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 DVL1 1855 broad.mit.edu 37 1 1275504 1275504 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:1275504C>G uc001aer.3 - 8 870 c.823G>C c.(823-825)GAC>CAC p.D275H DVL1_uc002quu.2_5'UTR|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_5'UTR NM_004421 NP_004412 O14640 DVL1_HUMAN dishevelled 1 275 PDZ. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ATGCCGCCGTCTCCACGGTCG 0.652 3 23 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7725174 7725174 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:7725174C>T uc001aoi.2 + 9 2774 c.2567C>T c.(2566-2568)TCG>TTG p.S856L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 856 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCGGCCGCCTCGGCCCAGGGC 0.677 7 27 --- --- --- --- PASS PADI4 23569 broad.mit.edu 37 1 17690223 17690223 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:17690223C>A uc001baj.2 + 16 1993 c.1965C>A c.(1963-1965)TCC>TCA p.S655S NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 655 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) AGCCCTTCTCCTTCAAGTGGT 0.602 4 31 --- --- --- --- PASS USP48 84196 broad.mit.edu 37 1 22033294 22033294 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:22033294C>A uc001bfb.2 - 16 2269 c.2031G>T c.(2029-2031)CAG>CAT p.Q677H USP48_uc001bfa.2_Missense_Mutation_p.Q215H|USP48_uc010odq.1_Missense_Mutation_p.Q689H|USP48_uc009vqc.2_Missense_Mutation_p.Q611H|USP48_uc001bfc.2_Missense_Mutation_p.Q677H|USP48_uc001bfd.1_5'Flank NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 677 DUSP 2. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TTGGAAAGTACTGCTGCAGTT 0.403 18 65 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35351124 35351124 + Silent SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:35351124C>G uc001byc.2 - 5 1869 c.1869G>C c.(1867-1869)CGG>CGC p.R623R NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 623 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) GCGCCAGGCTCCGCAGCTCCT 0.721 4 9 --- --- --- --- PASS ZMYM1 79830 broad.mit.edu 37 1 35579229 35579229 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:35579229G>A uc001bym.2 + 11 1946 c.1798G>A c.(1798-1800)GAA>AAA p.E600K ZMYM1_uc001byn.2_Missense_Mutation_p.E600K|ZMYM1_uc010ohu.1_Missense_Mutation_p.E581K|ZMYM1_uc001byo.2_Missense_Mutation_p.E240K|ZMYM1_uc009vut.2_Missense_Mutation_p.E525K NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 600 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TAAAGGAGAAGAAACATTTCG 0.318 6 27 --- --- --- --- PASS CLSPN 63967 broad.mit.edu 37 1 36202137 36202137 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:36202137G>A uc001bzi.2 - 25 4060 c.3980C>T c.(3979-3981)TCA>TTA p.S1327L CLSPN_uc009vux.2_Missense_Mutation_p.S1263L NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 1327 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CGTCAATCCTGAAGTGCTATC 0.443 9 64 --- --- --- --- PASS EIF2C3 192669 broad.mit.edu 37 1 36479647 36479647 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:36479647G>C uc001bzp.2 + 11 1660 c.1404G>C c.(1402-1404)TTG>TTC p.L468F EIF2C3_uc001bzq.2_Missense_Mutation_p.L234F NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 468 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAGAAATATTGAAGTAAGACA 0.378 6 91 --- --- --- --- PASS FAM176B 55194 broad.mit.edu 37 1 36788602 36788602 + Missense_Mutation SNP T G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:36788602T>G uc001cai.1 - 1 248 c.37A>C c.(37-39)AAC>CAC p.N13H C1orf113_uc010oic.1_Intron|FAM176B_uc001caj.1_Missense_Mutation_p.N13H NM_018166 NP_060636 Q9NVM1 F176B_HUMAN hypothetical protein LOC55194 13 integral to membrane pancreas(1) 1 GCCAGGCTGTTGCTGAGCAAC 0.667 9 21 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45484503 45484503 + Missense_Mutation SNP T G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:45484503T>G uc001cnd.2 - 14 3409 c.3181A>C c.(3181-3183)ATC>CTC p.I1061L NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 1061 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) ACCAGGGGGATGAGAGCTGCC 0.582 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 28 --- --- --- --- PASS SPATA6 54558 broad.mit.edu 37 1 48771547 48771547 + Nonsense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:48771547C>A uc001crr.1 - 12 1363 c.1198G>T c.(1198-1200)GAG>TAG p.E400* SPATA6_uc001crs.1_Nonsense_Mutation_p.E384*|SPATA6_uc010omv.1_Nonsense_Mutation_p.E386* NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 400 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 AGGTCTCTCTCATCCTGAAAA 0.368 19 53 --- --- --- --- PASS NRD1 4898 broad.mit.edu 37 1 52266248 52266248 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:52266248G>C uc001ctc.3 - 23 2947 c.2625C>G c.(2623-2625)ATC>ATG p.I875M NRD1_uc009vzb.2_Missense_Mutation_p.I570M|NRD1_uc001ctd.3_Missense_Mutation_p.I807M|NRD1_uc001cte.2_Missense_Mutation_p.I743M|NRD1_uc001ctf.2_Missense_Mutation_p.I807M|NRD1_uc010ong.1_RNA NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 806 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 TCTCGGGCTTGATGAGGATGT 0.428 5 114 --- --- --- --- PASS CPT2 1376 broad.mit.edu 37 1 53676146 53676146 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:53676146C>G uc001cvb.3 + 4 1315 c.800C>G c.(799-801)TCG>TGG p.S267W NM_000098 NP_000089 P23786 CPT2_HUMAN carnitine O-palmitoyltransferase precursor 267 Mitochondrial matrix (By similarity). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity 0 L-Carnitine(DB00583)|Perhexiline(DB01074) GTGAGCCCCTCGGAAATCCAG 0.512 6 83 --- --- --- --- PASS ALG6 29929 broad.mit.edu 37 1 63876833 63876833 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:63876833C>G uc010oow.1 + 8 816 c.511C>G c.(511-513)CTT>GTT p.L171V ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA|ALG6_uc010oox.1_5'UTR NM_013339 NP_037471 Q9Y672 ALG6_HUMAN dolichyl pyrophosphate Man9GlcNAc2 171 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity 0 TTCTGTGAGTCTTGGCTTTGC 0.358 4 116 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70504896 70504896 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:70504896C>T uc001dep.2 + 19 3305 c.3275C>T c.(3274-3276)TCT>TTT p.S1092F LRRC7_uc009wbg.2_Missense_Mutation_p.S376F|LRRC7_uc001deq.2_Missense_Mutation_p.S333F NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1092 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCTCAGCCATCTGTGAATGAG 0.532 17 37 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70518754 70518754 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:70518754G>T uc001dep.2 + 21 4072 c.4042G>T c.(4042-4044)GTA>TTA p.V1348L LRRC7_uc009wbg.2_Missense_Mutation_p.V632L|LRRC7_uc001deq.2_Missense_Mutation_p.V542L NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1348 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ACAAGAAGATGTATCTCCTAG 0.408 11 45 --- --- --- --- PASS ASB17 127247 broad.mit.edu 37 1 76387905 76387905 + Missense_Mutation SNP T G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:76387905T>G uc001dhe.1 - 2 681 c.541A>C c.(541-543)ATT>CTT p.I181L ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 181 intracellular signal transduction ovary(1) 1 GTTAAGACAATGTTGATAGGG 0.363 10 36 --- --- --- --- PASS LPHN2 23266 broad.mit.edu 37 1 82436211 82436211 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:82436211G>C uc001dit.3 + 15 3077 c.2896G>C c.(2896-2898)GAA>CAA p.E966Q LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.E966Q|LPHN2_uc001div.2_Missense_Mutation_p.E966Q|LPHN2_uc009wcd.2_Missense_Mutation_p.E966Q|LPHN2_uc001diw.2_Missense_Mutation_p.E550Q|LPHN2_uc009wce.1_Missense_Mutation_p.E52Q NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 979 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTATGGAACAGAAAAAGCGTA 0.373 9 27 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86590590 86590590 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:86590590C>A uc001dlj.2 - 3 1471 c.1429G>T c.(1429-1431)GAT>TAT p.D477Y COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.D477Y NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 477 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) GTATTTAGATCCTCATAATAA 0.338 9 27 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103461545 103461545 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:103461545C>G uc001dul.2 - 27 2613 c.2295G>C c.(2293-2295)AAG>AAC p.K765N COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.K777N|COL11A1_uc001dun.2_Missense_Mutation_p.K726N|COL11A1_uc009weh.2_Missense_Mutation_p.K649N NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 765 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTAACGTTACCTTTACTCCCC 0.398 3 33 --- --- --- --- PASS CSDE1 7812 broad.mit.edu 37 1 115269613 115269613 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:115269613T>C uc001efk.2 - 13 1921 c.1455A>G c.(1453-1455)ATA>ATG p.I485M CSDE1_uc001efi.2_Missense_Mutation_p.I531M|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.I454M|CSDE1_uc001efm.2_Missense_Mutation_p.I500M|CSDE1_uc009wgv.2_Missense_Mutation_p.I485M|CSDE1_uc001efn.2_Missense_Mutation_p.I454M NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 485 CSD 6. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTTATCTCCTATTTGAGGAG 0.403 8 18 --- --- --- --- PASS UBAP2L 9898 broad.mit.edu 37 1 154227733 154227733 + Missense_Mutation SNP A C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:154227733A>C uc001fep.3 + 17 2182 c.2015A>C c.(2014-2016)CAT>CCT p.H672P UBAP2L_uc009wot.2_Missense_Mutation_p.H672P|UBAP2L_uc010pek.1_Missense_Mutation_p.H664P|UBAP2L_uc010pel.1_Missense_Mutation_p.H682P|UBAP2L_uc010pen.1_Missense_Mutation_p.H586P|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 672 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACCAATCAGCATTCATCCTCC 0.502 10 68 --- --- --- --- PASS UBAP2L 9898 broad.mit.edu 37 1 154227736 154227736 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:154227736C>T uc001fep.3 + 17 2185 c.2018C>T c.(2017-2019)TCA>TTA p.S673L UBAP2L_uc009wot.2_Missense_Mutation_p.S673L|UBAP2L_uc010pek.1_Missense_Mutation_p.S665L|UBAP2L_uc010pel.1_Missense_Mutation_p.S683L|UBAP2L_uc010pen.1_Missense_Mutation_p.S587L|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 673 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AATCAGCATTCATCCTCCTTG 0.507 9 71 --- --- --- --- PASS CD5L 922 broad.mit.edu 37 1 157805709 157805709 + Nonsense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:157805709C>A uc001frk.3 - 3 435 c.292G>T c.(292-294)GGA>TGA p.G98* NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 98 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCTTCTGTTCCTGTGCAACTG 0.493 52 104 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158644424 158644424 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:158644424C>A uc001fst.1 - 9 1353 c.1154G>T c.(1153-1155)TGG>TTG p.W385L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 385 Spectrin 5. 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) CTCGTTCATCCAGCCTGAGAG 0.468 6 124 --- --- --- --- PASS FCER1G 2207 broad.mit.edu 37 1 161185114 161185114 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:161185114G>A uc001fyz.1 + 1 28 c.3G>A c.(1-3)ATG>ATA p.M1I FCER1G_uc001fza.1_Missense_Mutation_p.M1I NM_004106 NP_004097 P30273 FCERG_HUMAN Fc fragment of IgE, high affinity I, receptor 1 platelet activation integral to plasma membrane 0 all_cancers(52;1.35e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Benzylpenicilloyl Polylysine(DB00895) AGCCCAAGATGATTCCAGCAG 0.572 20 58 --- --- --- --- PASS UHMK1 127933 broad.mit.edu 37 1 162468041 162468041 + Missense_Mutation SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:162468041A>T uc001gcc.1 + 1 387 c.251A>T c.(250-252)CAG>CTG p.Q84L UHMK1_uc001gcb.1_Intron|UHMK1_uc009wuu.1_Missense_Mutation_p.Q84L NM_175866 NP_787062 Q8TAS1 UHMK1_HUMAN kinase interacting stathmin 84 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding 0 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) GAACAGTTGCAGGGTCACAGA 0.602 5 21 --- --- --- --- PASS DDR2 4921 broad.mit.edu 37 1 162725039 162725039 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:162725039G>T uc001gcf.2 + 7 976 c.511G>T c.(511-513)GAC>TAC p.D171Y DDR2_uc001gcg.2_Missense_Mutation_p.D171Y NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 171 Extracellular (Potential).|F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCCAGTCACCGACCACTCCAT 0.478 12 48 --- --- --- --- PASS TBX19 9095 broad.mit.edu 37 1 168260586 168260586 + Missense_Mutation SNP T G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:168260586T>G uc001gfl.2 + 2 443 c.392T>G c.(391-393)TTT>TGT p.F131C TBX19_uc001gfj.3_Missense_Mutation_p.F62C NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 131 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) TCCCCCAACTTTGGGGCCCAC 0.602 30 107 --- --- --- --- PASS SERPINC1 462 broad.mit.edu 37 1 173873178 173873178 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:173873178G>T uc001gjt.2 - 7 1363 c.1244C>A c.(1243-1245)GCT>GAT p.A415D NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 415 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GGTACTTGCAGCTGCTTCACT 0.463 7 42 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175362941 175362941 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:175362941C>A uc001gkp.1 - 4 1412 c.1331G>T c.(1330-1332)GGG>GTG p.G444V TNR_uc009wwu.1_Missense_Mutation_p.G444V|TNR_uc010pmz.1_3'UTR NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 444 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GATTTCCCACCCATCGAAGGA 0.473 38 195 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 179966134 179966134 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:179966134A>G uc001gnt.2 + 6 1225 c.842A>G c.(841-843)AAA>AGA p.K281R CEP350_uc001gnr.1_Missense_Mutation_p.K255R|CEP350_uc009wxl.2_Missense_Mutation_p.K280R|CEP350_uc001gnu.2_Missense_Mutation_p.K115R NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 281 centrosome|nucleus|spindle ovary(4) 4 CATGATGTCAAACTGGAAAAA 0.423 30 97 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186017921 186017921 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:186017921C>T uc001grq.1 + 42 6756 c.6527C>T c.(6526-6528)GCA>GTA p.A2176V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2176 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACTTGTGAAGCAACAAATGTT 0.358 17 28 --- --- --- --- PASS TROVE2 6738 broad.mit.edu 37 1 193038725 193038725 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:193038725G>C uc001gss.2 + 2 716 c.541G>C c.(541-543)GAT>CAT p.D181H TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.D181H|TROVE2_uc001gsw.2_Missense_Mutation_p.D181H|TROVE2_uc009wyp.2_Missense_Mutation_p.D181H|TROVE2_uc009wyq.2_Missense_Mutation_p.D181H|TROVE2_uc001gsx.1_Missense_Mutation_p.D181H NM_004600 NP_004591 P10155 RO60_HUMAN TROVE domain family, member 2 isoform 2 181 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 GTCTCACAAAGATCTATTAAG 0.418 11 61 --- --- --- --- PASS FAM58B 339521 broad.mit.edu 37 1 200183337 200183337 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:200183337G>C uc009wzi.1 + 1 682 c.646G>C c.(646-648)GAG>CAG p.E216Q NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 216 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) CGCCGAGGTCGAGGCTGAGAA 0.562 16 42 --- --- --- --- PASS IKBKE 9641 broad.mit.edu 37 1 206664179 206664179 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:206664179A>G uc001hdz.1 + 17 2089 c.1721A>G c.(1720-1722)CAC>CGC p.H574R IKBKE_uc009xbv.1_Missense_Mutation_p.H574R|IKBKE_uc001hea.1_Missense_Mutation_p.H489R NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 574 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) GAGCAGATTCACAAGCTGGAT 0.557 OREG0014171 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 33 --- --- --- --- PASS CD34 947 broad.mit.edu 37 1 208072428 208072428 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:208072428G>A uc001hgw.1 - 3 664 c.406C>T c.(406-408)CCT>TCT p.P136S CD34_uc001hgx.1_Missense_Mutation_p.P136S|CD34_uc010psj.1_Intron NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 136 Extracellular (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 GACAGGCTAGGCTTCAAGGTT 0.463 5 177 --- --- --- --- PASS ANGEL2 90806 broad.mit.edu 37 1 213186487 213186487 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:213186487G>A uc001hjz.2 - 2 488 c.333C>T c.(331-333)TAC>TAT p.Y111Y ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron|ANGEL2_uc001hkb.2_Silent_p.Y89Y NM_144567 NP_653168 Q5VTE6 ANGE2_HUMAN LOC90806 protein 111 0 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CGTTCATGACGTAACTAGAGA 0.428 22 68 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216850613 216850613 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:216850613C>A uc001hkw.1 - 2 443 c.277G>T c.(277-279)GGT>TGT p.G93C ESRRG_uc001hky.1_Missense_Mutation_p.G70C|ESRRG_uc009xdp.1_Missense_Mutation_p.G70C|ESRRG_uc001hkz.1_Missense_Mutation_p.G70C|ESRRG_uc010puc.1_Missense_Mutation_p.G70C|ESRRG_uc001hla.1_Missense_Mutation_p.G70C|ESRRG_uc001hlb.1_Missense_Mutation_p.G70C|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G70C|ESRRG_uc001hld.1_Missense_Mutation_p.G70C|ESRRG_uc001hkx.1_Missense_Mutation_p.G98C|ESRRG_uc009xdo.1_Missense_Mutation_p.G70C|ESRRG_uc001hle.1_Missense_Mutation_p.G70C NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 93 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GGCCCACTACCTCCCAGGATA 0.527 16 62 --- --- --- --- PASS RRP15 51018 broad.mit.edu 37 1 218480911 218480911 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:218480911G>T uc001hlj.2 + 4 672 c.642G>T c.(640-642)TTG>TTT p.L214F NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog 214 mitochondrion|nucleolus protein binding 0 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) TCAGTGTTTTGAGAGGGATGG 0.368 13 36 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229568773 229568773 + Missense_Mutation SNP C A A rs113546590 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:229568773C>A uc001htm.2 - 2 195 c.90G>T c.(88-90)AGG>AGT p.R30S NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 30 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGAACACGGCCCTAGGGGCGT 0.692 7 29 --- --- --- --- PASS COG2 22796 broad.mit.edu 37 1 230827305 230827305 + Nonsense_Mutation SNP G T T rs140155560 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:230827305G>T uc001htw.2 + 17 2261 c.2110G>T c.(2110-2112)GAG>TAG p.E704* COG2_uc001htx.2_Nonsense_Mutation_p.E703*|COG2_uc010pwc.1_Nonsense_Mutation_p.E577* NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 704 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GTACTTGGGAGAGCAGGTAAC 0.587 10 42 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525700 248525700 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:248525700G>T uc001ieh.1 + 1 818 c.818G>T c.(817-819)TGC>TTC p.C273F NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 273 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTGCCACCTGCTCCTCCCAC 0.542 15 98 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685656 248685656 + Missense_Mutation SNP G A A rs147303796 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr1:248685656G>A uc001ien.1 + 1 709 c.709G>A c.(709-711)GCC>ACC p.A237T NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 237 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCGCCAAAAGGCCTTTGGGAC 0.453 10 50 --- --- --- --- PASS ACP1 52 broad.mit.edu 37 2 277020 277020 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:277020G>C uc002qwg.2 + 5 430 c.334G>C c.(334-336)GCT>CCT p.A112P ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Missense_Mutation_p.A112P NM_007099 NP_009030 P24666 PPAC_HUMAN acid phosphatase 1, soluble isoform b 112 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity skin(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) AACCTGCAAAGCTAAAATTGA 0.308 17 33 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15519752 15519752 + Silent SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:15519752G>C uc002rcc.1 - 30 3590 c.3564C>G c.(3562-3564)CTC>CTG p.L1188L NBAS_uc010exl.1_Silent_p.L260L|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1188 ovary(2)|liver(1)|skin(1) 4 AGCTATCAGTGAGGTTGGTAG 0.428 9 71 --- --- --- --- PASS FAM179A 165186 broad.mit.edu 37 2 29240096 29240096 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:29240096G>T uc010ezl.2 + 9 1472 c.1121G>T c.(1120-1122)AGG>ATG p.R374M FAM179A_uc010ymm.1_Missense_Mutation_p.R374M|FAM179A_uc002rmr.3_Intron NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 374 binding ovary(3)|skin(1) 4 CTGCTTCGGAGGCTGGAGGAG 0.582 11 82 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50280591 50280591 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:50280591C>T uc010fbp.2 - 4 1558 c.751G>A c.(751-753)GCC>ACC p.A251T NRXN1_uc002rxb.3_Missense_Mutation_p.A988T|NRXN1_uc010fbq.2_Missense_Mutation_p.A1356T|NRXN1_uc002rxe.3_Missense_Mutation_p.A1286T NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 251 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCGATGTTGGCATCGTTTTCG 0.512 5 33 --- --- --- --- PASS EFEMP1 2202 broad.mit.edu 37 2 56097912 56097912 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:56097912G>A uc002rzh.2 - 10 1593 c.1263C>T c.(1261-1263)AAC>AAT p.N421N EFEMP1_uc002rzi.2_Silent_p.N421N|EFEMP1_uc002rzj.2_Silent_p.N421N|EFEMP1_uc010ypc.1_Silent_p.N283N NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 421 Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TATTGATGGTGTTGGCATAAA 0.413 7 62 --- --- --- --- PASS COMMD1 150684 broad.mit.edu 37 2 62228088 62228088 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:62228088A>G uc002sbp.2 + 2 444 c.433A>G c.(433-435)ATA>GTA p.I145V COMMD1_uc002sbq.1_RNA NM_152516 NP_689729 Q8N668 COMD1_HUMAN MURR1 145 COMM. copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus copper ion binding|protein homodimerization activity ovary(1) 1 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) TGTTGCCATTATAGAGCTGGA 0.448 19 50 --- --- --- --- PASS EDAR 10913 broad.mit.edu 37 2 109513383 109513383 + Nonsense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:109513383G>A uc002teq.3 - 12 1758 c.1327C>T c.(1327-1329)CAG>TAG p.Q443* EDAR_uc010fjn.2_Nonsense_Mutation_p.Q475*|EDAR_uc010yws.1_Nonsense_Mutation_p.Q475* NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 443 Cytoplasmic (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 GCATGTGGCTGGGAGGCAGGT 0.582 6 6 --- --- --- --- PASS CBWD2 150472 broad.mit.edu 37 2 114195465 114195465 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:114195465C>G uc002tju.2 + 1 198 c.20C>G c.(19-21)TCT>TGT p.S7C CBWD2_uc002tjt.2_Missense_Mutation_p.S7C|CBWD2_uc010yxw.1_Translation_Start_Site|CBWD2_uc002tjv.2_Translation_Start_Site|CBWD2_uc010fkv.2_RNA NM_172003 NP_742000 Q8IUF1 CBWD2_HUMAN COBW domain-containing protein 2 7 ATP binding|protein binding 0 GCTGTTGGATCTGCGGATGAG 0.632 6 22 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 115200401 115200401 + Missense_Mutation SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:115200401T>A uc002tla.1 + 1 503 c.46T>A c.(46-48)TCA>ACA p.S16T NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 16 Mediates effects on KCND2.|Cytoplasmic (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 GTGTCAACCCTCAAAAACAAT 0.468 11 46 --- --- --- --- PASS CCDC93 54520 broad.mit.edu 37 2 118715998 118715998 + Silent SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:118715998G>C uc002tlj.2 - 12 1074 c.948C>G c.(946-948)CGC>CGG p.R316R CCDC93_uc010fld.1_Silent_p.R316R NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 316 Potential. large_intestine(1)|ovary(1) 2 TGACTTTCCGGCGATGTAGCT 0.403 7 30 --- --- --- --- PASS PCDP1 200373 broad.mit.edu 37 2 120383210 120383210 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:120383210G>T uc002tmb.2 + 16 1696 c.604G>T c.(604-606)GAC>TAC p.D202Y PCDP1_uc010yyq.1_Missense_Mutation_p.D332Y NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 488 cilium calmodulin binding 0 Colorectal(110;0.196) TCGTGAAATGGACAAAGAGAG 0.413 5 38 --- --- --- --- PASS MKI67IP 84365 broad.mit.edu 37 2 122485356 122485356 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:122485356C>G uc002tnk.2 - 7 903 c.826G>C c.(826-828)GAG>CAG p.E276Q uc002tnj.1_Intron NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN MKI67 interacting nucleolar phosphoprotein 276 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding 0 GTTTGAGTCTCTTGTATTTCT 0.308 5 55 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125547543 125547543 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:125547543G>A uc002tno.2 + 18 3178 c.2814G>A c.(2812-2814)CAG>CAA p.Q938Q CNTNAP5_uc010flu.2_Silent_p.Q939Q NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 938 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGAATGGACAGAAAATGGACC 0.522 15 63 --- --- --- --- PASS SAP130 79595 broad.mit.edu 37 2 128775348 128775348 + Missense_Mutation SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:128775348T>A uc002tpp.2 - 3 464 c.332A>T c.(331-333)CAT>CTT p.H111L SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.H111L|SAP130_uc002tpq.1_Missense_Mutation_p.H85L NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 111 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TGCGACAGCATGGTGTGTCGA 0.567 18 41 --- --- --- --- PASS HS6ST1 9394 broad.mit.edu 37 2 129026380 129026380 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:129026380C>A uc002tpt.3 - 2 626 c.592G>T c.(592-594)GTG>TTG p.V198L NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 198 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CCCCTCTGCACATGCCGCCAC 0.637 4 23 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141110606 141110606 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:141110606G>A uc002tvj.1 - 76 12538 c.11566C>T c.(11566-11568)CAT>TAT p.H3856Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3856 Extracellular (Potential).|EGF-like 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATACATTGATGGGAACATGTG 0.363 TSP Lung(27;0.18) 12 52 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141113992 141113992 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:141113992A>G uc002tvj.1 - 75 12421 c.11449T>C c.(11449-11451)TAT>CAT p.Y3817H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3817 Extracellular (Potential).|EGF-like 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGATTACAATATGCATCATCT 0.323 TSP Lung(27;0.18) 3 17 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141294240 141294240 + Missense_Mutation SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:141294240A>T uc002tvj.1 - 46 8524 c.7552T>A c.(7552-7554)TGT>AGT p.C2518S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2518 Extracellular (Potential).|LDL-receptor class A 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCATTTCCACATTCAAACTCC 0.383 TSP Lung(27;0.18) 8 32 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145158874 145158874 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:145158874G>T uc002tvu.2 - 7 1288 c.808C>A c.(808-810)CAC>AAC p.H270N ZEB2_uc002tvv.2_Missense_Mutation_p.H264N|ZEB2_uc010zbm.1_Missense_Mutation_p.H241N|ZEB2_uc010fnp.2_Missense_Mutation_p.H178N|ZEB2_uc010fnq.1_Missense_Mutation_p.H299N NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 270 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) AGCATTTGGTGCTATAAAAGG 0.393 9 53 --- --- --- --- PASS GPD2 2820 broad.mit.edu 37 2 157436286 157436286 + Missense_Mutation SNP A C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:157436286A>C uc002tzf.3 + 16 2404 c.2044A>C c.(2044-2046)AAT>CAT p.N682H GPD2_uc010zch.1_Missense_Mutation_p.N455H|GPD2_uc002tzd.3_Missense_Mutation_p.N682H|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 682 EF-hand 2.|Potential. cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 GGTTGAACTCAATGAATTTTT 0.303 9 20 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162929976 162929976 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:162929976C>A uc002ubz.2 - 2 588 c.27G>T c.(25-27)CTG>CTT p.L9L DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 9 Helical; Signal-anchor for type II membrane protein; (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) CCAGCAGTCCCAGAAGAACCT 0.542 12 28 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166856244 166856244 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:166856244C>G uc010zcz.1 - 22 4312 c.4294G>C c.(4294-4296)GAT>CAT p.D1432H SCN1A_uc002udo.3_Missense_Mutation_p.D1312H|SCN1A_uc010fpk.2_Missense_Mutation_p.D1284H NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1443 III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTCTGGAATCAACTGCTGCA 0.313 4 54 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168105057 168105057 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:168105057G>A uc002udx.2 + 8 7173 c.7155G>A c.(7153-7155)CCG>CCA p.P2385P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P2210P|XIRP2_uc010fpq.2_Silent_p.P2163P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2210 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CCTCTGCTCCGGAAAAGCACA 0.453 15 51 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170177289 170177289 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:170177289C>A uc002ues.2 - 2 398 c.185G>T c.(184-186)TGC>TTC p.C62F LRP2_uc010zdf.1_Missense_Mutation_p.C62F NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 62 LDL-receptor class A 1.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCACTTACCGCAGCCAATTTC 0.493 4 39 --- --- --- --- PASS KLHL23 151230 broad.mit.edu 37 2 170592730 170592730 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:170592730G>C uc002ufh.1 + 4 1544 c.1206G>C c.(1204-1206)ATG>ATC p.M402I KLHL23_uc002ufi.1_Missense_Mutation_p.M402I NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 402 Kelch 3. 0 TTGCAAACATGATTAAAGGTA 0.388 23 66 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179396364 179396364 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:179396364G>A uc010zfg.1 - 307 97498 c.97274C>T c.(97273-97275)ACG>ATG p.T32425M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26120M|TTN_uc010zfi.1_Missense_Mutation_p.T26053M|TTN_uc010zfj.1_Missense_Mutation_p.T25928M|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33352 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) GACTCCACTCGTGTTGGTGTA 0.453 12 47 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179396750 179396750 + Silent SNP C T T rs144094650 by1000genomes TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:179396750C>T uc010zfg.1 - 307 97112 c.96888G>A c.(96886-96888)CCG>CCA p.P32296P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P25991P|TTN_uc010zfi.1_Silent_p.P25924P|TTN_uc010zfj.1_Silent_p.P25799P|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33223 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) ATTCCTCAGCCGGTTGTGGAC 0.532 9 29 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611100 179611100 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:179611100T>C uc002unb.2 - 46 16251 c.16027A>G c.(16027-16029)ATG>GTG p.M5343V 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) CTCACAATCATACTTTTATGG 0.328 5 20 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179640092 179640092 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:179640092G>T uc010zfg.1 - 28 6723 c.6499C>A c.(6499-6501)CTT>ATT p.L2167I TTN_uc010zfh.1_Missense_Mutation_p.L2121I|TTN_uc010zfi.1_Missense_Mutation_p.L2121I|TTN_uc010zfj.1_Missense_Mutation_p.L2121I|TTN_uc002unb.2_Missense_Mutation_p.L2167I|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2167 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) CCTTGGACAAGTAAGAATGCG 0.408 9 48 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179664420 179664420 + Silent SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:179664420T>A uc002und.2 - 6 933 c.708A>T c.(706-708)ACA>ACT p.T236T TTN_uc010zfg.1_Silent_p.T236T|TTN_uc010zfh.1_Silent_p.T236T|TTN_uc010zfi.1_Silent_p.T236T|TTN_uc010zfj.1_Silent_p.T236T|TTN_uc002unb.2_Silent_p.T236T Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 236 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) CCATCTCAACTGTTGCAATTG 0.493 9 30 --- --- --- --- PASS NEU2 4759 broad.mit.edu 37 2 233899557 233899557 + Silent SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:233899557C>G uc010zmn.1 + 2 933 c.933C>G c.(931-933)CTC>CTG p.L311L NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 311 exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GTGCCTACCTCAACCCGCGAC 0.697 3 32 --- --- --- --- PASS OXNAD1 92106 broad.mit.edu 37 3 16327951 16327951 + Nonsense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:16327951C>T uc003caw.2 + 5 743 c.286C>T c.(286-288)CAG>TAG p.Q96* OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Nonsense_Mutation_p.Q96*|OXNAD1_uc011awb.1_Nonsense_Mutation_p.Q114* NM_138381 NP_612390 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 96 FAD-binding FR-type. oxidoreductase activity skin(1) 1 TAAAGCTGGCCAGTGGTAAGT 0.463 12 31 --- --- --- --- PASS EOMES 8320 broad.mit.edu 37 3 27758626 27758626 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:27758626C>T uc003cdx.2 - 6 1996 c.1996G>A c.(1996-1998)GAA>AAA p.E666K EOMES_uc003cdy.3_Missense_Mutation_p.E685K|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.E390K NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 666 Required for transcription activation (By similarity). CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 CTATACTCTTCAGCATTAATG 0.393 5 101 --- --- --- --- PASS HEMK1 51409 broad.mit.edu 37 3 50617290 50617290 + Silent SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:50617290G>T uc003dau.2 + 9 1082 c.786G>T c.(784-786)GCG>GCT p.A262A HEMK1_uc003dav.2_Silent_p.A262A|HEMK1_uc003daw.2_Silent_p.A262A NM_016173 NP_057257 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 262 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) AAGACCCCGCGGCCCTGGATG 0.572 8 18 --- --- --- --- PASS IFT57 55081 broad.mit.edu 37 3 107885739 107885739 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:107885739C>A uc003dwx.3 - 8 1191 c.943G>T c.(943-945)GTT>TTT p.V315F NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 315 Potential. activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TATTCTTGAACCAAATTCTCA 0.373 13 31 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119134765 119134765 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:119134765C>T uc003ecj.3 + 12 4521 c.3989C>T c.(3988-3990)TCT>TTT p.S1330F NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1330 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GAGCGACCATCTGGGGGTTCT 0.522 7 105 --- --- --- --- PASS GTF2E1 2960 broad.mit.edu 37 3 120500143 120500143 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:120500143G>T uc003edz.3 + 5 1260 c.1146G>T c.(1144-1146)GAG>GAT p.E382D NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 382 Asp/Glu-rich (acidic). interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) AGGATGAAGAGGAAGATGACG 0.537 5 108 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121208732 121208732 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:121208732C>A uc003eee.3 - 16 3175 c.3046G>T c.(3046-3048)GTT>TTT p.V1016F POLQ_uc003eed.2_Missense_Mutation_p.V188F NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1016 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAAGTCTGAACAACTTTCTTA 0.363 DNA_polymerases_(catalytic_subunits) 11 73 --- --- --- --- PASS NEK11 79858 broad.mit.edu 37 3 130871272 130871272 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:130871272C>G uc003eny.2 + 8 1014 c.688C>G c.(688-690)CAT>GAT p.H230D NEK11_uc003enx.2_Missense_Mutation_p.H230D|NEK11_uc003eoa.2_Missense_Mutation_p.H230D|NEK11_uc003enz.2_Missense_Mutation_p.H48D|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.H82D|NEK11_uc011bll.1_Intron|NEK11_uc011blm.1_Missense_Mutation_p.H230D|NEK11_uc010hto.1_Missense_Mutation_p.H82D NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 230 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 CTGCATGAATCATGCATTCGC 0.343 18 80 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142178212 142178212 + Silent SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:142178212T>A uc003eux.3 - 43 7328 c.7206A>T c.(7204-7206)ACA>ACT p.T2402T ATR_uc003euy.1_Silent_p.T288T NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2402 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GTTCTTTTCCTGTCATATACA 0.383 Other_conserved_DNA_damage_response_genes 9 21 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164756916 164756916 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:164756916C>A uc003fei.2 - 20 2313 c.2251G>T c.(2251-2253)GAT>TAT p.D751Y NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 751 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTCACAGTATCTGCTCCCTAA 0.294 HNSCC(35;0.089) 4 6 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165548739 165548739 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:165548739G>T uc003fem.3 - 2 243 c.83C>A c.(82-84)ACT>AAT p.T28N BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 28 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GTCATCTTCAGTATGTGACTT 0.378 5 25 --- --- --- --- PASS NDUFB5 4711 broad.mit.edu 37 3 179334808 179334808 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:179334808C>T uc003fkc.2 + 4 347 c.318C>T c.(316-318)GTC>GTT p.V106V NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Silent_p.V54V NM_002492 NP_002483 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 106 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity skin(1) 1 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) AAGGCTATGTCCCAGAACACT 0.328 17 22 --- --- --- --- PASS HTR3C 170572 broad.mit.edu 37 3 183770895 183770895 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:183770895G>A uc003fmk.2 + 1 61 c.27G>A c.(25-27)CAG>CAA p.Q9Q NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 9 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTGCAAGGCAGAGTGCCCTCC 0.557 4 72 --- --- --- --- PASS HTR3C 170572 broad.mit.edu 37 3 183777395 183777395 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:183777395G>A uc003fmk.2 + 7 926 c.892G>A c.(892-894)GAC>AAC p.D298N NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 298 Helical; Name=2; (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CATGATGAATGACTTGCTCCC 0.572 8 136 --- --- --- --- PASS SENP5 205564 broad.mit.edu 37 3 196612846 196612846 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:196612846G>A uc003fwz.3 + 2 1043 c.794G>A c.(793-795)CGA>CAA p.R265Q SENP5_uc011bty.1_Missense_Mutation_p.R265Q NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 265 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AAAGCCCAGCGAAGCTGGGTA 0.483 13 46 --- --- --- --- PASS SENP5 205564 broad.mit.edu 37 3 196654687 196654687 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr3:196654687G>A uc003fwz.3 + 8 2292 c.2043G>A c.(2041-2043)CTG>CTA p.L681L SENP5_uc011bty.1_Silent_p.L635L NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 681 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AGTATTTGCTGACTGAAGCCA 0.403 9 39 --- --- --- --- PASS TADA2B 93624 broad.mit.edu 37 4 7056395 7056395 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:7056395C>T uc003gjw.3 + 2 1028 c.877C>T c.(877-879)CGG>TGG p.R293W TADA2B_uc010idi.2_Missense_Mutation_p.R218W NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 AGAACTGCAGCGGTACCGGCG 0.522 4 32 --- --- --- --- PASS SRP72 6731 broad.mit.edu 37 4 57361544 57361544 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:57361544G>A uc003hbv.2 + 17 1702 c.1662G>A c.(1660-1662)AAG>AAA p.K554K SRP72_uc010ihe.2_Silent_p.K493K NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 554 Poly-Lys. response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) TGAAAAAGAAGAAAAAGAAAA 0.254 3 14 --- --- --- --- PASS UGT2B15 7366 broad.mit.edu 37 4 69512834 69512834 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:69512834C>T uc011cal.1 - 6 1619 c.1581G>A c.(1579-1581)AAG>AAA p.K527K NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 527 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 AATCTCTTTTCTTCTTCTTTC 0.388 19 80 --- --- --- --- PASS SMR3A 26952 broad.mit.edu 37 4 71232643 71232643 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:71232643C>G uc003hfg.1 + 3 418 c.337C>G c.(337-339)CCA>GCA p.P113A SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 113 Pro-rich. extracellular region 0 all_hematologic(202;0.196) AAGACCCTATCCACCTGGACC 0.532 12 52 --- --- --- --- PASS GK2 2712 broad.mit.edu 37 4 80328533 80328533 + Missense_Mutation SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:80328533T>A uc003hlu.2 - 1 840 c.822A>T c.(820-822)CAA>CAT p.Q274H NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 274 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 TGTTTTTGGCTTGTCCCTCCT 0.458 15 70 --- --- --- --- PASS C4orf37 285555 broad.mit.edu 37 4 99064295 99064295 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:99064295C>T uc003htt.1 - 1 97 c.7G>A c.(7-9)GAT>AAT p.D3N NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 3 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) GGAGCCCGATCATACATAGTG 0.577 OREG0016268 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 --- --- --- --- PASS LRIT3 345193 broad.mit.edu 37 4 110791573 110791573 + Silent SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:110791573A>T uc003hzx.3 + 3 1726 c.1533A>T c.(1531-1533)CCA>CCT p.P511P LRIT3_uc003hzw.3_Silent_p.P373P NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and 511 Fibronectin type-III. integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GTGTCTGTCCAAAAGGAGTGC 0.498 8 42 --- --- --- --- PASS EGF 1950 broad.mit.edu 37 4 110865119 110865119 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:110865119G>C uc003hzy.3 + 4 1083 c.631G>C c.(631-633)GAT>CAT p.D211H EGF_uc011cfu.1_Missense_Mutation_p.D211H|EGF_uc011cfv.1_Missense_Mutation_p.D211H NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 211 LDL-receptor class B 3.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGATGTGCTTGATAAGCGGCT 0.443 10 22 --- --- --- --- PASS TMEM155 132332 broad.mit.edu 37 4 122682747 122682747 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:122682747G>T uc003idx.1 - 5 717 c.158C>A c.(157-159)GCA>GAA p.A53E TMEM155_uc003idy.1_Missense_Mutation_p.A53E NM_152399 NP_689612 Q4W5P6 TM155_HUMAN transmembrane protein 155 precursor 53 extracellular region 0 CTGGCACCTTGCCATTCCCAG 0.413 4 42 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126328188 126328188 + Nonsense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:126328188C>T uc003ifj.3 + 3 5461 c.5461C>T c.(5461-5463)CAG>TAG p.Q1821* FAT4_uc011cgp.1_Nonsense_Mutation_p.Q119* NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1821 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGATGGTCTTCAGTCCTCGGA 0.478 7 83 --- --- --- --- PASS SORBS2 8470 broad.mit.edu 37 4 186545038 186545038 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:186545038G>A uc003iyl.2 - 13 2391 c.1533C>T c.(1531-1533)TCC>TCT p.S511S SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.S611S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.S415S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.S625S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 511 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TTTCGAATTCGGAGATGCGTG 0.572 5 61 --- --- --- --- PASS KLKB1 3818 broad.mit.edu 37 4 187171402 187171402 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr4:187171402C>T uc003iyy.2 + 7 675 c.604C>T c.(604-606)CAC>TAC p.H202Y KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.H164Y NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 202 Apple 3. 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) CACAGGTTGCCACATGAACAT 0.438 15 61 --- --- --- --- PASS CLPTM1L 81037 broad.mit.edu 37 5 1341845 1341845 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:1341845T>C uc003jch.2 - 3 440 c.394A>G c.(394-396)ACC>GCC p.T132A CLPTM1L_uc003jcg.2_5'UTR NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN CLPTM1-like 132 Extracellular (Potential). apoptosis integral to membrane breast(1)|central_nervous_system(1) 2 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) ACCATGTAGGTGGTCAGAGGA 0.562 12 66 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10410379 10410379 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:10410379G>C uc003jet.1 + 18 1865 c.1682G>C c.(1681-1683)GGA>GCA p.G561A MARCH6_uc011cmu.1_Missense_Mutation_p.G513A|MARCH6_uc003jeu.1_Missense_Mutation_p.G259A|MARCH6_uc011cmv.1_Missense_Mutation_p.G456A NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 561 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 GTGACCGCCGGATACTTGCTG 0.527 3 35 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16694532 16694532 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:16694532C>G uc003jft.3 - 27 4216 c.3748G>C c.(3748-3750)GAA>CAA p.E1250Q MYO10_uc011cnc.1_Missense_Mutation_p.E129Q|MYO10_uc011cnd.1_Missense_Mutation_p.E607Q|MYO10_uc011cne.1_Missense_Mutation_p.E607Q|MYO10_uc010itx.2_Missense_Mutation_p.E873Q NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1250 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CTGTCGTTTTCAAAGTACATC 0.552 9 145 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35644570 35644570 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:35644570G>A uc003jjo.2 + 4 639 c.528G>A c.(526-528)GAG>GAA p.E176E SPEF2_uc003jjn.1_Silent_p.E176E|SPEF2_uc003jjq.3_Silent_p.E176E NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 176 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.E176G(1) skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCATTTTGAGAAACTTGAAA 0.313 6 19 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45645292 45645292 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:45645292C>T uc003jok.2 - 2 869 c.844G>A c.(844-846)GAA>AAA p.E282K NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 282 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTTACCTCTTCCCATTGATGT 0.333 3 8 --- --- --- --- PASS PCSK1 5122 broad.mit.edu 37 5 95728791 95728791 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:95728791C>T uc003kls.1 - 14 2382 c.2176G>A c.(2176-2178)GAT>AAT p.D726N PCSK1_uc010jbi.1_Missense_Mutation_p.D416N NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 726 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAAAAAACATCAACATAGTCA 0.403 28 78 --- --- --- --- PASS CHD1 1105 broad.mit.edu 37 5 98228350 98228350 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:98228350G>T uc003knf.2 - 14 2207 c.2059C>A c.(2059-2061)CAC>AAC p.H687N NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 687 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AGCTCCTTGTGAAGGCTTGCA 0.383 13 32 --- --- --- --- PASS SRFBP1 153443 broad.mit.edu 37 5 121356289 121356289 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:121356289A>G uc003kst.1 + 6 931 c.859A>G c.(859-861)ATT>GTT p.I287V NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) CGACTTCTTCATTGGGAAAGT 0.383 17 43 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 128862084 128862084 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:128862084C>A uc003kvb.1 + 4 1003 c.1003C>A c.(1003-1005)CCA>ACA p.P335T ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 335 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GGTTGCAGACCCAGCAATGGT 0.393 10 33 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140208830 140208830 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:140208830T>C uc003lho.2 + 1 1181 c.1154T>C c.(1153-1155)GTG>GCG p.V385A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.V385A|PCDHA6_uc011dab.1_Missense_Mutation_p.V385A NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 385 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGGGCAGGTGAACTGCTCG 0.547 31 97 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140209110 140209110 + Silent SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:140209110T>C uc003lho.2 + 1 1461 c.1434T>C c.(1432-1434)TCT>TCC p.S478S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.S478S|PCDHA6_uc011dab.1_Silent_p.S478S NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 478 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACGGTGTCTGCGCGAGACG 0.647 8 21 --- --- --- --- PASS CAMK2A 815 broad.mit.edu 37 5 149631622 149631622 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:149631622G>T uc003lru.2 - 8 736 c.521C>A c.(520-522)GCA>GAA p.A174E CAMK2A_uc003lrt.2_Missense_Mutation_p.A174E|CAMK2A_uc010jhe.2_Missense_Mutation_p.A154E|CAMK2A_uc010jhf.1_Missense_Mutation_p.Q12K NM_171825 NP_741960 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II 174 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1) 1 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGAGTCCCTGCAAACCCTGC 0.552 7 20 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160059368 160059368 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:160059368C>T uc003lym.1 - 13 2235 c.1388G>A c.(1387-1389)CGA>CAA p.R463Q ATP10B_uc003lyn.2_Missense_Mutation_p.R21Q NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 463 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTCTCCAGTCGCTTAGCTGC 0.527 17 40 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12163563 12163563 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:12163563C>T uc003nac.2 + 9 7205 c.7026C>T c.(7024-7026)CCC>CCT p.P2342P HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2342 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGCACAGCCCCCAGACAGCAG 0.512 6 144 --- --- --- --- PASS HLA-F 3134 broad.mit.edu 37 6 29695871 29695871 + Silent SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:29695871T>C uc011dlx.1 + 8 1420 c.1296T>C c.(1294-1296)TCT>TCC p.S432S HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_Intron|LOC285830_uc011dlz.1_Intron NM_018950 NP_061823 P30511 HLAF_HUMAN major histocompatibility complex, class I, F Error:Variant_position_missing_in_P30511_after_alignment antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 taccagcatcttgtggggaat 0.000 7 17 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33154404 33154404 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:33154404C>A uc003ocx.1 - 5 1026 c.798G>T c.(796-798)CAG>CAT p.Q266H COL11A2_uc003ocy.1_Missense_Mutation_p.Q266H|COL11A2_uc003ocz.1_Missense_Mutation_p.Q266H|COL11A2_uc003oda.2_Missense_Mutation_p.Q266H NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 266 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 GCTCCCTCACCTGGCTCTGGG 0.577 17 45 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66205243 66205243 + Nonsense_Mutation SNP C A A rs148294551 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:66205243C>A uc011dxu.1 - 4 599 c.61G>T c.(61-63)GGA>TGA p.G21* EYS_uc003peq.2_Nonsense_Mutation_p.G21*|EYS_uc003per.1_Nonsense_Mutation_p.G21*|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 21 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CATGTTTTTCCATTTATGAAA 0.373 7 22 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70866115 70866115 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:70866115G>T uc003pfc.1 + 32 2293 c.2176G>T c.(2176-2178)GCC>TCC p.A726S COL19A1_uc010kam.1_Missense_Mutation_p.A622S NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 726 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TGATTCCATGGCCCGGAAGGT 0.493 16 26 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76022993 76022993 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:76022993A>G uc003pia.2 - 5 2928 c.2555T>C c.(2554-2556)GTT>GCT p.V852A FILIP1_uc003phy.1_Missense_Mutation_p.V852A|FILIP1_uc003phz.2_Missense_Mutation_p.V753A|FILIP1_uc010kbe.2_Missense_Mutation_p.V855A|FILIP1_uc003pib.1_Missense_Mutation_p.V604A NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 852 skin(3)|ovary(1) 4 CCTGTCTAGAACAGAAGATCT 0.458 20 60 --- --- --- --- PASS MRAP2 112609 broad.mit.edu 37 6 84772654 84772654 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:84772654T>C uc003pkg.3 + 3 360 c.170T>C c.(169-171)GTG>GCG p.V57A MRAP2_uc010kbo.2_Intron NM_138409 NP_612418 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 57 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding skin(2) 2 GCAGTCTTCGTGATTTTTATG 0.403 5 32 --- --- --- --- PASS FHL5 9457 broad.mit.edu 37 6 97058603 97058603 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:97058603C>T uc003pos.1 + 6 1065 c.660C>T c.(658-660)AAC>AAT p.N220N FHL5_uc003pot.1_Silent_p.N220N NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 220 LIM zinc-binding 3. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TTTATGCCAACAAGTGTGTAG 0.413 13 46 --- --- --- --- PASS HACE1 57531 broad.mit.edu 37 6 105224980 105224980 + Missense_Mutation SNP T G G rs145211482 byFrequency TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:105224980T>G uc003pqu.1 - 16 1961 c.1684A>C c.(1684-1686)ATT>CTT p.I562L HACE1_uc010kcy.1_Missense_Mutation_p.I44L|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Intron|HACE1_uc003pqt.1_Missense_Mutation_p.I215L NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 562 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) CTCCTAAAAATAGAATCTAAA 0.328 8 22 --- --- --- --- PASS RTN4IP1 84816 broad.mit.edu 37 6 107050751 107050751 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:107050751G>C uc003prj.2 - 5 1144 c.667C>G c.(667-669)CAG>GAG p.Q223E RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.Q123E NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 223 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) GGTTTTACCTGTATAGCAAAA 0.328 13 44 --- --- --- --- PASS FYN 2534 broad.mit.edu 37 6 112017519 112017519 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:112017519C>G uc003pvj.2 - 9 1343 c.1003G>C c.(1003-1005)GAG>CAG p.E335Q FYN_uc003pvi.2_Missense_Mutation_p.E280Q|FYN_uc003pvk.2_Missense_Mutation_p.E335Q|FYN_uc003pvh.2_Missense_Mutation_p.E332Q|FYN_uc010kdy.1_Intron NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 335 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ATGGGCTCCTCAGACACCACT 0.517 4 81 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117700284 117700284 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:117700284C>A uc003pxp.1 - 17 2734 c.2535G>T c.(2533-2535)CTG>CTT p.L845L ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 845 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCAACCAATACAGGAGCCCAT 0.393 T GOPC|ROS1 glioblastoma|NSCLC 4 29 --- --- --- --- PASS SLC35F1 222553 broad.mit.edu 37 6 118635205 118635205 + Nonsense_Mutation SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:118635205T>A uc003pxx.3 + 8 1218 c.1017T>A c.(1015-1017)TAT>TAA p.Y339* SLC35F1_uc003pxy.1_Nonsense_Mutation_p.Y144* NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 339 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) CAGGACTTTATCTCCTGTCTT 0.478 13 72 --- --- --- --- PASS TNFAIP3 7128 broad.mit.edu 37 6 138202416 138202416 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:138202416A>G uc003qhr.2 + 9 2399 c.2333A>G c.(2332-2334)TAC>TGC p.Y778C TNFAIP3_uc003qhs.2_Missense_Mutation_p.Y778C NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 778 A20-type 7. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) TGCAACGGCTACTGCAACGAA 0.607 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 24 74 --- --- --- --- PASS ESR1 2099 broad.mit.edu 37 6 152163866 152163866 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:152163866A>G uc003qom.3 + 4 957 c.587A>G c.(586-588)CAT>CGT p.H196R ESR1_uc010kin.2_Missense_Mutation_p.H196R|ESR1_uc010kio.2_Missense_Mutation_p.H196R|ESR1_uc010kip.2_Missense_Mutation_p.H196R|ESR1_uc003qon.3_Missense_Mutation_p.H196R|ESR1_uc003qoo.3_Missense_Mutation_p.H196R|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.H23R|ESR1_uc011eew.1_Missense_Mutation_p.I28V NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 196 NR C4-type.|Nuclear receptor.|Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TCAGGCTACCATTATGGAGTC 0.453 11 37 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152725365 152725365 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:152725365T>C uc010kiw.2 - 46 7410 c.6808A>G c.(6808-6810)ACA>GCA p.T2270A SYNE1_uc003qot.3_Missense_Mutation_p.T2277A|SYNE1_uc003qou.3_Missense_Mutation_p.T2270A|SYNE1_uc010kjb.1_Missense_Mutation_p.T2253A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2270 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTGGCGGTGTTTCTAGATTT 0.333 HNSCC(10;0.0054) 10 52 --- --- --- --- PASS OPRM1 4988 broad.mit.edu 37 6 154360761 154360761 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:154360761C>T uc003qpr.2 + 1 319 c.82C>T c.(82-84)CCC>TCC p.P28S OPRM1_uc011efb.1_Missense_Mutation_p.P76S|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Missense_Mutation_p.P121S|OPRM1_uc003qpn.2_Missense_Mutation_p.P28S|OPRM1_uc003qpo.1_Missense_Mutation_p.P28S|OPRM1_uc011eff.1_Missense_Mutation_p.P28S|OPRM1_uc011efg.1_Missense_Mutation_p.P28S|OPRM1_uc011efh.1_Missense_Mutation_p.P28S|OPRM1_uc003qpq.1_Missense_Mutation_p.P28S|OPRM1_uc003qpt.1_Missense_Mutation_p.P28S|OPRM1_uc011efi.1_Missense_Mutation_p.P28S|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 28 Extracellular (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AGCACCCAGCCCCGGTTCCTG 0.652 5 12 --- --- --- --- PASS SNX9 51429 broad.mit.edu 37 6 158358489 158358489 + Silent SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:158358489G>C uc003qqv.1 + 15 1640 c.1467G>C c.(1465-1467)CTG>CTC p.L489L NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 489 BAR. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) TCCATTTCCTGATGGAATGTA 0.373 4 75 --- --- --- --- PASS MRPL18 29074 broad.mit.edu 37 6 160212095 160212095 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr6:160212095T>C uc003qsw.3 + 2 304 c.176T>C c.(175-177)TTA>TCA p.L59S TCP1_uc003qsr.2_5'Flank|TCP1_uc003qss.2_5'Flank|TCP1_uc010kjz.2_5'Flank|TCP1_uc003qst.2_5'Flank|TCP1_uc010kka.1_5'Flank|MRPL18_uc010kkb.2_RNA NM_014161 NP_054880 Q9H0U6 RM18_HUMAN mitochondrial ribosomal protein L18 precursor 59 rRNA transport|translation mitochondrial ribosome 5S rRNA binding|structural constituent of ribosome 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06) CTGGAGCTTTTATCTGTAGCC 0.562 4 16 --- --- --- --- PASS ELMO1 9844 broad.mit.edu 37 7 37136261 37136261 + Silent SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:37136261G>T uc003tfk.1 - 15 1570 c.1263C>A c.(1261-1263)ACC>ACA p.T421T ELMO1_uc011kbc.1_Silent_p.T325T|ELMO1_uc010kxg.1_Silent_p.T421T NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 421 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 ATAGCATCTTGGTCAGCTCTA 0.468 10 43 --- --- --- --- PASS GUSB 2990 broad.mit.edu 37 7 65429349 65429349 + Nonsense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:65429349C>A uc003tun.2 - 11 1826 c.1750G>T c.(1750-1752)GAG>TAG p.E584* GUSB_uc011kdt.1_Nonsense_Mutation_p.E438* NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 584 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 CAAATGAGCTCTCCAACCACG 0.453 27 104 --- --- --- --- PASS RABGEF1 27342 broad.mit.edu 37 7 66270167 66270167 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:66270167G>A uc011kee.1 + 8 1067 c.903G>A c.(901-903)AAG>AAA p.K301K RABGEF1_uc003tvf.2_Silent_p.K160K|RABGEF1_uc003tvg.2_Silent_p.K95K|RABGEF1_uc010lag.2_Silent_p.K287K|RABGEF1_uc003tvh.2_Silent_p.K287K|RABGEF1_uc003tvi.2_Silent_p.K121K NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 504 VPS9. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 CTCGAGACAAGCTGGCCTGCA 0.463 15 34 --- --- --- --- PASS GNAI1 2770 broad.mit.edu 37 7 79846672 79846672 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:79846672C>G uc003uhb.1 + 8 1265 c.928C>G c.(928-930)CTC>GTC p.L310V GNAI1_uc011kgt.1_Missense_Mutation_p.L258V NM_002069 NP_002060 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), 310 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GTTTGAAGACCTCAATAAAAG 0.343 7 26 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963668 88963668 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:88963668C>A uc011khi.1 + 4 1910 c.1372C>A c.(1372-1374)CCT>ACT p.P458T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 458 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) TCTTCAATGGCCTACGGAACT 0.418 HNSCC(36;0.09) 14 57 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106508577 106508577 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:106508577C>A uc003vdv.3 + 2 656 c.571C>A c.(571-573)CGC>AGC p.R191S PIK3CG_uc003vdu.2_Missense_Mutation_p.R191S|PIK3CG_uc003vdw.2_Missense_Mutation_p.R191S NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 191 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GGTGGCCAGCCGCGACCCCAA 0.612 14 24 --- --- --- --- PASS LAMB1 3912 broad.mit.edu 37 7 107572753 107572753 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:107572753C>T uc003vew.2 - 28 4593 c.4258G>A c.(4258-4260)GAA>AAA p.E1420K LAMB1_uc003vev.2_Missense_Mutation_p.E1444K|LAMB1_uc003veu.2_5'Flank NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1420 Domain alpha. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTCTCCTTCGTCAGTTCTG 0.572 9 54 --- --- --- --- PASS LAMB4 22798 broad.mit.edu 37 7 107743501 107743501 + Missense_Mutation SNP A T T rs140607116 by1000genomes TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:107743501A>T uc010ljo.1 - 10 1252 c.1168T>A c.(1168-1170)TAC>AAC p.Y390N LAMB4_uc003vey.2_Missense_Mutation_p.Y390N NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 390 Laminin EGF-like 2. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 ATGCACGCGTAGGGATCTGAG 0.587 7 27 --- --- --- --- PASS LAMB4 22798 broad.mit.edu 37 7 107743502 107743502 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:107743502G>A uc010ljo.1 - 10 1251 c.1167C>T c.(1165-1167)CCC>CCT p.P389P LAMB4_uc003vey.2_Silent_p.P389P NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 389 Laminin EGF-like 2. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TGCACGCGTAGGGATCTGAGA 0.592 7 27 --- --- --- --- PASS C7orf60 154743 broad.mit.edu 37 7 112472715 112472715 + Silent SNP T G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:112472715T>G uc003vgo.1 - 4 616 c.489A>C c.(487-489)TCA>TCC p.S163S C7orf60_uc011kms.1_Silent_p.S189S NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 163 ovary(2)|skin(1) 3 TGATTTTTCCTGAGGCTTGTA 0.294 16 44 --- --- --- --- PASS ZNF777 27153 broad.mit.edu 37 7 149129570 149129570 + Missense_Mutation SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:149129570A>T uc003wfv.2 - 6 1956 c.1793T>A c.(1792-1794)GTG>GAG p.V598E NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GCCTCCGCGCACGCGGTGGAT 0.672 10 35 --- --- --- --- PASS GIMAP7 168537 broad.mit.edu 37 7 150217426 150217426 + Missense_Mutation SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:150217426T>A uc003whk.2 + 2 494 c.364T>A c.(364-366)TCA>ACA p.S122T NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 122 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTTGGGAAGTCAGCCATGAA 0.527 5 43 --- --- --- --- PASS GIMAP4 55303 broad.mit.edu 37 7 150269977 150269977 + Silent SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr7:150269977A>G uc003whl.2 + 3 901 c.819A>G c.(817-819)GAA>GAG p.E273E GIMAP4_uc011kuu.1_Silent_p.E134E|GIMAP4_uc011kuv.1_Silent_p.E287E NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 273 Potential. GTP binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGAGCAGGAAAAGAGAAAGA 0.468 8 44 --- --- --- --- PASS CDCA2 157313 broad.mit.edu 37 8 25317909 25317909 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:25317909C>G uc003xep.1 + 3 550 c.71C>G c.(70-72)TCT>TGT p.S24C PPP2R2A_uc003xek.2_Intron|KCTD9_uc003xeo.2_5'Flank|CDCA2_uc011lae.1_Missense_Mutation_p.S24C|CDCA2_uc003xeq.1_Missense_Mutation_p.S9C NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 24 cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GGAAATGCCTCTTTCATTTTG 0.428 28 116 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39466640 39466640 + Splice_Site SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:39466640G>T uc003xni.2 + 4 267 c.267_splice c.e4+1 p.M89_splice ADAM18_uc003xnh.2_Splice_Site_p.M89_splice|ADAM18_uc010lww.2_Splice_Site|ADAM18_uc010lwx.2_Splice_Site_p.M89_splice NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ATATTTTATGGTAAAGTAAGA 0.269 4 7 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55542146 55542146 + Nonsense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:55542146C>T uc003xsd.1 + 4 5852 c.5704C>T c.(5704-5706)CAG>TAG p.Q1902* RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1902 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGGTACACTTCAGGAAGCTGA 0.398 6 52 --- --- --- --- PASS FAM110B 90362 broad.mit.edu 37 8 59058961 59058961 + Nonsense_Mutation SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:59058961A>T uc003xtj.1 + 5 1052 c.172A>T c.(172-174)AAG>TAG p.K58* NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 58 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GGAGGCCGACAAGGCCAAGTA 0.677 8 15 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72951230 72951230 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:72951230T>C uc003xza.2 - 19 2340 c.2165A>G c.(2164-2166)AAT>AGT p.N722S uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 722 Helical; Name=1; (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AGATCCTAAATTCATCATATG 0.348 9 45 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72963055 72963055 + Nonsense_Mutation SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:72963055A>T uc003xza.2 - 15 2038 c.1863T>A c.(1861-1863)TGT>TGA p.C621* uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 621 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CTGTAATTGGACATTTATTGC 0.328 5 32 --- --- --- --- PASS GDAP1 54332 broad.mit.edu 37 8 75275277 75275277 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:75275277A>G uc003yah.2 + 5 762 c.683A>G c.(682-684)GAA>GGA p.E228G GDAP1_uc011lfj.1_Missense_Mutation_p.E113G|GDAP1_uc003yai.2_Missense_Mutation_p.E160G NM_018972 NP_061845 Q8TB36 GDAP1_HUMAN ganglioside-induced differentiation-associated 228 GST C-terminal. cytoplasm 0 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) AGAAGAAATGAAGAAACCCCA 0.348 15 63 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77761266 77761266 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:77761266G>T uc003yav.2 + 7 3799 c.3412G>T c.(3412-3414)GTG>TTG p.V1138L ZFHX4_uc003yau.1_Missense_Mutation_p.V1183L|ZFHX4_uc003yaw.1_Missense_Mutation_p.V1138L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1138 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAAGTTAGTGTGGCAGGGGG 0.388 HNSCC(33;0.089) 4 10 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765710 77765710 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:77765710C>A uc003yav.2 + 10 6805 c.6418C>A c.(6418-6420)CGA>AGA p.R2140R ZFHX4_uc003yau.1_Silent_p.R2185R|ZFHX4_uc003yaw.1_Silent_p.R2140R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2140 Homeobox 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTTTAAGGAACGACAGAGAAA 0.378 HNSCC(33;0.089) 8 107 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87679237 87679237 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:87679237C>T uc003ydx.2 - 6 814 c.768G>A c.(766-768)GCG>GCA p.A256A CNGB3_uc010maj.2_Silent_p.A118A NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 256 Helical; Name=H2; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 ATATGATGTCCGCAATAAGCC 0.438 7 42 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105361034 105361034 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:105361034T>C uc003ylx.1 + 2 303 c.254T>C c.(253-255)GTC>GCC p.V85A NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 85 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATTCTTCTTGTCTTTCTCTCT 0.473 12 28 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113246625 113246625 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:113246625A>G uc003ynu.2 - 68 10868 c.10709T>C c.(10708-10710)ATG>ACG p.M3570T CSMD3_uc003yns.2_Missense_Mutation_p.M2772T|CSMD3_uc003ynt.2_Missense_Mutation_p.M3530T|CSMD3_uc011lhx.1_Missense_Mutation_p.M3401T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3570 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTCTTCCTTCATTTTCTTCAC 0.363 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 53 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131812807 131812807 + Silent SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:131812807A>T uc003ytd.3 - 15 3181 c.2925T>A c.(2923-2925)TCT>TCA p.S975S ADCY8_uc010mds.2_Silent_p.S844S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 975 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CATAGGATTGAGAATACAGCT 0.502 HNSCC(32;0.087) 12 48 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 134042191 134042191 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:134042191G>C uc003ytw.2 + 41 7203 c.7162G>C c.(7162-7164)GGG>CGG p.G2388R TG_uc010mdw.2_Missense_Mutation_p.G1147R|TG_uc011ljb.1_Missense_Mutation_p.G757R|TG_uc011ljc.1_Missense_Mutation_p.G521R NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2388 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGACCGTGGCGGGGCTGATGT 0.642 7 9 --- --- --- --- PASS CYP11B2 1585 broad.mit.edu 37 8 143996220 143996220 + Missense_Mutation SNP T G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:143996220T>G uc003yxk.1 - 4 703 c.700A>C c.(700-702)ACC>CCC p.T234P NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 234 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AGCTGGACGGTGGATTTGAAC 0.582 Familial_Hyperaldosteronism_type_I 10 10 --- --- --- --- PASS OPLAH 26873 broad.mit.edu 37 8 145109735 145109735 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:145109735C>G uc003zar.3 - 18 2573 c.2491G>C c.(2491-2493)GAC>CAC p.D831H OPLAH_uc003zas.1_Missense_Mutation_p.D80H NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 831 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) ACAGTCAGGTCTGGCAGGTGG 0.652 3 12 --- --- --- --- PASS ZNF251 90987 broad.mit.edu 37 8 145947489 145947489 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr8:145947489C>T uc003zdv.3 - 5 1812 c.1556G>A c.(1555-1557)AGA>AAA p.R519K NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) ACCATGTTTTCTGCACTTACG 0.527 5 93 --- --- --- --- PASS JAK2 3717 broad.mit.edu 37 9 5066761 5066761 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr9:5066761A>G uc010mhm.2 + 9 1411 c.1298A>G c.(1297-1299)AAT>AGT p.N433S JAK2_uc003ziw.2_Missense_Mutation_p.N433S NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 433 SH2; atypical. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) AAGGACTTTAATAAATATTTT 0.328 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 5 9 --- --- --- --- PASS NFIB 4781 broad.mit.edu 37 9 14307382 14307382 + Silent SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr9:14307382T>A uc003zle.2 - 2 603 c.168A>T c.(166-168)GCA>GCT p.A56A NFIB_uc003zlf.2_Silent_p.A56A|NFIB_uc011lmo.1_Silent_p.A56A NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 56 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) CATCTTTGACTGCTCTTTCTT 0.453 T MYB|HGMA2 adenoid cystic carcinoma|lipoma 10 28 --- --- --- --- PASS TEK 7010 broad.mit.edu 37 9 27206656 27206656 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr9:27206656C>A uc003zqi.3 + 15 2883 c.2441C>A c.(2440-2442)ACA>AAA p.T814K TEK_uc011lno.1_Missense_Mutation_p.T771K|TEK_uc011lnp.1_Missense_Mutation_p.T666K|TEK_uc003zqj.1_Missense_Mutation_p.T748K NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 814 Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CCAGATCCTACAATTTATCCA 0.438 15 11 --- --- --- --- PASS PAX5 5079 broad.mit.edu 37 9 36846882 36846882 + Missense_Mutation SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr9:36846882A>T uc003zzo.1 - 9 1505 c.1057T>A c.(1057-1059)TCG>ACG p.S353T PAX5_uc011lpt.1_Missense_Mutation_p.S149T|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.S253T|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.S310T|PAX5_uc011lqa.1_Missense_Mutation_p.S245T|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.S319T|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Silent_p.P275P NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 353 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(11) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) TCGTTGTACGAGGAATACTGA 0.592 T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 10 19 --- --- --- --- PASS FOXB2 442425 broad.mit.edu 37 9 79635629 79635629 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr9:79635629C>T uc004ako.1 + 1 1059 c.1059C>T c.(1057-1059)CAC>CAT p.H353H NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 353 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CCCTGTGCCACTCGGCAAGCC 0.602 3 3 --- --- --- --- PASS NCBP1 4686 broad.mit.edu 37 9 100433431 100433431 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr9:100433431G>C uc004axq.2 + 23 2782 c.2323G>C c.(2323-2325)GAC>CAC p.D775H NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 775 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) TGCTGAATTAGACCCTCATAT 0.438 13 50 --- --- --- --- PASS TMEFF1 8577 broad.mit.edu 37 9 103261052 103261052 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr9:103261052A>G uc004baz.1 + 2 312 c.202A>G c.(202-204)AAT>GAT p.N68D TMEFF1_uc004bay.1_Missense_Mutation_p.N142D NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two 68 Extracellular (Potential). multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) TGCAGAATTAAATGTGAGGGA 0.269 3 41 --- --- --- --- PASS OR13C9 286362 broad.mit.edu 37 9 107380010 107380010 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr9:107380010T>C uc011lvr.1 - 1 476 c.476A>G c.(475-477)CAA>CGA p.Q159R NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAATGTAGTTTGTACTGCAGA 0.438 22 47 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16893354 16893354 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:16893354C>A uc001ioo.2 - 60 9595 c.9543G>T c.(9541-9543)AAG>AAT p.K3181N CUBN_uc009xjq.1_RNA NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3181 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGTTTAAATTCTTGTCATACA 0.408 21 22 --- --- --- --- PASS ST8SIA6 338596 broad.mit.edu 37 10 17363099 17363099 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:17363099C>T uc001ipd.2 - 8 975 c.975G>A c.(973-975)TTG>TTA p.L325L ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 325 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 TTGTGATCATCAAGCCGGTGG 0.443 47 71 --- --- --- --- PASS MTPAP 55149 broad.mit.edu 37 10 30602551 30602551 + Missense_Mutation SNP C G G rs148562969 by1000genomes TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:30602551C>G uc001iva.3 - 9 1799 c.1736G>C c.(1735-1737)AGT>ACT p.S579T MTPAP_uc001ivb.3_Missense_Mutation_p.S709T NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 579 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 TGTCTGAGTACTAATTGTTCT 0.358 35 61 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38344864 38344864 + Silent SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:38344864A>T uc001izh.2 + 5 1987 c.1809A>T c.(1807-1809)ACA>ACT p.T603T ZNF33A_uc001izg.2_Silent_p.T604T|ZNF33A_uc010qev.1_Silent_p.T610T|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 603 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 GAACACATACAGGGGAGAAAC 0.373 14 25 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50819812 50819812 + Silent SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:50819812C>G uc001jhw.2 + 1 1466 c.1026C>G c.(1024-1026)GTC>GTG p.V342V CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 342 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 TGCTGGGCGTCTACCTCACCG 0.672 16 30 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106983002 106983002 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:106983002A>G uc001kyi.1 + 20 3090 c.2863A>G c.(2863-2865)ACA>GCA p.T955A SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 955 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CGGCAATAGCACAAAGGTTTG 0.453 41 77 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118451864 118451864 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:118451864G>T uc001lct.2 - 6 766 c.661C>A c.(661-663)CAG>AAG p.Q221K HSPA12A_uc001lcu.2_Missense_Mutation_p.Q138K NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 221 ATP binding ovary(1) 1 all cancers(201;0.0158) ACCCTCACCTGGTAGGCAGCT 0.597 5 122 --- --- --- --- PASS PRLHR 2834 broad.mit.edu 37 10 120354611 120354611 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:120354611G>T uc001ldp.1 - 2 285 c.146C>A c.(145-147)CCC>CAC p.P49H NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 49 Extracellular (Potential). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GCTCTGGAAGGGCGTGACGGC 0.697 4 15 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128153547 128153547 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr10:128153547T>C uc001ljq.2 - 4 1373 c.1252A>G c.(1252-1254)AAA>GAA p.K418E C10orf90_uc001ljp.2_Intron|C10orf90_uc010qum.1_Missense_Mutation_p.K515E|C10orf90_uc009yao.2_3'UTR|C10orf90_uc001ljo.2_5'Flank NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 418 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GAAAATACTTTTGTGTGTACT 0.423 15 21 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1093094 1093094 + Missense_Mutation SNP T G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:1093094T>G uc001lsx.1 + 31 12026 c.11999T>G c.(11998-12000)GTG>GGG p.V4000G NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4000 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) accactacggtgaccccaacc 0.000 3 8 --- --- --- --- PASS OR52A4 390053 broad.mit.edu 37 11 5142713 5142713 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:5142713C>T uc001lzz.1 - 1 96 c.96G>A c.(94-96)GGG>GGA p.G32G OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGAATGGAATCCCAATCCAGC 0.423 6 145 --- --- --- --- PASS ZNF214 7761 broad.mit.edu 37 11 7021527 7021527 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:7021527C>A uc001mfa.2 - 3 1690 c.1387G>T c.(1387-1389)GTC>TTC p.V463F ZNF214_uc010ray.1_Missense_Mutation_p.V463F|ZNF214_uc009yfh.1_Missense_Mutation_p.V463F NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 463 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) CCTGTATGGACTCTCTGATGA 0.423 12 43 --- --- --- --- PASS RIC3 79608 broad.mit.edu 37 11 8132433 8132433 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:8132433G>A uc001mgd.2 - 6 976 c.922C>T c.(922-924)CAT>TAT p.H308Y RIC3_uc001mgb.2_Missense_Mutation_p.H146Y|RIC3_uc001mgc.2_Missense_Mutation_p.H307Y|RIC3_uc001mge.2_Missense_Mutation_p.H126Y|RIC3_uc010rbl.1_Missense_Mutation_p.H258Y|RIC3_uc010rbm.1_Missense_Mutation_p.H336Y|RIC3_uc009yfm.2_Missense_Mutation_p.H227Y|RIC3_uc009yfn.2_Missense_Mutation_p.H111Y NM_024557 NP_078833 Q7Z5B4 RIC3_HUMAN resistance to inhibitors of cholinesterase 3 308 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane large_intestine(1)|ovary(1)|pancreas(1) 3 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TCGTCTTCATGAAAACAGCAG 0.493 5 68 --- --- --- --- PASS INSC 387755 broad.mit.edu 37 11 15243165 15243165 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:15243165G>A uc001mly.2 + 8 1149 c.1103G>A c.(1102-1104)AGC>AAC p.S368N INSC_uc001mlz.2_Missense_Mutation_p.S321N|INSC_uc001mma.2_Missense_Mutation_p.S321N|INSC_uc010rcs.1_Missense_Mutation_p.S356N|INSC_uc001mmb.2_Missense_Mutation_p.S321N|INSC_uc001mmc.2_Missense_Mutation_p.S279N NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 368 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TTCCTGGAGAGCATGGAGGAG 0.632 6 21 --- --- --- --- PASS OR4X2 119764 broad.mit.edu 37 11 48266676 48266676 + Silent SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:48266676G>T uc001ngs.1 + 1 21 c.21G>T c.(19-21)CTG>CTT p.L7L NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCATTTTTCTGGTACTTTCTC 0.418 5 68 --- --- --- --- PASS APLNR 187 broad.mit.edu 37 11 57004291 57004291 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:57004291G>A uc001njo.2 - 1 637 c.188C>T c.(187-189)TCA>TTA p.S63L APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 63 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 GATATCAGCTGAGCGCCTCTT 0.612 10 38 --- --- --- --- PASS CCDC86 79080 broad.mit.edu 37 11 60609992 60609992 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:60609992G>A uc001nqa.2 + 1 564 c.395G>A c.(394-396)GGA>GAA p.G132E CCDC86_uc001nqb.2_Intron NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 132 Pro-rich. interspecies interaction between organisms nucleus 0 CAGGACCAGGGAGTACTGGCC 0.617 13 58 --- --- --- --- PASS DDB1 1642 broad.mit.edu 37 11 61070589 61070589 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:61070589C>A uc001nrc.3 - 23 3097 c.2871G>T c.(2869-2871)GTG>GTT p.V957V DDB1_uc010rle.1_Silent_p.V268V|DDB1_uc010rlf.1_Silent_p.V957V NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 957 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 CCAAGATTTCCACAGCACTCA 0.438 NER 6 106 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68191058 68191058 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:68191058G>A uc001ont.2 + 14 3204 c.3129G>A c.(3127-3129)GAG>GAA p.E1043E LRP5_uc009ysg.2_Silent_p.E453E NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1043 LDL-receptor class B 17.|Beta-propeller 4.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 GGACGTGCGAGGCCACCAATA 0.622 9 37 --- --- --- --- PASS NUMA1 4926 broad.mit.edu 37 11 71740319 71740319 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:71740319C>A uc001orl.1 - 4 232 c.60G>T c.(58-60)GTG>GTT p.V20V NUMA1_uc001ork.1_Silent_p.V20V|NUMA1_uc001orm.1_Silent_p.V20V|NUMA1_uc009ysx.1_Silent_p.V20V|NUMA1_uc001oro.1_Silent_p.V20V|NUMA1_uc009ysy.1_Silent_p.V20V|NUMA1_uc001orp.2_Silent_p.V20V|NUMA1_uc001orq.2_Silent_p.V20V NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 20 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CAGGGTCAGCCACGTGTAGAC 0.498 T RARA APL 3 14 --- --- --- --- PASS ELMOD1 55531 broad.mit.edu 37 11 107524922 107524922 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:107524922G>T uc010rvs.1 + 10 1076 c.672G>T c.(670-672)GAG>GAT p.E224D ELMOD1_uc001pjm.2_Missense_Mutation_p.E216D|ELMOD1_uc010rvt.1_Missense_Mutation_p.E218D NM_018712 NP_061182 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 isoform 1 224 ELMO. phagocytosis cytoskeleton GTPase activator activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CAGAATGGGAGAAGAAAAGGA 0.373 4 23 --- --- --- --- PASS FAM55A 120400 broad.mit.edu 37 11 114393009 114393009 + Missense_Mutation SNP A C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:114393009A>C uc001ppa.2 - 6 1316 c.899T>G c.(898-900)TTT>TGT p.F300C FAM55A_uc010rxd.1_Missense_Mutation_p.F149C NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 442 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) AAATGGTCTAAAGTGCTGGCC 0.438 13 44 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121028813 121028813 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:121028813C>T uc010rzo.1 + 13 4569 c.4569C>T c.(4567-4569)ATC>ATT p.I1523I NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1523 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGCCCGACATCTCCTTCCAGC 0.577 12 38 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440189 124440189 + Silent SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:124440189C>G uc010san.1 + 1 225 c.225C>G c.(223-225)CCC>CCG p.P75P NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 75 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) TGCACACCCCCATGTACTACT 0.488 9 68 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4736450 4736450 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:4736450C>A uc001qnb.3 - 4 1847 c.1618G>T c.(1618-1620)GCC>TCC p.A540S NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 540 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 CCTCCCTGGGCCAGGTGATAT 0.517 6 26 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4736451 4736451 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:4736451C>A uc001qnb.3 - 4 1846 c.1617G>T c.(1615-1617)CTG>CTT p.L539L NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 539 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 CTCCCTGGGCCAGGTGATATT 0.522 6 26 --- --- --- --- PASS GNB3 2784 broad.mit.edu 37 12 6952169 6952169 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:6952169G>A uc001qrd.2 + 5 537 c.132G>A c.(130-132)CAG>CAA p.Q44Q GNB3_uc001qrc.2_5'UTR|GNB3_uc009zfe.2_Silent_p.Q44Q NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 44 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 GACGAGTCCAGATGCGGACGC 0.597 7 24 --- --- --- --- PASS C1R 715 broad.mit.edu 37 12 7187907 7187907 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:7187907C>A uc010sfy.1 - 10 2106 c.2047G>T c.(2047-2049)GGC>TGC p.G683C NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 683 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AAGCCATAGCCCCTGCTGCAC 0.572 6 41 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7528090 7528090 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:7528090C>A uc001qsy.2 - 11 2814 c.2788G>T c.(2788-2790)GAC>TAC p.D930Y CD163L1_uc010sge.1_Missense_Mutation_p.D940Y NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 930 SRCR 9.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TCTTCTGGGTCCCAGTGGGTG 0.512 6 24 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9243921 9243921 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:9243921G>C uc001qvk.1 - 19 2458 c.2345C>G c.(2344-2346)TCC>TGC p.S782C A2M_uc009zgk.1_Missense_Mutation_p.S632C NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 782 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) AGAGGCAGTGGAAGAGATACC 0.562 21 99 --- --- --- --- PASS RAPGEF3 10411 broad.mit.edu 37 12 48142237 48142237 + Nonsense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:48142237C>A uc009zkp.2 - 11 1557 c.1117G>T c.(1117-1119)GAG>TAG p.E373* RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Nonsense_Mutation_p.E373*|RAPGEF3_uc001rpz.3_Nonsense_Mutation_p.E415*|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Nonsense_Mutation_p.E427* NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 373 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TTGCCCTTACCTGTTGGGTCA 0.532 4 31 --- --- --- --- PASS KRT2 3849 broad.mit.edu 37 12 53038841 53038841 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:53038841C>G uc001sat.2 - 9 1915 c.1882G>C c.(1882-1884)GAA>CAA p.E628Q NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 628 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) CCAAAAGCTTCACCTGAGCTA 0.537 6 88 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57594585 57594585 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:57594585C>T uc001snd.2 + 64 10678 c.10212C>T c.(10210-10212)GAC>GAT p.D3404D NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3404 Extracellular (Potential).|LDL-receptor class A 22. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACAACAGTGACGAGGCCAACT 0.597 5 53 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62887715 62887715 + Nonsense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:62887715G>T uc001sre.2 + 3 587 c.196G>T c.(196-198)GAG>TAG p.E66* MON2_uc009zqj.2_Nonsense_Mutation_p.E66*|MON2_uc010ssl.1_5'UTR|MON2_uc010ssm.1_Nonsense_Mutation_p.E66*|MON2_uc010ssn.1_Nonsense_Mutation_p.E66*|MON2_uc001srd.1_Intron NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 66 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GAACAGCTCAGAGGTTGTACA 0.328 3 11 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101680199 101680199 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:101680199G>C uc001tia.1 + 5 583 c.427G>C c.(427-429)GAG>CAG p.E143Q UTP20_uc009ztz.1_Missense_Mutation_p.E143Q NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 143 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TCAGGACACAGAGTTGTTAGA 0.433 6 113 --- --- --- --- PASS IGF1 3479 broad.mit.edu 37 12 102811758 102811758 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:102811758C>G uc001tjp.3 - 4 645 c.426G>C c.(424-426)AAG>AAC p.K142N IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Missense_Mutation_p.K142N|IGF1_uc001tjo.2_Intron NM_001111285 NP_001104755 P05019 IGF1_HUMAN insulin-like growth factor 1 isoform 3 142 anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|pancreas(1) 2 ACTTCGTGTTCTTGTTGGTAG 0.468 10 115 --- --- --- --- PASS RPH3A 22895 broad.mit.edu 37 12 113307828 113307828 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:113307828C>T uc010syl.1 + 10 1142 c.780C>T c.(778-780)TCC>TCT p.S260S RPH3A_uc001ttz.2_Silent_p.S260S|RPH3A_uc001tty.2_Silent_p.S256S|RPH3A_uc009zwe.1_Silent_p.S256S|RPH3A_uc010sym.1_Silent_p.S211S|RPH3A_uc001tua.2_Silent_p.S20S NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 260 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) CTGGAGACTCCAGCCGGAGCC 0.542 4 16 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117669887 117669887 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:117669887G>A uc001twm.1 - 22 3971 c.3285C>T c.(3283-3285)ATC>ATT p.I1095I NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1095 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGGCCTGGAAGATGGTGCAGG 0.597 5 20 --- --- --- --- PASS B3GNT4 79369 broad.mit.edu 37 12 122691663 122691663 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:122691663C>T uc001ubx.2 + 3 1083 c.865C>T c.(865-867)CGG>TGG p.R289W B3GNT4_uc001uby.2_Missense_Mutation_p.R264W NM_030765 NP_110392 Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal 289 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) AGCCACAGTGCGGCGCCTCCA 0.557 8 35 --- --- --- --- PASS ATP6V0A2 23545 broad.mit.edu 37 12 124220151 124220151 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:124220151C>G uc001ufr.2 + 8 1053 c.805C>G c.(805-807)CGC>GGC p.R269G ATP6V0A2_uc001ufq.1_Missense_Mutation_p.R269G NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 269 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) GCTGAACACCCGCATCCAGGA 0.493 5 12 --- --- --- --- PASS ANKLE2 23141 broad.mit.edu 37 12 133312095 133312095 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr12:133312095C>T uc001ukx.2 - 9 1664 c.1597G>A c.(1597-1599)GAA>AAA p.E533K ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Missense_Mutation_p.E471K NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 533 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CGAAAATCTTCTGCCTATGAA 0.527 11 39 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111134895 111134895 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr13:111134895C>A uc001vqx.2 + 32 3080 c.2791C>A c.(2791-2793)CAA>AAA p.Q931K NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 931 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) GGATGGTTTCCAAGGCATGCC 0.522 5 140 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20216239 20216239 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:20216239C>T uc010tkt.1 + 1 653 c.653C>T c.(652-654)TCT>TTT p.S218F NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTACTATTCTCTTATGCTATC 0.507 11 63 --- --- --- --- PASS FLJ10357 55701 broad.mit.edu 37 14 21548879 21548879 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:21548879G>T uc001vzp.2 + 12 2463 c.2434G>T c.(2434-2436)GAC>TAC p.D812Y FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.D98Y NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 812 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) TATGCCTGGGGACACCTTGTC 0.647 10 34 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23889431 23889431 + Nonsense_Mutation SNP C A A rs141735183 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:23889431C>A uc001wjx.2 - 27 3455 c.3349G>T c.(3349-3351)GAG>TAG p.E1117* MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1117 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) tcctccagctcctcGATGCGT 0.562 9 22 --- --- --- --- PASS FOXG1 2290 broad.mit.edu 37 14 29237714 29237714 + Missense_Mutation SNP T G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:29237714T>G uc001wqe.2 + 1 1428 c.1229T>G c.(1228-1230)CTC>CGC p.L410R NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 410 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GTCAACCTGCTCGCGGGCCAG 0.687 4 27 --- --- --- --- PASS EGLN3 112399 broad.mit.edu 37 14 34400377 34400377 + Silent SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:34400377G>C uc001wsa.3 - 2 728 c.402C>G c.(400-402)CGC>CGG p.R134R EGLN3_uc001wry.2_Silent_p.R40R|EGLN3_uc001wrz.2_Silent_p.R134R NM_022073 NP_071356 Q9H6Z9 EGLN3_HUMAN egl nine homolog 3 134 Fe2OG dioxygenase. apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding 0 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) TGTCCACGTGGCGAACATAAC 0.473 14 43 --- --- --- --- PASS FOXA1 3169 broad.mit.edu 37 14 38061517 38061517 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:38061517C>T uc001wuf.2 - 2 784 c.472G>A c.(472-474)GAC>AAC p.D158N FOXA1_uc010tpz.1_Missense_Mutation_p.D125N NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 158 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GTCTTGGCGTcgccgccgccg 0.557 13 31 --- --- --- --- PASS RPL10L 140801 broad.mit.edu 37 14 47120615 47120615 + Missense_Mutation SNP C G G rs11557561 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:47120615C>G uc001wwg.2 - 1 414 c.325G>C c.(325-327)GAC>CAC p.D109H NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 109 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 TGGAGCCTGTCAGCCCCAGCA 0.547 9 45 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72190544 72190544 + Silent SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:72190544G>C uc001xms.2 + 16 4800 c.4452G>C c.(4450-4452)CTG>CTC p.L1484L SIPA1L1_uc001xmt.2_Silent_p.L1463L|SIPA1L1_uc001xmu.2_Silent_p.L1463L|SIPA1L1_uc001xmv.2_Silent_p.L1484L|SIPA1L1_uc010ttm.1_Silent_p.L938L|SIPA1L1_uc001xmw.2_Silent_p.L249L NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1484 Ser-rich. 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) GCAAGTACCTGATTGGATGGA 0.428 10 131 --- --- --- --- PASS ANGEL1 23357 broad.mit.edu 37 14 77272759 77272759 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:77272759C>T uc001xsv.2 - 5 1493 c.1380G>A c.(1378-1380)AAG>AAA p.K460K ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 460 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CCCATTTCACCTTCCAGGCTG 0.532 5 37 --- --- --- --- PASS CPSF2 53981 broad.mit.edu 37 14 92622903 92622903 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:92622903A>G uc001yah.1 + 12 1760 c.1523A>G c.(1522-1524)GAT>GGT p.D508G NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 508 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) ACAAATGGAGATGAACCTATG 0.323 15 74 --- --- --- --- PASS C14orf177 283598 broad.mit.edu 37 14 99183521 99183521 + Missense_Mutation SNP A G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:99183521A>G uc001yfz.1 + 4 707 c.288A>G c.(286-288)ATA>ATG p.I96M NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 96 0 Melanoma(154;0.128) ATCACCAAATAATGTCTGCTT 0.423 17 68 --- --- --- --- PASS ASPG 374569 broad.mit.edu 37 14 104559906 104559906 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:104559906C>T uc001yoq.1 + 3 330 c.270C>T c.(268-270)ATC>ATT p.I90I ASPG_uc001yoo.1_Silent_p.I118I|ASPG_uc001yop.1_Silent_p.I90I|ASPG_uc001yor.1_Silent_p.I90I NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN 60 kDa lysophospholipase 90 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity 0 ACATGACCATCGCTGAGTGGG 0.408 20 79 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105411849 105411849 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:105411849G>A uc010axc.1 - 7 10059 c.9939C>T c.(9937-9939)TTC>TTT p.F3313F AHNAK2_uc001ypx.2_Silent_p.F3213F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3313 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACGGCATCTTGAATTTGGGCA 0.622 14 352 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106209343 106209343 + RNA SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr14:106209343T>A uc010tyt.1 - 3625 c.58380A>T uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_5'UTR|uc001ysf.2_5'UTR|uc001ysg.1_RNA Parts of antibodies, mostly variable regions. 0 CCAGGGCTGCTGTGCCCCCAG 0.672 5 19 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22382701 22382701 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr15:22382701G>T uc001yuc.1 + 7 1210 c.229G>T c.(229-231)GTG>TTG p.V77L LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.V77L NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCCTTCATTGTGGCTCCCAG 0.493 18 190 --- --- --- --- PASS INO80 54617 broad.mit.edu 37 15 41280040 41280040 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr15:41280040G>A uc001zni.2 - 30 3916 c.3703C>T c.(3703-3705)CTG>TTG p.L1235L INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1235 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 GCTCTTTGCAGAATGCGTTCT 0.502 12 214 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 42042356 42042356 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr15:42042356G>T uc010ucy.1 + 17 6732 c.6551G>T c.(6550-6552)AGG>ATG p.R2184M MGA_uc010ucz.1_Missense_Mutation_p.R1975M|MGA_uc010uda.1_Missense_Mutation_p.R800M|MGA_uc001zoi.2_Missense_Mutation_p.R398M NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2145 Basic motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CCCTTAACCAGGAAATGTGTT 0.428 22 75 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54685268 54685268 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr15:54685268G>C uc002ack.2 + 16 4736 c.4736G>C c.(4735-4737)CGT>CCT p.R1579P UNC13C_uc002acl.2_Missense_Mutation_p.R409P NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1579 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GATATTCCTCGTGAAGATCAG 0.388 12 54 --- --- --- --- PASS SIN3A 25942 broad.mit.edu 37 15 75684849 75684849 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr15:75684849G>C uc002bai.2 - 15 2844 c.2585C>G c.(2584-2586)CCT>CGT p.P862R SIN3A_uc002baj.2_Missense_Mutation_p.P862R|SIN3A_uc010uml.1_Missense_Mutation_p.P862R NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 862 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 CTTGGACTTAGGGGGACTGCC 0.428 5 87 --- --- --- --- PASS ST20 400410 broad.mit.edu 37 15 80191279 80191279 + Nonsense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr15:80191279G>C uc002bez.3 - 3 914 c.234C>G c.(232-234)TAC>TAG p.Y78* ST20_uc002bfa.3_Nonsense_Mutation_p.Y78*|MTHFS_uc002bex.3_5'Flank NM_001100879 NP_001094349 Q9HBF5 ST20_HUMAN cervical cancer suppressor-1 78 0 TTATTTAAAAGTAGAAGTATG 0.338 3 62 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100341295 100341295 + RNA SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr15:100341295C>A uc010urx.1 - 3 c.352G>T C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_RNA NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 AGGAGTCCACCAGGTTCTGGG 0.547 4 50 --- --- --- --- PASS E4F1 1877 broad.mit.edu 37 16 2282275 2282275 + Silent SNP C G G rs149258624 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:2282275C>G uc002cpm.2 + 4 567 c.519C>G c.(517-519)CTC>CTG p.L173L E4F1_uc010bsi.2_Silent_p.L173L|E4F1_uc010bsj.2_Silent_p.L173L NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 173 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GGCTGGGGCTCGCAGGGGAGG 0.667 9 28 --- --- --- --- PASS ZNF434 54925 broad.mit.edu 37 16 3434852 3434852 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:3434852G>C uc002cuz.2 - 5 1007 c.205C>G c.(205-207)CAG>GAG p.Q69E ZNF434_uc002cux.3_Missense_Mutation_p.Q280E|ZNF434_uc010uwx.1_5'UTR|ZNF434_uc002cuy.3_5'UTR|ZNF434_uc010uwy.1_5'UTR|ZNF434_uc010uwz.1_Missense_Mutation_p.Q280E|ZNF434_uc010uxa.1_Missense_Mutation_p.Q69E NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 69 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTGTTCTGCTGACAGGTCTGG 0.527 4 112 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9862740 9862740 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:9862740C>G uc002czo.3 - 12 3111 c.2563G>C c.(2563-2565)GAC>CAC p.D855H GRIN2A_uc010uym.1_Missense_Mutation_p.D855H|GRIN2A_uc010uyn.1_Missense_Mutation_p.D698H|GRIN2A_uc002czr.3_Missense_Mutation_p.D855H NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 855 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) CCAGGCCGGTCGGAGCACACG 0.567 15 79 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20422839 20422839 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:20422839G>A uc002dhe.2 + 2 180 c.33G>A c.(31-33)CAG>CAA p.Q11Q ACSM5_uc002dhd.1_Silent_p.Q11Q NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 11 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TAGTCCTCCAGGCACTGAGGA 0.557 7 21 --- --- --- --- PASS TBX6 6911 broad.mit.edu 37 16 30100411 30100411 + Nonsense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:30100411C>T uc010veh.1 - 4 534 c.474G>A c.(472-474)TGG>TGA p.W158* uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Nonsense_Mutation_p.W158* NM_004608 NP_004599 O95947 TBX6_HUMAN T-box 6 158 T-box. anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CGCTGGGCTCCCAGCGCCGGC 0.647 4 27 --- --- --- --- PASS TBX6 6911 broad.mit.edu 37 16 30102165 30102165 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:30102165C>T uc010veh.1 - 3 327 c.267G>A c.(265-267)CCG>CCA p.P89P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Silent_p.P89P NM_004608 NP_004599 O95947 TBX6_HUMAN T-box 6 89 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GGCTGACCCCCGGGAGGGAAT 0.662 5 17 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56906359 56906359 + Missense_Mutation SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:56906359T>A uc010ccm.2 + 7 978 c.949T>A c.(949-951)TTC>ATC p.F317I SLC12A3_uc002ekd.3_Missense_Mutation_p.F317I|SLC12A3_uc010ccn.2_Missense_Mutation_p.F316I NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 317 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CTCCAAAGGCTTCTTCAGCTA 0.567 6 32 --- --- --- --- PASS MIR328 442901 broad.mit.edu 37 16 67236282 67236282 + RNA SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:67236282C>G hsa-mir-328|MI0000804 - c.17C>G ELMO3_uc002esa.2_Intron|ELMO3_uc002esb.2_Intron|ELMO3_uc002esc.2_Intron|uc010vjf.1_RNA 0 CTGAGCCCCTCCTGCCCCCCC 0.632 4 59 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72821790 72821790 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:72821790T>C uc002fck.2 - 10 11058 c.10385A>G c.(10384-10386)CAG>CGG p.Q3462R ZFHX3_uc002fcl.2_Missense_Mutation_p.Q2548R NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3462 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) CAACTTGTACTGCACCTTTGG 0.597 13 50 --- --- --- --- PASS GLG1 2734 broad.mit.edu 37 16 74497334 74497334 + Missense_Mutation SNP A C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:74497334A>C uc002fcy.3 - 20 2761 c.2711T>G c.(2710-2712)TTG>TGG p.L904W GLG1_uc002fcx.2_Missense_Mutation_p.L904W|GLG1_uc002fcw.3_Missense_Mutation_p.L893W|GLG1_uc002fcz.3_Missense_Mutation_p.L321W NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 904 Cys-rich GLG1 13.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 ATTTTGCTTCAAGCACTGCAA 0.413 12 33 --- --- --- --- PASS DEF8 54849 broad.mit.edu 37 16 90015915 90015915 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr16:90015915G>A uc002fpn.1 + 2 131 c.42G>A c.(40-42)GCG>GCA p.A14A DEF8_uc002fpl.2_5'UTR|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_5'UTR|DEF8_uc002fpp.1_5'UTR|DEF8_uc010vpq.1_5'UTR|DEF8_uc010vpr.1_5'UTR NM_207514 NP_997397 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 isoform 1 14 intracellular signal transduction zinc ion binding central_nervous_system(1) 1 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CCTGGCAGGCGATGCAGGTAT 0.662 10 44 --- --- --- --- PASS AMAC1L3 643664 broad.mit.edu 37 17 7386197 7386197 + Silent SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr17:7386197T>C uc010cmj.1 + 2 1009 c.894T>C c.(892-894)TAT>TAC p.Y298Y ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank NM_001102614 NP_001096084 P0C7Q6 AMCL3_HUMAN acyl-malonyl condensing enzyme 1-like 3 298 DUF6 2.|Helical; (Potential). integral to membrane 0 Prostate(122;0.173) TACTGCAGTATTATATGCTCC 0.572 7 89 --- --- --- --- PASS UBB 7314 broad.mit.edu 37 17 16285361 16285361 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr17:16285361G>T uc002gpx.2 + 2 278 c.140G>T c.(139-141)GGC>GTC p.G47V UBB_uc010vwe.1_Missense_Mutation_p.G47V NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 47 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) ATCTTTGCAGGCAAGCAGCTG 0.547 11 72 --- --- --- --- PASS FLJ40504 284085 broad.mit.edu 37 17 26603835 26603835 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr17:26603835C>T uc002has.3 - 3 736 c.640G>A c.(640-642)GAG>AAG p.E214K NM_173624 NP_775895 SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18; 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) ATGTCACTCTCCACAGACTGG 0.517 12 29 --- --- --- --- PASS COASY 80347 broad.mit.edu 37 17 40717709 40717709 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr17:40717709C>T uc002hzz.2 + 9 1675 c.1518C>T c.(1516-1518)CTC>CTT p.L506L COASY_uc010cyj.2_Silent_p.L535L|COASY_uc002iab.2_Silent_p.L211L|COASY_uc002iad.2_Silent_p.L506L|COASY_uc002iac.2_Silent_p.L506L|COASY_uc002iae.2_Silent_p.L301L|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 506 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) GGGATGGCCTCAGTGAAGCCG 0.577 4 29 --- --- --- --- PASS PPP1R9B 84687 broad.mit.edu 37 17 48212999 48212999 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr17:48212999C>T uc002iqh.3 - 11 2322 c.2319G>A c.(2317-2319)CTG>CTA p.L773L NM_032595 NP_115984 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 771 Potential.|Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity 0 TCTCCTTTTTCAGGAACTCGA 0.602 4 12 --- --- --- --- PASS RSAD1 55316 broad.mit.edu 37 17 48559474 48559474 + Missense_Mutation SNP G A A rs138384713 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr17:48559474G>A uc002iqw.1 + 4 553 c.497G>A c.(496-498)CGG>CAG p.R166Q RSAD1_uc010wmq.1_RNA NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 166 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) ACTGAGCTCCGGCTGTTGGGA 0.612 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 83 --- --- --- --- PASS CSNK1D 1453 broad.mit.edu 37 17 80211007 80211007 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr17:80211007G>T uc002kej.2 - 4 766 c.450C>A c.(448-450)TTC>TTA p.F150L SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.F150L|CSNK1D_uc002kei.2_Missense_Mutation_p.F150L|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_Missense_Mutation_p.F15L|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 P48730 KC1D_HUMAN casein kinase 1, delta isoform 1 150 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2) 2 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) TGGCCAGCCCGAAGTCGATGA 0.552 4 88 --- --- --- --- PASS TMEM200C 645369 broad.mit.edu 37 18 5891854 5891854 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr18:5891854G>A uc002kmx.1 - 1 250 c.209C>T c.(208-210)GCG>GTG p.A70V NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 70 Helical; (Potential). integral to membrane 0 GCCCACCACCGCCATGGCTAT 0.662 11 12 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 7014032 7014032 + Missense_Mutation SNP C A A rs138476816 TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr18:7014032C>A uc002knm.2 - 23 3239 c.3145G>T c.(3145-3147)GTG>TTG p.V1049L LAMA1_uc010wzj.1_Missense_Mutation_p.V525L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1049 Laminin EGF-like 12. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCGACCCCACGAGACTGCAA 0.483 5 14 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21494522 21494522 + Missense_Mutation SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr18:21494522A>T uc002kuq.2 + 57 7564 c.7478A>T c.(7477-7479)CAG>CTG p.Q2493L LAMA3_uc002kur.2_Missense_Mutation_p.Q2437L|LAMA3_uc002kus.3_Missense_Mutation_p.Q884L|LAMA3_uc002kut.3_Missense_Mutation_p.Q828L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2493 Laminin G-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGAAATTTCAGAGGTACAAG 0.458 6 26 --- --- --- --- PASS OSBPL1A 114876 broad.mit.edu 37 18 21921529 21921529 + Missense_Mutation SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr18:21921529T>A uc002kve.2 - 5 550 c.376A>T c.(376-378)ATC>TTC p.I126F NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 126 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) ATGCTTCTGATTTCTTCAGCA 0.343 6 43 --- --- --- --- PASS MEX3C 51320 broad.mit.edu 37 18 48703809 48703809 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr18:48703809C>T uc002lfc.3 - 2 892 c.892G>A c.(892-894)GAG>AAG p.E298K NM_016626 NP_057710 Q5U5Q3 MEX3C_HUMAN ring finger and KH domain containing 2 298 cytoplasm|nucleus RNA binding|zinc ion binding lung(2)|ovary(1)|skin(1) 4 Colorectal(6;0.003)|all_epithelial(6;0.0473) Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15) GAGAAGTGCTCTGCAGCTGAG 0.483 4 45 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56202164 56202164 + Nonsense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr18:56202164G>C uc002lhj.3 - 5 5469 c.5255C>G c.(5254-5256)TCA>TGA p.S1752* ALPK2_uc002lhk.1_Nonsense_Mutation_p.S1083* NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1752 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 AAGAAAGGCTGAGTTCTTTCT 0.413 6 47 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76754570 76754570 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr18:76754570C>G uc002lmt.2 + 2 2579 c.2579C>G c.(2578-2580)ACC>AGC p.T860S SALL3_uc010dra.2_Missense_Mutation_p.T467S NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 860 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CAGCAGCTGACCGGCCTCAAG 0.682 9 17 --- --- --- --- PASS ELAVL1 1994 broad.mit.edu 37 19 8032655 8032655 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:8032655C>A uc002mjb.2 - 5 617 c.450G>T c.(448-450)GCG>GCT p.A150A NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 150 RRM 2. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 ACCGGATAAACGCAACCCCTC 0.453 5 45 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8181625 8181625 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:8181625C>T uc002mjf.2 - 28 3666 c.3645G>A c.(3643-3645)ATG>ATA p.M1215I NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1215 EGF-like 17. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GACCCCCTGGCATGTTGGTGC 0.632 9 37 --- --- --- --- PASS MARCH2 51257 broad.mit.edu 37 19 8491686 8491686 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:8491686G>A uc002mjv.2 + 4 811 c.370G>A c.(370-372)GAG>AAG p.E124K MARCH2_uc002mjw.2_Missense_Mutation_p.E124K|MARCH2_uc002mjx.2_Missense_Mutation_p.E124K NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2 124 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 ACCCCTCACAGAGGTACCCTT 0.592 6 18 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072126 9072126 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:9072126G>T uc002mkp.2 - 3 15524 c.15320C>A c.(15319-15321)ACT>AAT p.T5107N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5109 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCTTTAGAAGTGGCCAGTAT 0.423 11 86 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9087486 9087486 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:9087486C>A uc002mkp.2 - 1 4533 c.4329G>T c.(4327-4329)CTG>CTT p.L1443L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1443 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGCAAGGACCAGGGGTTCCC 0.512 5 96 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9088466 9088466 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:9088466C>G uc002mkp.2 - 1 3553 c.3349G>C c.(3349-3351)GAA>CAA p.E1117Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1117 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATTGTAATTTCTCTGGATGTT 0.468 5 70 --- --- --- --- PASS ZNF559 84527 broad.mit.edu 37 19 9453519 9453519 + Silent SNP A C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:9453519A>C uc002mlg.2 + 7 2039 c.1392A>C c.(1390-1392)CCA>CCC p.P464P ZNF559_uc002mlf.2_Silent_p.P233P|ZNF559_uc010dwl.1_Silent_p.P233P|ZNF559_uc010xkn.1_Silent_p.P456P|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.P528P|ZNF559_uc010dwk.1_Silent_p.P233P|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGGAGAGGCCATATAAATGTC 0.443 11 32 --- --- --- --- PASS FBXW9 84261 broad.mit.edu 37 19 12807343 12807343 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:12807343G>C uc010dyx.2 - 1 53 c.53C>G c.(52-54)TCG>TGG p.S18W FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.S18W|FBXW9_uc002mun.1_5'UTR NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 18 protein binding ovary(1) 1 CTCTGGGTCCGAGTCATCGTC 0.677 3 38 --- --- --- --- PASS KCNN1 3780 broad.mit.edu 37 19 18092701 18092701 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:18092701G>T uc002nht.2 + 5 992 c.682G>T c.(682-684)GTG>TTG p.V228L KCNN1_uc010xqa.1_Missense_Mutation_p.V228L NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 228 Helical; Name=Segment S4; (Potential). synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 CGACGTGGACGTGCTGCTGTC 0.672 4 15 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31038893 31038893 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:31038893G>A uc002nsu.1 + 4 2505 c.2367G>A c.(2365-2367)ACG>ACA p.T789T ZNF536_uc010edd.1_Silent_p.T789T NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 789 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) ATGCCGGCACGCAGTCAGCAT 0.507 6 58 --- --- --- --- PASS DPY19L3 147991 broad.mit.edu 37 19 32971362 32971362 + Missense_Mutation SNP T A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:32971362T>A uc002ntg.2 + 18 2064 c.1888T>A c.(1888-1890)TTC>ATC p.F630I DPY19L3_uc002nth.1_Missense_Mutation_p.F630I|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.F52I NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 630 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) CCTAAGGTCCTTCGGCACTGA 0.532 8 19 --- --- --- --- PASS TMEM147 10430 broad.mit.edu 37 19 36037609 36037609 + Silent SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:36037609G>C uc002oaj.1 + 4 340 c.243G>C c.(241-243)CTG>CTC p.L81L uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.L32L|TMEM147_uc002oak.1_5'UTR NM_032635 NP_116024 Q9BVK8 TM147_HUMAN transmembrane protein 147 81 endoplasmic reticulum membrane|integral to membrane protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGGCAGACCTGATAGGTCTAA 0.562 12 44 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36210823 36210823 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:36210823G>T uc010eei.2 + 3 574 c.574G>T c.(574-576)GCA>TCA p.A192S NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 192 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GATGGTGCAGGCACTGACTGA 0.701 4 33 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40363021 40363021 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:40363021C>A uc002omp.3 - 32 15057 c.15049G>T c.(15049-15051)GCG>TCG p.A5017S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5017 VWFD 12. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GAGCCGGGCGCCCGCCATGCA 0.647 6 6 --- --- --- --- PASS PSG6 5675 broad.mit.edu 37 19 43585368 43585368 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:43585368G>A uc002ovi.2 - 2 188 c.95C>T c.(94-96)ACC>ATC p.T32I PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.T32I|PSG2_uc002ovq.3_Missense_Mutation_p.T32I|PSG2_uc010eiq.1_Missense_Mutation_p.T32I|PSG2_uc002ovs.3_Missense_Mutation_p.T32I|PSG2_uc002ovt.3_Missense_Mutation_p.T32I Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 32 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) TTGGGCAGTGGTGGGCAGGTT 0.493 13 111 --- --- --- --- PASS SIGLEC6 946 broad.mit.edu 37 19 52034461 52034461 + Nonsense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:52034461C>T uc002pwy.2 - 2 542 c.380G>A c.(379-381)TGG>TAG p.W127* SIGLEC6_uc002pwz.2_Nonsense_Mutation_p.W127*|SIGLEC6_uc002pxa.2_Nonsense_Mutation_p.W127*|SIGLEC6_uc010ydb.1_Nonsense_Mutation_p.W80*|SIGLEC6_uc010ydc.1_Nonsense_Mutation_p.W116*|SIGLEC6_uc010eoz.1_Nonsense_Mutation_p.W116*|SIGLEC6_uc010epb.1_Nonsense_Mutation_p.W80*|SIGLEC6_uc010epa.1_Nonsense_Mutation_p.W116* NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 127 Extracellular (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTATTTCATCCATTTGGACTT 0.537 14 74 --- --- --- --- PASS ZNF761 388561 broad.mit.edu 37 19 53959080 53959080 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:53959080G>C uc010eqp.2 + 7 1777 c.1319G>C c.(1318-1320)TGT>TCT p.C440S ZNF761_uc010ydy.1_Missense_Mutation_p.C386S|ZNF761_uc002qbt.1_Missense_Mutation_p.C386S NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 440 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) GCTTACAAGTGTAATGAGTGT 0.378 23 87 --- --- --- --- PASS ZNF813 126017 broad.mit.edu 37 19 53994939 53994939 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:53994939C>G uc002qbu.2 + 4 1581 c.1453C>G c.(1453-1455)CAT>GAT p.H485D ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 485 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CCTCGTAATTCATACGGCAAT 0.398 7 41 --- --- --- --- PASS CNOT3 4849 broad.mit.edu 37 19 54657541 54657541 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:54657541C>G uc002qdj.1 + 17 2438 c.2127C>G c.(2125-2127)CAC>CAG p.H709Q CNOT3_uc010yel.1_3'UTR|CNOT3_uc002qdi.2_3'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.H709Q|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.H164Q NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 709 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCCAGAGGCACGAGGAGCCCA 0.602 4 77 --- --- --- --- PASS ZFP28 140612 broad.mit.edu 37 19 57065985 57065985 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:57065985C>T uc002qnj.2 + 8 1902 c.1831C>T c.(1831-1833)CAT>TAT p.H611Y uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 611 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) TTTAAGGATTCATACTGGGGA 0.428 5 94 --- --- --- --- PASS ZIM2 23619 broad.mit.edu 37 19 57293432 57293432 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:57293432C>G uc002qnr.2 - 9 917 c.535G>C c.(535-537)GAG>CAG p.E179Q uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnq.2_Missense_Mutation_p.E179Q|ZIM2_uc010etp.2_Missense_Mutation_p.E179Q|ZIM2_uc010ygs.1_Missense_Mutation_p.E179Q NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 179 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGCACATCCTCGAAGGTCACC 0.498 7 159 --- --- --- --- PASS VN1R1 57191 broad.mit.edu 37 19 57967431 57967431 + Missense_Mutation SNP G T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr19:57967431G>T uc002qos.1 - 1 424 c.424C>A c.(424-426)CTC>ATC p.L142I ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 142 Helical; Name=3; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) AATCCATTGAGAAGGCAGATG 0.428 9 48 --- --- --- --- PASS TMC2 117532 broad.mit.edu 37 20 2591070 2591070 + Missense_Mutation SNP G C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr20:2591070G>C uc002wgf.1 + 12 1434 c.1419G>C c.(1417-1419)GAG>GAC p.E473D TMC2_uc002wgg.1_Missense_Mutation_p.E457D|TMC2_uc010zpw.1_Missense_Mutation_p.E305D|TMC2_uc010zpx.1_Missense_Mutation_p.E304D NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 473 Extracellular (Potential). integral to membrane ovary(3) 3 CTCAGGTAGAGATCGTGATGT 0.512 4 101 --- --- --- --- PASS CDH26 60437 broad.mit.edu 37 20 58545157 58545157 + Silent SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr20:58545157A>T uc002ybe.2 + 3 447 c.147A>T c.(145-147)CTA>CTT p.L49L CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 49 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) ACCAGCCTCTACGGCGATCCA 0.502 22 60 --- --- --- --- PASS NRIP1 8204 broad.mit.edu 37 21 16337633 16337633 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr21:16337633T>C uc002yjx.2 - 4 3479 c.2881A>G c.(2881-2883)AAA>GAA p.K961E NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 961 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CCTTTCTTTTTACTGTCAGCC 0.418 12 43 --- --- --- --- PASS KRTAP27-1 643812 broad.mit.edu 37 21 31709628 31709628 + Missense_Mutation SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr21:31709628C>G uc002ynx.1 - 1 385 c.359G>C c.(358-360)AGC>ACC p.S120T NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 120 intermediate filament ovary(2) 2 CTGCTGAGTGCTTTCTGATTG 0.493 9 129 --- --- --- --- PASS KCNJ6 3763 broad.mit.edu 37 21 39086590 39086590 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr21:39086590C>A uc011aej.1 - 3 923 c.870G>T c.(868-870)TGG>TGT p.W290C KCNJ6_uc002ywo.2_Missense_Mutation_p.W290C NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 290 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) TGGAGATCTCCCAGAAAGGAC 0.483 5 99 --- --- --- --- PASS POFUT2 23275 broad.mit.edu 37 21 46702293 46702293 + Silent SNP C G G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr21:46702293C>G uc002zhc.2 - 4 634 c.609G>C c.(607-609)GCG>GCC p.A203A POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.A203A|POFUT2_uc011afp.1_Silent_p.A203A NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 isoform C 203 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity 0 Colorectal(79;0.243) GCAGCAGGGGCGCCACGATGG 0.632 8 17 --- --- --- --- PASS SFI1 9814 broad.mit.edu 37 22 31927072 31927072 + Missense_Mutation SNP T C C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr22:31927072T>C uc003ale.2 + 4 688 c.295T>C c.(295-297)TGG>CGG p.W99R SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Missense_Mutation_p.W99R|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 99 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 CTTATATTTATGGATTCGAAT 0.338 15 35 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45768156 45768156 + Missense_Mutation SNP A T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr22:45768156A>T uc003bgc.2 - 13 2127 c.2075T>A c.(2074-2076)CTC>CAC p.L692H SMC1B_uc003bgd.2_Missense_Mutation_p.L692H|SMC1B_uc003bge.1_Missense_Mutation_p.L475H NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 692 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTCTTTGCGGAGTGTCTTCAT 0.318 6 17 --- --- --- --- PASS BMX 660 broad.mit.edu 37 X 15565027 15565027 + Missense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:15565027C>T uc004cww.2 + 17 1966 c.1778C>T c.(1777-1779)TCA>TTA p.S593L BMX_uc004cwx.3_Missense_Mutation_p.S593L|BMX_uc004cwy.3_Missense_Mutation_p.S593L NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 593 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) AGCAGCAAGTCAGACGTATGG 0.448 10 45 --- --- --- --- PASS ZFX 7543 broad.mit.edu 37 X 24197618 24197618 + Nonsense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:24197618C>A uc004dbf.2 + 4 635 c.377C>A c.(376-378)TCA>TAA p.S126* ZFX_uc004dbd.1_Nonsense_Mutation_p.S126*|ZFX_uc010nfx.1_Intron|ZFX_uc004dbe.2_Nonsense_Mutation_p.S126*|ZFX_uc011mjv.1_Nonsense_Mutation_p.S165*|ZFX_uc010nfy.1_Nonsense_Mutation_p.S126* NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 ACTTCAGCCTCAATGTCTATG 0.348 15 88 --- --- --- --- PASS FTSJ1 24140 broad.mit.edu 37 X 48340063 48340063 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:48340063C>T uc004djo.1 + 9 938 c.615C>T c.(613-615)TTC>TTT p.F205F FTSJ1_uc004djl.2_Silent_p.F205F|FTSJ1_uc004djm.2_Silent_p.F205F|FTSJ1_uc004djn.1_Silent_p.F205F|FTSJ1_uc004djp.1_Silent_p.F205F|FTSJ1_uc011mlw.1_Silent_p.F68F NM_012280 NP_036412 Q9UET6 RRMJ1_HUMAN FtsJ homolog 1 isoform a 205 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding 0 CCGAGGGCTTCATCCCGGACC 0.622 6 4 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54957228 54957228 + Silent SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:54957228C>T uc004dtq.2 + 12 4178 c.4071C>T c.(4069-4071)TTC>TTT p.F1357F TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.F888F|TRO_uc004dtw.2_Silent_p.F960F|TRO_uc004dtx.2_Silent_p.F740F NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1357 55; approximate.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GCACGGGCTTCAGTAGTGGAC 0.567 18 24 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65417698 65417698 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:65417698G>A uc011moz.1 + 10 1744 c.1684G>A c.(1684-1686)GTG>ATG p.V562M HEPH_uc004dwn.2_Missense_Mutation_p.V562M|HEPH_uc004dwo.2_Missense_Mutation_p.V292M|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.V562M NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 559 Extracellular (Potential).|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CCCGCTGCTGGTGTGCAGGGC 0.567 6 4 --- --- --- --- PASS KIF4A 24137 broad.mit.edu 37 X 69561758 69561758 + Nonsense_Mutation SNP C T T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:69561758C>T uc004dyg.2 + 11 1370 c.1243C>T c.(1243-1245)CAG>TAG p.Q415* KIF4A_uc010nkw.2_Nonsense_Mutation_p.Q415*|KIF4A_uc004dyf.1_Nonsense_Mutation_p.Q415* NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 415 Potential. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 TCAGACAGCCCAGATGTTGGA 0.418 5 56 --- --- --- --- PASS ZCCHC13 389874 broad.mit.edu 37 X 73524496 73524496 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:73524496G>A uc004ebs.3 + 1 472 c.395G>A c.(394-396)CGA>CAA p.R132Q NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 132 CCHC-type 6. nucleic acid binding|zinc ion binding 0 AAGTGTTACCGATGCGGCGAG 0.552 13 16 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79286003 79286003 + Missense_Mutation SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:79286003G>A uc010nmg.1 + 9 1090 c.956G>A c.(955-957)AGC>AAC p.S319N TBX22_uc004edi.1_Missense_Mutation_p.S199N|TBX22_uc004edj.1_Missense_Mutation_p.S319N NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 319 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 ACAGGTGGAAGCAGTGGCTCA 0.423 9 22 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128709224 128709224 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:128709224G>A uc004euq.2 + 16 1875 c.1710G>A c.(1708-1710)AGG>AGA p.R570R OCRL_uc004eur.2_Silent_p.R570R NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 570 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 TCAGCAGGAGGGAGGTGAGCA 0.403 12 11 --- --- --- --- PASS ELF4 2000 broad.mit.edu 37 X 129203604 129203604 + Silent SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:129203604C>A uc004evd.3 - 8 1243 c.858G>T c.(856-858)CTG>CTT p.L286L ELF4_uc004eve.3_Silent_p.L286L NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 286 ETS. natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ACTGGTACACCAGCCTCTGCC 0.577 T ERG AML 4 31 --- --- --- --- PASS ENOX2 10495 broad.mit.edu 37 X 129790626 129790626 + Missense_Mutation SNP C A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:129790626C>A uc004evw.2 - 11 1563 c.1145G>T c.(1144-1146)CGA>CTA p.R382L ENOX2_uc004evx.2_Missense_Mutation_p.R353L|ENOX2_uc004evy.2_Missense_Mutation_p.R353L|ENOX2_uc004evv.2_Missense_Mutation_p.R209L NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 382 Potential. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 TTCTTCTTCTCGCCTGATTCC 0.313 3 40 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140996085 140996085 + Silent SNP G A A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:140996085G>A uc004fbt.2 + 4 3181 c.2895G>A c.(2893-2895)CTG>CTA p.L965L MAGEC1_uc010nsl.1_Silent_p.L32L NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 965 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCATTTCCCTGAGAGAAGTGG 0.498 HNSCC(15;0.026) 7 81 --- --- --- --- PASS FOSL2 2355 broad.mit.edu 37 2 28634924 28634928 + Frame_Shift_Del DEL AGCGC - - rs145499484 by1000genomes TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr2:28634924_28634928delAGCGC uc002rma.2 + 4 1399_1403 c.590_594delAGCGC c.(589-594)GAGCGCfs p.E197fs FOSL2_uc010ymi.1_Frame_Shift_Del_p.E158fs NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 197_198 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) AGCCCCGAGGAGCGCCGATCGCCCC 0.639 33 16 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37036542 37036542 + Frame_Shift_Del DEL T - - TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr5:37036542delT uc003jkl.3 + 33 6423 c.5924delT c.(5923-5925)GTTfs p.V1975fs NIPBL_uc003jkk.3_Frame_Shift_Del_p.V1975fs NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1975 HEAT 3. brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACTCAACTTGTTGATAACCTA 0.249 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A - - TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chr11:43283606delA uc001mxe.1 - 2 c.1330delT Homo sapiens cDNA FLJ44864 fis, clone BRALZ2013621, moderately similar to Heterogeneous nuclear ribonucleoprotein K. AAGCAAATGTAAAAAAAAAAA 0.388 4 2 --- --- --- --- DCAF12L1 139170 broad.mit.edu 37 X 125685932 125685932 + Frame_Shift_Del DEL C - - TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 58c73372-223f-400a-a2df-073a78c58b62 1c33d8c0-dd62-474a-8047-4cd4410deafe g.chrX:125685932delC uc004eul.2 - 1 911 c.660delG c.(658-660)TGGfs p.W220fs NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 220 WD 2. skin(3)|ovary(1) 4 GGTCCATCCGCCACAGCGCCA 0.652 12 8 --- --- --- ---