit.edu 37 3 195505813 195505814 + Missense_Mutation DNP TC TC CT TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:195505813_195505814TC>CT uc011bto.1 - 3 12713_12714 c.12253_12254GA>AG c.(12253-12255)GAC>AGC p.D4085S MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGAAGTGTCGGTGACAGGA 0.594 NA 4 26 0 0 0 0 UBXN7 26043 broad.mit.edu 37 3 196098827 196098827 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:196098827G>A uc003fwm.3 - 6 630 c.555C>T c.(553-555)CGC>CGT p.R185R UBXN7_uc003fwn.3_Silent_p.R37R|UBXN7_uc010iae.2_Silent_p.R23R NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 185 protein binding ovary(2)|pancreas(1) 3 TCCACACATCGCGGTTGAGGC 0.413 NA 91 333 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20543121 20543121 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:20543121G>T uc003gpr.1 + 20 2226 c.2022G>T c.(2020-2022)TGG>TGT p.W674C SLIT2_uc003gps.1_Missense_Mutation_p.W666C NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 674 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ACCTGGCTTGGTTGGGAGAGT 0.458 NA 46 11 1.11e-35 1.59e-35 1 0 SLIT2 9353 broad.mit.edu 37 4 20555507 20555507 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:20555507C>T uc003gpr.1 + 26 2845 c.2641C>T c.(2641-2643)CCT>TCT p.P881S SLIT2_uc003gps.1_Missense_Mutation_p.P873S NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 881 LRRCT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ATATAAGGAGCCTGGAATTGC 0.428 NA 98 12 0 0 0 0 GABRA2 2555 broad.mit.edu 37 4 46252334 46252334 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:46252334G>A uc003gxc.3 - 9 2020 c.1347C>T c.(1345-1347)GTC>GTT p.V449V GABRA2_uc010igc.2_Silent_p.V449V|GABRA2_uc011bzc.1_Silent_p.V454V NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 449 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCAAGGACTGACCCCTAATA 0.338 NA 70 23 0 0 0 0 GABRA4 2557 broad.mit.edu 37 4 46930523 46930523 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:46930523C>G uc003gxg.2 - 9 1523 c.1384G>C c.(1384-1386)GGA>CGA p.G462R NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 462 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGCATATATCCAGTTCGGATA 0.473 NA 68 18 0 0 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978432 69978432 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:69978432C>A uc003heg.3 + 6 1614 c.1568C>A c.(1567-1569)GCA>GAA p.A523E UGT2B7_uc010ihq.2_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 523 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 GCTAGAAAAGCAAAGAAGGGA 0.378 NA 48 25 1.67e-32 2.35e-32 1 0 UGT2B4 7363 broad.mit.edu 37 4 70352383 70352383 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:70352383T>A uc003hek.3 - 4 1081 c.1034A>T c.(1033-1035)GAT>GTT p.D345V UGT2B4_uc011cap.1_Missense_Mutation_p.D209V|UGT2B4_uc003hel.3_Missense_Mutation_p.D345V NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 345 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TCCTAAAGTATCTGGTTTATT 0.348 NA 102 40 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123207877 123207877 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:123207877A>G uc003ieh.2 + 51 9264 c.9219A>G c.(9217-9219)ATA>ATG p.I3073M KIAA1109_uc003iel.1_Missense_Mutation_p.I1008M NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3073 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TGTGGAGTATAGATGAACTGC 0.378 NA 66 23 0 0 0 0 SPATA5 166378 broad.mit.edu 37 4 123868598 123868598 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:123868598C>T uc003iez.3 + 9 1742 c.1669C>T c.(1669-1671)CAT>TAT p.H557Y SPATA5_uc003iey.2_Missense_Mutation_p.H556Y NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 557 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 AAATAGTGCTCATGGATACGT 0.478 NA 70 26 0 0 0 0 FGA 2243 broad.mit.edu 37 4 155507095 155507095 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:155507095C>A uc003iod.1 - 5 1544 c.1486G>T c.(1486-1488)GAT>TAT p.D496Y FGA_uc003ioe.1_Missense_Mutation_p.D496Y|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 496 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GTGCCTAAATCCATTGCCTCG 0.473 NA 87 33 9.37e-40 1.36e-39 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156632328 156632328 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:156632328G>T uc003iov.2 + 7 1547 c.1011G>T c.(1009-1011)GGG>GGT p.G337G GUCY1A3_uc003iou.2_Silent_p.G337G|GUCY1A3_uc010iqc.2_Silent_p.G337G|GUCY1A3_uc003iow.2_Silent_p.G337G|GUCY1A3_uc010iqd.2_Silent_p.G336G|GUCY1A3_uc003iox.2_Silent_p.G337G|GUCY1A3_uc003ioz.2_Silent_p.G102G|GUCY1A3_uc003ioy.2_Silent_p.G337G|GUCY1A3_uc010iqe.2_Silent_p.G102G|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.G337G NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 337 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CGTTTAGCGGGATCATGACTA 0.383 NA 73 30 2.93e-43 4.32e-43 1 0 ACCN5 51802 broad.mit.edu 37 4 156752976 156752976 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:156752976C>A uc003ipe.1 - 9 1374 c.1327G>T c.(1327-1329)GCA>TCA p.A443S NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 443 Extracellular (Potential). A->F,T: Activates the channel.|A->C: Slightly activates the channel. integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) TAACACTTACCAAGTAACTCA 0.224 NA 54 26 2.7e-35 3.86e-35 1 0 ACCN5 51802 broad.mit.edu 37 4 156764923 156764923 + Missense_Mutation SNP G G C rs145138118 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:156764923G>C uc003ipe.1 - 5 818 c.771C>G c.(769-771)ATC>ATG p.I257M NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 257 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) TTGGTGAATGGATAACAAAGA 0.443 NA 43 19 0 0 0 0 GRIA2 2891 broad.mit.edu 37 4 158262467 158262467 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:158262467C>T uc003ipm.3 + 12 2355 c.1896C>T c.(1894-1896)ATC>ATT p.I632I GRIA2_uc011cit.1_Silent_p.I585I|GRIA2_uc003ipl.3_Silent_p.I632I|GRIA2_uc003ipk.3_Silent_p.I585I|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 632 Helical; (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TTACCCTGATCATAATCTCCT 0.433 NA 154 58 0 0 0 0 ADAM29 11086 broad.mit.edu 37 4 175896743 175896743 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:175896743G>T uc003iuc.2 + 5 737 c.67G>T c.(67-69)GAG>TAG p.E23* ADAM29_uc003iud.2_Nonsense_Mutation_p.E23*|ADAM29_uc010irr.2_Nonsense_Mutation_p.E23*|ADAM29_uc011cki.1_Nonsense_Mutation_p.E23* NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 23 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CATCCAGGATGAGCACCCCCA 0.498 NA 63 20 7.56e-43 1.11e-42 1 0 FAT1 2195 broad.mit.edu 37 4 187630465 187630465 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:187630465C>G uc003izf.2 - 2 705 c.517G>C c.(517-519)GCC>CCC p.A173P FAT1_uc010iso.1_Missense_Mutation_p.A173P NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 173 Extracellular (Potential).|Cadherin 2. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GCATCCGTGGCGCTGACTCTT 0.438 NA HNSCC(5;0.00058) 137 35 0 0 0 0 ZFP42 132625 broad.mit.edu 37 4 188924029 188924029 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:188924029G>T uc003izg.1 + 3 313 c.68G>T c.(67-69)AGT>ATT p.S23I ZFP42_uc003izh.1_Missense_Mutation_p.S23I|ZFP42_uc003izi.1_Missense_Mutation_p.S23I NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 23 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AGAGCCCCCAGTGGGGCTAAG 0.547 NA 50 15 3.22e-24 4.32e-24 1 0 SEMA5A 9037 broad.mit.edu 37 5 9052125 9052125 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:9052125C>T uc003jek.2 - 20 3417 c.2705G>A c.(2704-2706)TGG>TAG p.W902* NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 902 Extracellular (Potential).|TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CCAGTCCGACCACTCCGACCA 0.587 NA 16 46 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11346684 11346684 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:11346684G>T uc003jfa.1 - 9 1573 c.1428C>A c.(1426-1428)CAC>CAA p.H476Q CTNND2_uc010itt.2_Missense_Mutation_p.H385Q|CTNND2_uc011cmy.1_Missense_Mutation_p.H139Q|CTNND2_uc011cmz.1_Missense_Mutation_p.H43Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.H43Q NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 476 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TCTGTGGGCCGTGCTGGCTGC 0.617 NA 46 98 3.68e-32 5.17e-32 1 0 DNAH5 1767 broad.mit.edu 37 5 13752361 13752361 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:13752361A>G uc003jfd.2 - 64 10952 c.10910T>C c.(10909-10911)CTG>CCG p.L3637P DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3637 AAA 5 (By similarity). 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) GCTGTCTTCCAGGTGGTTTCT 0.403 NA Kartagener_syndrome 69 147 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13841950 13841950 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:13841950C>G uc003jfd.2 - 33 5377 c.5335G>C c.(5335-5337)GTC>CTC p.V1779L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1779 Stem (By similarity). 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) TCTGCCATGACAGGTTTATCC 0.383 NA Kartagener_syndrome 49 183 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13894843 13894843 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:13894843C>A uc003jfd.2 - 16 2389 c.2347G>T c.(2347-2349)GAA>TAA p.E783* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 783 Potential.|Stem (By similarity). 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) TGGAGAGCTTCATCCACTTTG 0.423 NA Kartagener_syndrome 98 209 9.47e-33 1.34e-32 1 0 FBXL7 23194 broad.mit.edu 37 5 15936859 15936859 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:15936859A>T uc003jfn.1 + 4 1521 c.1040A>T c.(1039-1041)AAG>ATG p.K347M NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 347 LRR 7. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 GAGATCGCCAAGCTGGAGTCC 0.657 NA 22 12 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23526959 23526959 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:23526959G>C uc003jgo.2 + 11 1944 c.1762G>C c.(1762-1764)GGC>CGC p.G588R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 588 C2H2-type 4. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GTGTGGGCGGGGCTTTAGCTG 0.607 NA HNSCC(3;0.000094) 46 157 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24505268 24505268 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:24505268C>A uc003jgr.1 - 8 1678 c.1346G>T c.(1345-1347)CGT>CTT p.R449L CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 449 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGATAGTTCACGGTCAAGAGG 0.328 NA HNSCC(23;0.051) 31 105 4.03e-09 4.64e-09 1 0 PDZD2 23037 broad.mit.edu 37 5 31983279 31983279 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:31983279C>T uc003jhl.2 + 3 883 c.495C>T c.(493-495)TGC>TGT p.C165C PDZD2_uc003jhm.2_Silent_p.C165C|PDZD2_uc011cnx.1_5'UTR NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 165 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CTGAGCAGTGCTGGAATGGCG 0.527 NA 49 151 0 0 0 0 ZFR 51663 broad.mit.edu 37 5 32420208 32420208 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:32420208G>T uc003jhr.1 - 3 218 c.138C>A c.(136-138)AGC>AGA p.S46R ZFR_uc010iun.1_Missense_Mutation_p.S46R NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 46 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) CTGGCTGCTGGCTACATTGTG 0.398 NA 10 33 2.18e-05 2.36e-05 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33588885 33588885 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:33588885G>T uc003jia.1 - 18 2847 c.2684C>A c.(2683-2685)TCG>TAG p.S895* ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.S810* NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 895 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GCATGTCGCCGAGCATGCTTC 0.582 NA HNSCC(64;0.19) OREG0016553 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 115 5.34e-22 6.99e-22 1 0 NIPBL 25836 broad.mit.edu 37 5 37064663 37064663 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:37064663C>T uc003jkl.3 + 47 8583 c.8084C>T c.(8083-8085)ACG>ATG p.T2695M NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2695 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TCAGACTCTACGGAGTTGGCA 0.393 NA 107 240 0 0 0 0 C5orf34 375444 broad.mit.edu 37 5 43502545 43502545 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:43502545C>A uc003jnz.1 - 7 1398 c.1081G>T c.(1081-1083)GTT>TTT p.V361F NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 361 breast(1) 1 Lung NSC(6;2.07e-05) GATTTGAAAACAGATCCATCC 0.308 NA 74 204 1.74e-33 2.47e-33 1 0 PARP8 79668 broad.mit.edu 37 5 50128662 50128662 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:50128662A>G uc003jon.3 + 24 2463 c.2281A>G c.(2281-2283)AGC>GGC p.S761G PARP8_uc011cpz.1_Missense_Mutation_p.S653G|PARP8_uc003joo.2_Missense_Mutation_p.S761G|PARP8_uc003jop.2_Missense_Mutation_p.S719G NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 761 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) GCCAGCTTCAAGCAGTAAAAG 0.438 NA 30 8 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89938711 89938711 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:89938711G>T uc003kju.2 + 13 2502 c.2406G>T c.(2404-2406)AGG>AGT p.R802S GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 802 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCGATCAAGGGGGTCCCTTG 0.403 NA 92 25 1.04e-46 1.55e-46 1 0 CHSY3 337876 broad.mit.edu 37 5 129520379 129520379 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:129520379G>T uc003kvd.2 + 3 1544 c.1544G>T c.(1543-1545)CGG>CTG p.R515L NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 515 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AGCAGAGGACGGCTCATTGAC 0.468 NA 36 12 1.59e-26 2.16e-26 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140723683 140723683 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:140723683C>G uc003ljm.1 + 1 83 c.83C>G c.(82-84)TCC>TGC p.S28C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Translation_Start_Site|PCDHGA3_uc011dap.1_Missense_Mutation_p.S28C NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 28 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAACAGGATCCGGTCAGATC 0.587 NA OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 194 70 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150924598 150924598 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:150924598C>T uc003lue.3 - 9 6103 c.6090G>A c.(6088-6090)CGG>CGA p.R2030R GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2030 Extracellular (Potential).|Cadherin 17. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGCTGCTCCCGGTCAAACG 0.512 NA 96 29 0 0 0 0 CCNJL 79616 broad.mit.edu 37 5 159680601 159680601 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:159680601G>A uc003lyb.1 - 7 1344 c.1092C>T c.(1090-1092)CAC>CAT p.H364H CCNJL_uc011dee.1_Silent_p.H316H|CCNJL_uc003lyc.1_RNA NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 364 nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCCTGAACGGTGGGCCTGCA 0.662 NA 51 18 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 160115002 160115002 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:160115002G>A uc003lym.1 - 5 927 c.80C>T c.(79-81)ACC>ATC p.T27I ATP10B_uc003lyp.2_Missense_Mutation_p.T27I|ATP10B_uc011deg.1_Missense_Mutation_p.T71I|ATP10B_uc003lyo.2_5'Flank NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 27 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCGGTGTGGTTTCCGATGG 0.547 NA 63 29 0 0 0 0 RNF44 22838 broad.mit.edu 37 5 175956289 175956289 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:175956289C>A uc003mek.1 - 10 1761 c.1236G>T c.(1234-1236)AAG>AAT p.K412N RNF44_uc011dfo.1_Missense_Mutation_p.K320N|RNF44_uc003mel.1_Missense_Mutation_p.K101N NM_014901 NP_055716 Q7L0R7 RNF44_HUMAN ring finger protein 44 412 RING-type; atypical. zinc ion binding 0 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGTGTTACCTTCAACCACT 0.582 NA 43 17 1.32e-16 1.65e-16 1 0 EXOC2 55770 broad.mit.edu 37 6 617752 617752 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:617752C>G uc003mtd.2 - 6 754 c.620G>C c.(619-621)GGC>GCC p.G207A EXOC2_uc003mte.2_Missense_Mutation_p.G207A|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 207 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) ACTGAGACCGCCTTTCACATA 0.517 NA 65 63 0 0 0 0 SYCP2L 221711 broad.mit.edu 37 6 10899058 10899058 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:10899058T>C uc003mzo.2 + 6 739 c.443T>C c.(442-444)ATT>ACT p.I148T SYCP2L_uc011din.1_5'UTR|SYCP2L_uc010jow.2_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 148 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TTTTGTTAGATTATTTCCAGG 0.289 NA 88 31 0 0 0 0 LRRC16A 55604 broad.mit.edu 37 6 25420376 25420376 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:25420376C>T uc011djw.1 + 3 549 c.173C>T c.(172-174)GCG>GTG p.A58V LRRC16A_uc010jpx.2_Missense_Mutation_p.A58V|LRRC16A_uc010jpy.2_Missense_Mutation_p.A58V NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 58 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 CTTGTAACAGCGCGAATCCCC 0.483 NA 8 234 0 0 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107832 26107832 + Missense_Mutation SNP C C G rs148167379 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:26107832C>G uc003ngj.2 - 1 533 c.490G>C c.(490-492)GTT>CTT p.V164L NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 164 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 CCGCTCCTAACAGTTTTAGGA 0.483 NA 155 229 0 0 0 0 TRIM27 5987 broad.mit.edu 37 6 28876602 28876602 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:28876602T>A uc003nlr.2 - 6 1261 c.902A>T c.(901-903)GAT>GTT p.D301V TRIM27_uc003nls.2_Missense_Mutation_p.D301V|TRIM27_uc003nlt.1_Missense_Mutation_p.D301V NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 301 Potential.|B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 TTTCTCCATATCTGACTGCAT 0.368 NA T RET papillary thyroid 24 10 0 0 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283758 33283758 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:33283758C>A uc003oeb.2 - 2 1088 c.936G>T c.(934-936)CTG>CTT p.L312L TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.L312L NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTGGGGAACCAGGGGTGTTG 0.567 NA 48 104 7.77e-23 1.03e-22 1 0 DNAH8 1769 broad.mit.edu 37 6 38840416 38840416 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:38840416C>T uc003ooe.1 + 48 7044 c.6444C>T c.(6442-6444)TGC>TGT p.C2148C 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 AAACAGAATGCGGAAGGCCTC 0.483 NA 66 106 0 0 0 0 KCNK17 89822 broad.mit.edu 37 6 39272355 39272355 + Silent SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:39272355G>C uc003ooo.2 - 3 569 c.429C>G c.(427-429)CTC>CTG p.L143L KCNK17_uc003oop.2_Silent_p.L143L NM_031460 NP_113648 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 143 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 CCACGAGGTTGAGTGGGATCC 0.637 NA 91 172 0 0 0 0 UBR2 23304 broad.mit.edu 37 6 42637959 42637959 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:42637959G>T uc011dur.1 + 35 4011 c.4011G>T c.(4009-4011)GCG>GCT p.A1337A UBR2_uc011dus.1_Silent_p.A982A|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 1337 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GTAGCTGCGCGTACACCATCC 0.408 NA 69 91 2.27e-38 3.28e-38 1 0 PKHD1 5314 broad.mit.edu 37 6 51890864 51890864 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:51890864C>T uc003pah.1 - 32 4020 c.3744G>A c.(3742-3744)TGG>TGA p.W1248* PKHD1_uc003pai.2_Nonsense_Mutation_p.W1248* NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1248 Extracellular (Potential).|IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GGGTTTCACACCAGATGCTCG 0.597 NA 44 57 0 0 0 0 GSTA3 2940 broad.mit.edu 37 6 52762651 52762651 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:52762651C>T uc003pbb.2 - 6 597 c.518G>A c.(517-519)AGC>AAC p.S173N GSTA3_uc010jzq.2_Missense_Mutation_p.S117N NM_000847 NP_000838 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 173 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity 0 Lung NSC(77;0.0912) Glutathione(DB00143) GGAGATAAGGCTGGAGTCAAG 0.522 NA 77 128 0 0 0 0 GFRAL 389400 broad.mit.edu 37 6 55216213 55216213 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:55216213T>A uc003pcm.1 + 5 619 c.533T>A c.(532-534)ATA>AAA p.I178K NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 178 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TATCAAAATATACCTTTTAAC 0.428 NA 164 222 0 0 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55441888 55441888 + Silent SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:55441888A>C uc003pcn.2 - 2 345 c.186T>G c.(184-186)GCT>GCG p.A62A HMGCLL1_uc003pco.2_Intron|HMGCLL1_uc010jzx.2_Intron|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 62 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) agtggatacaagccaccgtgc 0 NA 14 21 0 0 0 0 PHIP 55023 broad.mit.edu 37 6 79679576 79679576 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:79679576C>A uc003pir.2 - 27 3407 c.3181G>T c.(3181-3183)GCA>TCA p.A1061S PHIP_uc003piq.2_Missense_Mutation_p.A85S|PHIP_uc011dyp.1_Missense_Mutation_p.A1060S NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1061 Mediates interaction with IRS1 (By similarity). insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTGTATTTTGCATCATCAAAT 0.308 NA 21 37 3.1e-05 3.35e-05 1 0 SNX14 57231 broad.mit.edu 37 6 86235871 86235871 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:86235871C>T uc003pkr.2 - 21 2273 c.2080G>A c.(2080-2082)GAT>AAT p.D694N SNX14_uc003pkp.2_Missense_Mutation_p.D557N|SNX14_uc003pkq.2_Missense_Mutation_p.D300N|SNX14_uc011dzg.1_Missense_Mutation_p.D642N|SNX14_uc003pks.2_Missense_Mutation_p.D641N|SNX14_uc003pkt.2_Missense_Mutation_p.D685N NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 694 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) AGTATCTTATCAAGAAATTGT 0.323 NA 12 24 0 0 0 0 ZNF292 23036 broad.mit.edu 37 6 87928449 87928449 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:87928449G>C uc003plm.3 + 4 579 c.538G>C c.(538-540)GTG>CTG p.V180L ZNF292_uc003pll.1_Missense_Mutation_p.G180R NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAAGGATAAAGGTAAATTTTC 0.328 NA 6 8 0 0 0 0 GJA10 84694 broad.mit.edu 37 6 90604608 90604608 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:90604608C>T uc011eaa.1 + 1 421 c.421C>T c.(421-423)CAG>TAG p.Q141* NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 141 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GTTAGAGGAGCAGAAGAGGAT 0.463 NA 49 72 0 0 0 0 LIN28B 389421 broad.mit.edu 37 6 105406115 105406115 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:105406115G>A uc003pqv.1 + 2 355 c.152G>A c.(151-153)CGA>CAA p.R51Q LIN28B_uc010kda.1_Missense_Mutation_p.R11Q NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN lin-28 homolog B 51 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding 0 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) ATGATAAACCGAGAGGGAAGC 0.498 NA 99 154 0 0 0 0 DDO 8528 broad.mit.edu 37 6 110714170 110714170 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:110714170C>T uc003puc.2 - 5 922 c.918G>A c.(916-918)AGG>AGA p.R306R C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.R247R NM_003649 NP_003640 Q99489 OXDD_HUMAN D-aspartate oxidase isoform a 278 Substrate (By similarity). R -> S (in Ref. 2; BAF85718). aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity ovary(2)|breast(1) 3 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GCCTGTAGGGCCTCAAGCCCA 0.607 NA 138 221 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112443312 112443312 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:112443312G>A uc003pvu.2 - 32 4689 c.4380C>T c.(4378-4380)TCC>TCT p.S1460S LAMA4_uc003pvv.2_Silent_p.S1453S|LAMA4_uc003pvt.2_Silent_p.S1453S NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1460 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TAGGGCTGTTGGAAAGGTGGC 0.453 NA 80 115 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119338048 119338048 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:119338048T>C uc003pyj.2 - 5 1742 c.1394A>G c.(1393-1395)CAA>CGA p.Q465R FAM184A_uc003pyk.3_Missense_Mutation_p.Q345R|FAM184A_uc003pyl.3_Missense_Mutation_p.Q345R NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 465 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 CAATCTACTTTGCAGGTTTTT 0.373 NA 54 81 0 0 0 0 THEMIS 387357 broad.mit.edu 37 6 128040968 128040968 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:128040968G>T uc003qbi.2 - 6 2078 c.1759C>A c.(1759-1761)CGT>AGT p.R587S THEMIS_uc010kfa.2_Missense_Mutation_p.R490S|THEMIS_uc011ebt.1_Missense_Mutation_p.R626S|THEMIS_uc010kfb.2_Missense_Mutation_p.R552S NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 587 negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 ACGTGATGACGCTGAAATGAC 0.368 NA 74 81 2.51e-31 3.51e-31 1 0 LAMA2 3908 broad.mit.edu 37 6 129775417 129775417 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:129775417C>A uc003qbn.2 + 46 6796 c.6691C>A c.(6691-6693)CGT>AGT p.R2231S LAMA2_uc003qbo.2_Missense_Mutation_p.R2231S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2231 Laminin G-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATATTGGTACCGTATCGTAGC 0.363 NA 47 46 2.82e-22 3.7e-22 1 0 SAMD3 154075 broad.mit.edu 37 6 130465774 130465774 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:130465774G>T uc003qbv.2 - 13 1780 c.1454C>A c.(1453-1455)TCC>TAC p.S485Y SAMD3_uc003qbx.2_Missense_Mutation_p.S485Y|SAMD3_uc003qbw.2_Missense_Mutation_p.S485Y NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 485 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GAAAGTTTGGGACAGTCTTCT 0.438 NA 63 100 7.56e-43 1.11e-42 1 0 TMEM200A 114801 broad.mit.edu 37 6 130762115 130762115 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:130762115G>T uc003qca.2 + 3 1419 c.548G>T c.(547-549)GGC>GTC p.G183V TMEM200A_uc010kfh.2_Missense_Mutation_p.G183V|TMEM200A_uc010kfi.2_Missense_Mutation_p.G183V|TMEM200A_uc003qcb.2_Missense_Mutation_p.G183V NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 183 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CAAATGAACGGCATGTACACT 0.443 NA 49 62 4.11e-27 5.62e-27 1 0 TXLNB 167838 broad.mit.edu 37 6 139576740 139576740 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:139576740C>T uc011eds.1 - 7 1203 c.1038G>A c.(1036-1038)GCG>GCA p.A346A NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 346 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TCAGCACTTTCGCCTGAAGTT 0.512 NA 61 80 0 0 0 0 UTRN 7402 broad.mit.edu 37 6 144843114 144843114 + Splice_Site SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:144843114A>G uc003qkt.2 + 39 5634 c.5542_splice c.e39-2 p.A1848_splice NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTGTTTTTGTAGGCAATCCCT 0.289 NA 3 150 0 0 0 0 MYCT1 80177 broad.mit.edu 37 6 153043144 153043144 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:153043144C>G uc003qpd.3 + 2 472 c.464C>G c.(463-465)TCC>TGC p.S155C MYCT1_uc010kjc.1_Missense_Mutation_p.S107C|MYCT1_uc003qpc.3_Missense_Mutation_p.S155C NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 155 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CAAGCAAATTCCTTTCCAAGA 0.498 NA 76 121 0 0 0 0 TMEM181 57583 broad.mit.edu 37 6 159052421 159052421 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:159052421G>T uc003qrm.3 + 16 1771 c.1760G>T c.(1759-1761)GGG>GTG p.G587V NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 587 pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) GTGATTTATGGGTAAGTCCCT 0.468 NA 81 127 1.33e-51 2e-51 1 0 PLG 5340 broad.mit.edu 37 6 161173182 161173182 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:161173182C>A uc003qtm.3 + 18 2224 c.2161C>A c.(2161-2163)CTC>ATC p.L721I NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 721 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGAAGCCCAGCTCCCTGTGAT 0.468 NA 49 65 5.73e-26 7.77e-26 1 0 PDE10A 10846 broad.mit.edu 37 6 165832247 165832247 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:165832247C>A uc003qun.2 - 12 1085 c.844G>T c.(844-846)GTG>TTG p.V282L PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.V212L|PDE10A_uc003quo.2_Missense_Mutation_p.V292L NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 282 GAF 2. 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) TCGGCATTCACCAGGTTTTTT 0.353 NA 25 45 4.6e-10 5.38e-10 1 0 RAC1 5879 broad.mit.edu 37 7 6441558 6441558 + Missense_Mutation SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:6441558A>C uc003spx.2 + 5 589 c.348A>C c.(346-348)AAA>AAC p.K116N RAC1_uc003spw.2_Missense_Mutation_p.K135N NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 116 GTP (By similarity). actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TGGGAACTAAACTTGATCTTA 0.493 NA 79 79 0 0 0 0 C7orf26 79034 broad.mit.edu 37 7 6639935 6639936 + Missense_Mutation DNP GG GG TT TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:6639935_6639936GG>TT uc003sqo.1 + 4 1056_1057 c.1056_1057GG>TT c.(1054-1059)CTGGCG>CTTTCG p.A353S C7orf26_uc003sqp.1_Missense_Mutation_p.A256S|C7orf26_uc003sqq.1_Missense_Mutation_p.A154S NM_024067 NP_076972 Q96N11 CG026_HUMAN hypothetical protein LOC79034 353 ovary(1) 1 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) TGGACCGGCTGGCGCAGGCTCT 0.668 NA 19 34 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21730396 21730396 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:21730396G>T uc003svc.2 + 36 5990 c.5959G>T c.(5959-5961)GGG>TGG p.G1987W NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1987 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TGTATTTCTTGGGGAAGCTAT 0.353 NA Kartagener_syndrome 112 166 8.58e-55 1.3e-54 1 0 OSBPL3 26031 broad.mit.edu 37 7 24856232 24856232 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:24856232G>A uc003sxf.2 - 18 2429 c.2024C>T c.(2023-2025)CCA>CTA p.P675L OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P639L|OSBPL3_uc003sxh.2_Missense_Mutation_p.P644L|OSBPL3_uc003sxi.2_Missense_Mutation_p.P608L NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 675 lipid transport lipid binding|protein binding skin(1) 1 AACTTACACTGGCAGAGTCAC 0.448 NA 109 137 0 0 0 0 CREB5 9586 broad.mit.edu 37 7 28534558 28534558 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:28534558G>A uc003szq.2 + 3 500 c.110G>A c.(109-111)AGG>AAG p.R37K CREB5_uc003szo.2_Missense_Mutation_p.R4K|CREB5_uc003szr.2_Missense_Mutation_p.R30K NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 37 C2H2-type. positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 ATGATTCATAGGCACAAACAT 0.388 NA 77 128 0 0 0 0 C7orf41 222166 broad.mit.edu 37 7 30174858 30174858 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:30174858G>T uc011kab.1 + 1 307 c.106G>T c.(106-108)GAC>TAC p.D36Y C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Missense_Mutation_p.D36Y NM_152793 NP_690006 Q8N3F0 CG041_HUMAN hypothetical protein LOC222166 36 0 TTTCTACGCCGACCCCGGCGT 0.632 NA 10 12 2.18e-05 2.36e-05 1 0 DDX56 54606 broad.mit.edu 37 7 44608736 44608736 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:44608736C>A uc003tlg.2 - 10 1929 c.1286G>T c.(1285-1287)CGC>CTC p.R429L DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R365L|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R389L|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 429 rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 CACCCTGCAGCGATAGCGGAA 0.627 NA 48 62 1.48e-19 1.9e-19 1 0 POM121L12 285877 broad.mit.edu 37 7 53103882 53103882 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:53103882G>T uc003tpz.2 + 1 534 c.518G>T c.(517-519)TGC>TTC p.C173F NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 173 0 CTGGACCCCTGCACCCGGGAG 0.582 NA 21 28 6.21e-17 7.78e-17 1 0 ZNF117 51351 broad.mit.edu 37 7 64439659 64439659 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:64439659T>G uc003ttr.2 - 4 1575 c.290A>C c.(289-291)AAT>ACT p.N97T NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 97 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) CTTGTGTCTATTTGAATTTGA 0.279 NA 35 48 0 0 0 0 CALN1 83698 broad.mit.edu 37 7 71571224 71571224 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:71571224C>T uc003twa.3 - 3 701 c.174G>A c.(172-174)AAG>AAA p.K58K CALN1_uc003twb.3_Silent_p.K100K|CALN1_uc003twc.3_Silent_p.K58K NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 58 EF-hand 1.|Cytoplasmic (Potential).|1 (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CCAGCTCCTGCTTGGAGATGA 0.567 NA 28 33 0 0 0 0 LIMK1 3984 broad.mit.edu 37 7 73521389 73521389 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:73521389C>T uc003uaa.1 + 8 1096 c.931C>T c.(931-933)CCG>TCG p.P311S RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_Intron|LIMK1_uc003uab.2_Missense_Mutation_p.P277S|LIMK1_uc003uac.1_Missense_Mutation_p.P103S NM_002314 NP_002305 P53667 LIMK1_HUMAN LIM domain kinase 1 311 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding stomach(2)|ovary(1) 3 Lung NSC(55;0.137) ACTGGGCTCCCCGGCCTCCCA 0.701 NA 13 16 0 0 0 0 CACNA2D1 781 broad.mit.edu 37 7 81693670 81693670 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:81693670C>A uc003uhr.1 - 9 985 c.729G>T c.(727-729)TGG>TGT p.W243C NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 243 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTTGGATGTACCTGAAACAAA 0.318 NA 28 57 2.61e-14 3.2e-14 1 0 RUNDC3B 154661 broad.mit.edu 37 7 87329865 87329865 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:87329865G>A uc003ujb.2 + 4 829 c.418G>A c.(418-420)GCT>ACT p.A140T ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.A123T|RUNDC3B_uc011khe.1_Missense_Mutation_p.A123T|RUNDC3B_uc003ujc.2_Missense_Mutation_p.A123T|RUNDC3B_uc003ujd.2_Missense_Mutation_p.A45T NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 140 RUN. skin(1) 1 Esophageal squamous(14;0.00164) TTCTTCTAGAGCTAAGGTAAG 0.383 NA 72 142 0 0 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94879404 94879404 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:94879404G>T uc003unp.2 + 9 2449 c.2167G>T c.(2167-2169)GAA>TAA p.E723* PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.E745*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.E723*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.E723*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.E723* NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 723 Interacts with TGN38 (By similarity).|Potential. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) ACAAAACATAGAAGAGAATAA 0.413 NA HNSCC(28;0.073) 16 32 4.76e-15 5.85e-15 1 0 PON2 5445 broad.mit.edu 37 7 95034735 95034735 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:95034735C>T uc003unv.2 - 9 1093 c.972G>A c.(970-972)GGG>GGA p.G324G PON2_uc003unu.2_Silent_p.G312G|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Silent_p.G237G NM_000305 NP_000296 Q15165 PON2_HUMAN paraoxonase 2 isoform 1 324 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) GGAGAACAGACCCATTGTTGG 0.423 NA 57 92 0 0 0 0 BRI3 25798 broad.mit.edu 37 7 97920509 97920509 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:97920509C>T uc003upi.2 + 3 461 c.332C>T c.(331-333)GCC>GTC p.A111V BRI3_uc011kip.1_Intron NM_015379 NP_056194 O95415 BRI3_HUMAN brain protein I3 isoform a 111 Helical; (Potential). integral to membrane 0 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) TGCTGTTTTGCCTTGAGGAAG 0.542 NA 98 115 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100677017 100677017 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:100677017A>T uc003uxp.1 + 3 2373 c.2320A>T c.(2320-2322)ACA>TCA p.T774S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 774 Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTCTTGACACAAGCACACA 0.468 NA 226 310 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100685698 100685698 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:100685698C>A uc003uxp.1 + 3 11054 c.11001C>A c.(10999-11001)ATC>ATA p.I3667I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3667 Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGATCACTTCTACCC 0.502 NA 86 138 4.48e-22 5.87e-22 1 0 CUX1 1523 broad.mit.edu 37 7 101837129 101837129 + Nonsense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:101837129A>T uc003uyx.3 + 13 1122 c.1084A>T c.(1084-1086)AAG>TAG p.K362* CUX1_uc003uys.3_Nonsense_Mutation_p.K373*|CUX1_uc003uyt.2_Nonsense_Mutation_p.K373*|CUX1_uc011kkn.1_Nonsense_Mutation_p.K334*|CUX1_uc003uyw.2_Nonsense_Mutation_p.K327*|CUX1_uc003uyv.2_Nonsense_Mutation_p.K357*|CUX1_uc003uyu.2_Nonsense_Mutation_p.K371* NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 362 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CAGCATTCTGAAGTCCATGGA 0.378 NA 24 27 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103234159 103234159 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:103234159G>T uc003vca.2 - 27 4042 c.3882C>A c.(3880-3882)ACC>ACA p.T1294T RELN_uc010liz.2_Silent_p.T1294T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1294 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) CAGGTTTCAGGGTCAAATCTC 0.393 NA 83 153 1.55e-36 2.23e-36 1 0 GPR22 2845 broad.mit.edu 37 7 107115363 107115363 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:107115363T>A uc003vef.2 + 3 2204 c.858T>A c.(856-858)ACT>ACA p.T286T COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 286 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 GTGTAAGAACTTCAGTTTCTG 0.408 NA 51 49 0 0 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519932 113519932 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:113519932T>C uc010ljy.1 - 4 1246 c.1215A>G c.(1213-1215)TCA>TCG p.S405S NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 405 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TAGTTTCCTCTGAAGGTTGAT 0.413 NA 186 203 0 0 0 0 C7orf58 79974 broad.mit.edu 37 7 120629907 120629907 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:120629907G>A uc003vjq.3 + 2 679 c.232G>A c.(232-234)GCC>ACC p.A78T C7orf58_uc003vjr.1_Missense_Mutation_p.A78T|C7orf58_uc003vjs.3_Missense_Mutation_p.A78T NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 78 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) CTCTGGTAATGCCCAGGAAAC 0.458 NA 60 98 0 0 0 0 FLNC 2318 broad.mit.edu 37 7 128488080 128488080 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:128488080A>G uc003vnz.3 + 26 4747 c.4538A>G c.(4537-4539)TAC>TGC p.Y1513C FLNC_uc003voa.3_Missense_Mutation_p.Y1513C NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1513 Filamin 13. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GACGGGCCCTACACGGTAGCC 0.667 NA 8 9 0 0 0 0 PLXNA4 91584 broad.mit.edu 37 7 131853075 131853075 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:131853075A>T uc003vra.3 - 22 4503 c.4274T>A c.(4273-4275)CTG>CAG p.L1425Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1425 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CCTGAGCAGCAGCTTAGGGTG 0.612 NA 9 13 0 0 0 0 PLXNA4 91584 broad.mit.edu 37 7 131913220 131913220 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:131913220C>A uc003vra.3 - 6 1842 c.1613G>T c.(1612-1614)CGG>CTG p.R538L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 538 PSI 1.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CCGCTCCTTCCGGGTGCAACT 0.607 NA 34 48 2.87e-16 3.57e-16 1 0 WDR91 29062 broad.mit.edu 37 7 134893687 134893687 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:134893687C>T uc003vsp.2 - 3 429 c.367G>A c.(367-369)GCT>ACT p.A123T WDR91_uc010lmq.2_5'Flank|WDR91_uc010lmr.2_5'Flank NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 123 breast(2)|ovary(1)|skin(1) 4 TTCCACTCAGCCTGGTTCTGG 0.537 NA 81 134 0 0 0 0 AKR1D1 6718 broad.mit.edu 37 7 137773407 137773407 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:137773407A>G uc003vtz.2 + 2 223 c.154A>G c.(154-156)ATT>GTT p.I52V AKR1D1_uc011kqb.1_Missense_Mutation_p.I52V|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.I52V|AKR1D1_uc011kqf.1_Missense_Mutation_p.I52V NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 52 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 GTACCGACATATTGATGGGGC 0.488 NA 32 41 0 0 0 0 WEE2 494551 broad.mit.edu 37 7 141424933 141424933 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:141424933C>A uc003vwn.2 + 9 1735 c.1329C>A c.(1327-1329)ATC>ATA p.I443I FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 443 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) GGCACCATATCCGCAAGGGTA 0.493 NA 49 69 8e-19 1.02e-18 1 0 MGAM 8972 broad.mit.edu 37 7 141803074 141803074 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:141803074G>A uc003vwy.2 + 47 5385 c.5331G>A c.(5329-5331)ACG>ACA p.T1777T NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1777 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AACAGAATACGATGCAAAGCC 0.348 NA 13 12 0 0 0 0 OR2F2 135948 broad.mit.edu 37 7 143633169 143633169 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:143633169A>T uc011ktv.1 + 1 844 c.844A>T c.(844-846)ATG>TTG p.M282L NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) TGCCATTGTTATGCCTCTGCT 0.463 NA 88 111 0 0 0 0 OR2A25 392138 broad.mit.edu 37 7 143772005 143772005 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:143772005G>C uc011ktx.1 + 1 693 c.693G>C c.(691-693)GAG>GAC p.E231D NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) AGTCAGGAGAGGGGTGCCAGA 0.483 NA 92 140 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829578 146829578 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:146829578T>A uc003weu.1 + 8 1841 c.1325T>A c.(1324-1326)ATG>AAG p.M442K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 442 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGACCAAGATGAGCCAAATC 0.408 NA HNSCC(39;0.1) 48 69 0 0 0 0 AGAP3 116988 broad.mit.edu 37 7 150837179 150837179 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:150837179G>A uc003wjg.1 + 13 1783 c.1780G>A c.(1780-1782)GAC>AAC p.D594N AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Missense_Mutation_p.D93N|AGAP3_uc003wjk.1_5'UTR NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 558 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 CCCCCGACCAGACGGCCCCAG 0.607 NA 11 20 0 0 0 0 ASB10 136371 broad.mit.edu 37 7 150878289 150878289 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:150878289G>A uc003wjm.1 - 3 1102 c.976C>T c.(976-978)CTT>TTT p.L326F ASB10_uc003wjl.1_Missense_Mutation_p.L326F|ASB10_uc003wjn.1_Missense_Mutation_p.L266F NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 281 ANK 5. intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAGCTGAAAGCAGCAAGCTG 0.677 NA 27 40 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151927067 151927067 + Missense_Mutation SNP T T C rs60244562 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:151927067T>C uc003wla.2 - 18 3136 c.2917A>G c.(2917-2919)AGA>GGA p.R973G MLL3_uc003wkz.2_Missense_Mutation_p.R34G NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 973 PHD-type 4. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCAAGTAATCTTCCTTCTGCT 0.353 NA N medulloblastoma 5 458 0 0 0 0 PTPRN2 5799 broad.mit.edu 37 7 157985038 157985038 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:157985038T>C uc003wno.2 - 5 651 c.530A>G c.(529-531)CAG>CGG p.Q177R PTPRN2_uc003wnp.2_Missense_Mutation_p.Q160R|PTPRN2_uc003wnq.2_Missense_Mutation_p.Q177R|PTPRN2_uc003wnr.2_Missense_Mutation_p.Q139R|PTPRN2_uc011kwa.1_Missense_Mutation_p.Q200R NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 177 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GGGTCTGTCCTGCGCCGTATG 0.677 NA 25 35 0 0 0 0 BLK 640 broad.mit.edu 37 8 11418850 11418850 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:11418850A>G uc003wty.2 + 11 1650 c.1069A>G c.(1069-1071)ATC>GTC p.I357V BLK_uc003wtz.2_Missense_Mutation_p.I286V|BLK_uc003wua.2_Missense_Mutation_p.I193V NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 357 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CATGAATTCCATCCACCGCGA 0.562 NA 25 25 0 0 0 0 PDLIM2 64236 broad.mit.edu 37 8 22442530 22442530 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:22442530G>A uc003xby.2 + 5 716 c.316G>A c.(316-318)GGC>AGC p.G106S PDLIM2_uc003xbx.1_Missense_Mutation_p.G106S|PDLIM2_uc003xbz.2_Missense_Mutation_p.G106S|PDLIM2_uc003xca.2_Missense_Mutation_p.G106S|PDLIM2_uc003xcb.2_Missense_Mutation_p.G106S|PDLIM2_uc003xcc.1_Missense_Mutation_p.G106S NM_021630 NP_067643 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 isoform 2 106 actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) CTCTCCACAGGGCTCCGTGAG 0.637 NA 88 127 0 0 0 0 DPYSL2 1808 broad.mit.edu 37 8 26501563 26501563 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:26501563A>T uc003xfb.1 + 10 1416 c.1066A>T c.(1066-1068)AAT>TAT p.N356Y DPYSL2_uc003xfa.2_Missense_Mutation_p.N461Y|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.N320Y NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 356 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GGAGGGCACCAATGGCACTGA 0.577 NA 28 47 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35588529 35588529 + Splice_Site SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:35588529G>A uc003xjr.1 + 11 2010 c.1682_splice c.e11-1 p.G561_splice UNC5D_uc003xjs.1_Splice_Site_p.G556_splice|UNC5D_uc003xju.1_Splice_Site_p.G137_splice NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTCTGTTTTAGGGGTGAGCTT 0.423 NA 40 41 0 0 0 0 ADAM2 2515 broad.mit.edu 37 8 39613295 39613295 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:39613295G>T uc003xnj.2 - 16 1824 c.1749C>A c.(1747-1749)GAC>GAA p.D583E ADAM2_uc003xnk.2_Missense_Mutation_p.D564E|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Missense_Mutation_p.D427E NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 583 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCTTTTGGCTGTCTGCATGAT 0.348 NA 39 61 1.91e-15 2.35e-15 1 0 SLC20A2 6575 broad.mit.edu 37 8 42294989 42294989 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:42294989C>A uc010lxl.2 - 8 1735 c.1041G>T c.(1039-1041)GTG>GTT p.V347V SLC20A2_uc010lxm.2_Silent_p.V347V|SLC20A2_uc003xpe.2_Silent_p.V347V|SLC20A2_uc011lcu.1_Silent_p.V149V NM_006749 NP_006740 Q08357 S20A2_HUMAN solute carrier family 20, member 2 347 Cytoplasmic (Potential). interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity ovary(2) 2 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) AGTCTTTGTGCACGGTGTGGT 0.592 NA 87 120 8.56e-49 1.28e-48 1 0 RP1 6101 broad.mit.edu 37 8 55540694 55540694 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:55540694G>T uc003xsd.1 + 4 4400 c.4252G>T c.(4252-4254)GAT>TAT p.D1418Y RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1418 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGTTCTCTAGATGATTTTGA 0.358 NA 50 93 1.61e-24 2.16e-24 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618582 77618582 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:77618582C>A uc003yav.2 + 2 2646 c.2259C>A c.(2257-2259)TGC>TGA p.C753* ZFHX4_uc003yat.1_Nonsense_Mutation_p.C753*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.C753*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.C753* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 753 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCAGTGGCTGCGGAACACCCT 0.527 NA HNSCC(33;0.089) 21 19 0.000375601 0.000398754 1 0 CNBD1 168975 broad.mit.edu 37 8 88363947 88363948 + Missense_Mutation DNP GG GG TT TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:88363947_88363948GG>TT uc003ydy.2 + 9 1125_1126 c.1077_1078GG>TT c.(1075-1080)GTGGGT>GTTTGT p.G360C NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 360 cNMP. ovary(3) 3 TTTCTTTTGTGGGTTATATTAA 0.262 NA 5 8 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 92982970 92982970 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:92982970C>A uc003yfd.2 - 10 1539 c.1455G>T c.(1453-1455)AAG>AAT p.K485N RUNX1T1_uc003yfc.1_Missense_Mutation_p.K458N|RUNX1T1_uc003yfe.1_Missense_Mutation_p.K448N|RUNX1T1_uc010mao.2_Missense_Mutation_p.K458N|RUNX1T1_uc011lgi.1_Missense_Mutation_p.K496N|RUNX1T1_uc010man.1_Missense_Mutation_p.K110N|RUNX1T1_uc003yfb.1_Missense_Mutation_p.K448N NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 485 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCGCTCCATCTTGGCCCTCT 0.617 NA 43 64 3.55e-21 4.6e-21 1 0 VPS13B 157680 broad.mit.edu 37 8 100866327 100866327 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:100866327G>A uc003yiv.2 + 56 10896 c.10785G>A c.(10783-10785)TTG>TTA p.L3595L VPS13B_uc003yiw.2_Silent_p.L3570L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3595 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAGTAAATTTGCTCGTCAGCA 0.542 NA 39 46 0 0 0 0 TM7SF4 81501 broad.mit.edu 37 8 105361622 105361622 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:105361622C>G uc003ylx.1 + 2 891 c.842C>G c.(841-843)CCG>CGG p.P281R NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 281 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTCATCATCCCGACTTTCTGG 0.478 NA 110 127 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110425733 110425733 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:110425733C>T uc003yne.2 + 21 2423 c.2319C>T c.(2317-2319)AGC>AGT p.S773S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 773 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTACTAGAAGCACTGATACAC 0.289 NA HNSCC(38;0.096) 7 4 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110474049 110474049 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:110474049T>A uc003yne.2 + 48 7399 c.7295T>A c.(7294-7296)ATA>AAA p.I2432K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2432 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAGAAGAAATAGGAAGTGAC 0.393 NA HNSCC(38;0.096) 13 16 0 0 0 0 KCNV1 27012 broad.mit.edu 37 8 110984922 110984922 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:110984922G>T uc003ynr.3 - 2 898 c.556C>A c.(556-558)CAA>AAA p.Q186K KCNV1_uc010mcw.2_Missense_Mutation_p.Q186K NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 186 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CAAGGTCCTTGGGAGAAGTCC 0.458 NA 61 98 1.46e-30 2.03e-30 1 0 CSMD3 114788 broad.mit.edu 37 8 113277643 113277643 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:113277643T>C uc003ynu.2 - 60 9844 c.9685A>G c.(9685-9687)AGA>GGA p.R3229G CSMD3_uc003yns.2_Missense_Mutation_p.R2431G|CSMD3_uc003ynt.2_Missense_Mutation_p.R3189G|CSMD3_uc011lhx.1_Missense_Mutation_p.R3060G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3229 Extracellular (Potential).|Sushi 24. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATCATACCTCTACAAGTTGGC 0.294 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 81 114 0 0 0 0 ENPP2 5168 broad.mit.edu 37 8 120602744 120602744 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:120602744C>A uc003yot.1 - 13 1293 c.1207_splice c.e13+1 p.Y403_splice ENPP2_uc003yor.1_Splice_Site_p.Y42_splice|ENPP2_uc003yos.1_Splice_Site_p.Y455_splice|ENPP2_uc010mdd.1_Splice_Site_p.Y403_splice NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AATCAACTTACATTTAGCATT 0.239 NA 29 39 7.38e-10 8.6e-10 1 0 COL14A1 7373 broad.mit.edu 37 8 121240971 121240971 + Silent SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:121240971A>T uc003yox.2 + 18 2425 c.2160A>T c.(2158-2160)CCA>CCT p.P720P COL14A1_uc003yoy.2_Silent_p.P398P NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 720 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGACAGAACCAGCTACAACCA 0.284 NA 62 91 0 0 0 0 EFR3A 23167 broad.mit.edu 37 8 132971846 132971846 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:132971846A>G uc003yte.2 + 8 992 c.791A>G c.(790-792)CAC>CGC p.H264R NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 264 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTAGATCATCACAAACTGTGG 0.279 NA 40 69 0 0 0 0 ZFAT 57623 broad.mit.edu 37 8 135612791 135612791 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:135612791T>C uc003yup.2 - 7 2538 c.2363A>G c.(2362-2364)CAC>CGC p.H788R ZFAT_uc003yun.2_Missense_Mutation_p.H776R|ZFAT_uc003yuo.2_Missense_Mutation_p.H776R|ZFAT_uc010meh.2_Missense_Mutation_p.H776R|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.H776R|ZFAT_uc010mej.2_Missense_Mutation_p.H726R|ZFAT_uc003yur.2_Missense_Mutation_p.H776R|ZFATAS_uc003yus.1_RNA NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 788 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTGAATTACGTGGCGTTTAAG 0.428 NA 90 151 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139180143 139180143 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:139180143G>T uc003yuy.2 - 12 1424 c.1253C>A c.(1252-1254)GCG>GAG p.A418E FAM135B_uc003yux.2_Missense_Mutation_p.A319E|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 418 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAAACCTGTCGCAGGGCAGTC 0.507 NA HNSCC(54;0.14) 91 114 1.37e-43 2.02e-43 1 0 COL22A1 169044 broad.mit.edu 37 8 139638470 139638470 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:139638470G>T uc003yvd.2 - 51 4127 c.3680C>A c.(3679-3681)CCT>CAT p.P1227H COL22A1_uc011ljo.1_Missense_Mutation_p.P507H NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1227 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGGGGGCCAGGAGGGCCTTC 0.403 NA HNSCC(7;0.00092) 33 78 1.04e-10 1.24e-10 1 0 COL22A1 169044 broad.mit.edu 37 8 139642958 139642958 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:139642958G>A uc003yvd.2 - 50 4090 c.3643C>T c.(3643-3645)CCA>TCA p.P1215S COL22A1_uc011ljo.1_Missense_Mutation_p.P495S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1215 Pro-rich.|Gly-rich.|Collagen-like 11. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGGATTCCTGGTGGTCCAGCA 0.478 NA HNSCC(7;0.00092) 150 202 0 0 0 0 SCRIB 23513 broad.mit.edu 37 8 144877207 144877207 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:144877207C>A uc003yzp.1 - 27 3853 c.3846_splice c.e27+1 p.R1282_splice SCRIB_uc003yzn.1_Splice_Site|SCRIB_uc003yzo.1_Splice_Site_p.R1282_splice NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGGGCACTCACCCTCTGCACG 0.682 NA 21 37 1.64e-05 1.78e-05 1 0 RECQL4 9401 broad.mit.edu 37 8 145739431 145739431 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:145739431G>T uc003zdj.2 - 12 1971 c.1939C>A c.(1939-1941)CGC>AGC p.R647S NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 647 Helicase ATP-binding. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGGCAGTGCGGCGTGTGGCT 0.672 NA N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 4 4 1.24e-05 1.35e-05 1 0 MPDZ 8777 broad.mit.edu 37 9 13196141 13196141 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:13196141C>T uc010mia.1 - 12 1692 c.1635G>A c.(1633-1635)ATG>ATA p.M545I MPDZ_uc010mhy.2_Missense_Mutation_p.M545I|MPDZ_uc010mhz.2_Missense_Mutation_p.M545I|MPDZ_uc011lmn.1_Missense_Mutation_p.M545I|MPDZ_uc003zlb.3_Missense_Mutation_p.M545I NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 545 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) AGTTAATTCCCATAATCCTTT 0.383 NA 11 3 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35717418 35717418 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:35717418C>A uc003zxt.2 - 19 2537 c.2183G>T c.(2182-2184)AGC>ATC p.S728I NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 728 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GACAGGTGAGCTGATTGTAGG 0.557 NA 68 25 9.54e-23 1.26e-22 1 0 ZNF658 26149 broad.mit.edu 37 9 40774556 40774556 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:40774556T>C uc004abs.2 - 5 871 c.719A>G c.(718-720)GAA>GGA p.E240G ZNF658_uc010mmm.1_Missense_Mutation_p.E240G|ZNF658_uc010mmn.1_Missense_Mutation_p.E240G NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACAGGACTTTTCTCCTGTTAG 0.323 NA 74 87 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43630658 43630658 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:43630658G>A uc011lrb.1 - 1 73 c.44C>T c.(43-45)TCG>TTG p.S15L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 15 integral to membrane 0 GGCGTTTAGCGATGAGGCACT 0.488 NA 80 25 0 0 0 0 RORB 6096 broad.mit.edu 37 9 77257706 77257706 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:77257706A>G uc004aji.2 + 4 694 c.645A>G c.(643-645)GCA>GCG p.A215A RORB_uc004ajh.2_Silent_p.A204A NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 215 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 GGCAGTTAGCACCAGGGATAA 0.408 NA 47 70 0 0 0 0 C9orf79 286234 broad.mit.edu 37 9 90502556 90502556 + Missense_Mutation SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:90502556A>C uc004app.3 + 4 3189 c.3154A>C c.(3154-3156)AGT>CGT p.S1052R NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1052 integral to membrane ovary(3) 3 CTTGGGAGCCAGTGTGAGGGC 0.592 NA 64 121 0 0 0 0 C9orf79 286234 broad.mit.edu 37 9 90503213 90503213 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:90503213C>A uc004app.3 + 4 3846 c.3811C>A c.(3811-3813)CCA>ACA p.P1271T NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1271 integral to membrane ovary(3) 3 CAGTCACCATCCACAGGGTCT 0.542 NA 31 73 1.08e-15 1.34e-15 1 0 IARS 3376 broad.mit.edu 37 9 95050422 95050422 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:95050422G>T uc004art.1 - 3 519 c.262C>A c.(262-264)CAT>AAT p.H88N IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.H88N|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 88 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) GGTAAGCCATGGCAATCCCAT 0.333 NA 62 71 9.5e-31 1.33e-30 1 0 NOL8 55035 broad.mit.edu 37 9 95077690 95077690 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:95077690G>C uc004arv.2 - 7 1554 c.1217C>G c.(1216-1218)TCT>TGT p.S406C NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.S338C NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 406 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 TTTCTTCGTAGATTTTTCCAT 0.328 NA 17 17 0 0 0 0 ZNF782 158431 broad.mit.edu 37 9 99580614 99580614 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:99580614C>G uc004awp.1 - 6 1972 c.1691G>C c.(1690-1692)TGT>TCT p.C564S ZNF782_uc011lup.1_Missense_Mutation_p.C432S NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 564 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) ACAATGATTACATTTATAGGG 0.413 NA 156 254 0 0 0 0 RAD23B 5887 broad.mit.edu 37 9 110086243 110086243 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:110086243C>T uc004bde.2 + 8 1257 c.890C>T c.(889-891)TCC>TTC p.S297F RAD23B_uc011lwa.1_Missense_Mutation_p.S297F|RAD23B_uc011lwb.1_Missense_Mutation_p.S276F NM_002874 NP_002865 P54727 RD23B_HUMAN UV excision repair protein RAD23 homolog B 297 STI1. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding ovary(1) 1 CAGAATCCTTCCTTGCTTCCA 0.388 NA Direct_reversal_of_damage|NER 79 111 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898848 112898848 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:112898848G>T uc004bei.2 + 9 1912 c.1720G>T c.(1720-1722)GCA>TCA p.A574S PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.A342S|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.A342S|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A152S|AKAP2_uc011lwi.1_Missense_Mutation_p.A200S|AKAP2_uc004bem.2_Missense_Mutation_p.A200S|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A160S|AKAP2_uc011lwj.1_Missense_Mutation_p.A111S|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.A111S NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 111 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 TAGCCGGCAGGCACCTCCTCA 0.622 NA 58 66 1.31e-36 1.89e-36 1 0 COL27A1 85301 broad.mit.edu 37 9 117050772 117050772 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:117050772C>A uc011lxl.1 + 42 4025 c.4025C>A c.(4024-4026)CCT>CAT p.P1342H COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1342 Collagen-like 12.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GAGGGGCCCCCTGGGCCACCT 0.662 NA 7 13 0.00448238 0.00463867 1 0 TNC 3371 broad.mit.edu 37 9 117793913 117793913 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:117793913G>T uc004bjj.3 - 23 6201 c.5839C>A c.(5839-5841)CCA>ACA p.P1947T TNC_uc010mvf.2_Missense_Mutation_p.P1674T NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1947 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TGGGTGGATGGGCTCAGGTCT 0.512 NA 78 117 2.72e-29 3.77e-29 1 0 TLR4 7099 broad.mit.edu 37 9 120476539 120476539 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:120476539C>A uc004bjz.2 + 3 2424 c.2133C>A c.(2131-2133)GAC>GAA p.D711E TLR4_uc004bka.2_Missense_Mutation_p.D671E|TLR4_uc004bkb.2_Missense_Mutation_p.D511E NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 711 Cytoplasmic (Potential).|TIR. D->K: Abolishes LPS-response. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ACTACAGAGACTTTATTCCCG 0.473 NA 68 85 2.19e-23 2.91e-23 1 0 DBC1 1620 broad.mit.edu 37 9 121930238 121930238 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:121930238C>T uc004bkc.2 - 8 1866 c.1410G>A c.(1408-1410)CGG>CGA p.R470R NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 470 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 ACTGCTCGCTCCGCTCCGAGT 0.582 NA 29 62 0 0 0 0 TMEM8C 389827 broad.mit.edu 37 9 136380685 136380685 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:136380685G>A uc011mdk.1 - 4 444 c.444C>T c.(442-444)AGC>AGT p.S148S NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN transmembrane protein 8C 148 integral to membrane 0 GGGTGTAGACGCTCTTGTCTG 0.597 NA 47 68 0 0 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407468 1407468 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:1407468C>T uc010nct.2 + 6 598 c.276C>T c.(274-276)GTC>GTT p.V92V CSF2RA_uc011mhb.1_Silent_p.V92V|CSF2RA_uc004cpq.2_Silent_p.V92V|CSF2RA_uc004cpn.2_Silent_p.V92V|CSF2RA_uc004cpo.2_Silent_p.V92V|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.V92V|CSF2RA_uc010ncv.2_Silent_p.V92V|CSF2RA_uc004cpr.2_Silent_p.V92V NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 92 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ATGAAGGAGTCACATTTGAGG 0.423 NA 163 292 0 0 0 0 IL3RA 3563 broad.mit.edu 37 X 1464240 1464240 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:1464240G>C uc004cps.2 + 3 445 c.96G>C c.(94-96)ATG>ATC p.M32I IL3RA_uc011mhd.1_Intron NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 32 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ACCTAAGGATGAAAGCAAAGG 0.443 NA 5 353 0 0 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069249 6069249 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:6069249G>T uc010ndh.2 - 2 760 c.259C>A c.(259-261)CGG>AGG p.R87R NLGN4X_uc004crp.2_Silent_p.R87R|NLGN4X_uc004crq.2_Silent_p.R87R|NLGN4X_uc010ndi.2_Silent_p.R87R|NLGN4X_uc004crr.2_Silent_p.R87R|NLGN4X_uc010ndj.2_Silent_p.R87R NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 87 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GGCTGAAACCGCCTCTCTCCA 0.572 NA 75 12 6.21e-33 8.77e-33 1 0 MAGEB4 4115 broad.mit.edu 37 X 30260672 30260672 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:30260672C>T uc004dcb.2 + 1 504 c.420C>T c.(418-420)AGC>AGT p.S140S MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 140 MAGE. ovary(1) 1 AGATCATCAGCAAAAAGTACA 0.473 NA 25 3 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31893375 31893375 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:31893375C>G uc004dda.1 - 48 7272 c.7028G>C c.(7027-7029)TGG>TCG p.W2343S DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.W999S|DMD_uc004dcx.2_Missense_Mutation_p.W1002S|DMD_uc004dcz.2_Missense_Mutation_p.W2220S|DMD_uc004dcy.1_Missense_Mutation_p.W2339S|DMD_uc004ddb.1_Missense_Mutation_p.W2335S|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2343 Missing (in DMD). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGAGATAACCACAGCAGCAG 0.368 NA 22 7 0 0 0 0 FAM47C 442444 broad.mit.edu 37 X 37027498 37027498 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:37027498G>T uc004ddl.1 + 1 1029 c.1015G>T c.(1015-1017)GTG>TTG p.V339L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 339 ovary(3) 3 CAAGACTCTGGTGTCCAGTCT 0.622 NA 88 22 1.07e-62 1.63e-62 1 0 WDR45 11152 broad.mit.edu 37 X 48933527 48933527 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:48933527C>G uc004dmk.1 - 7 686 c.514G>C c.(514-516)GTG>CTG p.V172L PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.V70L|WDR45_uc004dmj.1_Missense_Mutation_p.V133L|WDR45_uc004dml.1_Missense_Mutation_p.V173L|WDR45_uc004dmm.1_Missense_Mutation_p.V137L|WDR45_uc010nim.1_Missense_Mutation_p.V172L|WDR45_uc004dmn.1_Missense_Mutation_p.V63L|WDR45_uc004dmo.1_Missense_Mutation_p.V195L|WDR45_uc004dmp.1_Missense_Mutation_p.V173L NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 172 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 CGGCTCACCACAAGTTGCAGA 0.597 NA 31 3 0 0 0 0 PAGE4 9506 broad.mit.edu 37 X 49597193 49597193 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:49597193G>T uc004don.1 + 4 311 c.232G>T c.(232-234)GGC>TGC p.G78C NM_007003 NP_008934 O60829 GAGC1_HUMAN G antigen, family C, 1 78 0 Ovarian(276;0.236) GCGTGGAGATGGCTCTGATGT 0.388 NA 57 12 4.14e-29 5.71e-29 1 0 WNK3 65267 broad.mit.edu 37 X 54359590 54359590 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:54359590C>A uc004dtd.1 - 2 956 c.517G>T c.(517-519)GTT>TTT p.V173F WNK3_uc004dtc.1_Missense_Mutation_p.V173F NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 173 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CACCAAGCAACCTCAACCCAT 0.393 NA 83 22 3.17e-35 4.53e-35 1 0 MSN 4478 broad.mit.edu 37 X 64959590 64959590 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:64959590G>T uc004dwf.2 + 13 1768 c.1570_splice c.e13-1 p.A524_splice NM_002444 NP_002435 P26038 MOES_HUMAN moesin leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 CATCCTCACAGGCCCTCACTT 0.483 NA T ALK ALCL 54 15 2.65e-33 3.74e-33 1 0 EDA2R 60401 broad.mit.edu 37 X 65824895 65824895 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:65824895C>T uc004dwq.2 - 2 272 c.261G>A c.(259-261)TTG>TTA p.L87L EDA2R_uc004dwr.2_Silent_p.L87L|EDA2R_uc004dws.2_Silent_p.L87L|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Silent_p.L87L|EDA2R_uc004dwt.1_Silent_p.L87L NM_021783 NP_068555 Q9HAV5 TNR27_HUMAN X-linked ectodysplasin receptor 87 TNFR-Cys 3.|Extracellular (Potential). cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity upper_aerodigestive_tract(1) 1 CTCACCTGGGCAAACAGTCCC 0.488 NA 10 2 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961161 73961161 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:73961161A>G uc004eby.2 - 3 3848 c.3231T>C c.(3229-3231)CCT>CCC p.P1077P NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1077 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GGGAAAGACTAGGGGTGTCCG 0.502 NA 102 34 0 0 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83371245 83371245 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:83371245C>T uc004eej.1 - 12 1077 c.1000G>A c.(1000-1002)GAC>AAC p.D334N RPS6KA6_uc011mqt.1_Missense_Mutation_p.D334N|RPS6KA6_uc011mqu.1_Missense_Mutation_p.D231N NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 334 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 ACATCCCAGTCAATATTTGCA 0.234 NA 28 2 0 0 0 0 HDX 139324 broad.mit.edu 37 X 83616510 83616510 + Silent SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:83616510C>G uc004eek.1 - 5 1525 c.1416G>C c.(1414-1416)GTG>GTC p.V472V HDX_uc011mqv.1_Silent_p.V472V|HDX_uc004eel.1_Silent_p.V414V NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 472 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 ATTCAGTTGCCACAGCTTCAA 0.393 NA 27 8 0 0 0 0 POF1B 79983 broad.mit.edu 37 X 84634342 84634342 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:84634342G>T uc004eer.2 - 2 264 c.118C>A c.(118-120)CAG>AAG p.Q40K POF1B_uc004ees.2_Missense_Mutation_p.Q40K NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 40 actin binding 0 GGAGGCTGCTGGGCTTGGCTT 0.577 NA 34 4 3.21e-22 4.22e-22 1 0 DACH2 117154 broad.mit.edu 37 X 85994839 85994839 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:85994839T>A uc004eew.2 + 7 1364 c.1194T>A c.(1192-1194)AGT>AGA p.S398R DACH2_uc004eex.2_Missense_Mutation_p.S385R|DACH2_uc010nmq.2_Missense_Mutation_p.S264R|DACH2_uc011mra.1_Missense_Mutation_p.S231R|DACH2_uc010nmr.2_Missense_Mutation_p.S179R|DACH2_uc004eey.2_Missense_Mutation_p.S81R|DACH2_uc004eez.2_Missense_Mutation_p.S81R NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 CCAGCAGCAGTGTGTCCAGCT 0.458 NA 21 3 0 0 0 0 NOX1 27035 broad.mit.edu 37 X 100117442 100117442 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:100117442A>G uc004egj.2 - 6 816 c.610T>C c.(610-612)TTC>CTC p.F204L uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.F204L|NOX1_uc010nne.2_Missense_Mutation_p.F167L NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 204 Cytoplasmic (Potential).|Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 GTATACCAGAAGACTTCAAAA 0.463 NA 218 48 0 0 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104478565 104478565 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:104478565G>A uc004elz.1 + 4 1176 c.420G>A c.(418-420)CTG>CTA p.L140L NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 140 Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 AATCAGGCCTGTGCTACAACA 0.403 NA 152 39 0 0 0 0 GRIA3 2892 broad.mit.edu 37 X 122598930 122598930 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:122598930A>T uc004etq.3 + 14 2584 c.2291A>T c.(2290-2292)TAT>TTT p.Y764F GRIA3_uc004etr.3_Missense_Mutation_p.Y764F|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 764 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TCCAAAGGCTATGGTGTGGCA 0.428 NA 91 20 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135439903 135439903 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:135439903A>T uc004ezu.1 + 10 7259 c.6968A>T c.(6967-6969)TAT>TTT p.Y2323F GPR112_uc010nsb.1_Missense_Mutation_p.Y2118F|GPR112_uc010nsc.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2323 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACAATTTCCTATGTACCATAC 0.368 NA 147 35 0 0 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717687 142717687 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:142717687A>G uc004fbx.2 - 2 1614 c.1238T>C c.(1237-1239)ATT>ACT p.I413T SLITRK4_uc004fby.2_Missense_Mutation_p.I413T NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 413 Extracellular (Potential).|LRR 8. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) AATCACTGTAATTTGATTGCT 0.388 NA 131 25 0 0 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905948 144905948 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:144905948T>A uc004fcd.2 + 5 2995 c.2005T>A c.(2005-2007)TAT>AAT p.Y669N SLITRK2_uc010nsp.2_Missense_Mutation_p.Y669N|SLITRK2_uc010nso.2_Missense_Mutation_p.Y669N|SLITRK2_uc011mwq.1_Missense_Mutation_p.Y669N|SLITRK2_uc011mwr.1_Missense_Mutation_p.Y669N|SLITRK2_uc011mws.1_Missense_Mutation_p.Y669N|SLITRK2_uc004fcg.2_Missense_Mutation_p.Y669N|SLITRK2_uc011mwt.1_Missense_Mutation_p.Y669N|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 669 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCAATTACAGTATGGGTCTTA 0.478 NA 85 15 0 0 0 0 GABRA3 2556 broad.mit.edu 37 X 151514091 151514091 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:151514091A>G uc010ntk.1 - 3 464 c.224T>C c.(223-225)CTG>CCG p.L75P NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 75 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATAGCCGTCCAGAAGACGATC 0.473 NA 67 14 0 0 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869846 151869846 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:151869846C>G uc004ffq.1 + 3 730 c.536C>G c.(535-537)GCC>GGC p.A179G MAGEA6_uc004ffr.1_Missense_Mutation_p.A179G|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 179 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) TACATCTTTGCCACCTGCCTG 0.527 NA 102 18 0 0 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22930714 22930714 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrY:22930714G>A uc011nbb.1 + 5 480 c.384G>A c.(382-384)AAG>AAA p.K128K NM_001039567 NP_001034656 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 128 translation ribosome rRNA binding|structural constituent of ribosome 0 AAGTGAGGAAGATTACTGTGG 0.438 NA 49 8 0 0 0 0 GNL2 29889 broad.mit.edu 37 1 38039946 38039946 + Frame_Shift_Del DEL G G - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:38039946delG uc001cbk.2 - 12 1577 c.1414delC c.(1414-1416)CAGfs p.Q472fs NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 472 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) GCTCTTACCTGGGGGGCCACA 0.542 NA 16 23 --- --- --- --- NA NA NA NA TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:72094757delT uc001sws.2 + 6 1576 c.993delT c.(991-993)GGTfs p.G331fs TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 Helical; (Potential). integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 NA 8 474 --- --- --- --- NA NA NA NA RNF17 56163 broad.mit.edu 37 13 25362210 25362211 + Frame_Shift_Ins INS - - A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:25362210_25362211insA uc001upr.2 + 7 737_738 c.696_697insA c.(694-699)GAGAAAfs p.E232fs RNF17_uc010tdd.1_Frame_Shift_Ins_p.E91fs|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Frame_Shift_Ins_p.E232fs|RNF17_uc001ups.2_Frame_Shift_Ins_p.E171fs|RNF17_uc001upq.1_Frame_Shift_Ins_p.E232fs NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 232_233 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACATTGAAGAGAAAAAAAATAA 0.307 NA 42 31 --- --- --- --- NA NA NA NA CYLD 1540 broad.mit.edu 37 16 50785545 50785545 + Frame_Shift_Del DEL G G - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:50785545delG uc002egp.1 + 5 950 c.535delG c.(535-537)GGGfs p.G179fs CYLD_uc002egn.1_Frame_Shift_Del_p.G179fs|CYLD_uc002ego.2_Frame_Shift_Del_p.G179fs|CYLD_uc010cbs.1_Frame_Shift_Del_p.G179fs|CYLD_uc002egq.1_Frame_Shift_Del_p.G179fs|CYLD_uc002egr.1_Frame_Shift_Del_p.G179fs|CYLD_uc002egs.1_Frame_Shift_Del_p.G179fs NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 179 CAP-Gly 1.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TTTCACTGACGGGGTGTACCA 0.418 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 121 61 --- --- --- --- NA NA NA NA RAI1 10743 broad.mit.edu 37 17 17698946 17698946 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:17698946delC uc002grm.2 + 3 3153 c.2684delC c.(2683-2685)GCCfs p.A895fs RAI1_uc002grn.1_Frame_Shift_Del_p.A895fs NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 895 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) TCACCCAAGGCCCCACTCATC 0.652 NA 31 47 --- --- --- --- NA NA NA NA C17orf104 284071 broad.mit.edu 37 17 42744329 42744330 + Frame_Shift_Ins INS - - A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:42744329_42744330insA uc010czv.2 + 5 1050_1051 c.1050_1051insA c.(1048-1053)AGCAAAfs p.S350fs C17orf104_uc002igy.1_Frame_Shift_Ins_p.S184fs|C17orf104_uc002igz.3_Frame_Shift_Ins_p.S184fs|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Frame_Shift_Ins_p.S184fs NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 350_351 central_nervous_system(1) 1 TCCAAGATAGCAAAAAATTAGC 0.347 NA 11 22 --- --- --- --- NA NA NA NA CDC27 996 broad.mit.edu 37 17 45219355 45219355 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:45219355delC uc002ild.3 - 12 1542 c.1415delG c.(1414-1416)GGTfs p.G472fs CDC27_uc002ile.3_Frame_Shift_Del_p.G478fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.G471fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.G411fs|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 472 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 AGCTAAATAACCTTTCCCCAT 0.368 NA 7 384 --- --- --- --- NA NA NA NA PIGN 23556 broad.mit.edu 37 18 59821827 59821827 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:59821827delC uc002lii.3 - 7 948 c.500delG c.(499-501)GGTfs p.G167fs PIGN_uc002lij.3_Frame_Shift_Del_p.G167fs NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 167 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) ATCTTGAGCACCAAAATCCTC 0.313 NA 77 200 --- --- --- --- NA NA NA NA HOXD4 3233 broad.mit.edu 37 2 177016671 177016671 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:177016671delC uc002uks.2 + 1 559 c.310delC c.(310-312)CCGfs p.P104fs NM_014621 NP_055436 P09016 HXD4_HUMAN homeobox D4 104 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) ggcgcctccgccggcgcccct 0.562 NA 16 22 --- --- --- --- NA NA NA NA ZSWIM2 151112 broad.mit.edu 37 2 187703843 187703844 + Frame_Shift_Ins INS - - C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:187703843_187703844insC uc002upu.1 - 4 376_377 c.336_337insG c.(334-339)GGGATAfs p.G112fs NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 112_113 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ACTCGATGTATCCCCCGAAGCA 0.391 NA 111 214 --- --- --- --- NA NA NA NA ANO10 55129 broad.mit.edu 37 3 43474181 43474181 + Frame_Shift_Del DEL G G - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:43474181delG uc003cmv.2 - 12 2007 c.1836delC c.(1834-1836)GCCfs p.A612fs ANO10_uc011azs.1_Intron|ANO10_uc003cmw.2_Frame_Shift_Del_p.A546fs|ANO10_uc010hil.2_Frame_Shift_Del_p.A422fs|ANO10_uc011azt.1_Frame_Shift_Del_p.A501fs NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 612 Cytoplasmic (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 TATCAGGTATGGCAAATGCAA 0.423 NA 59 18 --- --- --- --- NA NA NA NA ITPR3 3710 broad.mit.edu 37 6 33657174 33657175 + Frame_Shift_Ins INS - - G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:33657174_33657175insG uc011drk.1 + 50 7073_7074 c.6854_6855insG c.(6853-6855)CTGfs p.L2285fs ITPR3_uc003oey.2_Frame_Shift_Ins_p.L372fs NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2285 Helical; (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CTCAACATCCTGGGTGCCCTCA 0.614 NA 38 73 --- --- --- --- NA NA NA NA JPH1 56704 broad.mit.edu 37 8 75233335 75233340 + In_Frame_Del DEL TAGCCC TAGCCC - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:75233335_75233340delTAGCCC uc003yae.2 - 1 223_228 c.183_188delGGGCTA c.(181-189)CAGGGCTAC>CAC p.61_63QGY>H JPH1_uc003yaf.2_In_Frame_Del_p.61_63QGY>H|JPH1_uc003yag.1_Intron NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 61_63 Gly-rich.|MORN 3.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CTGCGCCCAGTAGCCCTGGTAGGTGT 0.684 NA 11 41 --- --- --- --- NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21968233 21968233 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:21968233delC uc003zpk.2 - 3 678 c.466delG c.(466-468)GATfs p.D156fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 156 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(4) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TTCTTTCAATCGGGGATGTCT 0.562 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 31 14 --- --- --- --- NA NA NA NA RPS6KA3 6197 broad.mit.edu 37 X 20195158 20195159 + Frame_Shift_Del DEL CT CT - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:20195158_20195159delCT uc004czu.2 - 11 889_890 c.889_890delAG c.(889-891)AGTfs p.S297fs RPS6KA3_uc011mjk.1_Frame_Shift_Del_p.S268fs|RPS6KA3_uc004czv.2_Frame_Shift_Del_p.S285fs|RPS6KA3_uc011mjl.1_Frame_Shift_Del_p.S269fs|RPS6KA3_uc011mjm.1_Frame_Shift_Del_p.S269fs NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 297 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 TCGTAAAAGACTCTGCGCTTCA 0.307 NA 94 22 --- --- --- --- NA NA NA NA SLITRK4 139065 broad.mit.edu 37 X 142717956 142717957 + Frame_Shift_Ins INS - - T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:142717956_142717957insT uc004fbx.2 - 2 1344_1345 c.968_969insA c.(967-969)AACfs p.N323fs SLITRK4_uc004fby.2_Frame_Shift_Ins_p.N323fs NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 323 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGAGATTGCGGTTGGAGAGGGC 0.465 NA 128 29 --- --- --- --- NA NA NA NA