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 PRAMEF4 400735 broad.mit.edu 37 1 12943166 12943166 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:12943166C>T uc001aun.2 - 2 121 c.50G>A c.(49-51)CGG>CAG p.R17Q NM_001009611 NP_001009611 O60810 PRAM4_HUMAN PRAME family member 4 17 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TAGCAGGCTCCGCCCTGCAAG 0.562 151 280 --- --- --- --- PASS CYP4A22 284541 broad.mit.edu 37 1 47607784 47607784 + Nonsense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:47607784C>G uc001cqv.1 + 4 438 c.387C>G c.(385-387)TAC>TAG p.Y129* CYP4A22_uc009vyo.2_Nonsense_Mutation_p.Y129*|CYP4A22_uc009vyp.2_Nonsense_Mutation_p.Y129* NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 129 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 CCTTAGGGTACGGCTTGCTCC 0.537 13 50 --- --- --- --- PASS ZYG11B 79699 broad.mit.edu 37 1 53262037 53262037 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:53262037G>T uc001cuj.2 + 7 1603 c.1408G>T c.(1408-1410)GCT>TCT p.A470S ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.A461S|ZYG11B_uc009vzh.2_5'Flank NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 470 protein binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GATGGCAGTTGCTATCATTTC 0.428 13 63 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037416 75037416 + Silent SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:75037416T>A uc001dgg.2 - 14 4197 c.3978A>T c.(3976-3978)ACA>ACT p.T1326T NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1326 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CATTCTTTTGTGTGTTTCCTT 0.557 119 237 --- --- --- --- PASS BTBD8 284697 broad.mit.edu 37 1 92613244 92613244 + Missense_Mutation SNP G T T rs150938488 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:92613244G>T uc001doo.2 + 9 1290 c.1023G>T c.(1021-1023)TGG>TGT p.W341C BTBD8_uc010otc.1_RNA NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 341 nucleus ovary(1) 1 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) TTAACAGGTGGATTGTAAAGC 0.289 12 35 --- --- --- --- PASS CCDC76 54482 broad.mit.edu 37 1 100614189 100614189 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:100614189G>C uc001dsv.2 + 11 1278 c.1259G>C c.(1258-1260)AGT>ACT p.S420T CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.V276L NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 420 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) AGGCTTCTTAGTGTTGAAGAA 0.318 39 60 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103480073 103480073 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:103480073C>T uc001dul.2 - 13 1884 c.1566G>A c.(1564-1566)CAG>CAA p.Q522Q COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.Q534Q|COL11A1_uc001dun.2_Silent_p.Q483Q|COL11A1_uc009weh.2_Silent_p.Q406Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 522 Telopeptide. 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) TTACCCGAGCCTGCTGAAGAA 0.423 11 24 --- --- --- --- PASS PHGDH 26227 broad.mit.edu 37 1 120279815 120279815 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:120279815G>A uc001ehz.2 + 8 1098 c.871G>A c.(871-873)GCT>ACT p.A291T PHGDH_uc009whm.2_Missense_Mutation_p.A189T|PHGDH_uc001eia.2_Missense_Mutation_p.A291T|PHGDH_uc009whn.2_Missense_Mutation_p.A291T|PHGDH_uc001eib.2_Missense_Mutation_p.A257T NM_006623 NP_006614 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 291 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity ovary(1) 1 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CACCAAGGAGGCTCAGAGCCG 0.597 94 122 --- --- --- --- PASS PPIAL4G 644591 broad.mit.edu 37 1 143767794 143767794 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:143767794G>A uc001ejt.2 - 1 88 c.55C>T c.(55-57)CGC>TGC p.R19C NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 19 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 ATGGAGATGCGGCCCAAGGGC 0.493 11 662 --- --- --- --- PASS SEC22B 9554 broad.mit.edu 37 1 145109536 145109536 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:145109536G>A uc001eml.1 + 5 338 c.198G>A c.(196-198)GAG>GAA p.E66E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 66 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 ACATTATTGAGCAGGGGGTGT 0.403 23 756 --- --- --- --- PASS HIST2H3D 653604 broad.mit.edu 37 1 149785213 149785213 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:149785213G>A uc010pbl.1 - 1 24 c.24C>T c.(22-24)GCC>GCT p.A8A HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 8 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 TCGACTTGCGGGCAGTCTGCT 0.602 26 62 --- --- --- --- PASS FAM63A 55793 broad.mit.edu 37 1 150971905 150971905 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:150971905C>T uc001ewf.2 - 8 2605 c.921G>A c.(919-921)AAG>AAA p.K307K FAM63A_uc001ewc.2_Silent_p.K165K|FAM63A_uc010pcm.1_Silent_p.K212K|FAM63A_uc001ewd.2_Silent_p.K165K|FAM63A_uc001ewe.2_Silent_p.K141K|FAM63A_uc010pcn.1_Silent_p.K355K|FAM63A_uc001ewg.2_Silent_p.K307K NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 307 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTCACCCTCCTTAGCAGCTG 0.557 243 393 --- --- --- --- PASS CRTC2 200186 broad.mit.edu 37 1 153920731 153920731 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:153920731C>G uc010ped.1 - 14 2006 c.1936G>C c.(1936-1938)GCT>CCT p.A646P DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.A182P NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 646 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TCCAATCCAGCTGCTGACACC 0.597 64 356 --- --- --- --- PASS NTRK1 4914 broad.mit.edu 37 1 156845314 156845314 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:156845314C>A uc001fqh.1 + 12 1413 c.1357C>A c.(1357-1359)CCG>ACG p.P453T NTRK1_uc001fqf.1_Missense_Mutation_p.P417T|NTRK1_uc009wsi.1_Missense_Mutation_p.P152T|NTRK1_uc001fqi.1_Missense_Mutation_p.P447T|NTRK1_uc009wsk.1_Missense_Mutation_p.P447T NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 453 Cytoplasmic (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CTCTCTAGGCCCGGCTGTGCT 0.637 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 99 146 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156933370 156933370 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:156933370G>A uc001fqo.2 - 11 1900 c.860C>T c.(859-861)CCA>CTA p.P287L ARHGEF11_uc001fqn.2_Missense_Mutation_p.P327L NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 287 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TAAAGGCTTTGGGCTTTGATC 0.423 14 246 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167095218 167095218 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:167095218G>C uc001geb.1 + 5 850 c.850G>C c.(850-852)GAG>CAG p.E284Q NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 284 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GGAGAGAGAAGAGGACTATGG 0.617 23 113 --- --- --- --- PASS TNFSF4 7292 broad.mit.edu 37 1 173155730 173155730 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:173155730G>A uc001giw.2 - 3 633 c.477C>T c.(475-477)TCC>TCT p.S159S TNFSF4_uc001giv.2_Silent_p.S109S NM_003326 NP_003317 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, 159 Extracellular (Potential). acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity central_nervous_system(1) 1 AGTCATCCAGGGAGGTATTGT 0.448 23 216 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196884210 196884210 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:196884210G>C uc001gto.2 + 5 810 c.741G>C c.(739-741)CAG>CAC p.Q247H CFHR4_uc009wyy.2_Missense_Mutation_p.Q493H|CFHR4_uc001gtp.2_Missense_Mutation_p.Q494H NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 247 Sushi 4. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 ATGAACTTCAGGGTTCTAATT 0.403 122 251 --- --- --- --- PASS ATF3 467 broad.mit.edu 37 1 212788511 212788511 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:212788511C>A uc001hjf.2 + 2 281 c.148C>A c.(148-150)CAG>AAG p.Q50K ATF3_uc001hjj.2_Missense_Mutation_p.Q50K|ATF3_uc009xdg.1_RNA|ATF3_uc001hjh.2_Missense_Mutation_p.Q50K|ATF3_uc001hji.2_Missense_Mutation_p.Q50K|ATF3_uc010ptg.1_RNA NM_001030287 NP_001025458 P18847 ATF3_HUMAN activating transcription factor 3 isoform 1 50 nucleolus identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933) GTTTGCCATCCAGAACAAGCA 0.572 5 218 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848479 215848479 + Silent SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:215848479T>C uc001hku.1 - 63 13161 c.12774A>G c.(12772-12774)ACA>ACG p.T4258T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4258 Extracellular (Potential).|Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGCTTGCAATGTCCTCACCA 0.363 HNSCC(13;0.011) 48 73 --- --- --- --- PASS URB2 9816 broad.mit.edu 37 1 229770687 229770687 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:229770687G>A uc001hts.1 + 4 463 c.327G>A c.(325-327)GAG>GAA p.E109E URB2_uc009xfd.1_Silent_p.E109E NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 109 nucleolus central_nervous_system(2)|ovary(1) 3 GAGTAGCTGAGTTCTCTCTTT 0.413 9 121 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237936937 237936937 + Nonsense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:237936937G>T uc001hyl.1 + 87 11884 c.11764G>T c.(11764-11766)GAG>TAG p.E3922* RYR2_uc010pya.1_Nonsense_Mutation_p.E337* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3922 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CACTCTTACAGAGTATATTCA 0.353 7 18 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240371436 240371436 + Silent SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:240371436T>C uc010pyd.1 + 5 3549 c.3324T>C c.(3322-3324)CCT>CCC p.P1108P FMN2_uc010pye.1_Silent_p.P1112P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1108 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGGGCATACCTCCTCCGCCCC 0.731 3 23 --- --- --- --- PASS AHCTF1 25909 broad.mit.edu 37 1 247053361 247053361 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:247053361T>C uc001ibu.1 - 16 2058 c.2051A>G c.(2050-2052)GAT>GGT p.D684G AHCTF1_uc001ibv.1_Missense_Mutation_p.D693G|AHCTF1_uc009xgs.1_5'UTR NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 684 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CACAGAATCATCTAGATTTTT 0.338 26 144 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248031301 248031301 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:248031301C>T uc001ido.2 + 5 855 c.807C>T c.(805-807)ATC>ATT p.I269I OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 269 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAGAGAACATCCCCATGGAAC 0.532 19 44 --- --- --- --- PASS OR2M5 127059 broad.mit.edu 37 1 248308992 248308992 + Silent SNP C T T rs141891339 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:248308992C>T uc010pze.1 + 1 543 c.543C>T c.(541-543)TTC>TTT p.F181F NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TCTGTGACTTCCCTTCCCTAC 0.423 95 754 --- --- --- --- PASS OR2T12 127064 broad.mit.edu 37 1 248458744 248458744 + Missense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr1:248458744A>T uc010pzj.1 - 1 137 c.137T>A c.(136-138)CTG>CAG p.L46Q NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CCAGTGAATCAGGAGAATCAT 0.527 35 238 --- --- --- --- PASS NT5C1B 93034 broad.mit.edu 37 2 18736983 18736983 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:18736983C>T uc010exr.2 - 9 1531 c.1427G>A c.(1426-1428)GGA>GAA p.G476E NT5C1B_uc002rcy.2_3'UTR|RDH14_uc002rcx.3_Missense_Mutation_p.G162E NM_033253 NP_150278 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 2 Error:Variant_position_missing_in_Q96P26_after_alignment purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) ATGGTTCACTCCGAACTGCAT 0.458 105 201 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27459695 27459695 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:27459695C>T uc002rji.2 + 27 4555 c.4393C>T c.(4393-4395)CCG>TCG p.P1465S CAD_uc010eyw.2_Missense_Mutation_p.P1402S NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1465 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGTGCGACTGCCGGGTAAGTC 0.577 5 401 --- --- --- --- PASS CLEC4F 165530 broad.mit.edu 37 2 71036442 71036442 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:71036442G>A uc002shf.2 - 7 1808 c.1731C>T c.(1729-1731)TTC>TTT p.F577F CLEC4F_uc010yqv.1_Intron NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 577 Extracellular (Potential).|C-type lectin. endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 GGGTGTCTATGAAGCTGCAAG 0.527 44 69 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79350070 79350070 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:79350070C>T uc002snz.2 + 5 528 c.425C>T c.(424-426)TCA>TTA p.S142L REG1A_uc010ysd.1_Missense_Mutation_p.S142L NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 142 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 AGCCTGACCTCAAGCACAGGT 0.567 50 182 --- --- --- --- PASS STARD7 56910 broad.mit.edu 37 2 96873906 96873906 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:96873906C>A uc002svm.3 - 1 668 c.267G>T c.(265-267)AGG>AGT p.R89S LOC285033_uc002svn.2_5'Flank|LOC285033_uc002svo.2_5'Flank NM_020151 NP_064536 Q9NQZ5 STAR7_HUMAN START domain containing 7 precursor 89 Potential. mitochondrion 0 CCTCCTGGATCCTCTCCTCGT 0.687 13 44 --- --- --- --- PASS C2orf40 84417 broad.mit.edu 37 2 106694236 106694236 + Missense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:106694236A>T uc010fjf.2 + 4 409 c.301A>T c.(301-303)ATC>TTC p.I101F NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN esophageal cancer related gene 4 protein 101 extracellular region|transport vesicle 0 TGAAGATGACATCACCTATTG 0.423 29 207 --- --- --- --- PASS EPB41L5 57669 broad.mit.edu 37 2 120889225 120889225 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:120889225G>T uc002tmg.2 + 18 1659 c.1533G>T c.(1531-1533)CAG>CAT p.Q511H EPB41L5_uc010fll.2_Missense_Mutation_p.Q511H|EPB41L5_uc010flm.2_Missense_Mutation_p.Q315H NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 511 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 AGCTCAAACAGCTTGAGATGG 0.443 14 137 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132010529 132010529 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:132010529C>T uc002tsn.2 + 13 1687 c.1635C>T c.(1633-1635)CAC>CAT p.H545H PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.H145H|POTEE_uc002tsl.2_Silent_p.H127H|POTEE_uc010fmy.1_Silent_p.H9H NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 545 ATP binding 0 TGAAGAAGCACGGAAGTACTC 0.393 14 153 --- --- --- --- PASS RAB3GAP1 22930 broad.mit.edu 37 2 135884226 135884226 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:135884226G>T uc002tuj.2 + 11 998 c.973G>T c.(973-975)GGT>TGT p.G325C RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G325C|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G150C|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 325 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) GTGTTTGCTAGGTAAGGTATA 0.373 85 249 --- --- --- --- PASS CXCR4 7852 broad.mit.edu 37 2 136873271 136873271 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:136873271T>C uc002tuz.2 - 2 322 c.227A>G c.(226-228)TAC>TGC p.Y76C CXCR4_uc002tuy.2_Missense_Mutation_p.Y80C|CXCR4_uc010fnk.2_Missense_Mutation_p.Y61C NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 76 Cytoplasmic. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GTGCAGCCTGTACTTGTCCGT 0.507 53 255 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170002329 170002329 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:170002329C>T uc002ues.2 - 70 13129 c.12916G>A c.(12916-12918)GAG>AAG p.E4306K NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4306 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) AGCGTTTTCTCTTTCTTTCCT 0.393 28 100 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170038679 170038679 + Nonsense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:170038679A>T uc002ues.2 - 51 10209 c.9996T>A c.(9994-9996)TAT>TAA p.Y3332* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3332 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) GACAATACCCATATTGAGGGT 0.507 65 172 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170127502 170127502 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:170127502G>A uc002ues.2 - 16 2445 c.2232C>T c.(2230-2232)GTC>GTT p.V744V LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 744 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) AATCAATCCCGACAAAGAAAG 0.418 4 168 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179421741 179421741 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:179421741G>A uc010zfg.1 - 279 80660 c.80436C>T c.(80434-80436)GGC>GGT p.G26812G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G20507G|TTN_uc010zfi.1_Silent_p.G20440G|TTN_uc010zfj.1_Silent_p.G20315G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27739 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) TGGTCCATCTGCCATCTGGAA 0.453 23 61 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202609061 202609061 + Missense_Mutation SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:202609061T>A uc002uyo.2 - 10 2446 c.2090A>T c.(2089-2091)GAG>GTG p.E697V ALS2_uc002uyp.3_Missense_Mutation_p.E697V|ALS2_uc002uyq.2_Missense_Mutation_p.E697V|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 697 DH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 AGTAGCTAACTCGTGGAGACT 0.403 31 107 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215855660 215855660 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr2:215855660G>A uc002vew.2 - 24 3610 c.3390C>T c.(3388-3390)ATC>ATT p.I1130I ABCA12_uc002vev.2_Silent_p.I812I|ABCA12_uc010zjn.1_Silent_p.I57I NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1130 Helical; (Potential). cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGAGTATAATGATGAGGATCA 0.398 37 143 --- --- --- --- PASS TOP2B 7155 broad.mit.edu 37 3 25686854 25686854 + Silent SNP T G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:25686854T>G uc011awn.1 - 2 220 c.177A>C c.(175-177)ACA>ACC p.T59T TOP2B_uc003cdj.2_Silent_p.T54T NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 59 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GTTCAAGTTGTGTCTTCTTCT 0.363 66 166 --- --- --- --- PASS C3orf39 84892 broad.mit.edu 37 3 43122452 43122452 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:43122452G>A uc003cmq.1 - 2 613 c.472C>T c.(472-474)CGC>TGC p.R158C C3orf39_uc003cmr.1_Missense_Mutation_p.R158C NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 158 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) GGGTTGAAGCGGTTGGCGATG 0.617 7 117 --- --- --- --- PASS C3orf45 132228 broad.mit.edu 37 3 50324115 50324115 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:50324115G>A uc003cyz.2 + 3 210 c.183G>A c.(181-183)CTG>CTA p.L61L NM_153215 NP_694947 Q8N112 CC045_HUMAN hypothetical protein LOC132228 61 integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CAGGCACACTGCGCCCCTATC 0.637 12 60 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 78796020 78796020 + Nonsense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:78796020G>T uc003dqe.2 - 5 738 c.530C>A c.(529-531)TCG>TAG p.S177* ROBO1_uc003dqb.2_Nonsense_Mutation_p.S138*|ROBO1_uc003dqc.2_Nonsense_Mutation_p.S138*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.S138* NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 177 Extracellular (Potential).|Ig-like C2-type 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CATGACATCCGAAGGGTTTTG 0.458 3 47 --- --- --- --- PASS ARL6 84100 broad.mit.edu 37 3 97499500 97499500 + Missense_Mutation SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:97499500A>G uc003drv.2 + 5 540 c.227A>G c.(226-228)TAC>TGC p.Y76C ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.Y76C|ARL6_uc010hoy.2_Missense_Mutation_p.Y76C NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 76 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding 0 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) CAAGGAAGATACAGAAATCTC 0.284 Bardet-Biedl_syndrome 83 135 --- --- --- --- PASS OR5H15 403274 broad.mit.edu 37 3 97887879 97887879 + Silent SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:97887879T>C uc011bgu.1 + 1 336 c.336T>C c.(334-336)TGT>TGC p.C112C NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCACAGAATGTTTTCTCTTGG 0.378 4 247 --- --- --- --- PASS TRAT1 50852 broad.mit.edu 37 3 108549571 108549571 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:108549571C>G uc003dxi.1 + 2 206 c.62C>G c.(61-63)GCT>GGT p.A21G TRAT1_uc010hpx.1_Intron NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 21 Helical; Signal-anchor for type III membrane protein; (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 TTGGGCTTGGCTTTGGTTATA 0.398 111 251 --- --- --- --- PASS C3orf30 152405 broad.mit.edu 37 3 118865136 118865136 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:118865136G>T uc003ecb.1 + 1 140 c.100G>T c.(100-102)GAC>TAC p.D34Y IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.D34Y NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 34 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) GGAAGAAGACGACCAGAAGAA 0.552 32 68 --- --- --- --- PASS RABL3 285282 broad.mit.edu 37 3 120461339 120461339 + Silent SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:120461339G>T uc003edx.2 - 1 46 c.16C>A c.(16-18)CGG>AGG p.R6R GTF2E1_uc003edy.2_5'Flank|GTF2E1_uc003edz.3_5'Flank NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 6 Small GTPase-like. small GTPase mediated signal transduction GTP binding 0 GBM - Glioblastoma multiforme(114;0.151) ACCTTCACCCGATCCAGGGAC 0.552 22 155 --- --- --- --- PASS ABTB1 80325 broad.mit.edu 37 3 127398972 127398972 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:127398972C>T uc003ejt.2 + 11 1262 c.1174C>T c.(1174-1176)CGC>TGC p.R392C ABTB1_uc003ejr.2_Missense_Mutation_p.R250C|ABTB1_uc003ejs.2_Missense_Mutation_p.R367C|ABTB1_uc003eju.2_Missense_Mutation_p.R250C|ABTB1_uc010hsm.2_Missense_Mutation_p.R119C NM_172027 NP_742024 Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 392 cytoplasm|nucleolus|plasma membrane translation elongation factor activity 0 CAAGCTCTTCCGCCTGGCGCG 0.642 97 401 --- --- --- --- PASS PPP2R3A 5523 broad.mit.edu 37 3 135721425 135721425 + Missense_Mutation SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:135721425A>G uc003eqv.1 + 2 1650 c.1085A>G c.(1084-1086)AAG>AGG p.K362R PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 362 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 AATTCTAGGAAGATGGACACT 0.388 3 146 --- --- --- --- PASS AGTR1 185 broad.mit.edu 37 3 148459391 148459391 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:148459391C>A uc003ewg.2 + 4 1015 c.569C>A c.(568-570)ACC>AAC p.T190N AGTR1_uc003ewh.2_Missense_Mutation_p.T190N|AGTR1_uc003ewi.2_Missense_Mutation_p.T190N|AGTR1_uc003ewj.2_Missense_Mutation_p.T190N|AGTR1_uc003ewk.2_Missense_Mutation_p.T190N NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 190 Extracellular (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CAAAATTCAACCCTCCCGATA 0.403 14 173 --- --- --- --- PASS CLRN1 7401 broad.mit.edu 37 3 150659451 150659451 + Silent SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:150659451G>T uc003eyk.1 - 2 642 c.351C>A c.(349-351)GCC>GCA p.A117A CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Silent_p.A41A|CLRN1_uc010hvj.1_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 117 Helical; (Potential). equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ACATGAAGAAGGCTGTCCCCA 0.428 34 103 --- --- --- --- PASS SGEF 26084 broad.mit.edu 37 3 153870648 153870648 + Missense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:153870648A>T uc011bog.1 + 6 1625 c.1414A>T c.(1414-1416)AGT>TGT p.S472C SGEF_uc011boh.1_Missense_Mutation_p.S472C NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 472 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TAAAGAACTGAGTGATACAAT 0.383 6 17 --- --- --- --- PASS NCEH1 57552 broad.mit.edu 37 3 172351674 172351674 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:172351674G>A uc011bpx.1 - 5 1076 c.938C>T c.(937-939)TCA>TTA p.S313L NCEH1_uc003fig.2_Missense_Mutation_p.S305L|NCEH1_uc011bpw.1_Missense_Mutation_p.S140L|NCEH1_uc011bpy.1_Missense_Mutation_p.S140L NM_001146276 NP_001139748 Q6PIU2 NCEH1_HUMAN arylacetamide deacetylase-like 1 isoform a 273 Lumenal (Potential). lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity 0 CACATCAAGTGAAGTGTGATT 0.493 16 306 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186457173 186457173 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr3:186457173C>T uc011bsa.1 + 9 1307 c.1095C>T c.(1093-1095)TAC>TAT p.Y365Y KNG1_uc003fqr.2_Silent_p.Y365Y NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 365 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) AAAAAATTTACCCTACTGTCA 0.423 105 293 --- --- --- --- PASS GRK4 2868 broad.mit.edu 37 4 3029676 3029676 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr4:3029676G>A uc003ggn.1 + 11 1463 c.1008G>A c.(1006-1008)GAG>GAA p.E336E GRK4_uc003ggo.1_Silent_p.E336E|GRK4_uc003ggp.1_Silent_p.E304E|GRK4_uc003ggq.1_Silent_p.E304E NM_182982 NP_892027 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 isoform 336 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGCCACAGAGATCCCAGAAG 0.507 75 155 --- --- --- --- PASS STK32B 55351 broad.mit.edu 37 4 5468481 5468481 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr4:5468481G>C uc003gih.1 + 10 1025 c.961G>C c.(961-963)GAA>CAA p.E321Q STK32B_uc010ida.1_Missense_Mutation_p.E274Q NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 321 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GATGATTCTAGAATCCAAGCC 0.493 31 63 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36126522 36126522 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr4:36126522G>C uc003gsq.1 - 22 4046 c.3708C>G c.(3706-3708)AAC>AAG p.N1236K NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1236 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GTGTTGCTCGGTTGACCCCTG 0.373 22 49 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46307591 46307591 + Missense_Mutation SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr4:46307591T>A uc003gxc.3 - 6 1370 c.697A>T c.(697-699)AGT>TGT p.S233C GABRA2_uc010igc.2_Missense_Mutation_p.S233C|GABRA2_uc011bzc.1_Missense_Mutation_p.S178C|GABRA2_uc003gxe.2_Missense_Mutation_p.S233C NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 233 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TAACCTGTACTGGATTTAATT 0.368 25 85 --- --- --- --- PASS LIN54 132660 broad.mit.edu 37 4 83857171 83857171 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr4:83857171C>A uc003hnx.3 - 11 2186 c.1808G>T c.(1807-1809)CGA>CTA p.R603L LIN54_uc003hnz.3_Missense_Mutation_p.R382L|LIN54_uc003hny.3_Missense_Mutation_p.R202L|LIN54_uc010ijt.2_Missense_Mutation_p.R514L|LIN54_uc010iju.2_Missense_Mutation_p.R202L|LIN54_uc010ijv.2_Missense_Mutation_p.R382L NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 603 CXC 2. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) ACATCCTGATCGTTTGCAATT 0.403 4 250 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111463936 111463936 + Nonsense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr4:111463936G>T uc003iab.3 + 12 2179 c.1837G>T c.(1837-1839)GGA>TGA p.G613* NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 613 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TAATCCTAGTGGAAATGCTTT 0.383 28 84 --- --- --- --- PASS SEC24D 9871 broad.mit.edu 37 4 119644736 119644736 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr4:119644736G>A uc003ici.3 - 23 3305 c.3033C>T c.(3031-3033)TAC>TAT p.Y1011Y SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.Y1012Y NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 1011 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 AAGAGCCTCCGTAAAGTCCTT 0.383 5 180 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158254042 158254042 + Silent SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr4:158254042A>G uc003ipm.3 + 7 1413 c.954A>G c.(952-954)AGA>AGG p.R318R GRIA2_uc011cit.1_Silent_p.R271R|GRIA2_uc003ipl.3_Silent_p.R318R|GRIA2_uc003ipk.3_Silent_p.R271R|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 318 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GGAAGCAAAGAATTGAAATCT 0.483 19 73 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13729589 13729589 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:13729589C>T uc003jfd.2 - 69 11884 c.11842G>A c.(11842-11844)GAA>AAA p.E3948K DNAH5_uc003jfc.2_Missense_Mutation_p.E116K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3948 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTGCTAAGTTCCACCAAATTC 0.378 Kartagener_syndrome 31 121 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24491929 24491929 + Silent SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:24491929A>T uc003jgr.1 - 11 1964 c.1632T>A c.(1630-1632)ACT>ACA p.T544T CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 544 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGATTCTGGCAGTATTATCTA 0.294 HNSCC(23;0.051) 9 35 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26915759 26915759 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:26915759C>T uc003jgs.1 - 3 671 c.502G>A c.(502-504)GTT>ATT p.V168I CDH9_uc010iug.2_Missense_Mutation_p.V168I NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 168 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ATTTCAGGAACACTGGCAGTG 0.353 21 63 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 31799606 31799606 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:31799606G>T uc003jhl.2 + 2 639 c.251G>T c.(250-252)GGC>GTC p.G84V PDZD2_uc003jhm.2_Missense_Mutation_p.G84V NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 84 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GAGACTGTGGGCCTGAGTTTT 0.577 17 770 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33937484 33937484 + Silent SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:33937484G>T uc003jic.1 + 1 996 c.639G>T c.(637-639)TCG>TCT p.S213S NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 213 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GCTGCTTCTCGGCCAAGGCGC 0.677 13 38 --- --- --- --- PASS CHSY3 337876 broad.mit.edu 37 5 129521341 129521341 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:129521341G>T uc003kvd.2 + 3 2506 c.2506G>T c.(2506-2508)GTT>TTT p.V836F NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 836 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TTTCCATCCAGTTCATTGTGA 0.443 28 105 --- --- --- --- PASS KDM3B 51780 broad.mit.edu 37 5 137721893 137721893 + Silent SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:137721893A>G uc003lcy.1 + 7 1163 c.963A>G c.(961-963)CGA>CGG p.R321R KDM3B_uc010jew.1_Intron|KDM3B_uc011cys.1_5'Flank NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 321 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 AGGCAAGCCGAGGGCCCTGGA 0.542 67 168 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140573603 140573603 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:140573603C>T uc003lix.2 + 1 1652 c.1478C>T c.(1477-1479)CCC>CTC p.P493L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 493 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGCTGCCGCCCCAAGACCCG 0.682 23 145 --- --- --- --- PASS JAKMIP2 9832 broad.mit.edu 37 5 147029969 147029969 + Missense_Mutation SNP T G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:147029969T>G uc003loq.1 - 4 1151 c.769A>C c.(769-771)AAC>CAC p.N257H JAKMIP2_uc011dbx.1_Missense_Mutation_p.N215H|JAKMIP2_uc003lor.1_Missense_Mutation_p.N257H|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.N257H NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 257 Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTCATGTTGCACTCAGCC 0.483 5 131 --- --- --- --- PASS GALNT10 55568 broad.mit.edu 37 5 153760052 153760052 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr5:153760052G>T uc003lvh.2 + 6 931 c.799G>T c.(799-801)GAT>TAT p.D267Y GALNT10_uc003lvg.1_Missense_Mutation_p.D267Y|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.D108Y NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 267 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CCCGATGATTGATGTAATTGA 0.537 97 221 --- --- --- --- PASS OR2B6 26212 broad.mit.edu 37 6 27925357 27925357 + Silent SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:27925357T>C uc011dkx.1 + 1 339 c.339T>C c.(337-339)CTT>CTC p.L113L NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTGAATATCTTCTCCTGGCCG 0.458 16 157 --- --- --- --- PASS OR12D2 26529 broad.mit.edu 37 6 29365344 29365344 + Missense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:29365344A>T uc003nmf.3 + 1 929 c.868A>T c.(868-870)ACT>TCT p.T290S NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACTGATCTATACTTTGAGGAA 0.458 68 236 --- --- --- --- PASS ITPR3 3710 broad.mit.edu 37 6 33641396 33641396 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:33641396G>A uc011drk.1 + 23 3176 c.2957G>A c.(2956-2958)CGC>CAC p.R986H NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 986 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CTGGATTACCGCATATCCTAC 0.542 7 806 --- --- --- --- PASS ZNF451 26036 broad.mit.edu 37 6 56993549 56993549 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:56993549C>T uc003pdm.1 + 5 559 c.335C>T c.(334-336)GCT>GTT p.A112V ZNF451_uc003pdl.2_Missense_Mutation_p.A112V|ZNF451_uc003pdn.1_Missense_Mutation_p.A112V|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.A112V NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTTCAGCATGCTCATGGGTTA 0.358 10 90 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76022396 76022396 + Missense_Mutation SNP C A A rs144029973 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:76022396C>A uc003pia.2 - 5 3525 c.3152G>T c.(3151-3153)CGG>CTG p.R1051L FILIP1_uc003phy.1_Missense_Mutation_p.R1051L|FILIP1_uc003phz.2_Missense_Mutation_p.R952L|FILIP1_uc010kbe.2_Missense_Mutation_p.R1054L|FILIP1_uc003pib.1_Missense_Mutation_p.R803L NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1051 skin(3)|ovary(1) 4 GTTGTATTTCCGTACTGGAGT 0.463 6 825 --- --- --- --- PASS HTR1E 3354 broad.mit.edu 37 6 87725810 87725810 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:87725810C>A uc003pli.2 + 2 1461 c.758C>A c.(757-759)ACC>AAC p.T253N NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 253 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCAGACCCTACCACAGAGTTT 0.478 66 506 --- --- --- --- PASS CDK19 23097 broad.mit.edu 37 6 110953250 110953250 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:110953250T>C uc003puh.1 - 6 702 c.629A>G c.(628-630)CAT>CGT p.H210R CDK19_uc003pui.1_Missense_Mutation_p.H150R|CDK19_uc011eax.1_Missense_Mutation_p.H86R NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 210 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 CTTTGTATAATGCCTTGCACC 0.353 24 188 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146276093 146276093 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:146276093C>A uc003qlf.2 - 2 765 c.366G>T c.(364-366)CAG>CAT p.Q122H SHPRH_uc003qld.2_Missense_Mutation_p.Q122H|SHPRH_uc003qle.2_Missense_Mutation_p.Q122H|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron|SHPRH_uc003qlk.1_Missense_Mutation_p.Q122H NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 122 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CAGGAAGAAGCTGAAGAGTTA 0.328 16 72 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152786540 152786540 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:152786540C>A uc010kiw.2 - 18 2387 c.1785G>T c.(1783-1785)AGG>AGT p.R595S SYNE1_uc003qot.3_Missense_Mutation_p.R602S|SYNE1_uc003qou.3_Missense_Mutation_p.R595S|SYNE1_uc010kjb.1_Missense_Mutation_p.R578S|SYNE1_uc003qpa.1_Missense_Mutation_p.R595S|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.R111S|SYNE1_uc003qoz.2_Missense_Mutation_p.R27S|SYNE1_uc003qoy.2_Missense_Mutation_p.R162S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 595 Cytoplasmic (Potential).|HAT 1. 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) CTGAGAGATTCCTCCACTGAG 0.428 HNSCC(10;0.0054) 25 61 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160477534 160477534 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:160477534C>G uc003qta.2 + 20 2921 c.2773C>G c.(2773-2775)CAG>GAG p.Q925E NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 925 6.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CTGTCCCATTCAGACAACGAC 0.552 26 155 --- --- --- --- PASS PARK2 5071 broad.mit.edu 37 6 162683555 162683555 + Splice_Site SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr6:162683555A>T uc003qtx.3 - 3 546 c.412_splice c.e3+1 p.A138_splice PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Splice_Site|PARK2_uc003qty.3_Splice_Site_p.A138_splice|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Splice_Site_p.A138_splice NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CATTCCAATTACCTGGACTTC 0.488 35 190 --- --- --- --- PASS ICA1 3382 broad.mit.edu 37 7 8272244 8272244 + Silent SNP G A A rs149823604 byFrequency TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:8272244G>A uc003srm.2 - 3 226 c.159C>T c.(157-159)GAC>GAT p.D53D ICA1_uc010ktr.2_Silent_p.D53D|ICA1_uc003srl.2_Silent_p.D41D|ICA1_uc003srn.3_Translation_Start_Site|ICA1_uc003srp.3_Silent_p.D52D|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Silent_p.D53D|ICA1_uc003srr.2_Silent_p.D52D|ICA1_uc003sro.3_Silent_p.D53D|ICA1_uc011jxg.1_Silent_p.D53D|ICA1_uc003srs.1_Silent_p.D53D NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 53 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CCAGGTCCGCGTCAGAGGCAA 0.478 5 62 --- --- --- --- PASS GPNMB 10457 broad.mit.edu 37 7 23296641 23296641 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:23296641C>T uc003swc.2 + 4 659 c.498C>T c.(496-498)CCC>CCT p.P166P GPNMB_uc003swa.2_Silent_p.P166P|GPNMB_uc003swb.2_Silent_p.P166P|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Silent_p.P67P NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 166 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) CTCACCACCCCGGATGGAGAA 0.468 107 192 --- --- --- --- PASS AQP1 358 broad.mit.edu 37 7 30951901 30951901 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:30951901G>A uc003tbv.1 + 1 434 c.377G>A c.(376-378)CGC>CAC p.R126H AQP1_uc011kac.1_Missense_Mutation_p.R186H NM_198098 NP_932766 P29972 AQP1_HUMAN aquaporin 1 126 Extracellular. ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity 0 Melanoma(862;0.16) Acetazolamide(DB00819) TCGCTTGGCCGCAATGACGTG 0.498 5 298 --- --- --- --- PASS NPSR1 387129 broad.mit.edu 37 7 34851432 34851432 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:34851432C>T uc003teg.1 + 4 563 c.435C>T c.(433-435)GAC>GAT p.D145D AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.D145D|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.D145D|NPSR1_uc010kww.1_Silent_p.D134D|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 145 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) TCAGCATAGACAGATACCATG 0.498 44 277 --- --- --- --- PASS TBX20 57057 broad.mit.edu 37 7 35242156 35242156 + Silent SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:35242156G>T uc011kas.1 - 8 1241 c.1230C>A c.(1228-1230)GGC>GGA p.G410G NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 410 nucleus DNA binding central_nervous_system(1) 1 GGAATGTGGGGCCACTCCCTT 0.557 17 40 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43485045 43485045 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:43485045G>A uc003tid.1 + 11 2879 c.2274G>A c.(2272-2274)CTG>CTA p.L758L HECW1_uc011kbi.1_Silent_p.L758L NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 758 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GCCCTGAGCTGGACCCGGAGT 0.657 40 82 --- --- --- --- PASS SUN3 256979 broad.mit.edu 37 7 48046905 48046905 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:48046905C>T uc003tof.2 - 6 446 c.349G>A c.(349-351)GAA>AAA p.E117K SUN3_uc010kyq.2_Missense_Mutation_p.E17K|SUN3_uc003tog.2_Missense_Mutation_p.E117K|SUN3_uc011kcf.1_Missense_Mutation_p.E105K NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 117 Potential. integral to membrane central_nervous_system(1) 1 AAATTGTTTTCCAGATTCTGG 0.413 46 120 --- --- --- --- PASS DDC 1644 broad.mit.edu 37 7 50571751 50571751 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:50571751C>A uc003tpf.3 - 7 807 c.721G>T c.(721-723)GCC>TCC p.A241S DDC_uc010kza.2_Missense_Mutation_p.A156S|DDC_uc003tpg.3_Missense_Mutation_p.A241S NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 241 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CCCAGGGTGGCAACCATCTAG 0.488 40 177 --- --- --- --- PASS CCT6A 908 broad.mit.edu 37 7 56130730 56130730 + Silent SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:56130730C>G uc003trl.1 + 14 1712 c.1548C>G c.(1546-1548)CTC>CTG p.L516L PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Silent_p.L471L|CCT6A_uc011kcu.1_Silent_p.L485L|SUMF2_uc003tro.2_5'Flank|SUMF2_uc011kcv.1_5'Flank|SUMF2_uc011kcw.1_5'Flank|SUMF2_uc011kcx.1_5'Flank|SUMF2_uc003trv.2_5'Flank|SUMF2_uc003trt.2_5'Flank|SUMF2_uc011kcy.1_5'Flank|SUMF2_uc011kcz.1_5'Flank|SUMF2_uc003tru.2_5'Flank|SUMF2_uc011kda.1_5'Flank|SUMF2_uc003trx.2_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 516 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCAACATTCTCTTGGTTGATG 0.443 49 550 --- --- --- --- PASS KRIT1 889 broad.mit.edu 37 7 91864747 91864747 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:91864747C>G uc003ulq.1 - 6 870 c.699G>C c.(697-699)TTG>TTC p.L233F KRIT1_uc010lev.1_Missense_Mutation_p.L26F|KRIT1_uc003ulr.1_Missense_Mutation_p.L233F|KRIT1_uc003uls.1_Missense_Mutation_p.L233F|KRIT1_uc003ult.1_Missense_Mutation_p.L233F|KRIT1_uc003ulu.1_Missense_Mutation_p.L233F|KRIT1_uc003ulv.1_Missense_Mutation_p.L233F NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 233 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGATCCAAACAAAGGGTTGT 0.343 Familial_Cerebral_Cavernous_Angioma 9 144 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92970853 92970853 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:92970853G>A uc003umo.2 + 23 2301 c.2173G>A c.(2173-2175)GGG>AGG p.G725R CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.G695R|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.G445R NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 725 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TACGCTGTATGGGTTGGCAGA 0.433 56 132 --- --- --- --- PASS PON1 5444 broad.mit.edu 37 7 94947701 94947701 + Nonsense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:94947701G>A uc003uns.2 - 2 176 c.79C>T c.(79-81)CGA>TGA p.R27* PON1_uc011kih.1_Intron NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 27 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GCATTAAGTCGTGTTCTGTGG 0.388 6 61 --- --- --- --- PASS TAF6 6878 broad.mit.edu 37 7 99711348 99711348 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr7:99711348G>A uc003uti.2 - 4 369 c.288C>T c.(286-288)TTC>TTT p.F96F TAF6_uc003utg.2_Silent_p.F37F|TAF6_uc003uth.2_Silent_p.F153F|TAF6_uc003utk.2_Silent_p.F96F|TAF6_uc011kji.1_Silent_p.F133F|TAF6_uc003utj.2_Silent_p.F86F|TAF6_uc003utl.2_Silent_p.F96F|TAF6_uc003utm.2_Silent_p.F96F|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 96 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACCAGAGGCGAAGCGGAAAG 0.597 37 53 --- --- --- --- PASS SLC20A2 6575 broad.mit.edu 37 8 42297058 42297058 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr8:42297058C>T uc010lxl.2 - 7 1538 c.844G>A c.(844-846)GAC>AAC p.D282N SLC20A2_uc010lxm.2_Missense_Mutation_p.D282N|SLC20A2_uc003xpe.2_Missense_Mutation_p.D282N|SLC20A2_uc011lcu.1_Missense_Mutation_p.D84N NM_006749 NP_006740 Q08357 S20A2_HUMAN solute carrier family 20, member 2 282 Cytoplasmic (Potential). interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity ovary(2) 2 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATGGTGCTGTCATCATTAGCC 0.557 19 224 --- --- --- --- PASS STAU2 27067 broad.mit.edu 37 8 74516011 74516011 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr8:74516011C>A uc003xzm.2 - 10 1215 c.979G>T c.(979-981)GTT>TTT p.V327F STAU2_uc011lfg.1_Missense_Mutation_p.V155F|STAU2_uc003xzn.2_Missense_Mutation_p.V295F|STAU2_uc011lfh.1_Missense_Mutation_p.V223F|STAU2_uc003xzo.2_Missense_Mutation_p.V327F|STAU2_uc003xzp.2_Missense_Mutation_p.V295F|STAU2_uc011lfi.1_Missense_Mutation_p.V289F|STAU2_uc003xzq.2_Missense_Mutation_p.V107F|STAU2_uc010lzk.2_Missense_Mutation_p.V295F|STAU2_uc010lzl.1_Missense_Mutation_p.V155F NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 327 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GAAAGCAAAACATAATCCGGC 0.413 27 95 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103340026 103340026 + Silent SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr8:103340026A>T uc003ykr.1 - 12 1458 c.1425T>A c.(1423-1425)TCT>TCA p.S475S UBR5_uc003yks.1_Silent_p.S475S NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 475 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGCAATGTAAAGAAACTATCC 0.433 16 181 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106815442 106815442 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr8:106815442G>A uc003ymd.2 + 8 3155 c.3132G>A c.(3130-3132)GTG>GTA p.V1044V ZFPM2_uc011lhs.1_Silent_p.V775V NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 1044 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGGTAATAGTGAATGGTGGAC 0.473 24 43 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110504122 110504122 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr8:110504122G>A uc003yne.2 + 62 10239 c.10135G>A c.(10135-10137)GCC>ACC p.A3379T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3379 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGGGGGAATGCCAACCGAGT 0.378 HNSCC(38;0.096) 6 7 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164580 139164580 + Missense_Mutation SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr8:139164580A>G uc003yuy.2 - 13 2309 c.2138T>C c.(2137-2139)GTC>GCC p.V713A FAM135B_uc003yux.2_Missense_Mutation_p.V614A|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.V275A|FAM135B_uc003yvb.2_Missense_Mutation_p.V275A NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 713 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGGGTGCAAGACTTCCCGATC 0.552 HNSCC(54;0.14) 22 114 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79836154 79836154 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr9:79836154G>T uc004akr.2 + 13 1303 c.1043G>T c.(1042-1044)TGG>TTG p.W348L VPS13A_uc004akp.3_Missense_Mutation_p.W348L|VPS13A_uc004akq.3_Missense_Mutation_p.W348L|VPS13A_uc004aks.2_Missense_Mutation_p.W348L NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 348 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 CCCAGGTTATGGATGTGGTCA 0.348 4 155 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101817581 101817581 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr9:101817581G>T uc004azb.1 + 34 3325 c.3119G>T c.(3118-3120)GGA>GTA p.G1040V NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1040 Triple-helical region 7 (COL7). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GGTGAAAAAGGAGAAAAAGGA 0.498 36 128 --- --- --- --- PASS MUSK 4593 broad.mit.edu 37 9 113431191 113431191 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr9:113431191G>A uc004bey.2 + 1 105 c.7G>A c.(7-9)GAG>AAG p.E3K MUSK_uc004bex.2_Missense_Mutation_p.E3K NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 3 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 AATCATGAGAGAGCTCGTCAA 0.433 7 603 --- --- --- --- PASS ZNF618 114991 broad.mit.edu 37 9 116812085 116812085 + Nonsense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr9:116812085G>T uc004bid.2 + 15 2602 c.2503G>T c.(2503-2505)GAG>TAG p.E835* ZNF618_uc004bic.2_Nonsense_Mutation_p.E742*|ZNF618_uc011lxi.1_Nonsense_Mutation_p.E802*|ZNF618_uc011lxj.1_Nonsense_Mutation_p.E803*|ZNF618_uc010mvb.2_Nonsense_Mutation_p.E425* NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTCATCAACGAGGTGAAGGA 0.637 47 105 --- --- --- --- PASS FBXW5 54461 broad.mit.edu 37 9 139835842 139835842 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr9:139835842C>T uc004cjx.2 - 8 1469 c.1318G>A c.(1318-1320)GCG>ACG p.A440T FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.A188T|FBXW5_uc004cjz.2_Missense_Mutation_p.A170T NM_018998 NP_061871 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 440 catalytic activity|protein binding 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) ATCTCCTCCGCGATTGGTGGC 0.667 6 33 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17146477 17146477 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:17146477G>C uc001ioo.2 - 12 1410 c.1358C>G c.(1357-1359)TCT>TGT p.S453C NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 453 EGF-like 7; calcium-binding (Potential). 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) ACAACTGAAAGAATCAACGCC 0.468 3 123 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55566745 55566745 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:55566745G>T uc010qhq.1 - 36 5038 c.4643C>A c.(4642-4644)GCA>GAA p.A1548E PCDH15_uc010qhr.1_Missense_Mutation_p.A1543E NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACCATTCTGTGCAATATATAT 0.478 HNSCC(58;0.16) 20 92 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582824 55582824 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:55582824G>A uc001jju.1 - 33 5057 c.4662C>T c.(4660-4662)CCC>CCT p.P1554P PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1551P|PCDH15_uc010qhw.1_Silent_p.P1514P|PCDH15_uc010qhx.1_Silent_p.P1485P|PCDH15_uc010qhy.1_Silent_p.P1561P|PCDH15_uc010qhz.1_Silent_p.P1556P|PCDH15_uc010qia.1_Silent_p.P1534P|PCDH15_uc010qib.1_Silent_p.P1531P NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1554 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTTGTATTTTGGGTGAAAATG 0.423 HNSCC(58;0.16) 41 199 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68687433 68687433 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:68687433C>A uc001jmz.1 + 2 1309 c.759C>A c.(757-759)AGC>AGA p.S253R CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.S253R NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 253 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GGACCTGGAGCTCCTTACAAA 0.483 85 295 --- --- --- --- PASS COL13A1 1305 broad.mit.edu 37 10 71678051 71678051 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:71678051G>A uc001jpr.1 + 18 1543 c.1007G>A c.(1006-1008)GGA>GAA p.G336E COL13A1_uc001jqj.1_Missense_Mutation_p.G336E|COL13A1_uc001jps.1_Missense_Mutation_p.G307E|COL13A1_uc001jpt.1_Missense_Mutation_p.G295E|COL13A1_uc001jpu.1_Missense_Mutation_p.G317E|COL13A1_uc001jpv.1_Missense_Mutation_p.G336E|COL13A1_uc001jpx.1_Missense_Mutation_p.G314E|COL13A1_uc001jpw.1_Missense_Mutation_p.G283E|COL13A1_uc001jpy.1_Missense_Mutation_p.G274E|COL13A1_uc001jpz.1_Missense_Mutation_p.G279E|COL13A1_uc001jqa.1_Missense_Mutation_p.G276E|COL13A1_uc001jqc.1_Missense_Mutation_p.G336E|COL13A1_uc001jqb.1_Missense_Mutation_p.G285E|COL13A1_uc001jql.2_Missense_Mutation_p.G336E|COL13A1_uc001jqd.1_Missense_Mutation_p.G324E|COL13A1_uc001jqe.1_Missense_Mutation_p.G319E|COL13A1_uc001jqf.1_Missense_Mutation_p.G317E|COL13A1_uc001jqg.1_Missense_Mutation_p.G314E|COL13A1_uc001jqh.1_Missense_Mutation_p.G336E|COL13A1_uc001jqi.1_Missense_Mutation_p.G336E|COL13A1_uc010qjf.1_Missense_Mutation_p.G126E|COL13A1_uc001jqk.1_Missense_Mutation_p.G174E NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 336 Extracellular (Potential).|Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) GGGGCGCCCGGAATTGCCGTG 0.592 17 53 --- --- --- --- PASS PSD 5662 broad.mit.edu 37 10 104171506 104171506 + Nonsense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:104171506G>A uc001kvg.1 - 8 2427 c.1900C>T c.(1900-1902)CAG>TAG p.Q634* PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Nonsense_Mutation_p.Q255*|PSD_uc009xxd.1_Nonsense_Mutation_p.Q634* NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 634 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AAGTATCGCTGGGAGAAGTGG 0.592 6 55 --- --- --- --- PASS FAM160B1 57700 broad.mit.edu 37 10 116596002 116596002 + Silent SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:116596002A>G uc001lcb.2 + 5 854 c.519A>G c.(517-519)CTA>CTG p.L173L FAM160B1_uc001lcc.2_Silent_p.L173L NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 173 lung(1) 1 ACTTTTTCCTAGAGGTATGAT 0.343 91 250 --- --- --- --- PASS TCERG1L 256536 broad.mit.edu 37 10 133106502 133106502 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:133106502C>T uc001lkp.2 - 3 728 c.642G>A c.(640-642)ACG>ACA p.T214T NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 214 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) CTAACACCACCGTGGGGAGCG 0.478 11 33 --- --- --- --- PASS JAKMIP3 282973 broad.mit.edu 37 10 133930716 133930716 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:133930716C>T uc001lkx.3 + 2 271 c.271C>T c.(271-273)CGT>TGT p.R91C NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) ACAGGCTGTGCGTGAGACGCT 0.607 8 57 --- --- --- --- PASS DPYSL4 10570 broad.mit.edu 37 10 134013907 134013907 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr10:134013907G>A uc009ybb.2 + 9 1013 c.859G>A c.(859-861)GGT>AGT p.G287S NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 287 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGGCACCGACGGTTCACACTA 0.667 4 135 --- --- --- --- PASS NLRP6 171389 broad.mit.edu 37 11 281697 281697 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:281697G>A uc010qvs.1 + 4 1963 c.1963G>A c.(1963-1965)GAC>AAC p.D655N NLRP6_uc010qvt.1_Missense_Mutation_p.D655N NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 655 cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CTGCCGCATGGACGTGGCTGT 0.627 64 211 --- --- --- --- PASS OR2AG1 144125 broad.mit.edu 37 11 6806907 6806907 + Silent SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:6806907T>A uc001mer.1 + 1 639 c.639T>A c.(637-639)GCT>GCA p.A213A NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTCTTGCTGCTATACTGGCCT 0.498 67 215 --- --- --- --- PASS ST5 6764 broad.mit.edu 37 11 8732709 8732709 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:8732709G>A uc001mgt.2 - 10 2428 c.2242C>T c.(2242-2244)CCT>TCT p.P748S ST5_uc009yfr.2_Missense_Mutation_p.P328S|ST5_uc001mgu.2_Missense_Mutation_p.P328S|ST5_uc001mgv.2_Missense_Mutation_p.P748S|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.P261S|ST5_uc009yfs.2_RNA NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 748 UDENN. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TTGGCATCAGGGAAGCAAAAC 0.567 51 204 --- --- --- --- PASS TEAD1 7003 broad.mit.edu 37 11 12904622 12904622 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:12904622C>T uc001mkj.3 + 9 1269 c.604C>T c.(604-606)CGC>TGC p.R202C TEAD1_uc001mkk.3_Missense_Mutation_p.R121C|TEAD1_uc009ygl.2_Missense_Mutation_p.R96C NM_021961 NP_068780 P28347 TEAD1_HUMAN TEA domain family member 1 217 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) AACCAAGCTTCGCCTGGTGGA 0.547 8 341 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22249017 22249017 + Missense_Mutation SNP G T T rs146725859 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:22249017G>T uc001mqi.2 + 7 850 c.533G>T c.(532-534)AGT>ATT p.S178I ANO5_uc001mqj.2_Missense_Mutation_p.S177I NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 178 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 CTCCCACTGAGTGTGAAGTAT 0.463 44 187 --- --- --- --- PASS OR4C11 219429 broad.mit.edu 37 11 55371597 55371597 + Missense_Mutation SNP A T T rs143807541 byFrequency TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:55371597A>T uc010rii.1 - 1 253 c.253T>A c.(253-255)TCT>ACT p.S85T NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTCTTTTCAGAGAGAGCATCC 0.393 28 113 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432849 55432849 + Silent SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:55432849C>A uc001nht.3 + 3 472 c.207C>A c.(205-207)GTC>GTA p.V69V OR4C6_uc010rik.1_Silent_p.V69V NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TTTTGGATGTCATGTTCTCAT 0.453 87 284 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56020624 56020624 + Missense_Mutation SNP C A A rs147827901 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:56020624C>A uc010rjd.1 + 1 949 c.949C>A c.(949-951)CCC>ACC p.P317T NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 317 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) CAAGTTGAATCCCATCATCTA 0.323 9 49 --- --- --- --- PASS OR5A1 219982 broad.mit.edu 37 11 59211379 59211379 + Silent SNP G A A rs147466806 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:59211379G>A uc001nnx.1 + 1 738 c.738G>A c.(736-738)TCG>TCA p.S246S NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CGTGTGCCTCGCATCTGATGG 0.542 133 431 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65389837 65389837 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:65389837G>T uc001oey.2 + 11 2357 c.2357G>T c.(2356-2358)CGG>CTG p.R786L PCNXL3_uc009yqn.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 786 integral to membrane 0 CTGCTGGACCGGTGAGTGTCC 0.642 3 10 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65396071 65396071 + Nonsense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:65396071G>A uc001oey.2 + 23 3708 c.3708G>A c.(3706-3708)TGG>TGA p.W1236* PCNXL3_uc001oez.2_Nonsense_Mutation_p.W123* NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1236 integral to membrane 0 GCCAGCTGTGGGACTTGCTGT 0.602 19 69 --- --- --- --- PASS GDPD5 81544 broad.mit.edu 37 11 75160035 75160035 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:75160035C>T uc001owo.3 - 10 1238 c.701G>A c.(700-702)CGC>CAC p.R234H GDPD5_uc001owp.3_Missense_Mutation_p.R234H|GDPD5_uc001own.3_5'UTR|GDPD5_uc009yuc.2_Missense_Mutation_p.R96H|GDPD5_uc009yud.2_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain 234 Extracellular (Potential).|GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity ovary(1) 1 GGGGGCCCCGCGGTGGCCAAT 0.607 22 58 --- --- --- --- PASS MAML2 84441 broad.mit.edu 37 11 95825560 95825560 + Silent SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:95825560C>A uc001pfw.1 - 2 2920 c.1635G>T c.(1633-1635)CCG>CCT p.P545P NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 545 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TGGCTGGGTGCGGGTTGTTAA 0.527 T MECT1|CRTC3 salivary gland mucoepidermoid 11 41 --- --- --- --- PASS MMP1 4312 broad.mit.edu 37 11 102667842 102667842 + Silent SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:102667842A>T uc001phi.2 - 3 545 c.402T>A c.(400-402)ATT>ATA p.I134I uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.I68I NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 134 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AGGCTTTCTCAATGGCATGGT 0.433 100 351 --- --- --- --- PASS USP28 57646 broad.mit.edu 37 11 113688476 113688476 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:113688476G>A uc001poh.2 - 13 1400 c.1367C>T c.(1366-1368)CCT>CTT p.P456L USP28_uc001pog.2_Missense_Mutation_p.P164L|USP28_uc010rwy.1_Missense_Mutation_p.P331L|USP28_uc001poi.2_Intron|USP28_uc001poj.3_Missense_Mutation_p.P456L NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 456 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TTCTGAGGCAGGTTTTGTACT 0.463 4 348 --- --- --- --- PASS OR8D4 338662 broad.mit.edu 37 11 123777604 123777604 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:123777604G>A uc010saa.1 + 1 466 c.466G>A c.(466-468)GCT>ACT p.A156T NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TTTCACTGATGCTGTGATCCA 0.468 104 383 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124766107 124766107 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr11:124766107C>T uc001qbg.2 - 4 806 c.666G>A c.(664-666)CGG>CGA p.R222R ROBO4_uc010sas.1_Silent_p.R77R|ROBO4_uc001qbh.2_Silent_p.R112R|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 222 Ig-like C2-type 2. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGATGGAAACCCGGGCTGCGC 0.602 61 179 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6058318 6058318 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:6058318C>T uc001qnn.1 - 52 8555 c.8305G>A c.(8305-8307)GAC>AAC p.D2769N ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2769 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GAGCACTGGTCCTGCACATCG 0.547 33 91 --- --- --- --- PASS CHD4 1108 broad.mit.edu 37 12 6690881 6690881 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:6690881T>C uc001qpo.2 - 31 4779 c.4615A>G c.(4615-4617)AAA>GAA p.K1539E CHD4_uc001qpn.2_Missense_Mutation_p.K1532E|CHD4_uc001qpp.2_Missense_Mutation_p.K1564E|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1539 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GTAGGAGTTTTTGGGGAGGGT 0.557 70 202 --- --- --- --- PASS C12orf59 120939 broad.mit.edu 37 12 10342551 10342551 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:10342551C>A uc001qxr.2 + 5 981 c.364C>A c.(364-366)CAC>AAC p.H122N C12orf59_uc001qxq.2_Missense_Mutation_p.H102N Q4KMG9 CL059_HUMAN RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor; 122 integral to membrane ovary(1) 1 GGCTCACTCCCACAGCTCCCT 0.562 16 144 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12317355 12317355 + Missense_Mutation SNP A C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:12317355A>C uc001rah.3 - 9 2046 c.1904T>G c.(1903-1905)TTG>TGG p.L635W BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.L635W NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 635 Extracellular (Potential).|Beta-propeller 3. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CCGTGAAAACAAAAGGAAAGC 0.453 18 277 --- --- --- --- PASS GUCY2C 2984 broad.mit.edu 37 12 14792812 14792812 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:14792812T>C uc001rcd.2 - 19 2278 c.2141A>G c.(2140-2142)GAG>GGG p.E714G NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 714 Cytoplasmic (Potential).|Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 CTCTTTTTCCTCTGCTGTTTC 0.254 68 221 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50189134 50189134 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:50189134T>C uc009zlk.2 - 8 2711 c.2509A>G c.(2509-2511)AAG>GAG p.K837E NCKAP5L_uc001rvc.3_Missense_Mutation_p.K41E|NCKAP5L_uc001rvb.2_Missense_Mutation_p.K430E NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 833 Pro-rich. central_nervous_system(1) 1 GGGGACTCCTTGGTGACTAGC 0.637 23 165 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50196740 50196740 + Splice_Site SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:50196740C>A uc009zlk.2 - 5 433 c.231_splice c.e5+1 p.K77_splice NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like central_nervous_system(1) 1 GGGTTACTCACCTTCTGGTTC 0.602 15 47 --- --- --- --- PASS ATP5G2 517 broad.mit.edu 37 12 54059103 54059103 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:54059103T>C uc009znc.2 - 6 1122 c.421A>G c.(421-423)ATG>GTG p.M141V ATP5G2_uc001sec.2_Missense_Mutation_p.M198V|ATP5G2_uc001sed.2_Missense_Mutation_p.M157V NM_001002031 NP_001002031 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial F0 141 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding ovary(1) 1 CTCCTTCACATGGCAAAGAGG 0.567 19 53 --- --- --- --- PASS OR6C65 403282 broad.mit.edu 37 12 55794749 55794749 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:55794749C>A uc010spl.1 + 1 437 c.437C>A c.(436-438)TCC>TAC p.S146Y NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTAATCAGCTCCTGGCTGGCT 0.428 47 204 --- --- --- --- PASS ERBB3 2065 broad.mit.edu 37 12 56477570 56477570 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:56477570G>A uc001sjh.2 + 2 311 c.118G>A c.(118-120)GGC>AGC p.G40S ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_5'UTR|ERBB3_uc001sjg.2_Missense_Mutation_p.G40S NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 40 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GAGTGTGACCGGCGATGCTGA 0.547 9 445 --- --- --- --- PASS ZBTB39 9880 broad.mit.edu 37 12 57398015 57398015 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:57398015G>A uc001sml.1 - 2 773 c.687C>T c.(685-687)CTC>CTT p.L229L RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 CAGTGCCTAGGAGTGGCTGGG 0.572 8 76 --- --- --- --- PASS SRGAP1 57522 broad.mit.edu 37 12 64238638 64238638 + Missense_Mutation SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:64238638A>G uc010ssp.1 + 1 98 c.42A>G c.(40-42)ATA>ATG p.I14M SRGAP1_uc001srt.2_Missense_Mutation_p.I14M NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 14 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AAGAGATCATAGCCGAGTATG 0.493 21 195 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72050788 72050788 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:72050788C>G uc001swo.2 - 2 1251 c.892G>C c.(892-894)GCA>CCA p.A298P ZFC3H1_uc010sts.1_Missense_Mutation_p.A298P|ZFC3H1_uc001swp.2_Missense_Mutation_p.A298P NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 298 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 AATTCAAATGCCTGAAAAGTT 0.368 52 180 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78452816 78452816 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:78452816C>A uc001syp.2 + 12 2730 c.2557C>A c.(2557-2559)CTG>ATG p.L853M NAV3_uc001syo.2_Missense_Mutation_p.L853M|NAV3_uc010sub.1_Missense_Mutation_p.L353M NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 853 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TACTAGAAGTCTGAACCGAAT 0.398 HNSCC(70;0.22) 18 119 --- --- --- --- PASS SDS 10993 broad.mit.edu 37 12 113835191 113835191 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:113835191G>A uc001tvg.2 - 6 554 c.432C>T c.(430-432)GGC>GGT p.G144G SDS_uc001tvh.1_Silent_p.G144G NM_006843 NP_006834 P20132 SDHL_HUMAN serine dehydratase 144 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding pancreas(1) 1 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TGGAAGCGTGGCCTTCCCTGG 0.657 20 80 --- --- --- --- PASS FBXO21 23014 broad.mit.edu 37 12 117610395 117610395 + Silent SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:117610395T>A uc001twk.2 - 7 933 c.894A>T c.(892-894)ACA>ACT p.T298T FBXO21_uc001twj.2_Silent_p.T298T|FBXO21_uc009zwq.2_Silent_p.T298T NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 298 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TTGGGATTCCTGTTCTGCGAA 0.353 38 101 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130847603 130847603 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr12:130847603C>T uc001uik.2 + 18 2199 c.2109C>T c.(2107-2109)GGC>GGT p.G703G PIWIL1_uc001uij.1_Silent_p.G703G NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 703 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ACCGCGATGGCGTAGGAGACG 0.478 48 150 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26127982 26127982 + Missense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr13:26127982A>T uc001uqk.2 + 12 1251 c.1109A>T c.(1108-1110)TAC>TTC p.Y370F ATP8A2_uc010tdi.1_Missense_Mutation_p.Y330F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.Y330F NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 330 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ATCATCTTATACAACAATCTT 0.393 85 244 --- --- --- --- PASS LMO7 4008 broad.mit.edu 37 13 76432057 76432057 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr13:76432057C>G uc001vjv.2 + 27 4826 c.4066C>G c.(4066-4068)CTG>GTG p.L1356V LMO7_uc010thv.1_Missense_Mutation_p.S1343C|LMO7_uc010thw.1_Missense_Mutation_p.S1269C|LMO7_uc001vjx.1_RNA NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 Error:Variant_position_missing_in_Q8WWI1_after_alignment cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GCCCGATCAGCTGGACGGCCA 0.448 4 109 --- --- --- --- PASS OR4L1 122742 broad.mit.edu 37 14 20528999 20528999 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:20528999G>C uc001vwn.1 + 1 796 c.796G>C c.(796-798)GCA>CCA p.A266P NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CAGTAGTTTGGCAAGCAATAA 0.408 37 80 --- --- --- --- PASS RNASE13 440163 broad.mit.edu 37 14 21502245 21502245 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:21502245C>A uc001vzj.2 - 2 341 c.203G>T c.(202-204)TGC>TTC p.C68F NDRG2_uc010tll.1_Intron NM_001012264 NP_001012264 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 precursor 68 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1) 1 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) GATCTTTGGGCAATCTGAATT 0.433 61 133 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52507411 52507411 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:52507411G>A uc001wzo.2 - 8 2218 c.1984C>T c.(1984-1986)CAC>TAC p.H662Y NID2_uc010tqs.1_Missense_Mutation_p.H662Y|NID2_uc010tqt.1_Missense_Mutation_p.H662Y|NID2_uc001wzp.2_Missense_Mutation_p.H662Y NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 662 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GGAGAGATGTGGGCTGTGAAA 0.368 5 377 --- --- --- --- PASS PTGDR 5729 broad.mit.edu 37 14 52734677 52734677 + Missense_Mutation SNP T G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:52734677T>G uc001wzq.2 + 1 247 c.145T>G c.(145-147)TGC>GGC p.C49G NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 49 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GCTGGGGTGGTGCTCGCGGCG 0.692 4 22 --- --- --- --- PASS PPP2R5E 5529 broad.mit.edu 37 14 63851287 63851287 + Silent SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:63851287C>A uc001xgd.1 - 12 1667 c.1077G>T c.(1075-1077)GTG>GTT p.V359V PPP2R5E_uc010tsf.1_Silent_p.V283V|PPP2R5E_uc010tsg.1_Silent_p.V283V|PPP2R5E_uc001xge.2_Silent_p.V359V|PPP2R5E_uc010tsh.1_Silent_p.V359V|PPP2R5E_uc001xgf.1_RNA NM_006246 NP_006237 Q16537 2A5E_HUMAN epsilon isoform of regulatory subunit B56, 359 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) CTCTTTCTGCCACCTTTGGGA 0.299 57 104 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 74975375 74975375 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:74975375C>T uc001xqa.2 - 24 3971 c.3584G>A c.(3583-3585)AGC>AAC p.S1195N NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1195 Cys-rich.|EGF-like 12; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGACCCGTGGCTGTTGAGGCA 0.632 31 60 --- --- --- --- PASS AMN 81693 broad.mit.edu 37 14 103390101 103390101 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:103390101G>A uc001ymg.3 + 2 130 c.97G>A c.(97-99)GCA>ACA p.A33T AMN_uc001ymh.3_5'UTR NM_030943 NP_112205 Q9BXJ7 AMNLS_HUMAN amnionless protein precursor 33 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|multicellular organismal development integral to membrane|plasma membrane 0 Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTCGACGTCGCAGCCAACTG 0.706 13 81 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104208451 104208451 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:104208451G>T uc001yof.1 - 11 1781 c.1498C>A c.(1498-1500)CCC>ACC p.P500T PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.P367T NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 500 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) AGCAGGGTGGGCCTCTGTCGA 0.642 8 106 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106322307 106322307 + RNA SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:106322307G>T uc010tyt.1 - 3598 c.55179C>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron Parts of antibodies, mostly variable regions. 0 GAAAAGGGTTGGGGCGGATGC 0.627 3 2 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107199139 107199139 + RNA SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr14:107199139G>A uc010tyt.1 - 21 c.1559C>T Parts of antibodies, mostly variable regions. 0 CCATGTAGTGGTCACTGAAGG 0.592 29 168 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25936908 25936908 + Missense_Mutation SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr15:25936908T>A uc010ayu.2 - 15 3225 c.3119A>T c.(3118-3120)CAG>CTG p.Q1040L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1040 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ATCTGCCACCTGGATCATGCT 0.473 93 411 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29346291 29346291 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr15:29346291C>T uc001zck.2 + 3 411 c.204C>T c.(202-204)CCC>CCT p.P68P APBA2_uc010azj.2_Silent_p.P68P|APBA2_uc010uat.1_Silent_p.P68P|APBA2_uc001zcl.2_Silent_p.P68P|APBA2_uc010uas.1_Silent_p.P68P NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 68 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ACCACAGCCCCGATGGGGACT 0.642 51 349 --- --- --- --- PASS SLC24A5 283652 broad.mit.edu 37 15 48431199 48431199 + Missense_Mutation SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr15:48431199A>G uc001zwe.2 + 7 978 c.905A>G c.(904-906)GAC>GGC p.D302G SLC24A5_uc010bel.2_Missense_Mutation_p.D242G|uc001zwf.1_5'Flank|SLC24A5_uc001zwk.2_5'Flank NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 302 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CCTGAAGCAGACTTAAAAAGA 0.313 18 59 --- --- --- --- PASS PRTG 283659 broad.mit.edu 37 15 55929437 55929437 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr15:55929437G>T uc002adg.2 - 15 2602 c.2554C>A c.(2554-2556)CGC>AGC p.R852S NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 852 Fibronectin type-III 5. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ATAGTATAGCGGGTCACAACT 0.473 6 463 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78475066 78475066 + Missense_Mutation SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr15:78475066T>A uc002bdh.2 - 6 781 c.725A>T c.(724-726)AAG>ATG p.K242M ACSBG1_uc010umw.1_Missense_Mutation_p.K238M|ACSBG1_uc010umx.1_Translation_Start_Site|ACSBG1_uc010umy.1_Missense_Mutation_p.K135M NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 242 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 ATTGGCCATCTTGTTTGGAGG 0.527 28 361 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84611716 84611716 + Missense_Mutation SNP C T T rs144077662 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr15:84611716C>T uc002bjz.3 + 19 2596 c.2372C>T c.(2371-2373)ACG>ATG p.T791M ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T791M|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T791M NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 791 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CAGCTGCTAACGGATGGCAGC 0.547 23 87 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88726675 88726675 + Missense_Mutation SNP A C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr15:88726675A>C uc002bme.1 - 4 531 c.369T>G c.(367-369)TTT>TTG p.F123L NTRK3_uc002bmh.2_Missense_Mutation_p.F123L|NTRK3_uc002bmf.1_Missense_Mutation_p.F123L|NTRK3_uc010upl.1_Missense_Mutation_p.F25L|NTRK3_uc010bnh.1_Missense_Mutation_p.F123L|NTRK3_uc002bmg.2_Missense_Mutation_p.F123L NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 123 LRR 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GGTTCTTGGCAAAGGCTCTGG 0.463 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 42 378 --- --- --- --- PASS SEPT12 124404 broad.mit.edu 37 16 4827908 4827908 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:4827908G>A uc002cxq.2 - 10 1108 c.967C>T c.(967-969)CGC>TGC p.R323C SEPT12_uc002cxr.2_Missense_Mutation_p.R277C|SEPT12_uc010bty.2_RNA NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 323 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CCGGGCCCGCGGGGCAGCAGG 0.627 9 18 --- --- --- --- PASS ERCC4 2072 broad.mit.edu 37 16 14029165 14029165 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:14029165C>T uc002dce.2 + 8 1385 c.1376C>T c.(1375-1377)TCA>TTA p.S459L ERCC4_uc010uyz.1_Missense_Mutation_p.S9L NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 459 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 GAAGACAGTTCAAAGAGAATT 0.413 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 28 109 --- --- --- --- PASS UMOD 7369 broad.mit.edu 37 16 20359547 20359547 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:20359547G>C uc002dgz.2 - 4 1100 c.971C>G c.(970-972)ACT>AGT p.T324S UMOD_uc002dha.2_Missense_Mutation_p.T324S|UMOD_uc002dhb.2_Missense_Mutation_p.T357S NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 324 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 GGCCTCACCAGTGATGTTGAA 0.557 6 261 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20548681 20548681 + Nonsense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:20548681C>A uc002dhj.3 - 15 1843 c.1633G>T c.(1633-1635)GAG>TAG p.E545* ACSM2B_uc002dhk.3_Nonsense_Mutation_p.E545* NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 545 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 AAGACAAACTCTATCTGTTGA 0.483 5 359 --- --- --- --- PASS ERI2 112479 broad.mit.edu 37 16 20812550 20812550 + Missense_Mutation SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:20812550T>A uc010vbb.1 - 5 478 c.435A>T c.(433-435)AAA>AAT p.K145N ERI2_uc002dht.3_Missense_Mutation_p.K52N|ERI2_uc002dhs.2_Missense_Mutation_p.K145N|ERI2_uc010bwh.2_Missense_Mutation_p.K52N|ERI2_uc010vbc.1_5'UTR|ERI2_uc002dhu.1_Missense_Mutation_p.K145N NM_001142725 NP_001136197 A8K979 ERI2_HUMAN exoribonuclease 2 isoform 1 145 Exonuclease. intracellular exonuclease activity|nucleic acid binding|zinc ion binding large_intestine(1) 1 ATGCACATAATTTTACTTCAG 0.318 22 90 --- --- --- --- PASS IL27 246778 broad.mit.edu 37 16 28515293 28515293 + Missense_Mutation SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:28515293T>A uc002dqc.2 - 2 133 c.110A>T c.(109-111)CAG>CTG p.Q37L uc010vct.1_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN interleukin 27 precursor 37 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding 0 CAGGCTCAGCTGGGGCCTCCC 0.637 38 102 --- --- --- --- PASS CDH13 1012 broad.mit.edu 37 16 83712002 83712002 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:83712002G>T uc002fgx.2 + 10 1594 c.1474G>T c.(1474-1476)GTG>TTG p.V492L CDH13_uc010vns.1_Missense_Mutation_p.V539L|CDH13_uc010vnt.1_Missense_Mutation_p.V238L|CDH13_uc010vnu.1_Missense_Mutation_p.V453L NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 492 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GGACCTCTCTGTGGGCAGCGT 0.617 37 123 --- --- --- --- PASS FANCA 2175 broad.mit.edu 37 16 89858948 89858948 + Silent SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:89858948A>G uc002fou.1 - 12 1056 c.1014T>C c.(1012-1014)GAT>GAC p.D338D FANCA_uc010vpn.1_Silent_p.D338D NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 338 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TCTGAACAGCATCAGATGCTG 0.413 D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 25 117 --- --- --- --- PASS SPIRE2 84501 broad.mit.edu 37 16 89936619 89936619 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr16:89936619G>A uc002foz.1 + 15 2136 c.2084G>A c.(2083-2085)CGA>CAA p.R695Q SPIRE2_uc010ciw.1_Missense_Mutation_p.R647Q|SPIRE2_uc002fpa.1_Missense_Mutation_p.R647Q|SPIRE2_uc010cix.1_Missense_Mutation_p.R562Q NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 695 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) ACTACGCCACGACGCAGTCGC 0.607 4 17 --- --- --- --- PASS DVL2 1856 broad.mit.edu 37 17 7133693 7133693 + Silent SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr17:7133693C>G uc002gez.1 - 3 603 c.321G>C c.(319-321)CGG>CGC p.R107R DVL2_uc010vtr.1_Silent_p.R107R|DVL2_uc010vts.1_Silent_p.R9R|DVL2_uc010clz.1_Silent_p.R107R NM_004422 NP_004413 O14641 DVL2_HUMAN dishevelled 2 107 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity lung(1)|kidney(1) 2 CCAGTTCTGCCCGAGGCTCAT 0.587 27 120 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C A A rs11540652 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr17:7577538C>A uc002gim.2 - 7 937 c.743G>T c.(742-744)CGG>CTG p.R248L TP53_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.2_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 37 88 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 15978954 15978954 + Silent SNP C A A rs144012103 by1000genomes TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr17:15978954C>A uc002gpo.2 - 27 3804 c.3564G>T c.(3562-3564)TCG>TCT p.S1188S NCOR1_uc002gpn.2_Silent_p.S1204S|NCOR1_uc002gpp.1_Silent_p.S1095S|NCOR1_uc010vwb.1_Intron|NCOR1_uc010coy.2_Silent_p.S96S|NCOR1_uc010vwc.1_5'UTR NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1188 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGGGCATTCTCGAAATGGACC 0.493 4 269 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29670080 29670080 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr17:29670080G>T uc002hgg.2 + 48 7449 c.7116G>T c.(7114-7116)AAG>AAT p.K2372N NF1_uc002hgh.2_Missense_Mutation_p.K2351N|NF1_uc010cso.2_Missense_Mutation_p.K560N|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2372 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGCACTGCAAGCAAATGGATC 0.363 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 144 --- --- --- --- PASS TTC25 83538 broad.mit.edu 37 17 40113408 40113408 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr17:40113408C>T uc002hyj.3 + 10 1541 c.1452C>T c.(1450-1452)GAC>GAT p.D484D TTC25_uc010cxt.2_RNA NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 484 cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) AGGCCTTGGACGATGCCAACA 0.498 4 13 --- --- --- --- PASS B4GALNT2 124872 broad.mit.edu 37 17 47237971 47237971 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr17:47237971C>A uc002ion.2 + 7 973 c.914C>A c.(913-915)CCT>CAT p.P305H B4GALNT2_uc010wlt.1_Missense_Mutation_p.P219H|B4GALNT2_uc010wlu.1_Missense_Mutation_p.P245H NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 305 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) ATCCGCCATCCTGTCATACCC 0.532 6 476 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67152038 67152038 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr17:67152038G>T uc010dfa.1 - 30 4363 c.3484C>A c.(3484-3486)CCC>ACC p.P1162T ABCA10_uc010wqs.1_Missense_Mutation_p.P154T|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1162 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TCCGGATTGGGATGAGTTTCT 0.413 31 143 --- --- --- --- PASS SSTR2 6752 broad.mit.edu 37 17 71166457 71166457 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr17:71166457C>A uc002jje.2 + 2 1359 c.999C>A c.(997-999)AGC>AGA p.S333R NM_001050 NP_001041 P30874 SSR2_HUMAN somatostatin receptor 2 333 Cytoplasmic (Potential). digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity 0 LUSC - Lung squamous cell carcinoma(166;0.197) TCAAGGTGAGCGGCACAGATG 0.522 5 211 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6973094 6973094 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr18:6973094T>C uc002knm.2 - 47 6830 c.6736A>G c.(6736-6738)ACA>GCA p.T2246A LAMA1_uc010wzj.1_Missense_Mutation_p.T1722A NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2246 Laminin G-like 1. 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) AACATGAGTGTTGAATTGTTT 0.368 137 477 --- --- --- --- PASS KIAA0802 23255 broad.mit.edu 37 18 8798272 8798272 + Nonsense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr18:8798272G>T uc002knr.2 + 10 2561 c.2419G>T c.(2419-2421)GGA>TGA p.G807* KIAA0802_uc002knq.2_Nonsense_Mutation_p.G766*|KIAA0802_uc002kns.2_Nonsense_Mutation_p.G137* NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1117 0 CGCGGACAGGGGACAGCCCCA 0.632 13 47 --- --- --- --- PASS DSG2 1829 broad.mit.edu 37 18 29125982 29125982 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr18:29125982C>T uc002kwu.3 + 15 2821 c.2633C>T c.(2632-2634)TCA>TTA p.S878L uc002kwv.3_Intron NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 878 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) ATGGTTAATTCAGAGAATACC 0.388 69 198 --- --- --- --- PASS PIK3C3 5289 broad.mit.edu 37 18 39595531 39595531 + Splice_Site SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr18:39595531G>T uc002lap.2 + 12 1474 c.1416_splice c.e12+1 p.E472_splice PIK3C3_uc010xcl.1_Splice_Site_p.E409_splice NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 AAATCTGGAAGTGAGTACAAA 0.373 TSP Lung(28;0.18) 4 154 --- --- --- --- PASS ZNF414 84330 broad.mit.edu 37 19 8577341 8577341 + Nonsense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:8577341C>A uc002mkf.2 - 4 578 c.460G>T c.(460-462)GAG>TAG p.E154* ZNF414_uc002mke.3_Nonsense_Mutation_p.E154*|ZNF414_uc010dwf.2_Nonsense_Mutation_p.E143* NM_032370 NP_115746 Q96IQ9 ZN414_HUMAN zinc finger protein 414 isoform 2 154 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGAAGGTCTCGGTGCAGCTC 0.607 4 192 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602907 10602907 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:10602907G>T uc002moq.1 - 3 827 c.671C>A c.(670-672)TCC>TAC p.S224Y KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.S224Y NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 224 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TTGGCAGTGGGACAGGTTGAA 0.612 25 57 --- --- --- --- PASS FARSA 2193 broad.mit.edu 37 19 13044510 13044510 + Missense_Mutation SNP T G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:13044510T>G uc002mvs.2 - 1 49 c.1A>C c.(1-3)ATG>CTG p.M1L FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.M1L|FARSA_uc010dyy.1_Missense_Mutation_p.M1L NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 1 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) CCATCCGCCATGACTCCTTCC 0.677 2 3 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807265 20807265 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:20807265T>C uc002npb.1 - 4 1568 c.1418A>G c.(1417-1419)AAA>AGA p.K473R ZNF626_uc002npc.1_Missense_Mutation_p.K397R NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 473 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AGTATGAATTTTCTTATGTGT 0.388 3 37 --- --- --- --- PASS DYRK1B 9149 broad.mit.edu 37 19 40318157 40318157 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:40318157G>C uc002omj.2 - 7 1227 c.947C>G c.(946-948)TCC>TGC p.S316C DYRK1B_uc002omi.2_Missense_Mutation_p.S316C|DYRK1B_uc002omk.2_Missense_Mutation_p.S316C NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 316 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CACCTCATTGGAGCCACTGAA 0.642 55 64 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42853772 42853772 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:42853772G>T uc002otl.3 + 13 2854 c.2219G>T c.(2218-2220)GGC>GTC p.G740V MEGF8_uc002otm.3_Missense_Mutation_p.G348V NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 807 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GAGATCCAGGGCCAGCTCAAT 0.647 10 219 --- --- --- --- PASS ZNF577 84765 broad.mit.edu 37 19 52380565 52380565 + Missense_Mutation SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:52380565C>T uc010yde.1 - 6 644 c.253G>A c.(253-255)GAA>AAA p.E85K ZNF577_uc010ydd.1_RNA|ZNF577_uc002pxx.3_Missense_Mutation_p.E85K|ZNF577_uc002pxv.2_Missense_Mutation_p.E78K|ZNF577_uc002pxw.2_Missense_Mutation_p.E78K NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 85 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCTGCTCCTTCTGCTATCCCT 0.507 78 188 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57327379 57327379 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:57327379C>G uc002qnu.2 - 7 2782 c.2431G>C c.(2431-2433)GAT>CAT p.D811H ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D782H|PEG3_uc002qnv.2_Missense_Mutation_p.D811H|PEG3_uc002qnw.2_Missense_Mutation_p.D687H|PEG3_uc002qnx.2_Missense_Mutation_p.D685H|PEG3_uc010etr.2_Missense_Mutation_p.D811H NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 811 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTGATAGCATCGAAGCTCTGA 0.468 57 537 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328935 57328935 + Missense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:57328935A>T uc002qnu.2 - 7 1226 c.875T>A c.(874-876)ATG>AAG p.M292K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M263K|PEG3_uc002qnv.2_Missense_Mutation_p.M292K|PEG3_uc002qnw.2_Missense_Mutation_p.M168K|PEG3_uc002qnx.2_Missense_Mutation_p.M166K|PEG3_uc010etr.2_Missense_Mutation_p.M292K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 292 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGCTTCAGGCATAGTTTTTAG 0.458 20 189 --- --- --- --- PASS ZNF671 79891 broad.mit.edu 37 19 58238825 58238825 + Missense_Mutation SNP T G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr19:58238825T>G uc002qpz.3 - 1 171 c.72A>C c.(70-72)AGA>AGC p.R24S ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GCGGCAGGCGTCTCGATCGGG 0.692 4 24 --- --- --- --- PASS RBCK1 10616 broad.mit.edu 37 20 398440 398440 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:398440G>A uc002wdp.3 + 4 1019 c.326G>A c.(325-327)CGA>CAA p.R109Q RBCK1_uc010zpl.1_Missense_Mutation_p.R109Q|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.R67Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 109 Interaction with IRF3.|Ubiquitin-like.|Interaction with RNF31.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CGGCTGGCACGAGACCAGGAG 0.517 17 71 --- --- --- --- PASS TBC1D20 128637 broad.mit.edu 37 20 420942 420942 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:420942C>G uc002wds.2 - 6 856 c.718G>C c.(718-720)GAC>CAC p.D240H TBC1D20_uc002wdv.2_Missense_Mutation_p.D63H|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA NM_144628 NP_653229 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 240 Rab-GAP TBC.|Helical; (Potential). interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1) 1 all_epithelial(17;0.228)|Breast(17;0.231) AGGAAGAAGTCATATAACCGC 0.562 14 57 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5903669 5903669 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:5903669C>T uc002wmg.2 + 4 1185 c.879C>T c.(877-879)TCC>TCT p.S293S CHGB_uc010zqz.1_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 293 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 CCGACAGGTCCTCTCAAGGAG 0.582 5 39 --- --- --- --- PASS MCM8 84515 broad.mit.edu 37 20 5963711 5963711 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:5963711G>A uc002wmi.2 + 14 2010 c.1633G>A c.(1633-1635)GGT>AGT p.G545S MCM8_uc002wmj.2_Missense_Mutation_p.G529S|MCM8_uc002wmk.2_Missense_Mutation_p.G585S|MCM8_uc002wml.2_Missense_Mutation_p.G545S|MCM8_uc010gbp.2_Missense_Mutation_p.G498S|MCM8_uc002wmm.2_Missense_Mutation_p.G83S NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 545 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 TGCTAAGGCTGGTGTGGTTTG 0.403 10 169 --- --- --- --- PASS CST1 1469 broad.mit.edu 37 20 23728456 23728456 + Silent SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:23728456G>T uc002wtp.2 - 3 494 c.423C>A c.(421-423)TCC>TCA p.S141S NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 141 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) CAGATCCCTAGGATTCTTGAC 0.587 12 57 --- --- --- --- PASS CST1 1469 broad.mit.edu 37 20 23728457 23728457 + Missense_Mutation SNP G T T rs142792460 TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:23728457G>T uc002wtp.2 - 3 493 c.422C>A c.(421-423)TCC>TAC p.S141Y NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 141 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) AGATCCCTAGGATTCTTGACA 0.592 13 56 --- --- --- --- PASS GDF5 8200 broad.mit.edu 37 20 34025387 34025387 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:34025387G>T uc002xck.1 - 1 641 c.322C>A c.(322-324)CCA>ACA p.P108T GDF5_uc010gfc.1_Missense_Mutation_p.P108T|GDF5_uc010zvc.1_Missense_Mutation_p.P108T NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 108 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGGTGTCCTGGCTTGGGTTCA 0.637 14 114 --- --- --- --- PASS SPINT4 391253 broad.mit.edu 37 20 44352615 44352615 + Missense_Mutation SNP T A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:44352615T>A uc002xpe.1 + 2 231 c.212T>A c.(211-213)TTC>TAC p.F71Y NM_178455 NP_848550 Q6UDR6 SPIT4_HUMAN serine peptidase inhibitor, Kunitz type 4 71 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 Myeloproliferative disorder(115;0.028) ACTTTTGTCTTCTCCGGCTGT 0.388 62 212 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51872316 51872316 + Silent SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:51872316G>A uc002xwo.2 + 2 3275 c.2319G>A c.(2317-2319)AAG>AAA p.K773K NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 773 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CCAAAAGCAAGAAAGCCGAGT 0.557 89 209 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57484842 57484842 + Missense_Mutation SNP G C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:57484842G>C uc002xzw.2 + 10 3036 c.2751G>C c.(2749-2751)AAG>AAC p.K917N GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.K215N|GNAS_uc002xzx.2_Missense_Mutation_p.K215N|GNAS_uc010gjr.2_Missense_Mutation_p.K165N|GNAS_uc002xzy.2_Missense_Mutation_p.K200N|GNAS_uc002yaa.2_Missense_Mutation_p.K260N|GNAS_uc010zzt.1_Missense_Mutation_p.K275N|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.K165N|GNAS_uc002yae.2_Missense_Mutation_p.K199N NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 274 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACCTCTTCAAGAGCATCTGGA 0.582 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 27 178 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58348476 58348476 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:58348476C>G uc002yau.2 + 6 1361 c.894C>G c.(892-894)CAC>CAG p.H298Q PHACTR3_uc002yat.2_Missense_Mutation_p.H295Q|PHACTR3_uc010zzw.1_Missense_Mutation_p.H257Q|PHACTR3_uc002yav.2_Missense_Mutation_p.H257Q|PHACTR3_uc002yaw.2_Missense_Mutation_p.H257Q|PHACTR3_uc002yax.2_Missense_Mutation_p.H187Q NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 298 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AGGAGCTGCACAGGGCGCTGG 0.687 3 7 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60902416 60902416 + Missense_Mutation SNP A C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr20:60902416A>C uc002ycq.2 - 38 5052 c.4985T>G c.(4984-4986)GTG>GGG p.V1662G NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1662 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGGGGCACCACCTGCCGGTC 0.662 3 28 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33074583 33074583 + Missense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr21:33074583A>T uc002ypd.2 - 5 857 c.431T>A c.(430-432)GTA>GAA p.V144E SFRS15_uc002ype.2_Missense_Mutation_p.V144E|SFRS15_uc010glu.2_Missense_Mutation_p.V129E|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.V144E NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 144 nucleus nucleotide binding|RNA binding 0 ATTTTCTGCTACTGGGGCTGC 0.398 50 112 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21096998 21096998 + Missense_Mutation SNP T C C TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr22:21096998T>C uc002zsz.3 - 31 3568 c.3337A>G c.(3337-3339)AAA>GAA p.K1113E NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1113 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ACCATCATTTTGTTCAGGTCA 0.463 192 284 --- --- --- --- PASS HIC2 23119 broad.mit.edu 37 22 21800555 21800555 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr22:21800555C>T uc002zur.3 + 3 1601 c.1371C>T c.(1369-1371)CTC>CTT p.L457L HIC2_uc002zus.3_Silent_p.L457L NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 457 C2H2-type 1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) CTGAGCAGCTCAATGCGCACG 0.612 8 356 --- --- --- --- PASS ZNRF3 84133 broad.mit.edu 37 22 29442802 29442802 + Silent SNP C T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr22:29442802C>T uc003aeg.2 + 6 708 c.543C>T c.(541-543)GCC>GCT p.A181A ZNRF3_uc003aeh.1_Silent_p.A181A NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 281 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 GCTGTGGGGCCCTGGACACAC 0.577 306 427 --- --- --- --- PASS MCM5 4174 broad.mit.edu 37 22 35802676 35802676 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr22:35802676G>A uc003anu.3 + 5 648 c.554G>A c.(553-555)CGC>CAC p.R185H MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R142H|MCM5_uc010gws.1_5'Flank NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 185 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 ATTGCCATGCGCCCTGGCCTC 0.622 9 102 --- --- --- --- PASS GTPBP1 9567 broad.mit.edu 37 22 39122021 39122021 + Missense_Mutation SNP A T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr22:39122021A>T uc003awg.2 + 7 1238 c.1084A>T c.(1084-1086)ATA>TTA p.I362L NM_004286 NP_004277 O00178 GTPB1_HUMAN GTP binding protein 1 362 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity ovary(1) 1 Melanoma(58;0.04) GATGTGCCCGATATTCCAGAT 0.572 67 705 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67942420 67942420 + Missense_Mutation SNP G T T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chrX:67942420G>T uc004dxa.2 + 11 2863 c.2491G>T c.(2491-2493)GCT>TCT p.A831S STARD8_uc004dxb.2_Missense_Mutation_p.A911S|STARD8_uc004dxc.3_Missense_Mutation_p.A831S NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 831 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 GCTGCGTGATGCTGCTGAGCG 0.647 28 43 --- --- --- --- PASS DCAF12L2 340578 broad.mit.edu 37 X 125299017 125299017 + Missense_Mutation SNP C A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chrX:125299017C>A uc004euk.1 - 1 918 c.891G>T c.(889-891)AGG>AGT p.R297S NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 297 WD 3. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TGGACAGGAGCCTGGATAGTG 0.607 69 113 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125686398 125686398 + Missense_Mutation SNP G A A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chrX:125686398G>A uc004eul.2 - 1 445 c.194C>T c.(193-195)CCC>CTC p.P65L NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 65 skin(3)|ovary(1) 4 GAGCCTGGCGGGGCCCCACCC 0.692 29 27 --- --- --- --- PASS ATP11C 286410 broad.mit.edu 37 X 138878475 138878475 + Missense_Mutation SNP C G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chrX:138878475C>G uc004faz.2 - 12 1271 c.1172G>C c.(1171-1173)GGA>GCA p.G391A ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.G391A NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 391 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) AACCAGGGCTCCTTCATTAAT 0.358 16 10 --- --- --- --- PASS MAGEA12 4111 broad.mit.edu 37 X 151900357 151900357 + Silent SNP A G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chrX:151900357A>G uc010ntp.2 - 3 798 c.444T>C c.(442-444)CCT>CCC p.P148P MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.P148P|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 148 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TGAAGATCACAGGAAAGAAGT 0.512 5 289 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153592742 153592742 + Splice_Site SNP T G G TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chrX:153592742T>G uc004fkk.2 - 14 2272 c.2023_splice c.e14-1 p.V675_splice FLNA_uc010nuu.1_Splice_Site_p.V675_splice NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCTTCACCTAGCGGGAGAC 0.637 66 38 --- --- --- --- PASS MAFA 389692 broad.mit.edu 37 8 144511954 144511959 + In_Frame_Del DEL TGGTGG - - TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5 210f08ab-aef8-4b9e-8866-bb7644e7e8f3 g.chr8:144511954_144511959delTGGTGG uc003yyc.1 - 1 618_623 c.618_623delCCACCA c.(616-624)CACCACCAT>CAT p.206_208HHH>H NM_201589 NP_963883 Q8NHW3 MAFA_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 206_208 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggtggt 0.587 HNSCC(29;0.082) 4 2 --- --- --- ---