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 filter TARDBP 23435 broad.mit.edu 37 1 11077007 11077007 + Silent SNP A C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:11077007A>C uc001art.2 + 3 479 c.345A>C c.(343-345)ACA>ACC p.T115T TARDBP_uc010oap.1_Intron NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 115 RRM 1. Missing: Completely abolishes RNA binding. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) CATGGAAAACAACCGAACAGG 0.388 14 67 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11307700 11307700 + Nonsense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:11307700G>A uc001asd.2 - 8 1328 c.1207C>T c.(1207-1209)CGA>TGA p.R403* NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 403 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GCAGAAGGTCGGAATGCAGCC 0.478 17 48 --- --- --- --- PASS PRAMEF12 390999 broad.mit.edu 37 1 12837350 12837350 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:12837350G>T uc001aui.2 + 3 1087 c.1060G>T c.(1060-1062)GAC>TAC p.D354Y NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 354 LRR 2. ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCAGACCCTGGACTTAGAGGA 0.592 25 92 --- --- --- --- PASS ZBTB8A 653121 broad.mit.edu 37 1 33059073 33059073 + Missense_Mutation SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:33059073A>G uc001bvn.2 + 3 1026 c.541A>G c.(541-543)AAT>GAT p.N181D ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.N181D NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAATCTTGGAATAAGTATAA 0.418 15 47 --- --- --- --- PASS LHX8 431707 broad.mit.edu 37 1 75609574 75609574 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:75609574G>C uc001dgo.2 + 7 1319 c.655G>C c.(655-657)GTT>CTT p.V219L LHX8_uc001dgq.2_Missense_Mutation_p.V158L NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AGAGCAAGATGTTAACCATCC 0.413 13 53 --- --- --- --- PASS ZZZ3 26009 broad.mit.edu 37 1 78031388 78031388 + Silent SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:78031388G>A uc001dhq.2 - 15 3125 c.2649C>T c.(2647-2649)TAC>TAT p.Y883Y ZZZ3_uc001dhr.2_Silent_p.Y389Y|ZZZ3_uc001dhp.2_Silent_p.Y882Y NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 GAGACACACAGTAGTCTCTGT 0.378 11 38 --- --- --- --- PASS PTGFR 5737 broad.mit.edu 37 1 79002271 79002271 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:79002271G>T uc001din.2 + 3 1245 c.979G>T c.(979-981)GTC>TTC p.V327F PTGFR_uc001dim.2_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 327 Cytoplasmic (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TGGAGTGCATGTCATCAGCTT 0.393 12 57 --- --- --- --- PASS AMY2B 280 broad.mit.edu 37 1 104116399 104116399 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:104116399G>T uc001duq.2 + 6 1199 c.583G>T c.(583-585)GCC>TCC p.A195S AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.A195S|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 195 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TTCCAAGATTGCCGAATATAT 0.413 39 233 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144882752 144882752 + Silent SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:144882752G>A uc001elw.3 - 24 3558 c.3267C>T c.(3265-3267)ACC>ACT p.T1089T NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.T96T NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1089 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GACCCTCTTTGGTTACCACAG 0.493 T PDGFRB MPD 28 235 --- --- --- --- PASS LCE1B 353132 broad.mit.edu 37 1 152785226 152785226 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:152785226G>T uc001faq.2 + 1 780 c.304G>T c.(304-306)GGC>TGC p.G102C NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 102 Gly-rich. keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCCTCCGGGGGCTCCAGCTG 0.622 11 27 --- --- --- --- PASS INSRR 3645 broad.mit.edu 37 1 156814587 156814587 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:156814587T>C uc010pht.1 - 13 2740 c.2486A>G c.(2485-2487)AAG>AGG p.K829R NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 829 Fibronectin type-III 3.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GACACTGTTCTTGCTGGAGGC 0.592 11 38 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157514242 157514242 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:157514242C>G uc001fqu.2 - 5 812 c.654G>C c.(652-654)GAG>GAC p.E218D FCRL5_uc009wsm.2_Missense_Mutation_p.E218D|FCRL5_uc010phv.1_Missense_Mutation_p.E218D|FCRL5_uc010phw.1_Missense_Mutation_p.E133D|FCRL5_uc001fqv.1_Missense_Mutation_p.E218D|FCRL5_uc010phx.1_5'UTR NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 218 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CATCTGACCTCTCTAGAGAGA 0.567 28 109 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157514827 157514827 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:157514827G>T uc001fqu.2 - 4 511 c.353C>A c.(352-354)TCT>TAT p.S118Y FCRL5_uc009wsm.2_Missense_Mutation_p.S118Y|FCRL5_uc010phv.1_Missense_Mutation_p.S118Y|FCRL5_uc010phw.1_Missense_Mutation_p.S33Y|FCRL5_uc001fqv.1_Missense_Mutation_p.S118Y|FCRL5_uc010phx.1_Translation_Start_Site NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 118 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CAGAACCACAGAGTCTCCTTC 0.408 14 45 --- --- --- --- PASS CD1C 911 broad.mit.edu 37 1 158262495 158262495 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:158262495G>T uc001fru.2 + 4 1012 c.720G>T c.(718-720)ATG>ATT p.M240I CD1C_uc001frv.2_Missense_Mutation_p.M43I NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 240 Extracellular (Potential).|Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) TGACATGGATGCGGAATGAAC 0.542 10 78 --- --- --- --- PASS CD1B 910 broad.mit.edu 37 1 158299801 158299801 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:158299801C>T uc001frx.2 - 3 556 c.448G>A c.(448-450)GTG>ATG p.V150M CD1B_uc001frw.2_Missense_Mutation_p.V43M NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 150 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) GGGGAAGGCACACATGAAGCA 0.468 44 169 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158651411 158651411 + Missense_Mutation SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:158651411A>G uc001fst.1 - 4 636 c.437T>C c.(436-438)CTG>CCG p.L146P NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 146 Spectrin 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTCCAGGGTCAGCTCTAACAG 0.547 22 89 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158815386 158815386 + Missense_Mutation SNP A C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:158815386A>C uc001fsz.1 + 5 780 c.580A>C c.(580-582)ACC>CCC p.T194P NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 194 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) GAATCAGGAAACCCAGGCCCA 0.363 7 22 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160098516 160098516 + Silent SNP G T T rs55741021 TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:160098516G>T uc001fvc.2 + 9 1224 c.1092G>T c.(1090-1092)ACG>ACT p.T364T ATP1A2_uc001fvb.2_Silent_p.T364T|ATP1A2_uc010piz.1_Silent_p.T209T|ATP1A2_uc001fvd.2_Silent_p.T100T|ATP1A2_uc009wtg.1_Silent_p.T52T NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 364 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGGTGGAGACGCTGGGCTCCA 0.582 18 71 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175325455 175325455 + Missense_Mutation SNP G C C rs146606650 TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:175325455G>C uc001gkp.1 - 14 3199 c.3118C>G c.(3118-3120)CTC>GTC p.L1040V TNR_uc009wwu.1_Missense_Mutation_p.L1040V NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1040 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ATGTACTCACGAGTAGAAAAG 0.493 20 86 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175372396 175372396 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:175372396C>A uc001gkp.1 - 2 937 c.856G>T c.(856-858)GGC>TGC p.G286C TNR_uc009wwu.1_Missense_Mutation_p.G286C|TNR_uc010pmz.1_Missense_Mutation_p.G286C NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 286 Cys-rich.|EGF-like 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCAACGTAGCCCTCCTCGCAT 0.612 12 44 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180044231 180044231 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:180044231G>C uc001gnt.2 + 28 6025 c.5642G>C c.(5641-5643)CGT>CCT p.R1881P CEP350_uc009wxl.2_Missense_Mutation_p.R1880P|CEP350_uc001gnv.2_Missense_Mutation_p.R16P NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1881 Potential. centrosome|nucleus|spindle ovary(4) 4 TGGAAGCGACGTTTAGATGCA 0.428 15 42 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197316598 197316598 + Missense_Mutation SNP A C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:197316598A>C uc001gtz.2 + 4 1112 c.977A>C c.(976-978)CAC>CCC p.H326P CRB1_uc010poz.1_Missense_Mutation_p.H257P|CRB1_uc001gty.1_Missense_Mutation_p.H326P|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.H326P|CRB1_uc010ppc.1_RNA NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 326 Extracellular (Potential).|EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TACACTTGTCACTGCTGGCCT 0.373 13 40 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204951142 204951142 + Nonsense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:204951142G>T uc001hbj.2 + 21 2792 c.2464G>T c.(2464-2466)GAA>TAA p.E822* NFASC_uc010pra.1_Nonsense_Mutation_p.E818*|NFASC_uc001hbi.2_Nonsense_Mutation_p.E818*|NFASC_uc010prb.1_Nonsense_Mutation_p.E833*|NFASC_uc010prc.1_Nonsense_Mutation_p.E389*|NFASC_uc001hbk.1_Nonsense_Mutation_p.E628*|NFASC_uc001hbl.1_Nonsense_Mutation_p.E72* NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 822 Extracellular (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TTACTCCGGAGAAGATTGTGA 0.612 5 12 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233134126 233134126 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:233134126C>G uc001hvl.2 - 32 5897 c.5662G>C c.(5662-5664)GGA>CGA p.G1888R PCNXL2_uc001hvk.1_Missense_Mutation_p.G540R|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1888 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GCCCCTCCTCCGTCCACGTCT 0.617 8 22 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237604759 237604759 + Silent SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:237604759G>A uc001hyl.1 + 13 1266 c.1146G>A c.(1144-1146)GTG>GTA p.V382V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 382 Cytoplasmic (By similarity).|MIR 5. 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) TGAAATCCGTGAGAATGGGAT 0.348 16 83 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237778056 237778056 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:237778056A>T uc001hyl.1 + 37 5748 c.5628A>T c.(5626-5628)CAA>CAT p.Q1876H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1876 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) CAAAGCTGCAAGGAGCTGGTG 0.532 8 41 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237817703 237817703 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:237817703C>T uc001hyl.1 + 52 8074 c.7954C>T c.(7954-7956)CTG>TTG p.L2652L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2652 Modulator (Potential).|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) TTTTGATGCCCTGTCTCAAAA 0.383 6 28 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248201806 248201806 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:248201806G>C uc001idw.2 + 1 333 c.237G>C c.(235-237)AAG>AAC p.K79N OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTGTTCCAAAGAtggtttatg 0.299 32 157 --- --- --- --- PASS SH3BP5L 80851 broad.mit.edu 37 1 249106437 249106437 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr1:249106437G>A uc001iew.1 - 7 1396 c.844C>T c.(844-846)CAC>TAC p.H282Y SH3BP5L_uc010pzp.1_Missense_Mutation_p.H175Y|SH3BP5L_uc010pzq.1_Missense_Mutation_p.H250Y|SH3BP5L_uc001iev.1_Missense_Mutation_p.H163Y NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 282 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CCCAGGGGGTGGGGAGGCAGA 0.716 4 15 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1544431 1544431 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:1544431G>A uc002qww.2 + 16 2775 c.2684G>A c.(2683-2685)AGA>AAA p.R895K TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.R838K|TPO_uc002qwr.2_Missense_Mutation_p.R895K|TPO_uc002qwx.2_Missense_Mutation_p.R838K|TPO_uc010yio.1_Missense_Mutation_p.R722K|TPO_uc010yip.1_Missense_Mutation_p.R851K|TPO_uc002qwy.1_Missense_Mutation_p.R191K|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 895 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCCGAGCTGAGATGCGGAAAG 0.637 13 49 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11696853 11696853 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:11696853C>T uc002rbk.1 + 2 413 c.113C>T c.(112-114)TCC>TTC p.S38F GREB1_uc002rbl.2_Missense_Mutation_p.S38F|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.S38F NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 38 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCCATCTTTTCCCAGCTGTAC 0.522 5 38 --- --- --- --- PASS SFRS7 6432 broad.mit.edu 37 2 38975742 38975742 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:38975742C>T uc002rqz.2 - 4 678 c.440G>A c.(439-441)CGC>CAC p.R147H SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.R147H|GEMIN6_uc002rrb.2_5'Flank NM_001031684 NP_001026854 Q16629 SRSF7_HUMAN splicing factor, arginine/serine-rich 7 147 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding 0 all_hematologic(82;0.248) GCTCCTGCTGCGTGAGCGAGA 0.398 12 59 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63486509 63486509 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:63486509C>A uc002sch.2 - 14 2294 c.1848G>T c.(1846-1848)TTG>TTT p.L616F C2orf86_uc002sce.2_Intron|C2orf86_uc002scf.2_Missense_Mutation_p.L457F|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.L424F NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 616 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 CAGCTAGTGCCAATTCACCTT 0.358 11 48 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74043036 74043036 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:74043036C>T uc002sjr.1 + 3 1807 c.1686C>T c.(1684-1686)ATC>ATT p.I562I NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 562 Lys-rich. ovary(2) 2 CCAGCAGGATCAGCAAAACTA 0.473 9 40 --- --- --- --- PASS CD8A 925 broad.mit.edu 37 2 87017523 87017523 + Missense_Mutation SNP C A A rs121918660 TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:87017523C>A uc002srt.2 - 2 1220 c.331G>T c.(331-333)GGC>TGC p.G111C RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.G111C|CD8A_uc010ytn.1_Missense_Mutation_p.G152C|CD8A_uc002sru.2_Missense_Mutation_p.G111C NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 111 Ig-like V-type.|Extracellular (Potential). G -> S (in CD8 deficiency; prevents CD8 expression). G->R: Prevents CD8 expression. antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 AAATAGTAGCCCTCGTTCTCT 0.652 12 50 --- --- --- --- PASS LIMS1 3987 broad.mit.edu 37 2 109276214 109276214 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:109276214C>T uc002teg.2 + 2 269 c.150C>T c.(148-150)TTC>TTT p.F50F LIMS1_uc002tef.2_Silent_p.F62F|LIMS1_uc002teh.2_Silent_p.F50F|LIMS1_uc002tei.2_Silent_p.F50F|LIMS1_uc002tej.2_Silent_p.F87F|LIMS1_uc002tek.3_Silent_p.F112F NM_004987 NP_004978 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 50 LIM zinc-binding 1. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding 0 AAGGACTCTTCTATGAGGTGA 0.552 12 69 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116548748 116548748 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:116548748C>T uc002tla.1 + 18 2080 c.1623C>T c.(1621-1623)GAC>GAT p.D541D DPP10_uc002tlb.1_Silent_p.D491D|DPP10_uc002tlc.1_Silent_p.D537D|DPP10_uc002tle.2_Silent_p.D545D|DPP10_uc002tlf.1_Silent_p.D534D NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 541 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TTCATATTGACGACTATGGTA 0.328 5 47 --- --- --- --- PASS WDR33 55339 broad.mit.edu 37 2 128522490 128522490 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:128522490C>A uc002tpg.1 - 6 721 c.538G>T c.(538-540)GAC>TAC p.D180Y WDR33_uc002tph.1_Missense_Mutation_p.D180Y|WDR33_uc002tpi.1_Missense_Mutation_p.D180Y NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 180 WD 2. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CCTCCGTGGTCTGCTGTCAAC 0.468 8 45 --- --- --- --- PASS ARHGAP15 55843 broad.mit.edu 37 2 144194488 144194488 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:144194488G>T uc002tvm.3 + 8 731 c.580G>T c.(580-582)GAT>TAT p.D194Y ARHGAP15_uc010zbl.1_Missense_Mutation_p.D194Y|ARHGAP15_uc002tvn.2_5'UTR NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 194 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) CCAGCCAAAGGATTCAAGTTG 0.333 9 33 --- --- --- --- PASS CACNB4 785 broad.mit.edu 37 2 152732997 152732997 + Missense_Mutation SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:152732997A>G uc002tya.2 - 5 532 c.464T>C c.(463-465)CTC>CCC p.L155P CACNB4_uc002txy.2_Missense_Mutation_p.L121P|CACNB4_uc002txz.2_Missense_Mutation_p.L137P|CACNB4_uc010fnz.2_Missense_Mutation_p.L155P|CACNB4_uc002tyb.2_Missense_Mutation_p.L121P NM_000726 NP_000717 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 155 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) CTCCAATCTGAGTGGACTTGG 0.398 10 31 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167330361 167330361 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:167330361C>T uc002udu.1 - 4 518 c.391G>A c.(391-393)GAT>AAT p.D131N SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 131 Helical; Name=S1 of repeat I; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 AATACGCAATCAATCAGGACA 0.219 8 30 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179616205 179616205 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:179616205G>A uc002unb.2 - 46 11146 c.10922C>T c.(10921-10923)CCC>CTC p.P3641L TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGTTAAAGGGAGAGCCAGT 0.373 19 80 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206480475 206480475 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:206480475G>C uc002var.1 + 23 3763 c.3556G>C c.(3556-3558)GAC>CAC p.D1186H PARD3B_uc002vao.1_Missense_Mutation_p.D1085H|PARD3B_uc002vap.1_Missense_Mutation_p.D1124H|PARD3B_uc002vaq.1_Missense_Mutation_p.D1117H|uc010fuc.1_5'Flank NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 1186 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGGCAGCCCAGACCAGTACCC 0.617 11 49 --- --- --- --- PASS IKZF2 22807 broad.mit.edu 37 2 213886856 213886856 + Splice_Site SNP T A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:213886856T>A uc002vem.2 - 6 744 c.575_splice c.e6-1 p.V192_splice IKZF2_uc010fuu.2_Splice_Site_p.M47_splice|IKZF2_uc002vej.2_Splice_Site_p.V139_splice|IKZF2_uc002vek.2_Splice_Site|IKZF2_uc010fuv.2_Splice_Site_p.V166_splice|IKZF2_uc002vel.2_Splice_Site_p.V113_splice|IKZF2_uc010fuw.2_Splice_Site|IKZF2_uc010fux.2_Splice_Site|IKZF2_uc010fuy.2_Intron|IKZF2_uc002ven.2_Splice_Site_p.V166_splice NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GTTTACCCACTGTGAAGAGAA 0.443 11 44 --- --- --- --- PASS ATIC 471 broad.mit.edu 37 2 216190789 216190789 + Silent SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:216190789G>C uc002vex.3 + 6 633 c.459G>C c.(457-459)GTG>GTC p.V153V ATIC_uc010zjo.1_Silent_p.V94V|ATIC_uc002vey.3_Silent_p.V152V NM_004044 NP_004035 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide 153 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1) 29 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) ACTATGTGGTGGTGTCCACGG 0.493 T ALK ALCL 6 43 --- --- --- --- PASS FAM124B 79843 broad.mit.edu 37 2 225266389 225266389 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:225266389C>G uc002vnx.2 - 1 323 c.97G>C c.(97-99)GAT>CAT p.D33H FAM124B_uc002vnw.2_Missense_Mutation_p.D33H NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 33 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) CAAATGCAATCCAGGAGCTGG 0.572 12 41 --- --- --- --- PASS UGT1A4 54657 broad.mit.edu 37 2 234628211 234628211 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:234628211G>T uc002vux.2 + 1 774 c.745G>T c.(745-747)GTC>TTC p.V249F UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.V249F NM_007120 NP_009051 P22310 UD14_HUMAN UDP glycosyltransferase 1 family, polypeptide A4 249 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831) GGTGGATCTTGTCAGCTATGC 0.527 32 121 --- --- --- --- PASS OR6B2 389090 broad.mit.edu 37 2 240968955 240968955 + Nonsense_Mutation SNP T A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:240968955T>A uc002vyr.2 - 2 938 c.892A>T c.(892-894)AAG>TAG p.K298* OR6B2_uc010zoc.1_Nonsense_Mutation_p.K298* NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) AAGGCGTCCTTAAATTCCTTG 0.418 16 97 --- --- --- --- PASS MTERFD2 130916 broad.mit.edu 37 2 242039030 242039030 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:242039030C>G uc002wan.1 - 1 881 c.388G>C c.(388-390)GAC>CAC p.D130H MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.D101H NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 101 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) AAACCCATGTCCAGGAGGGAA 0.488 24 99 --- --- --- --- PASS PASK 23178 broad.mit.edu 37 2 242054777 242054777 + Nonsense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr2:242054777C>A uc002wao.1 - 13 3216 c.3124G>T c.(3124-3126)GAG>TAG p.E1042* PASK_uc010zol.1_Nonsense_Mutation_p.E856*|PASK_uc010zom.1_Nonsense_Mutation_p.E1007*|PASK_uc010fzl.1_Nonsense_Mutation_p.E1042*|PASK_uc010zon.1_Nonsense_Mutation_p.E823*|PASK_uc002wap.2_Nonsense_Mutation_p.E585*|PASK_uc002waq.2_Nonsense_Mutation_p.E1042* NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 1042 Protein kinase. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TTGGGATCCTCAATCCAACAA 0.463 11 66 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38835434 38835434 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:38835434T>C uc003ciq.2 - 1 68 c.68A>G c.(67-69)GAG>GGG p.E23G NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 23 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTTCTCTATCTCCACCAGTGA 0.488 24 83 --- --- --- --- PASS CSRNP1 64651 broad.mit.edu 37 3 39184890 39184890 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:39184890C>T uc003cjg.2 - 5 1640 c.1426G>A c.(1426-1428)GGC>AGC p.G476S CSRNP1_uc003cjh.2_Missense_Mutation_p.G476S NM_033027 NP_149016 Q96S65 CSRN1_HUMAN AXIN1 up-regulated 1 476 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(4)|skin(1) 5 GGAAGGCTGCCTTCCCTTGAC 0.552 5 20 --- --- --- --- PASS ATRIP 84126 broad.mit.edu 37 3 48506925 48506925 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:48506925T>C uc003ctf.1 + 13 2380 c.2348T>C c.(2347-2349)GTG>GCG p.V783A ATRIP_uc011bbj.1_Missense_Mutation_p.V656A|ATRIP_uc003ctg.1_Missense_Mutation_p.V756A|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN ATR interacting protein isoform 1 783 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAAACCGATGTGGAAGACCCC 0.592 Other_conserved_DNA_damage_response_genes OREG0015557 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 32 --- --- --- --- PASS DAG1 1605 broad.mit.edu 37 3 49548205 49548205 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:49548205G>T uc003cxc.3 + 2 656 c.238G>T c.(238-240)GTG>TTG p.V80L NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 80 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CTCATTTCGAGTGACCATTCC 0.488 7 17 --- --- --- --- PASS STXBP5L 9515 broad.mit.edu 37 3 120977942 120977942 + Missense_Mutation SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:120977942A>G uc003eec.3 + 18 2025 c.1885A>G c.(1885-1887)ATT>GTT p.I629V STXBP5L_uc011bji.1_Missense_Mutation_p.I629V NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 629 WD 9. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AGAACTTGTTATTCAATTGGT 0.363 18 54 --- --- --- --- PASS PIK3R4 30849 broad.mit.edu 37 3 130442333 130442333 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:130442333G>C uc003enj.2 - 7 2487 c.1906C>G c.(1906-1908)CTT>GTT p.L636V NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 636 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 AGGGCATAAAGAGCTTTCACA 0.423 13 61 --- --- --- --- PASS SLCO2A1 6578 broad.mit.edu 37 3 133692622 133692622 + Silent SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:133692622C>A uc003eqa.3 - 3 556 c.282G>T c.(280-282)CGG>CGT p.R94R SLCO2A1_uc003eqb.3_Silent_p.R94R|SLCO2A1_uc011blv.1_Silent_p.R94R|SLCO2A1_uc010htw.1_5'UTR NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 94 Cytoplasmic (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 GACGGTGCACCCGGCTGCCAA 0.572 6 24 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164712183 164712183 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:164712183G>T uc003fei.2 - 41 4765 c.4703C>A c.(4702-4704)CCC>CAC p.P1568H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1568 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCAGGAAGCGGGATCTTGTCT 0.299 HNSCC(35;0.089) 15 71 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170857278 170857278 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:170857278T>C uc003fhh.2 - 14 1745 c.1400A>G c.(1399-1401)CAT>CGT p.H467R TNIK_uc003fhi.2_Missense_Mutation_p.H467R|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Missense_Mutation_p.H467R|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Missense_Mutation_p.H467R|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 467 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AGCTTGTTCATGCAGTAGCTG 0.408 28 120 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183685506 183685506 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:183685506G>C uc003fmg.2 - 12 1975 c.1810C>G c.(1810-1812)CTC>GTC p.L604V ABCC5_uc011bqt.1_Missense_Mutation_p.L132V|ABCC5_uc010hxl.2_Missense_Mutation_p.L604V NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 604 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCTGAAATGAGAGAGGTTTTT 0.433 29 290 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195505742 195505742 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:195505742G>C uc011bto.1 - 3 12785 c.12325C>G c.(12325-12327)CAC>GAC p.H4109D MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_5'UTR|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_5'UTR|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.H849D NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 994 Ser-rich. 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) GGGGTGGCGTGACCTGTGGAT 0.587 5 31 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8602977 8602977 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:8602977C>A uc003glm.2 + 3 375 c.249C>A c.(247-249)AGC>AGA p.S83R CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.S72R|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 83 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 TCCTGCTGAGCGTTCTACACC 0.662 4 48 --- --- --- --- PASS SLC2A9 56606 broad.mit.edu 37 4 9998458 9998458 + Silent SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:9998458G>A uc003gmc.2 - 3 418 c.357C>T c.(355-357)ATC>ATT p.I119I SLC2A9_uc003gmd.2_Silent_p.I90I NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 119 Helical; Name=2; (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 CAAGTCCACCGATGGCGAATA 0.493 10 47 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20533637 20533637 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:20533637G>T uc003gpr.1 + 17 1848 c.1644G>T c.(1642-1644)TTG>TTT p.L548F SLIT2_uc003gps.1_Missense_Mutation_p.L540F NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 548 LRR 12. 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 TTACCGTGTTGGAAGCCACAG 0.303 5 26 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22444340 22444340 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:22444340C>T uc003gqm.1 - 7 1118 c.853G>A c.(853-855)GAA>AAA p.E285K GPR125_uc010ieo.1_Missense_Mutation_p.E159K|GPR125_uc003gqn.1_Missense_Mutation_p.E59K|GPR125_uc003gqo.2_Missense_Mutation_p.E285K NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 285 Extracellular (Potential).|Ig-like. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) TCATCGGTTTCAACTATTCTC 0.373 8 41 --- --- --- --- PASS APBB2 323 broad.mit.edu 37 4 41016138 41016138 + Silent SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:41016138C>A uc003gvl.2 - 6 927 c.297G>T c.(295-297)CTG>CTT p.L99L APBB2_uc003gvm.2_Silent_p.L99L|APBB2_uc003gvn.2_Silent_p.L99L|APBB2_uc011byt.1_Silent_p.L82L NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 99 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 CATTTTTCACCAGCTTGATGT 0.542 9 44 --- --- --- --- PASS BEND4 389206 broad.mit.edu 37 4 42145770 42145770 + Silent SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:42145770A>G uc003gwn.2 - 3 1309 c.729T>C c.(727-729)TCT>TCC p.S243S BEND4_uc003gwm.2_Silent_p.S243S|BEND4_uc011byy.1_Silent_p.S243S NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 243 0 TCAAAAAGGCAGAAGTTTGTT 0.463 10 64 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46067427 46067427 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:46067427G>T uc003gxb.2 - 4 648 c.496C>A c.(496-498)CGT>AGT p.R166S NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 166 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CGAAGCAGACGATTAGGAGTT 0.338 12 60 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46067487 46067487 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:46067487G>T uc003gxb.2 - 4 588 c.436C>A c.(436-438)CCT>ACT p.P146T NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 146 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AAAGTGTCAGGAATCCAAATT 0.358 4 52 --- --- --- --- PASS UGT2B10 7365 broad.mit.edu 37 4 69682026 69682026 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:69682026T>C uc003hee.2 + 1 314 c.289T>C c.(289-291)TCA>CCA p.S97P UGT2B10_uc011cam.1_Missense_Mutation_p.S97P NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 97 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TAAGAGATTGTCAGAAATTCA 0.313 14 58 --- --- --- --- PASS GRSF1 2926 broad.mit.edu 37 4 71702001 71702001 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:71702001G>C uc010iia.1 - 2 471 c.388C>G c.(388-390)CCA>GCA p.P130A GRSF1_uc011caz.1_Missense_Mutation_p.P12A|GRSF1_uc003hfs.2_5'UTR NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 130 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) GGGGGTGGTGGAAGGTCTTCC 0.413 6 54 --- --- --- --- PASS PRKG2 5593 broad.mit.edu 37 4 82065400 82065400 + Missense_Mutation SNP T G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:82065400T>G uc003hmh.2 - 9 1253 c.1239A>C c.(1237-1239)GAA>GAC p.E413D PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.E413D NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 413 cGMP 2. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 CATGTCTTTTTTCATCATCAC 0.423 9 46 --- --- --- --- PASS NKX6-1 4825 broad.mit.edu 37 4 85414579 85414579 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:85414579C>A uc003hpa.1 - 3 973 c.967G>T c.(967-969)GAC>TAC p.D323Y NM_006168 NP_006159 P78426 NKX61_HUMAN NK6 transcription factor related, locus 1 323 Involved in DNA-binding (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) TAGTCGTCGTCCTCTTCCTCG 0.607 14 91 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94693265 94693265 + Silent SNP T A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:94693265T>A uc011cdt.1 + 16 2898 c.2640T>A c.(2638-2640)CGT>CGA p.R880R GRID2_uc011cdu.1_Silent_p.R785R NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 880 Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCCATAGACGTGTAAATAGCT 0.423 19 81 --- --- --- --- PASS USP38 84640 broad.mit.edu 37 4 144109067 144109067 + Silent SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:144109067T>C uc003ijb.2 + 2 1305 c.771T>C c.(769-771)ACT>ACC p.T257T USP38_uc003ija.3_Silent_p.T257T|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 257 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) GGAGCCTTACTACGGATCCAA 0.403 6 34 --- --- --- --- PASS ZNF827 152485 broad.mit.edu 37 4 146770699 146770699 + Nonsense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:146770699C>A uc003ikn.2 - 6 2044 c.1996G>T c.(1996-1998)GAA>TAA p.E666* ZNF827_uc003ikm.2_Nonsense_Mutation_p.E666*|ZNF827_uc010iox.2_Nonsense_Mutation_p.E316* NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 666 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) ATCTGTGTTTCCTTGTAGCTT 0.443 25 93 --- --- --- --- PASS KIAA0922 23240 broad.mit.edu 37 4 154548808 154548808 + Silent SNP T A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:154548808T>A uc003inm.3 + 31 4225 c.4173T>A c.(4171-4173)CCT>CCA p.P1391P KIAA0922_uc010ipp.2_Silent_p.P1392P|KIAA0922_uc010ipq.2_Silent_p.P1160P NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1391 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CCAGCCTTCCTGCCGGGCCCA 0.532 5 27 --- --- --- --- PASS KLKB1 3818 broad.mit.edu 37 4 187178488 187178488 + Missense_Mutation SNP G A A rs150832692 TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr4:187178488G>A uc003iyy.2 + 14 1765 c.1694G>A c.(1693-1695)GGC>GAC p.G565D KLKB1_uc011clc.1_Missense_Mutation_p.G363D|KLKB1_uc011cld.1_Intron NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 565 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GTCTGTGCTGGCTATAAAGAA 0.318 11 79 --- --- --- --- PASS ZNF622 90441 broad.mit.edu 37 5 16451871 16451871 + Silent SNP T G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr5:16451871T>G uc003jfq.2 - 6 1449 c.1329A>C c.(1327-1329)CGA>CGC p.R443R NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 443 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 ACTGCATGTCTCGCTCTCGCA 0.433 38 78 --- --- --- --- PASS SLC45A2 51151 broad.mit.edu 37 5 33982512 33982512 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr5:33982512T>C uc003jid.2 - 2 483 c.391A>G c.(391-393)ATT>GTT p.I131V SLC45A2_uc003jie.2_Missense_Mutation_p.I131V|SLC45A2_uc003jif.3_Missense_Mutation_p.I131V|SLC45A2_uc011coe.1_Missense_Mutation_p.I131V NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 131 Helical; Name=3; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GGGTTAGCAATCAAAGCTAAA 0.398 7 28 --- --- --- --- PASS PCYOX1L 78991 broad.mit.edu 37 5 148745559 148745559 + Silent SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr5:148745559C>G uc003lqk.2 + 4 587 c.525C>G c.(523-525)CTC>CTG p.L175L PCYOX1L_uc003lql.2_Silent_p.L158L|PCYOX1L_uc010jgz.2_Intron|PCYOX1L_uc003lqm.2_Silent_p.L57L|PCYOX1L_uc003lqn.2_Silent_p.L85L NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 175 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGCTGCTCTACTCACTGG 0.547 14 38 --- --- --- --- PASS ANXA6 309 broad.mit.edu 37 5 150505989 150505989 + Nonsense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr5:150505989C>A uc003ltl.1 - 14 1182 c.1030G>T c.(1030-1032)GAA>TAA p.E344* ANXA6_uc011dcp.1_Nonsense_Mutation_p.E312*|ANXA6_uc003ltm.1_Nonsense_Mutation_p.E344*|ANXA6_uc003ltn.1_Nonsense_Mutation_p.E137*|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 344 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACTAAGTTCCCACATCTGA 0.572 OREG0016946 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 11 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169474568 169474568 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr5:169474568G>C uc003maf.2 + 40 4101 c.4021G>C c.(4021-4023)GAC>CAC p.D1341H DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.D833H NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1341 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCCAAACCAGACTACTTTGC 0.507 9 29 --- --- --- --- PASS FBXW11 23291 broad.mit.edu 37 5 171305017 171305017 + Silent SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr5:171305017C>A uc003mbm.1 - 7 1277 c.906G>T c.(904-906)GTG>GTT p.V302V FBXW11_uc011dey.1_Silent_p.V270V|FBXW11_uc003mbl.1_Silent_p.V289V|FBXW11_uc003mbn.1_Silent_p.V268V NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 302 WD 2. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCACTCACCTCACCGTAGAAT 0.458 13 32 --- --- --- --- PASS PHACTR1 221692 broad.mit.edu 37 6 13053641 13053641 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:13053641G>A uc010jpc.2 + 5 627 c.295G>A c.(295-297)GTC>ATC p.V99I PHACTR1_uc011dir.1_Missense_Mutation_p.V99I|PHACTR1_uc003nag.1_Missense_Mutation_p.V99I|PHACTR1_uc003nah.1_Missense_Mutation_p.V99I NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 99 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGACTCCCTCGTCCCAGGCAC 0.478 8 19 --- --- --- --- PASS BTN2A2 10385 broad.mit.edu 37 6 26385438 26385438 + Missense_Mutation SNP G A A rs144702884 byFrequency TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:26385438G>A uc003nhq.2 + 3 376 c.290G>A c.(289-291)CGG>CAG p.R97Q BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Missense_Mutation_p.R97Q|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.R97Q|BTN2A2_uc003nht.2_Missense_Mutation_p.R97Q NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 97 Extracellular (Potential).|Ig-like V-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 GAGGAGTACCGGGGAAGAATC 0.552 22 64 --- --- --- --- PASS HIST1H2AH 85235 broad.mit.edu 37 6 27115008 27115008 + Missense_Mutation SNP T G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:27115008T>G uc003niz.2 + 1 101 c.101T>G c.(100-102)CTG>CGG p.L34R HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 34 nucleosome assembly nucleosome|nucleus DNA binding 0 GTGCACCGCCTGCTCCGCAAG 0.652 10 47 --- --- --- --- PASS PGBD1 84547 broad.mit.edu 37 6 28268508 28268508 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:28268508G>T uc003nky.2 + 7 1247 c.877G>T c.(877-879)GCA>TCA p.A293S PGBD1_uc003nkz.2_Missense_Mutation_p.A293S NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 293 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CAGAGAGTGTGCACCCCAGAT 0.423 6 62 --- --- --- --- PASS OR2W1 26692 broad.mit.edu 37 6 29012694 29012694 + Nonsense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:29012694C>A uc003nlw.2 - 1 259 c.259G>T c.(259-261)GGA>TGA p.G87* NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TTATCAGGTCCCCACAAGTTG 0.438 8 48 --- --- --- --- PASS C6orf10 10665 broad.mit.edu 37 6 32261379 32261379 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:32261379C>T uc011dpy.1 - 12 1244 c.1071G>A c.(1069-1071)GGG>GGA p.G357G C6orf10_uc011dpx.1_Silent_p.G139G NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 357 integral to membrane skin(1) 1 GTACAACCAACCCACTCTTCG 0.478 36 87 --- --- --- --- PASS FTSJD2 23070 broad.mit.edu 37 6 37420895 37420895 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:37420895C>G uc003ons.2 + 7 935 c.682C>G c.(682-684)CGA>GGA p.R228G FTSJD2_uc010jwu.2_Intron NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 228 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TGAGATGATCCGAGGAGTCTT 0.507 15 74 --- --- --- --- PASS CENPQ 55166 broad.mit.edu 37 6 49459937 49459937 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:49459937G>T uc003ozh.1 + 9 845 c.756G>T c.(754-756)AAG>AAT p.K252N NM_018132 NP_060602 Q7L2Z9 CENPQ_HUMAN centromere protein Q 252 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 Lung NSC(77;0.0128) CACAGATGAAGAGCATGTCAA 0.323 7 30 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70909429 70909429 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:70909429C>G uc003pfc.1 + 49 3329 c.3212C>G c.(3211-3213)CCT>CGT p.P1071R NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1071 Triple-helical region 6 (COL6). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CCAGGAGACCCTGGACCCCAA 0.468 17 24 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84910599 84910599 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:84910599G>C uc010kbp.2 - 9 840 c.743C>G c.(742-744)TCT>TGT p.S248C KIAA1009_uc003pkj.3_Missense_Mutation_p.S172C|KIAA1009_uc003pkk.2_Missense_Mutation_p.S248C NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 248 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CTCTGCAACAGAGTCTAATGA 0.333 17 82 --- --- --- --- PASS HACE1 57531 broad.mit.edu 37 6 105259227 105259227 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:105259227C>A uc003pqu.1 - 7 853 c.576G>T c.(574-576)AGG>AGT p.R192S HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.R192S NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 192 ANK 4. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) ATACATTTGGCCTGTTAATAT 0.313 17 61 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109867265 109867265 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:109867265C>T uc003ptn.2 - 26 3107 c.3030G>A c.(3028-3030)CAG>CAA p.Q1010Q AKD1_uc011eat.1_Silent_p.Q89Q NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1010 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TTTCTGCCAACTGTCTTCCAC 0.448 12 89 --- --- --- --- PASS C6orf204 387119 broad.mit.edu 37 6 118791756 118791756 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:118791756C>T uc003pxz.1 - 11 2554 c.1966G>A c.(1966-1968)GAA>AAA p.E656K NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 656 Potential. centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TCCAGCTCTTCCATCATCTTT 0.318 13 34 --- --- --- --- PASS C6orf204 387119 broad.mit.edu 37 6 118887127 118887127 + Silent SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:118887127T>C uc003pxz.1 - 3 1173 c.585A>G c.(583-585)CAA>CAG p.Q195Q C6orf204_uc003pya.1_Silent_p.Q198Q|C6orf204_uc003pyb.2_Silent_p.Q195Q|C6orf204_uc011ebj.1_Silent_p.Q93Q|C6orf204_uc003pyc.2_Silent_p.Q198Q|C6orf204_uc011ebl.1_Silent_p.Q93Q NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 195 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TTGTCCTCAGTTGTGATGTTA 0.453 15 53 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165842174 165842174 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:165842174G>A uc003qun.2 - 11 1038 c.797C>T c.(796-798)GCA>GTA p.A266V PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.A196V|PDE10A_uc003quo.2_Missense_Mutation_p.A276V NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 266 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) AGAATCTATTGCAACTATGTT 0.308 7 19 --- --- --- --- PASS MLLT4 4301 broad.mit.edu 37 6 168311987 168311987 + Missense_Mutation SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr6:168311987A>G uc003qwd.2 + 15 1994 c.1852A>G c.(1852-1854)ATT>GTT p.I618V MLLT4_uc003qwb.1_Missense_Mutation_p.I603V|MLLT4_uc003qwc.1_Missense_Mutation_p.I619V|MLLT4_uc003qwf.2_Missense_Mutation_p.I304V|MLLT4_uc003qwg.1_5'Flank NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 619 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTTGTCTGCCATTATAAATTA 0.328 T MLL AL 44 75 --- --- --- --- PASS MAD1L1 8379 broad.mit.edu 37 7 2269698 2269698 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:2269698C>A uc003slh.1 - 3 337 c.71G>T c.(70-72)CGT>CTT p.R24L MAD1L1_uc003slf.1_Missense_Mutation_p.R24L|MAD1L1_uc003slg.1_Missense_Mutation_p.R24L|MAD1L1_uc010ksh.1_Missense_Mutation_p.R24L|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.R24L|MAD1L1_uc010ksj.2_Missense_Mutation_p.R24L NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 24 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TCCCTCCACACGCTGAGAGAT 0.537 9 12 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21744181 21744181 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:21744181G>C uc003svc.2 + 39 6455 c.6424G>C c.(6424-6426)GAA>CAA p.E2142Q NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2142 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 GCTGCACTTTGAACAGATGGT 0.537 Kartagener_syndrome 18 37 --- --- --- --- PASS ZPBP 11055 broad.mit.edu 37 7 50057903 50057903 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:50057903A>T uc003tou.2 - 6 786 c.716T>A c.(715-717)CTA>CAA p.L239Q ZPBP_uc011kci.1_Missense_Mutation_p.L165Q|ZPBP_uc010kyw.2_Missense_Mutation_p.L238Q NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 239 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TTCAGTGTCTAGAGATGAAAC 0.299 4 21 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963726 88963726 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:88963726C>A uc011khi.1 + 4 1968 c.1430C>A c.(1429-1431)CCA>CAA p.P477Q NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 477 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GGCTGCAACCCACTGTATTTT 0.428 HNSCC(36;0.09) 17 31 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100686315 100686315 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:100686315G>A uc003uxp.1 + 3 11671 c.11618G>A c.(11617-11619)AGC>AAC p.S3873N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3873 Extracellular (Potential). 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) AGTGAAAGAAGCACTCCATTA 0.473 25 69 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101847741 101847741 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:101847741A>T uc003uyx.3 + 19 3016 c.2978A>T c.(2977-2979)CAG>CTG p.Q993L CUX1_uc003uys.3_Missense_Mutation_p.Q1004L|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 993 CUT 2. 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 AAGCTGACGCAGAAAGGCCGA 0.632 22 56 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122047684 122047684 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:122047684C>A uc010lkp.2 - 19 2819 c.2656G>T c.(2656-2658)GAT>TAT p.D886Y CADPS2_uc011knx.1_Missense_Mutation_p.D261Y|CADPS2_uc003vkg.3_Missense_Mutation_p.D580Y|CADPS2_uc010lkq.2_Missense_Mutation_p.D880Y NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 886 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 GTGTCCATATCCACTGTAAAT 0.403 9 20 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700549 136700549 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:136700549G>T uc003vtf.1 + 4 1560 c.937G>T c.(937-939)GGC>TGC p.G313C CHRM2_uc003vtg.1_Missense_Mutation_p.G313C|CHRM2_uc003vtj.1_Missense_Mutation_p.G313C|CHRM2_uc003vtk.1_Missense_Mutation_p.G313C|CHRM2_uc003vtl.1_Missense_Mutation_p.G313C|CHRM2_uc003vtm.1_Missense_Mutation_p.G313C|CHRM2_uc003vti.1_Missense_Mutation_p.G313C|CHRM2_uc003vto.1_Missense_Mutation_p.G313C|CHRM2_uc003vtn.1_Missense_Mutation_p.G313C|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 313 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CACTTCCCTGGGCCATTCCAA 0.463 34 58 --- --- --- --- PASS WDR60 55112 broad.mit.edu 37 7 158705762 158705762 + Silent SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr7:158705762G>T uc003woe.3 + 13 1835 c.1677G>T c.(1675-1677)CCG>CCT p.P559P WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.P191P NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 559 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CCCAGCACCCGGGAGAAAGTA 0.378 12 26 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3224705 3224705 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr8:3224705C>T uc011kwk.1 - 20 3357 c.2967G>A c.(2965-2967)GAG>GAA p.E989E CSMD1_uc011kwj.1_Silent_p.E381E|CSMD1_uc003wqe.2_Silent_p.E145E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 989 Extracellular (Potential).|CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AACTTCCATCCTCTGTGATCA 0.468 4 40 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41554238 41554238 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr8:41554238C>T uc003xok.2 - 25 2775 c.2691G>A c.(2689-2691)GAG>GAA p.E897E NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.E213E|ANK1_uc003xoi.2_Silent_p.E897E|ANK1_uc003xoj.2_Silent_p.E897E|ANK1_uc003xol.2_Silent_p.E897E|ANK1_uc003xom.2_Silent_p.E938E NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 897 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGTCTGAGGTCTCGGTGGCCG 0.647 10 16 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61654299 61654299 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr8:61654299C>T uc003xue.2 + 2 785 c.308C>T c.(307-309)TCG>TTG p.S103L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 103 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCTCCGCACTCGCAGTATCAC 0.547 15 26 --- --- --- --- PASS LRRCC1 85444 broad.mit.edu 37 8 86050585 86050585 + Silent SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr8:86050585G>C uc003ycw.2 + 17 2869 c.2715G>C c.(2713-2715)CGG>CGC p.R905R LRRCC1_uc003ycx.2_Silent_p.R812R|LRRCC1_uc003ycy.2_Silent_p.R885R NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 905 cell division|mitosis centriole|nucleus 0 CACTGAATCGGAAGTGGCATG 0.289 18 53 --- --- --- --- PASS AZIN1 51582 broad.mit.edu 37 8 103848592 103848592 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr8:103848592T>C uc003ykx.2 - 7 1218 c.476A>G c.(475-477)GAT>GGT p.D159G AZIN1_uc003yky.2_Missense_Mutation_p.D159G NM_015878 NP_056962 O14977 AZIN1_HUMAN ornithine decarboxylase antizyme inhibitor 159 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding 0 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) TCCAATATTATCTTCTGTTGC 0.413 22 77 --- --- --- --- PASS RLN2 6019 broad.mit.edu 37 9 5300281 5300281 + Silent SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr9:5300281G>C uc003zja.1 - 2 375 c.375C>G c.(373-375)CTC>CTG p.L125L RLN2_uc003ziz.1_3'UTR NM_134441 NP_604390 P04090 REL2_HUMAN relaxin 2 isoform 1 preproprotein 125 female pregnancy extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) ATTCTTCAAAGAGAAGACTGG 0.398 13 45 --- --- --- --- PASS OR13F1 138805 broad.mit.edu 37 9 107267037 107267037 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr9:107267037C>A uc011lvm.1 + 1 494 c.494C>A c.(493-495)CCA>CAA p.P165Q NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 TCTGTGCTGCCACTGTCTCTC 0.473 17 32 --- --- --- --- PASS TOR1B 27348 broad.mit.edu 37 9 132565604 132565604 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr9:132565604C>T uc004byk.1 + 1 173 c.113C>T c.(112-114)TCG>TTG p.S38L NM_014506 NP_055321 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) precursor 38 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding 0 Ovarian(14;0.0586) GGGGCCGCGTCGGCCATCACC 0.736 4 4 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30336572 30336572 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:30336572C>T uc001iux.2 - 1 229 c.170G>A c.(169-171)CGT>CAT p.R57H KIAA1462_uc001iuy.2_Missense_Mutation_p.R57H|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.R57H NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 57 ovary(4) 4 GGACGTCTTACGATGTGCGAG 0.662 12 38 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31809073 31809073 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:31809073C>T uc001ivs.3 + 7 873 c.810C>T c.(808-810)TGC>TGT p.C270C ZEB1_uc001ivr.3_Silent_p.C52C|ZEB1_uc010qee.1_Silent_p.C52C|ZEB1_uc010qef.1_Silent_p.C52C|ZEB1_uc009xlj.1_Silent_p.C196C|ZEB1_uc010qeg.1_Silent_p.C129C|ZEB1_uc009xlk.1_Silent_p.C52C|ZEB1_uc001ivt.3_Silent_p.C52C|ZEB1_uc001ivu.3_Silent_p.C271C|ZEB1_uc001ivv.3_Silent_p.C250C|ZEB1_uc010qeh.1_Silent_p.C203C|ZEB1_uc009xlo.1_Silent_p.C253C|ZEB1_uc009xlp.2_Silent_p.C254C NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 270 C2H2-type 4; atypical. cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) CATATGAATGCCCAAACTGCA 0.358 8 19 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37431132 37431132 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:37431132C>T uc001iza.1 + 7 1238 c.1139C>T c.(1138-1140)TCT>TTT p.S380F NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 436 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AGAGTAACATCTAATAAAACT 0.388 27 64 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49431303 49431303 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:49431303G>C uc001jgi.2 - 11 1286 c.1179C>G c.(1177-1179)TTC>TTG p.F393L FRMPD2_uc001jgh.2_Missense_Mutation_p.F362L|FRMPD2_uc001jgj.2_Missense_Mutation_p.F371L NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 393 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CCAGGAAAAAGAACTCTTTGC 0.478 8 36 --- --- --- --- PASS C10orf71 118461 broad.mit.edu 37 10 50532080 50532080 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:50532080C>A uc010qgp.1 + 3 1829 c.1490C>A c.(1489-1491)CCT>CAT p.P497H NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 497 0 TCCAAAGCCCCTAGCCTGCTG 0.517 15 25 --- --- --- --- PASS UNC5B 219699 broad.mit.edu 37 10 73047494 73047494 + Silent SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:73047494G>A uc001jro.2 + 6 1318 c.873G>A c.(871-873)CAG>CAA p.Q291Q UNC5B_uc001jrp.2_Silent_p.Q291Q NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 291 TSP type-1 1.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 AGGCATTCCAGAAGACCGCCT 0.657 14 28 --- --- --- --- PASS TDRD1 56165 broad.mit.edu 37 10 115973781 115973781 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:115973781G>T uc001lbg.1 + 16 2273 c.2120G>T c.(2119-2121)TGG>TTG p.W707L TDRD1_uc001lbf.2_Missense_Mutation_p.W641L|TDRD1_uc001lbh.1_Missense_Mutation_p.W698L|TDRD1_uc001lbi.1_Missense_Mutation_p.W698L|TDRD1_uc010qsc.1_Missense_Mutation_p.W311L|TDRD1_uc001lbj.2_Missense_Mutation_p.W416L NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 707 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GAGTGGACATGGGTTGAACTT 0.408 23 37 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135095751 135095751 + Silent SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:135095751C>A uc001lmg.1 - 16 2742 c.2385G>T c.(2383-2385)CGG>CGT p.R795R TUBGCP2_uc001lmf.1_Silent_p.R388R|TUBGCP2_uc010qvc.1_Silent_p.R823R|TUBGCP2_uc009ybk.1_Silent_p.R818R|TUBGCP2_uc010qvd.1_Silent_p.R665R|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 795 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CCTTCCGGGCCCGCTCCTCGG 0.667 9 9 --- --- --- --- PASS OR51S1 119692 broad.mit.edu 37 11 4869932 4869932 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:4869932G>C uc010qyo.1 - 1 507 c.507C>G c.(505-507)TTC>TTG p.F169L NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGCCAGCAGGAATGGCAGGG 0.552 21 76 --- --- --- --- PASS CSRP3 8048 broad.mit.edu 37 11 19207795 19207795 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:19207795A>T uc001mpk.2 - 4 499 c.382T>A c.(382-384)TAT>AAT p.Y128N NM_003476 NP_003467 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 128 LIM zinc-binding 2. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding 0 TCAGCAGCATAGACTGACTTG 0.527 9 56 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46893077 46893077 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:46893077T>C uc001ndn.3 - 31 4837 c.4691A>G c.(4690-4692)CAG>CGG p.Q1564R uc001ndl.2_Intron NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1564 Extracellular (Potential).|LDL-receptor class B 19. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) AGCCAGTACCTGTGTGAGGGC 0.542 3 13 --- --- --- --- PASS MS4A3 932 broad.mit.edu 37 11 59828788 59828788 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:59828788G>A uc001nom.2 + 2 283 c.155G>A c.(154-156)GGG>GAG p.G52E MS4A3_uc001non.2_Missense_Mutation_p.G52E|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 52 Helical; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) CAAGTTCTTGGGGTAAGTCAG 0.318 17 68 --- --- --- --- PASS MS4A4A 51338 broad.mit.edu 37 11 60059779 60059779 + Silent SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:60059779A>T uc001noz.2 + 2 133 c.123A>T c.(121-123)GGA>GGT p.G41G MS4A4A_uc001npa.2_Silent_p.G22G|MS4A4A_uc001npb.2_Silent_p.G22G|MS4A4A_uc001npc.2_Silent_p.G22G NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 41 Cytoplasmic (Potential). integral to membrane receptor activity 0 CCCAGCTGGGAAACATGGCTG 0.488 10 37 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60183397 60183397 + Missense_Mutation SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:60183397A>G uc001npj.2 + 5 1521 c.956A>G c.(955-957)GAC>GGC p.D319G MS4A14_uc001npi.2_Missense_Mutation_p.D207G|MS4A14_uc001npn.2_Missense_Mutation_p.D57G|MS4A14_uc001npk.2_Missense_Mutation_p.D302G|MS4A14_uc001npl.2_Missense_Mutation_p.D57G|MS4A14_uc001npm.2_Missense_Mutation_p.D57G NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 319 integral to membrane receptor activity breast(1) 1 TCACCTGAAGACTTGCCATCC 0.453 13 64 --- --- --- --- PASS CAPN1 823 broad.mit.edu 37 11 64977857 64977857 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:64977857G>A uc009yqd.1 + 20 2104 c.1993G>A c.(1993-1995)GAG>AAG p.E665K CAPN1_uc001odf.1_Missense_Mutation_p.E665K|CAPN1_uc001odg.1_Missense_Mutation_p.E665K|CAPN1_uc010roa.1_Missense_Mutation_p.E406K NM_005186 NP_005177 P07384 CAN1_HUMAN calpain 1, large subunit 665 Domain IV. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding ovary(1) 1 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CCGCTACTCGGAGCCCGACCT 0.592 3 15 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78380075 78380075 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:78380075G>T uc001ozl.3 - 32 7778 c.7315C>A c.(7315-7317)CTT>ATT p.L2439I ODZ4_uc001ozk.3_Missense_Mutation_p.L664I|ODZ4_uc009yvb.1_Missense_Mutation_p.L1023I NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2439 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CTGCTACTAAGGTGCTTCCAC 0.507 10 40 --- --- --- --- PASS CASP1 834 broad.mit.edu 37 11 104899950 104899950 + Nonsense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr11:104899950C>A uc010rve.1 - 7 924 c.907G>T c.(907-909)GGA>TGA p.G303* CASP1_uc001pig.2_Nonsense_Mutation_p.G210*|CASP1_uc001pik.2_Nonsense_Mutation_p.G266*|CASP1_uc010rvf.1_Nonsense_Mutation_p.G210*|CASP1_uc010rvg.1_Nonsense_Mutation_p.G282*|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Nonsense_Mutation_p.G303*|CASP1_uc009yxi.2_Nonsense_Mutation_p.G282*|CASP1_uc010rvj.1_Nonsense_Mutation_p.G303*|CASP1_uc009yxj.2_Nonsense_Mutation_p.G148*|CASP1_uc010rvk.1_Nonsense_Mutation_p.G264* NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 303 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) GATAGGTTTCCAGAAACTCCT 0.418 7 23 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7527242 7527242 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:7527242C>T uc001qsy.2 - 13 3231 c.3205G>A c.(3205-3207)GAT>AAT p.D1069N CD163L1_uc010sge.1_Missense_Mutation_p.D1079N NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1069 SRCR 10.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.D1069fs*27(1) ovary(8)|skin(2)|central_nervous_system(1) 11 ACGTGGGCATCGCTCAGGTCC 0.617 OREG0021653 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 47 --- --- --- --- PASS KLRG1 10219 broad.mit.edu 37 12 9147764 9147764 + Nonsense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:9147764G>A uc001qvh.2 + 3 248 c.237G>A c.(235-237)TGG>TGA p.W79* KLRG1_uc001qvg.2_Nonsense_Mutation_p.W79* NM_005810 NP_005801 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, 79 Extracellular (Potential). cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding central_nervous_system(1) 1 CAGACCGCTGGATGAAATATG 0.483 5 39 --- --- --- --- PASS PRB2 653247 broad.mit.edu 37 12 11546519 11546519 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:11546519G>C uc010shk.1 - 3 528 c.493C>G c.(493-495)CAA>GAA p.Q165E NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTCTCCTTGTGGGGGTGGT 0.607 27 261 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15654796 15654796 + Missense_Mutation SNP A C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:15654796A>C uc001rcv.1 + 5 1078 c.904A>C c.(904-906)AGT>CGT p.S302R PTPRO_uc001rcw.1_Missense_Mutation_p.S302R|PTPRO_uc001rcu.1_Missense_Mutation_p.S302R NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 302 Fibronectin type-III 3.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) TTGGTGGGACAGTGCATCTGC 0.443 7 25 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21242966 21242966 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:21242966C>A uc010sil.1 + 16 2238 c.2173C>A c.(2173-2175)CAA>AAA p.Q725K LST-3TM12_uc010sim.1_Missense_Mutation_p.Q664K|LST-3TM12_uc010sin.1_Missense_Mutation_p.Q617K Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AAATGAAAGACAAGTAATGGA 0.313 8 28 --- --- --- --- PASS PFKM 5213 broad.mit.edu 37 12 48535133 48535133 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:48535133G>C uc001rrc.2 + 15 1551 c.1381G>C c.(1381-1383)GGC>CGC p.G461R PFKM_uc001rra.1_Missense_Mutation_p.G146R|PFKM_uc001rrb.1_Missense_Mutation_p.G532R|PFKM_uc001rrd.2_Missense_Mutation_p.G146R|PFKM_uc001rre.1_Missense_Mutation_p.G461R|PFKM_uc001rrg.1_Missense_Mutation_p.G430R NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle 461 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 GGGCTGGACTGGCCAAGGTGG 0.537 20 60 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50186238 50186238 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:50186238C>G uc009zlk.2 - 12 3985 c.3783G>C c.(3781-3783)AGG>AGC p.R1261S NCKAP5L_uc001rvc.3_Missense_Mutation_p.R465S|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R854S NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1257 Pro-rich. central_nervous_system(1) 1 CCATGGGGGTCCTGGGCAGCC 0.612 4 15 --- --- --- --- PASS SUOX 6821 broad.mit.edu 37 12 56397818 56397818 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:56397818C>T uc001six.2 + 6 971 c.645C>T c.(643-645)TTC>TTT p.F215F SUOX_uc001siy.2_Silent_p.F215F|SUOX_uc001siz.2_Silent_p.F215F|SUOX_uc001sja.2_Silent_p.F215F NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 215 Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CTATCTTCTTCACCCGGAACC 0.552 17 69 --- --- --- --- PASS PAN2 9924 broad.mit.edu 37 12 56722284 56722284 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:56722284G>A uc001skx.2 - 3 797 c.424C>T c.(424-426)CGT>TGT p.R142C PAN2_uc001skz.2_Missense_Mutation_p.R142C|PAN2_uc001sky.2_Missense_Mutation_p.R142C NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 142 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 AGGCCCCCACGGGCCATATAC 0.488 26 83 --- --- --- --- PASS CRADD 8738 broad.mit.edu 37 12 94072576 94072576 + Missense_Mutation SNP T A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:94072576T>A uc001tda.2 + 2 130 c.26T>A c.(25-27)CTC>CAC p.L9H CRADD_uc010sur.1_Missense_Mutation_p.L9H|CRADD_uc010sus.1_RNA NM_003805 NP_003796 P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with 9 CARD. apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging ovary(1) 1 AAACAAGTACTCCGCTCACTT 0.488 17 34 --- --- --- --- PASS APAF1 317 broad.mit.edu 37 12 99061383 99061383 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:99061383C>G uc001tfz.2 + 10 2032 c.1455C>G c.(1453-1455)AAC>AAG p.N485K APAF1_uc001tfy.2_Missense_Mutation_p.N474K|APAF1_uc001tga.2_Missense_Mutation_p.N474K|APAF1_uc001tgb.2_Missense_Mutation_p.N485K|APAF1_uc001tgc.2_Intron NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 485 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) ATTGGTACAACTTTCTGGCCT 0.393 16 49 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101555843 101555843 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:101555843C>G uc001thz.3 - 13 1929 c.1539G>C c.(1537-1539)ATG>ATC p.M513I NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 513 Extracellular (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 ACCAGTTATCCATCAGTGGAG 0.388 27 67 --- --- --- --- PASS C12orf43 64897 broad.mit.edu 37 12 121442168 121442168 + Missense_Mutation SNP A C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr12:121442168A>C uc001tzh.1 - 6 600 c.577T>G c.(577-579)TTG>GTG p.L193V C12orf43_uc009zxa.1_Missense_Mutation_p.L224V|C12orf43_uc010szo.1_Missense_Mutation_p.L152V|C12orf43_uc010szp.1_Missense_Mutation_p.L183V|C12orf43_uc001tzi.1_Missense_Mutation_p.L194V NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 193 Lys-rich. 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTCTTTTTCAACTTCCTTTTC 0.587 19 50 --- --- --- --- PASS MPHOSPH8 54737 broad.mit.edu 37 13 20224398 20224398 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr13:20224398C>T uc001umh.2 + 5 1583 c.1574C>T c.(1573-1575)TCA>TTA p.S525L MPHOSPH8_uc001umg.2_Missense_Mutation_p.S525L|MPHOSPH8_uc001umi.2_Missense_Mutation_p.S222L NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 525 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GATGAGAATTCAGGTGAGTTT 0.398 42 56 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58299048 58299048 + Missense_Mutation SNP T A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr13:58299048T>A uc001vhq.1 + 4 3992 c.3100T>A c.(3100-3102)TCA>ACA p.S1034T PCDH17_uc010aec.1_Missense_Mutation_p.S1033T|PCDH17_uc001vhr.1_Missense_Mutation_p.S123T NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1034 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGAGGTCCCCTCAGCATCAAG 0.522 28 49 --- --- --- --- PASS RNF219 79596 broad.mit.edu 37 13 79219120 79219120 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr13:79219120C>A uc001vkw.1 - 2 144 c.85G>T c.(85-87)GTC>TTC p.V29F RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Missense_Mutation_p.V29F NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 29 RING-type; degenerate. zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) ATGCATATGACAGGCTGACGT 0.383 25 34 --- --- --- --- PASS IPO5 3843 broad.mit.edu 37 13 98673325 98673325 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr13:98673325G>C uc001vne.2 + 28 3379 c.3199G>C c.(3199-3201)GAG>CAG p.E1067Q NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 1049 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 AGAAATGCACGAGGCAATTAA 0.418 44 124 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111099172 111099172 + Nonsense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr13:111099172G>T uc001vqx.2 + 18 1328 c.1039G>T c.(1039-1041)GGA>TGA p.G347* NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 347 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGGGCCCCCTGGACTACCTGC 0.473 22 41 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111099173 111099173 + Missense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr13:111099173G>C uc001vqx.2 + 18 1329 c.1040G>C c.(1039-1041)GGA>GCA p.G347A NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 347 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGCCCCCTGGACTACCTGCC 0.478 22 41 --- --- --- --- PASS TSSK4 283629 broad.mit.edu 37 14 24676618 24676618 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:24676618A>T uc001wng.2 + 3 875 c.707A>T c.(706-708)CAT>CTT p.H236L TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Missense_Mutation_p.H160L|TSSK4_uc001wnf.2_Missense_Mutation_p.H166L|TSSK4_uc001wnh.2_Missense_Mutation_p.H246L NM_174944 NP_777604 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 236 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity 0 GBM - Glioblastoma multiforme(265;0.018) GTGGTCGCCCATCTGCCCTTT 0.517 34 65 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47504430 47504430 + Nonsense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:47504430G>A uc001wwj.3 - 8 1592 c.1396C>T c.(1396-1398)CAA>TAA p.Q466* MDGA2_uc001wwi.3_Nonsense_Mutation_p.Q237*|MDGA2_uc010ani.2_Nonsense_Mutation_p.Q26* NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 466 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CCAGTTACTTGACATTGCAGT 0.408 16 67 --- --- --- --- PASS KTN1 3895 broad.mit.edu 37 14 56083372 56083372 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:56083372G>T uc001xcb.2 + 4 963 c.661G>T c.(661-663)GTC>TTC p.V221F KTN1_uc001xce.2_Missense_Mutation_p.V221F|KTN1_uc001xcc.2_Missense_Mutation_p.V221F|KTN1_uc001xcd.2_Missense_Mutation_p.V221F|KTN1_uc010trb.1_Missense_Mutation_p.V221F|KTN1_uc001xcf.1_Missense_Mutation_p.V221F NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 221 Lumenal (Potential). microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 GACAGAAAATGGTGAGATGTT 0.388 T RET papillary thryoid 6 66 --- --- --- --- PASS C14orf37 145407 broad.mit.edu 37 14 58563647 58563647 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:58563647C>G uc001xdc.2 - 5 1995 c.1884G>C c.(1882-1884)GAG>GAC p.E628D C14orf37_uc010tro.1_Missense_Mutation_p.E666D|C14orf37_uc001xdd.2_Missense_Mutation_p.E628D NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 628 Extracellular (Potential).|Glu-rich. integral to membrane binding 0 cctcatcttcctcttcttcat 0.279 13 29 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64443309 64443309 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:64443309A>T uc001xgm.2 + 12 1387 c.1157A>T c.(1156-1158)TAT>TTT p.Y386F SYNE2_uc001xgl.2_Missense_Mutation_p.Y386F NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 386 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAGCTAAATTATGCCTTGCCC 0.378 78 144 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72138134 72138134 + Nonsense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:72138134G>T uc001xms.2 + 8 2902 c.2554G>T c.(2554-2556)GAG>TAG p.E852* SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.E852*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.E852*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.E852*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.E327* NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 852 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCCAGGAGCCGAGCTCAGCAG 0.502 18 41 --- --- --- --- PASS RGS6 9628 broad.mit.edu 37 14 72976929 72976929 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:72976929G>A uc001xna.3 + 14 1556 c.1033G>A c.(1033-1035)GTG>ATG p.V345M RGS6_uc010ttn.1_Missense_Mutation_p.V345M|RGS6_uc001xmx.3_Missense_Mutation_p.V345M|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.V345M|RGS6_uc010ttp.1_Missense_Mutation_p.V276M|RGS6_uc001xmz.1_Missense_Mutation_p.V206M NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 345 RGS. 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) GAAGGACCAGGTGGGGCGGGA 0.468 64 114 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88652109 88652109 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:88652109T>C uc001xwo.2 - 7 1844 c.1387A>G c.(1387-1389)AAG>GAG p.K463E KCNK10_uc001xwm.2_Missense_Mutation_p.K468E|KCNK10_uc001xwn.2_Missense_Mutation_p.K468E NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 463 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 GGCAAGGTCTTTTTGAGGTCC 0.507 17 94 --- --- --- --- PASS BTBD7 55727 broad.mit.edu 37 14 93727992 93727992 + Missense_Mutation SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:93727992A>G uc001ybo.2 - 5 1729 c.1403T>C c.(1402-1404)ATT>ACT p.I468T BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Intron|BTBD7_uc001ybp.2_Missense_Mutation_p.I117T|BTBD7_uc001ybq.3_Missense_Mutation_p.I383T NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 468 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TCCCCATTTAATCAGATATTT 0.303 7 78 --- --- --- --- PASS BTBD7 55727 broad.mit.edu 37 14 93761256 93761256 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:93761256T>C uc001ybo.2 - 3 436 c.110A>G c.(109-111)TAT>TGT p.Y37C BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Missense_Mutation_p.Y37C NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 37 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TTCGCAACCATAGCCTTGCTG 0.343 23 57 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103406186 103406186 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:103406186C>G uc001ymi.1 - 33 4922 c.4690G>C c.(4690-4692)GAG>CAG p.E1564Q NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1564 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TGCAGTCTCTCTTCCTCTGGG 0.612 66 123 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811224 23811224 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:23811224A>T uc001ywh.3 + 1 771 c.295A>T c.(295-297)ATC>TTC p.I99F MKRN3_uc001ywi.2_Missense_Mutation_p.I99F|MKRN3_uc010ayi.1_Missense_Mutation_p.I99F NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 99 C3H1-type 1. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GACAAAGCAGATCATCTGCAG 0.602 9 48 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 26026288 26026288 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:26026288G>T uc010ayu.2 - 2 638 c.532C>A c.(532-534)CCT>ACT p.P178T NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 178 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) ATGTCCGCAGGGAAGATTTCG 0.527 10 55 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 26026289 26026289 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:26026289G>T uc010ayu.2 - 2 637 c.531C>A c.(529-531)TTC>TTA p.F177L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 177 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) TGTCCGCAGGGAAGATTTCGT 0.527 9 56 --- --- --- --- PASS ARHGAP11A 9824 broad.mit.edu 37 15 32928116 32928116 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:32928116G>T uc001zgy.1 + 11 2205 c.1483G>T c.(1483-1485)GGT>TGT p.G495C ARHGAP11A_uc010ubw.1_Missense_Mutation_p.G306C|ARHGAP11A_uc001zgw.2_Missense_Mutation_p.G495C|ARHGAP11A_uc001zgx.2_Missense_Mutation_p.G467C|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.G306C NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 495 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) ACCAAAGAAAGGTACATTTAC 0.294 11 23 --- --- --- --- PASS RAD51 5888 broad.mit.edu 37 15 40993374 40993374 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:40993374G>T uc001zmi.3 + 3 499 c.200G>T c.(199-201)AGT>ATT p.S67I RAD51_uc010bbw.2_Missense_Mutation_p.S67I|RAD51_uc010bbx.2_Missense_Mutation_p.S67I|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.S67I|RAD51_uc001zmm.1_RNA|RAD51_uc001zmn.1_5'UTR NM_002875 NP_002866 Q06609 RAD51_HUMAN RAD51 homolog protein isoform 1 67 HhH. DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity 0 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) AAGGGAATTAGTGAAGCCAAA 0.403 Homologous_recombination 17 81 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42693865 42693865 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:42693865C>T uc001zpn.1 + 11 1687 c.1381C>T c.(1381-1383)CGT>TGT p.R461C CAPN3_uc001zpk.1_Missense_Mutation_p.R234C|CAPN3_uc001zpl.1_Missense_Mutation_p.R374C|CAPN3_uc010udf.1_Missense_Mutation_p.R374C|CAPN3_uc010udg.1_Missense_Mutation_p.R326C|CAPN3_uc001zpo.1_Missense_Mutation_p.R461C|CAPN3_uc001zpp.1_Missense_Mutation_p.R413C|CAPN3_uc001zpq.1_5'Flank NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 461 Domain III. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CCCTCAGTACCGTCTGAAGCT 0.582 13 38 --- --- --- --- PASS DUOX1 53905 broad.mit.edu 37 15 45427450 45427450 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:45427450C>T uc001zus.1 + 6 802 c.456C>T c.(454-456)GAC>GAT p.D152D DUOX1_uc001zut.1_Silent_p.D152D|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 152 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GCCGCTGGGACCCCGAGACCG 0.716 5 16 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49031141 49031141 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:49031141C>T uc001zwy.2 - 26 4304 c.4270G>A c.(4270-4272)GAC>AAC p.D1424N CEP152_uc001zwz.2_Missense_Mutation_p.D1480N NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1424 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CTGAGTAGGTCTTTCTTCTTG 0.453 9 73 --- --- --- --- PASS TEX9 374618 broad.mit.edu 37 15 56680704 56680704 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:56680704C>A uc002adp.2 + 5 303 c.298C>A c.(298-300)CAT>AAT p.H100N TEX9_uc002ado.1_Missense_Mutation_p.H100N|TEX9_uc010ugl.1_Missense_Mutation_p.H25N|TEX9_uc002adq.1_Missense_Mutation_p.H25N NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN testis expressed 9 100 0 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) AGTTCATCTTCATTCAGAAAC 0.328 5 41 --- --- --- --- PASS HMG20A 10363 broad.mit.edu 37 15 77769937 77769937 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr15:77769937C>T uc002bcr.2 + 8 857 c.656C>T c.(655-657)CCT>CTT p.P219L HMG20A_uc002bcs.2_Missense_Mutation_p.P219L NM_018200 NP_060670 Q9NP66 HM20A_HUMAN high-mobility group 20A 219 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TTTGACATCCCTATATTTACA 0.328 5 26 --- --- --- --- PASS NARFL 64428 broad.mit.edu 37 16 780560 780560 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:780560C>T uc002cjr.2 - 11 1300 c.1288G>A c.(1288-1290)GAG>AAG p.E430K NARFL_uc002cjp.2_Missense_Mutation_p.E328K|NARFL_uc002cjq.2_Missense_Mutation_p.E328K|NARFL_uc002cjs.2_Missense_Mutation_p.E212K NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 430 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) TCGGGCGCCTCAGCCCGGACC 0.667 6 46 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9857679 9857679 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:9857679C>T uc002czo.3 - 13 4270 c.3722G>A c.(3721-3723)CGG>CAG p.R1241Q GRIN2A_uc010uym.1_Missense_Mutation_p.R1241Q|GRIN2A_uc010uyn.1_Missense_Mutation_p.R1084Q|GRIN2A_uc002czr.3_Missense_Mutation_p.R1241Q NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1241 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTTCCCCATCCGCAGGCAGGC 0.582 10 91 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24920378 24920378 + Silent SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:24920378C>A uc002dmu.2 + 14 1843 c.1611C>A c.(1609-1611)TCC>TCA p.S537S SLC5A11_uc002dms.2_Silent_p.S473S|SLC5A11_uc010vcd.1_Silent_p.S502S|SLC5A11_uc002dmt.2_Silent_p.S381S|SLC5A11_uc010vce.1_Silent_p.S467S|SLC5A11_uc010bxt.2_Silent_p.S473S|SLC5A11_uc002dmv.2_Silent_p.S160S NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 537 Helical; (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) TCACTGTCTCCACCGTGAGCT 0.468 12 39 --- --- --- --- PASS NFATC2IP 84901 broad.mit.edu 37 16 28967563 28967563 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:28967563G>T uc002dru.2 + 5 766 c.751G>T c.(751-753)GTC>TTC p.V251F uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron|NFATC2IP_uc002drv.2_5'UTR|NFATC2IP_uc010vdh.1_5'Flank NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 251 cytoplasm|nucleus ovary(1) 1 GGATGAAGTGGTCTTGGTGGA 0.607 14 31 --- --- --- --- PASS C16orf57 79650 broad.mit.edu 37 16 58043878 58043878 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:58043878C>T uc002emz.2 + 3 394 c.311C>T c.(310-312)CCC>CTC p.P104L C16orf57_uc010via.1_Missense_Mutation_p.P104L|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.P104L|C16orf57_uc010vic.1_Missense_Mutation_p.P53L NM_024598 NP_078874 Q9BQ65 CP057_HUMAN hypothetical protein LOC79650 104 0 GTGTTGCTGCCCCATGCCCAG 0.592 34 77 --- --- --- --- PASS PDP2 57546 broad.mit.edu 37 16 66918398 66918398 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:66918398G>T uc002eqk.1 + 2 373 c.211G>T c.(211-213)GAT>TAT p.D71Y NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 71 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AACAGAGGAAGATGATTTTCA 0.488 5 73 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72992122 72992122 + Silent SNP C T T rs150601682 by1000genomes TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:72992122C>T uc002fck.2 - 2 2596 c.1923G>A c.(1921-1923)GAG>GAA p.E641E ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 641 C2H2-type 2. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) ATTTGGGGCACTCCACGCCAC 0.642 7 16 --- --- --- --- PASS TUBB3 10381 broad.mit.edu 37 16 90001435 90001435 + Silent SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:90001435G>T uc002fph.1 + 4 641 c.576G>T c.(574-576)CTG>CTT p.L192L TUBB3_uc002fpf.2_Silent_p.L539L|TUBB3_uc010ciz.1_Silent_p.L120L|TUBB3_uc002fpg.1_Silent_p.L46L|TUBB3_uc002fpi.1_Silent_p.L120L|TUBB3_uc002fpj.1_Silent_p.L120L|TUBB3_uc010cjb.1_Silent_p.L46L|TUBB3_uc002fpk.1_Silent_p.L46L NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 192 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) TCCACCAGCTGGTGGAGAACA 0.612 52 105 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr17:7579311C>A uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice 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.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGGCAACTGACCGTGCAAGTC 0.532 111 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) 11 45 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29663350 29663350 + Splice_Site SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr17:29663350G>T uc002hgg.2 + 41 6340 c.6007_splice c.e41-1 p.I2003_splice NF1_uc002hgh.2_Splice_Site_p.I1982_splice|NF1_uc010cso.2_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTTCAACTAGATTACAGATC 0.328 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 9 26 --- --- --- --- PASS HSF5 124535 broad.mit.edu 37 17 56540167 56540167 + Missense_Mutation SNP T G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr17:56540167T>G uc002iwi.1 - 4 1642 c.1518A>C c.(1516-1518)GAA>GAC p.E506D NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 506 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATGGTGGCCCTTCCTGCACAA 0.433 15 113 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28934971 28934971 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr18:28934971A>T uc002kwp.2 + 15 3024 c.2812A>T c.(2812-2814)AGT>TGT p.S938C DSG1_uc010xbp.1_Missense_Mutation_p.S297C NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 938 Desmoglein repeat 5.|Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGGTAGTCTGAGTATGCACCC 0.483 107 175 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50976931 50976931 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr18:50976931C>A uc002lfe.1 + 23 3878 c.3291C>A c.(3289-3291)AAC>AAA p.N1097K DCC_uc010dpf.1_Missense_Mutation_p.N732K NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1097 Extracellular (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) AGAACAGCAACCTGCTTGTGA 0.527 14 29 --- --- --- --- PASS TRIP10 9322 broad.mit.edu 37 19 6751103 6751103 + Missense_Mutation SNP G C C rs139253875 byFrequency TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:6751103G>C uc002mfs.2 + 15 1753 c.1687G>C c.(1687-1689)GAG>CAG p.E563Q TRIP10_uc010dux.1_Silent_p.P516P|TRIP10_uc002mfr.2_Missense_Mutation_p.E507Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.E326Q NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 563 Interaction with PDE6G (By similarity).|SH3.|Required for podosome formation.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Required for interaction with FASLG and localization to lysosomes.|Interaction with WAS. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 CTCTATGGCCGAGGGTGAAGA 0.527 13 29 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8971706 8971706 + Missense_Mutation SNP T A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:8971706T>A uc002mkp.2 - 78 43090 c.42886A>T c.(42886-42888)ACC>TCC p.T14296S MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T1096S|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 14379 Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 AACTGGTAGGTGGAGCCCAGC 0.527 13 15 --- --- --- --- PASS EMR3 84658 broad.mit.edu 37 19 14736383 14736383 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:14736383C>G uc002mzi.3 - 15 1989 c.1841G>C c.(1840-1842)AGA>ACA p.R614T EMR3_uc010dzp.2_Missense_Mutation_p.R562T|EMR3_uc010xnv.1_Missense_Mutation_p.R488T NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 614 Cytoplasmic (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 TACGATCTCTCTAAACCACTT 0.418 11 65 --- --- --- --- PASS CEACAM5 1048 broad.mit.edu 37 19 42213940 42213940 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:42213940G>A uc002ork.2 + 2 527 c.406G>A c.(406-408)GGC>AGC p.G136S CEACAM5_uc010ehz.1_Missense_Mutation_p.G136S|CEACAM5_uc002orj.1_Missense_Mutation_p.G136S|CEACAM5_uc002orl.2_Missense_Mutation_p.G136S NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 136 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) AGAAGCAACTGGCCAGTTCCG 0.517 36 170 --- --- --- --- PASS CD37 951 broad.mit.edu 37 19 49838976 49838976 + Silent SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:49838976C>A uc002pnd.2 + 2 196 c.75C>A c.(73-75)CTC>CTA p.L25L uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.L25L|CD37_uc010yan.1_5'UTR|CD37_uc002pnf.3_5'UTR|CD37_uc002pne.2_5'UTR NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 25 Helical; (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) CCCAGGTCCTCGGCAGCCTGA 0.657 67 236 --- --- --- --- PASS TSKS 60385 broad.mit.edu 37 19 50247496 50247496 + Silent SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:50247496G>C uc002ppm.2 - 8 1364 c.1353C>G c.(1351-1353)CGC>CGG p.R451R NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 451 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) ACCTGGCACAGCGGGCACAGT 0.582 10 41 --- --- --- --- PASS PTOV1 53635 broad.mit.edu 37 19 50357725 50357725 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:50357725C>T uc002pqf.1 + 2 404 c.234C>T c.(232-234)CTC>CTT p.L78L uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Silent_p.L46L|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.L46L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) GGCTCACCCTCGGGGGTCTGG 0.667 8 80 --- --- --- --- PASS ZNF415 55786 broad.mit.edu 37 19 53612438 53612438 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:53612438A>T uc002qax.2 - 7 1353 c.1004T>A c.(1003-1005)CTT>CAT p.L335H ZNF415_uc002qat.2_Missense_Mutation_p.L299H|ZNF415_uc002qaw.2_Missense_Mutation_p.L287H|ZNF415_uc010yds.1_Missense_Mutation_p.L287H|ZNF415_uc010ydt.1_Missense_Mutation_p.L287H|ZNF415_uc002qau.2_Missense_Mutation_p.L274H|ZNF415_uc002qav.2_Missense_Mutation_p.L299H|ZNF415_uc002qba.2_Missense_Mutation_p.L57H|ZNF415_uc002qay.2_Missense_Mutation_p.L274H|ZNF415_uc002qaz.2_Missense_Mutation_p.L335H NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 335 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) ATGTAGTGCAAGGCATGAGTT 0.413 7 54 --- --- --- --- PASS EPS8L1 54869 broad.mit.edu 37 19 55597214 55597214 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:55597214G>A uc002qis.3 + 15 1495 c.1391G>A c.(1390-1392)CGA>CAA p.R464Q EPS8L1_uc010ess.1_Missense_Mutation_p.R478Q|EPS8L1_uc010yfr.1_Missense_Mutation_p.R400Q|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.R337Q|EPS8L1_uc002qiv.2_Missense_Mutation_p.R142Q|EPS8L1_uc002qiw.2_Missense_Mutation_p.R243Q NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 464 cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CTCAGTCACCGAGACTTGGAG 0.577 15 73 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56953294 56953294 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:56953294G>A uc002qnd.2 - 5 1232 c.1070C>T c.(1069-1071)CCG>CTG p.P357L ZNF667_uc010etl.2_Missense_Mutation_p.P139L|ZNF667_uc002qne.2_Missense_Mutation_p.P357L|ZNF667_uc010etm.2_Missense_Mutation_p.P300L NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) ACATTTGTACGGTTTCTCTGA 0.353 11 55 --- --- --- --- PASS AURKC 6795 broad.mit.edu 37 19 57746259 57746259 + Missense_Mutation SNP A G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr19:57746259A>G uc002qoe.2 + 6 781 c.592A>G c.(592-594)ACA>GCA p.T198A AURKC_uc002qoc.2_Missense_Mutation_p.T179A|AURKC_uc002qod.2_Missense_Mutation_p.T164A|AURKC_uc010etv.2_Missense_Mutation_p.T195A NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 198 Protein kinase. T->A: Impairs kinase activity. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TAGGAGGAAGACAATGTGTGG 0.483 6 46 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961247 1961247 + Missense_Mutation SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:1961247G>A uc010gaj.2 - 3 729 c.487C>T c.(487-489)CTC>TTC p.L163F uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.L163F|PDYN_uc010zpt.1_Missense_Mutation_p.L8F NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 163 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 TCCTCAGCGAGATAGAGTGTG 0.602 23 75 --- --- --- --- PASS TMC2 117532 broad.mit.edu 37 20 2575614 2575614 + Splice_Site SNP G A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:2575614G>A uc002wgf.1 + 9 1091 c.1076_splice c.e9+1 p.S359_splice TMC2_uc002wgg.1_Splice_Site_p.S343_splice|TMC2_uc010zpw.1_Splice_Site_p.S191_splice|TMC2_uc010zpx.1_Splice_Site_p.S190_splice NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 integral to membrane ovary(3) 3 TCATTCGATCGTAAGTATGAC 0.557 12 54 --- --- --- --- PASS C20orf79 140856 broad.mit.edu 37 20 18794684 18794684 + Silent SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:18794684C>A uc002wrk.2 + 1 315 c.225C>A c.(223-225)ACC>ACA p.T75T uc002wrj.1_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN hypothetical protein LOC140856 75 SCP2. sterol binding skin(3) 3 TGGACATCACCAAAAATGGGA 0.493 19 65 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20486081 20486081 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:20486081C>A uc002wrz.2 - 34 5169 c.5026G>T c.(5026-5028)GAC>TAC p.D1676Y RALGAPA2_uc010gcx.2_Missense_Mutation_p.D1380Y|RALGAPA2_uc010zsg.1_Missense_Mutation_p.D1124Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.D448Y NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1676 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GCAACAAAGTCTTCATATGCT 0.403 5 10 --- --- --- --- PASS PLK1S1 55857 broad.mit.edu 37 20 21143751 21143751 + Missense_Mutation SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:21143751A>T uc002wsb.2 + 6 1436 c.1303A>T c.(1303-1305)AGC>TGC p.S435C PLK1S1_uc010zsh.1_Missense_Mutation_p.S332C|PLK1S1_uc010zsi.1_Missense_Mutation_p.S302C|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 isoform 1 435 spindle organization centrosome protein kinase binding 0 GCAAACCCTAAGCTCTCCTGA 0.373 35 139 --- --- --- --- PASS C20orf185 359710 broad.mit.edu 37 20 31659950 31659950 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:31659950C>A uc002wym.1 + 13 1301 c.1301C>A c.(1300-1302)GCA>GAA p.A434E NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 434 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 GTGGTCGGGGCAGTGTATGCA 0.522 9 38 --- --- --- --- PASS PCK1 5105 broad.mit.edu 37 20 56139260 56139260 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:56139260T>C uc002xyn.3 + 7 1160 c.997T>C c.(997-999)TTC>CTC p.F333L PCK1_uc010zzm.1_Missense_Mutation_p.F16L NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 333 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) AAATGGCTTTTTCGGTGTCGC 0.478 5 31 --- --- --- --- PASS MIR646 693231 broad.mit.edu 37 20 58883553 58883553 + RNA SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:58883553G>T hsa-mir-646|MI0003661 + c.22G>T uc002ybl.2_Intron|uc010gjw.1_Intron 0 tgccagtggagtcagcacacc 0.000 8 26 --- --- --- --- PASS YTHDF1 54915 broad.mit.edu 37 20 61834312 61834312 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr20:61834312C>A uc002yeh.2 - 4 1274 c.980G>T c.(979-981)CGC>CTC p.R327L YTHDF1_uc011aaq.1_Missense_Mutation_p.R277L NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 327 Gln/Pro-rich. ovary(2) 2 GGCAACCCAGCGGGTCTGGGG 0.657 10 14 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32513671 32513671 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr21:32513671C>T uc002yow.1 - 22 4099 c.3627G>A c.(3625-3627)GCG>GCA p.A1209A TIAM1_uc011adk.1_Silent_p.A1209A|TIAM1_uc011adl.1_Silent_p.A1149A NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1209 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CCTCGCTCTCCGCATCGGTCA 0.597 7 63 --- --- --- --- PASS CRYAA 1409 broad.mit.edu 37 21 44589369 44589369 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr21:44589369C>T uc002zdd.1 + 1 229 c.160C>T c.(160-162)CGC>TGC p.R54C NM_000394 NP_000385 P02489 CRYAA_HUMAN crystallin, alpha A 54 anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception cytoplasm|nucleus structural constituent of eye lens|unfolded protein binding breast(1)|central_nervous_system(1) 2 GTCCCTCTTCCGCACCGTGCT 0.637 32 41 --- --- --- --- PASS PPIL2 23759 broad.mit.edu 37 22 22039088 22039088 + Silent SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr22:22039088A>T uc010gtj.1 + 10 716 c.600A>T c.(598-600)ACA>ACT p.T200T PPIL2_uc002zvh.3_Silent_p.T200T|PPIL2_uc002zvi.3_Silent_p.T200T|PPIL2_uc002zvg.3_Silent_p.T200T|PPIL2_uc011aij.1_Silent_p.T179T|PPIL2_uc002zvk.3_5'Flank NM_148175 NP_680480 Q13356 PPIL2_HUMAN peptidylprolyl isomerase-like 2 isoform a 200 Potential. blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity ovary(2) 2 Colorectal(54;0.105) TGAAAAATACAAATGCCGAGA 0.542 9 51 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26422777 26422777 + Silent SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr22:26422777C>T uc003abz.1 + 43 7087 c.6837C>T c.(6835-6837)CCC>CCT p.P2279P MYO18B_uc003aca.1_Silent_p.P2160P|MYO18B_uc010guy.1_Silent_p.P2161P|MYO18B_uc010guz.1_Silent_p.P2159P|MYO18B_uc011aka.1_Silent_p.P1433P|MYO18B_uc011akb.1_Silent_p.P1792P|MYO18B_uc010gva.1_Silent_p.P262P|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2279 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCACTCTCCCCATTTACCAGA 0.642 6 11 --- --- --- --- PASS SFI1 9814 broad.mit.edu 37 22 31924738 31924738 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr22:31924738C>G uc003ale.2 + 3 548 c.155C>G c.(154-156)TCT>TGT p.S52C SFI1_uc003ald.1_Missense_Mutation_p.S52C|SFI1_uc003alf.2_Missense_Mutation_p.S52C|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Missense_Mutation_p.S52C|SFI1_uc003alh.2_Intron NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 52 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 AACAAGAAGTCTTCTGCATCC 0.443 14 77 --- --- --- --- PASS ST13 6767 broad.mit.edu 37 22 41223120 41223120 + Missense_Mutation SNP C G G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr22:41223120C>G uc003aze.2 - 11 1104 c.961G>C c.(961-963)GAG>CAG p.E321Q ST13_uc011aow.1_Missense_Mutation_p.E311Q NM_003932 NP_003923 P50502 F10A1_HUMAN heat shock 70kD protein binding protein 321 STI1. protein binding, bridging 0 GCAAGAACCTCTGGATCACTA 0.453 7 62 --- --- --- --- PASS XRCC6 2547 broad.mit.edu 37 22 42042926 42042926 + Missense_Mutation SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr22:42042926T>C uc003bao.1 + 7 870 c.800T>C c.(799-801)ATA>ACA p.I267T XRCC6_uc003bap.1_Missense_Mutation_p.I226T|XRCC6_uc011apc.1_Missense_Mutation_p.I217T|XRCC6_uc003baq.1_Missense_Mutation_p.I267T|XRCC6_uc003bar.1_Missense_Mutation_p.I267T|XRCC6_uc003bas.1_Missense_Mutation_p.I217T NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 267 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 AACAAAGATATAGTGATCTCT 0.398 Direct_reversal_of_damage|NHEJ 31 149 --- --- --- --- PASS PIM3 415116 broad.mit.edu 37 22 50356677 50356677 + Missense_Mutation SNP G T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr22:50356677G>T uc003bjb.2 + 6 1336 c.883G>T c.(883-885)GGG>TGG p.G295W PIM3_uc011arj.1_Missense_Mutation_p.G58W NM_001001852 NP_001001852 Q86V86 PIM3_HUMAN serine/threonine protein kinase pim-3 295 cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) CTGGATGCTGGGGGCTGACGG 0.687 7 13 --- --- --- --- PASS DHRSX 207063 broad.mit.edu 37 X 2161142 2161142 + Silent SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:2161142C>A uc004cqf.3 - 6 775 c.726G>T c.(724-726)GTG>GTT p.V242V NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 242 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCGTGTTGACCACCCCGGGGT 0.622 11 36 --- --- --- --- PASS EGFL6 25975 broad.mit.edu 37 X 13645160 13645160 + Nonsense_Mutation SNP T A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:13645160T>A uc004cvi.2 + 11 1556 c.1316T>A c.(1315-1317)TTG>TAG p.L439* EGFL6_uc004cvj.2_Nonsense_Mutation_p.L440* NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 439 MAM. cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 GTTCCGGCCTTGGCAGGTCAC 0.433 31 24 --- --- --- --- PASS FUNDC1 139341 broad.mit.edu 37 X 44383470 44383470 + Missense_Mutation SNP C T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:44383470C>T uc004dgc.2 - 5 585 c.442G>A c.(442-444)GGC>AGC p.G148S NM_173794 NP_776155 Q8IVP5 FUND1_HUMAN FUN14 domain containing 1 148 0 AGCAAAAAGCCTCCCACAAAT 0.333 7 16 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65423336 65423336 + Silent SNP T C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:65423336T>C uc011moz.1 + 13 2277 c.2217T>C c.(2215-2217)TAT>TAC p.Y739Y HEPH_uc004dwn.2_Silent_p.Y739Y|HEPH_uc004dwo.2_Silent_p.Y469Y|HEPH_uc010nkr.2_Silent_p.Y547Y|HEPH_uc011mpa.1_Silent_p.Y739Y|HEPH_uc010nks.2_Silent_p.Y28Y NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 736 Extracellular (Potential).|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GAATCTACTATATCATGGCAG 0.527 6 12 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73045917 73045917 + RNA SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:73045917A>T uc004ebn.2 + 1 c.33878A>T XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 CATAACCATCACTAGAAATCC 0.502 28 46 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83129612 83129612 + Silent SNP A T T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:83129612A>T uc004eei.1 + 4 1917 c.1896A>T c.(1894-1896)CCA>CCT p.P632P CYLC1_uc004eeh.1_Silent_p.P631P NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 632 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 TGCCTCCTCCACCTCCAAAAC 0.393 12 6 --- --- --- --- PASS SATL1 340562 broad.mit.edu 37 X 84363064 84363064 + Nonsense_Mutation SNP G C C TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:84363064G>C uc011mqx.1 - 1 911 c.911C>G c.(910-912)TCA>TGA p.S304* SATL1_uc004een.2_Nonsense_Mutation_p.S304* NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 117 Gln-rich. N-acetyltransferase activity breast(2) 2 GTTTGTACCTGATTGCCTCAT 0.478 10 17 --- --- --- --- PASS MAGEA11 4110 broad.mit.edu 37 X 148797503 148797503 + Missense_Mutation SNP C A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:148797503C>A uc004fdq.2 + 5 459 c.357C>A c.(355-357)CAC>CAA p.H119Q HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.H90Q NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 119 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GAAGTCAGCACTGCAAGCCTG 0.587 15 36 --- --- --- --- PASS VENTXP7 391518 broad.mit.edu 37 3 21447901 21447902 + RNA INS - CC CC rs143568999 by1000genomes TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr3:21447901_21447902insCC uc003ccd.2 + 1 c.684_685insCC NR_002311 Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA. 0 CTGGCATACCACCCCCCACGCC 0.663 3 3 --- --- --- --- LOC729678 729678 broad.mit.edu 37 5 180261938 180261939 + RNA DEL CT - - rs72473031 TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr5:180261938_180261939delCT uc011dhd.1 + 3 c.2104_2105delCT LOC729678_uc010jlj.2_RNA|LOC729678_uc003mmk.3_RNA|LOC729678_uc003mml.3_RNA NR_027183 Homo sapiens cDNA FLJ37851 fis, clone BRSSN2014294. 0 caaaagcttgctctctctctct 0.079 4 2 --- --- --- --- ANXA8 653145 broad.mit.edu 37 10 47012503 47012503 + RNA DEL G - - TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:47012503delG uc001jed.3 - 4 c.1054delC P13928 ANXA8_HUMAN Homo sapiens cDNA FLJ58071 complete cds, highly similar to Annexin A8. blood coagulation calcium ion binding|calcium-dependent phospholipid binding central_nervous_system(3) 3 acacctctctgggcttagtcc 0.015 5 4 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89711960 89711960 + Frame_Shift_Del DEL T - - TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr10:89711960delT uc001kfb.2 + 7 1609 c.578delT c.(577-579)CTGfs p.L193fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 193 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.V191fs*7(1)|p.L193P(1)|p.L193del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CCAGTGGCACTGTTGTTTCAC 0.398 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 90 41 --- --- --- --- NALCN 259232 broad.mit.edu 37 13 102029111 102029111 + Frame_Shift_Del DEL A - - TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr13:102029111delA uc001vox.1 - 6 773 c.584delT c.(583-585)TTAfs p.L195fs NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Frame_Shift_Del_p.L195fs|NALCN_uc001vpa.2_Frame_Shift_Del_p.L195fs NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 195 Helical; Name=S5 of repeat I; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTGAACTCCTAAAATTCCATA 0.318 108 50 --- --- --- --- RPL13AP3 645683 broad.mit.edu 37 14 56233989 56233990 + RNA INS - A A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr14:56233989_56233990insA uc010aos.2 + 1 c.1027_1028insA NR_004844 Homo sapiens ribosomal protein L13a pseudogene, mRNA (cDNA clone IMAGE:5271409). 0 TACTTTTAAAGAAAAAAAAaac 0.203 4 2 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - TCC TCC rs141374045 by1000genomes TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chr16:2049882_2049883insTCC uc002cof.1 - 11 1682_1683 c.1667_1668insGGA c.(1666-1668)GAC>GAGGAC p.555_556insE ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 555_556 intracellular zinc ion binding lung(1)|breast(1) 2 CCGGGCCGCCGTCCTCCTCCTC 0.703 6 8 --- --- --- --- MSL3 10943 broad.mit.edu 37 X 11782023 11782026 + Frame_Shift_Del DEL CTTC - - TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 2466d424-98bb-4380-9967-36abaa0e69d7 0671bcea-de4c-4838-843a-dc5ff4a99b70 g.chrX:11782023_11782026delCTTC uc004cuw.2 + 8 979_982 c.874_877delCTTC c.(874-879)CTTCCAfs p.L292fs MSL3_uc004cuv.1_Frame_Shift_Del_p.L292fs|MSL3_uc004cux.2_Frame_Shift_Del_p.L233fs|MSL3_uc011mig.1_Frame_Shift_Del_p.L143fs|MSL3_uc011mih.1_Frame_Shift_Del_p.L280fs|MSL3_uc004cuy.2_Frame_Shift_Del_p.L126fs|MSL3_uc011mii.1_Frame_Shift_Del_p.L126fs NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 292_293 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TAAATTTTTTCTTCCAATTAAGGA 0.377 36 21 --- --- --- ---