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 Unknown 0 broad.mit.edu 37 1 1854086 1854086 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:1854086A>G uc001aik.2 - 10 1608 c.758T>C c.(757-759)GTG>GCG p.V253A uc001ail.2_Missense_Mutation_p.V253A RecName: Full=Uncharacterized protein C1orf222; GCCGCGCTCCACGGAGCCCCT 0.617 6 73 --- --- --- --- PASS GPR153 387509 broad.mit.edu 37 1 6314831 6314831 + Silent SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:6314831C>G uc001amp.1 - 2 395 c.135G>C c.(133-135)CTG>CTC p.L45L NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 45 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) GTGTACACAGCAGGAACTCCA 0.647 13 80 --- --- --- --- PASS PHF13 148479 broad.mit.edu 37 1 6680213 6680213 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:6680213C>T uc001aob.3 + 3 863 c.492C>T c.(490-492)CCC>CCT p.P164P NM_153812 NP_722519 Q86YI8 PHF13_HUMAN PHD finger protein 13 164 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) CCCAGGCTCCCAGCGACCCCT 0.592 8 61 --- --- --- --- PASS SLC2A7 155184 broad.mit.edu 37 1 9086385 9086385 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:9086385C>T uc009vmo.1 - 1 20 c.20G>A c.(19-21)GGA>GAA p.G7E NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN intestinal facilitative glucose transporter 7 7 Cytoplasmic (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity 0 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TGGAGGGGTTCCCGCCTCTTT 0.587 7 17 --- --- --- --- PASS ZMYM6 9204 broad.mit.edu 37 1 35484984 35484984 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:35484984G>A uc001byh.2 - 4 626 c.398C>T c.(397-399)CCT>CTT p.P133L ZMYM6_uc001byf.1_Missense_Mutation_p.P133L|ZMYM6_uc010oht.1_Missense_Mutation_p.P36L|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.P133L|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Missense_Mutation_p.P133L|ZMYM6_uc001byi.2_Missense_Mutation_p.P133L|ZMYM6_uc001byk.2_Missense_Mutation_p.P133L NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 133 MYM-type 1. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TTTCTTGGGAGGAGGTGGCAG 0.403 42 134 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39818705 39818705 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:39818705G>C uc010oiu.1 + 8 6677 c.6546G>C c.(6544-6546)GAG>GAC p.E2182D MACF1_uc010ois.1_Missense_Mutation_p.E1680D|MACF1_uc001cda.1_Missense_Mutation_p.E1588D|MACF1_uc001cdc.1_Missense_Mutation_p.E767D|MACF1_uc001cdb.1_Missense_Mutation_p.E767D NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3747 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AACTGGCAGAGAACAAGAAGA 0.483 9 74 --- --- --- --- PASS CDCP2 200008 broad.mit.edu 37 1 54610287 54610287 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:54610287C>A uc001cwv.1 - 2 1127 c.279G>T c.(277-279)GGG>GGT p.G93G NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 93 CUB 1. extracellular region ovary(1) 1 CTGGTGAGGCCCCATTGTAGA 0.597 11 38 --- --- --- --- PASS CDCP2 200008 broad.mit.edu 37 1 54610288 54610288 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:54610288C>T uc001cwv.1 - 2 1126 c.278G>A c.(277-279)GGG>GAG p.G93E NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 93 CUB 1. extracellular region ovary(1) 1 TGGTGAGGCCCCATTGTAGAT 0.597 11 39 --- --- --- --- PASS NFIA 4774 broad.mit.edu 37 1 61553950 61553950 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:61553950G>C uc001czw.2 + 2 641 c.157G>C c.(157-159)GAG>CAG p.E53Q NFIA_uc001czy.2_Missense_Mutation_p.E45Q|NFIA_uc010oos.1_Missense_Mutation_p.E98Q|NFIA_uc001czv.2_Missense_Mutation_p.E53Q NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 53 CTF/NF-I. DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 AAAAGAAGAAGAGAGAGCCGT 0.473 62 150 --- --- --- --- PASS GADD45A 1647 broad.mit.edu 37 1 68152230 68152230 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:68152230G>T uc001ddz.1 + 3 639 c.344G>T c.(343-345)GGC>GTC p.G115V GADD45A_uc009wbb.1_Missense_Mutation_p.G81V|GADD45A_uc009wbc.1_Intron|GADD45A_uc009wbd.1_Intron NM_001924 NP_001915 P24522 GA45A_HUMAN growth arrest and DNA-damage-inducible, alpha 115 apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage nucleus protein binding ovary(1) 1 GCGAGCGAGGGCGCCGAGCAG 0.706 6 35 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75038770 75038770 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:75038770G>T uc001dgg.2 - 14 2843 c.2624C>A c.(2623-2625)GCT>GAT p.A875D NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 875 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTTTCAGGAGCCTCATCTTT 0.522 123 312 --- --- --- --- PASS USP33 23032 broad.mit.edu 37 1 78194184 78194184 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:78194184C>G uc001dht.2 - 11 1371 c.1024G>C c.(1024-1026)GAT>CAT p.D342H USP33_uc001dhs.2_Missense_Mutation_p.D63H|USP33_uc001dhu.2_Missense_Mutation_p.D311H|USP33_uc001dhv.2_Missense_Mutation_p.D147H|USP33_uc001dhw.2_Missense_Mutation_p.D342H NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 342 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TCATTATTATCTTCAGAAAAG 0.333 29 170 --- --- --- --- PASS IFI44L 10964 broad.mit.edu 37 1 79094042 79094042 + Missense_Mutation SNP C G G rs273258 byFrequency TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:79094042C>G uc010oro.1 + 2 621 c.442C>G c.(442-444)CGT>GGT p.R148G IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 148 cytoplasm 0 TTATGGCCACCGTCAGTATTT 0.303 33 82 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79387408 79387408 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:79387408T>A uc001diq.3 - 9 1303 c.1147A>T c.(1147-1149)AGC>TGC p.S383C NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 383 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GAAGACCAGCTGCCATTCATG 0.418 20 104 --- --- --- --- PASS DRAM2 128338 broad.mit.edu 37 1 111663190 111663190 + Silent SNP G C C rs12408306 TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:111663190G>C uc001ead.3 - 6 722 c.465C>G c.(463-465)GTC>GTG p.V155V DRAM2_uc001eae.3_Silent_p.V155V|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Silent_p.V25V NM_178454 NP_848549 Q6UX65 DRAM2_HUMAN transmembrane protein 77 155 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane 0 TGATCCAGAAGACTTGTTTGC 0.423 11 89 --- --- --- --- PASS KCND3 3752 broad.mit.edu 37 1 112524810 112524810 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:112524810G>A uc001ebu.1 - 2 1019 c.539C>T c.(538-540)ACG>ATG p.T180M KCND3_uc001ebv.1_Missense_Mutation_p.T180M NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 180 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CAGGGCCAGCGTGCTGGTGTG 0.632 7 41 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144855817 144855817 + Nonsense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:144855817C>A uc001elw.3 - 41 7027 c.6736G>T c.(6736-6738)GAG>TAG p.E2246* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.E2140*|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.E1253* NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2246 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAAGCTGACTCCTCTAGGGCA 0.577 T PDGFRB MPD 13 142 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144886319 144886319 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:144886319A>G uc001elw.3 - 23 3206 c.2915T>C c.(2914-2916)GTG>GCG p.V972A NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V1038A|PDE4DIP_uc001elv.3_5'UTR NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 972 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCCAAAGCCACCTTGACAAG 0.443 T PDGFRB MPD 44 447 --- --- --- --- PASS NOTCH2NL 388677 broad.mit.edu 37 1 145273436 145273436 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:145273436G>A uc001emn.3 + 3 660 c.290G>A c.(289-291)GGG>GAG p.G97E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G97E|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G97E|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 97 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 TGTCAAGTCGGGTTTACAGGT 0.463 32 573 --- --- --- --- PASS SF3B4 10262 broad.mit.edu 37 1 149898740 149898740 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:149898740T>C uc001etj.1 - 3 285 c.234A>G c.(232-234)AAA>AAG p.K78K SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Silent_p.K78K|SF3B4_uc009wll.1_Silent_p.K78K NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 78 RRM 1. nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TCCCATAGAGTTTGATCATGT 0.443 34 111 --- --- --- --- PASS TARS2 80222 broad.mit.edu 37 1 150478140 150478140 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:150478140G>C uc001euq.2 + 17 1974 c.1967G>C c.(1966-1968)AGA>ACA p.R656T TARS2_uc001eur.2_Missense_Mutation_p.R574T|TARS2_uc009wlt.2_Missense_Mutation_p.R282T|TARS2_uc009wls.2_Missense_Mutation_p.R526T|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 656 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CTCAGCCGGAGAATCCGCCGG 0.567 33 164 --- --- --- --- PASS PI4KB 5298 broad.mit.edu 37 1 151288358 151288358 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:151288358G>T uc001ext.2 - 2 1015 c.600C>A c.(598-600)CAC>CAA p.H200Q PI4KB_uc001exr.2_Missense_Mutation_p.H212Q|PI4KB_uc001exs.2_Missense_Mutation_p.H200Q|PI4KB_uc001exu.2_Missense_Mutation_p.H200Q|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.H212Q NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 200 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGCGGCAACGGTGGACTATGT 0.517 32 103 --- --- --- --- PASS ZBTB7B 51043 broad.mit.edu 37 1 154987962 154987962 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:154987962G>C uc001fgk.3 + 3 984 c.826G>C c.(826-828)GAG>CAG p.E276Q ZBTB7B_uc009wpa.2_Missense_Mutation_p.E276Q|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E310Q|ZBTB7B_uc010peq.1_Missense_Mutation_p.E310Q|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E276Q NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 276 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTATGAGGGTGAGGAAGAAGA 0.667 6 90 --- --- --- --- PASS DAP3 7818 broad.mit.edu 37 1 155701182 155701182 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:155701182G>A uc001flq.2 + 10 1048 c.879G>A c.(877-879)TTG>TTA p.L293L DAP3_uc001flr.2_Silent_p.L293L|DAP3_uc001fls.2_Silent_p.L293L|DAP3_uc010pgl.1_Silent_p.L252L|DAP3_uc001flt.2_Silent_p.L259L|DAP3_uc001flu.2_Silent_p.L266L|DAP3_uc010pgm.1_Silent_p.L259L NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 293 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TTCACAACTTGAGGAAAATGA 0.378 19 225 --- --- --- --- PASS DAP3 7818 broad.mit.edu 37 1 155701194 155701194 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:155701194G>C uc001flq.2 + 10 1060 c.891G>C c.(889-891)ATG>ATC p.M297I DAP3_uc001flr.2_Missense_Mutation_p.M297I|DAP3_uc001fls.2_Missense_Mutation_p.M297I|DAP3_uc010pgl.1_Missense_Mutation_p.M256I|DAP3_uc001flt.2_Missense_Mutation_p.M263I|DAP3_uc001flu.2_Missense_Mutation_p.M270I|DAP3_uc010pgm.1_Missense_Mutation_p.M263I NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 297 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GGAAAATGATGAAAAATGATT 0.358 12 200 --- --- --- --- PASS DAP3 7818 broad.mit.edu 37 1 155701791 155701791 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:155701791G>A uc001flq.2 + 11 1129 c.960G>A c.(958-960)CGG>CGA p.R320R DAP3_uc001flr.2_Silent_p.R320R|DAP3_uc001fls.2_Silent_p.R320R|DAP3_uc010pgl.1_Silent_p.R279R|DAP3_uc001flt.2_Silent_p.R286R|DAP3_uc001flu.2_Silent_p.R293R|DAP3_uc010pgm.1_Silent_p.R286R NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 320 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TTAAGCCCCGGAAAGCCTATC 0.408 5 38 --- --- --- --- PASS APOA1BP 128240 broad.mit.edu 37 1 156563782 156563782 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:156563782T>C uc001fph.2 + 6 812 c.773T>C c.(772-774)CTG>CCG p.L258P APOA1BP_uc001fpg.2_3'UTR|APOA1BP_uc001fpi.2_Silent_p.P239P|APOA1BP_uc001fpj.2_Missense_Mutation_p.L175P|APOA1BP_uc001fpk.2_Missense_Mutation_p.L155P|APOA1BP_uc010php.1_Missense_Mutation_p.L155P NM_144772 NP_658985 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein precursor 258 YjeF N-terminal. extracellular region protein binding central_nervous_system(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TACCATTACCTGGGGGGTCGT 0.552 66 236 --- --- --- --- PASS OR6N1 128372 broad.mit.edu 37 1 158736259 158736259 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:158736259C>T uc010piq.1 - 1 214 c.214G>A c.(214-216)GGC>AGC p.G72S NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GCTGTATAGCCAAGCTCTGAG 0.488 36 83 --- --- --- --- PASS FMO1 2326 broad.mit.edu 37 1 171251429 171251429 + Silent SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:171251429T>A uc009wvz.2 + 7 1276 c.1140T>A c.(1138-1140)CCT>CCA p.P380P FMO1_uc010pme.1_Silent_p.P317P|FMO1_uc001ghl.2_Silent_p.P380P|FMO1_uc001ghm.2_Silent_p.P380P|FMO1_uc001ghn.2_Silent_p.P380P NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 380 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCATGATACCTACAGGAGAAA 0.483 41 116 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180003168 180003168 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:180003168G>A uc001gnt.2 + 16 4280 c.3897G>A c.(3895-3897)CTG>CTA p.L1299L CEP350_uc009wxl.2_Silent_p.L1298L|CEP350_uc001gnu.2_Silent_p.L1132L NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1299 centrosome|nucleus|spindle ovary(4) 4 TCACTGATCTGAACCCGGCAG 0.403 18 62 --- --- --- --- PASS GLUL 2752 broad.mit.edu 37 1 182356423 182356423 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:182356423C>A uc001gpa.1 - 3 383 c.171G>T c.(169-171)TTG>TTT p.L57F GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.L57F|GLUL_uc001gpc.1_Missense_Mutation_p.L57F|GLUL_uc001gpd.1_Missense_Mutation_p.L57F NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 57 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) TCCACTCAGGCAACTCTGGGG 0.468 32 103 --- --- --- --- PASS CFH 3075 broad.mit.edu 37 1 196646728 196646728 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:196646728A>G uc001gtj.3 + 5 790 c.550A>G c.(550-552)ATT>GTT p.I184V CFH_uc001gti.3_Missense_Mutation_p.I184V|CFH_uc009wyw.2_Missense_Mutation_p.I184V|CFH_uc009wyx.2_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 184 Sushi 3. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AGGCTACAAGATTGAAGGAGA 0.383 68 218 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196883661 196883661 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:196883661C>A uc001gto.2 + 4 545 c.476C>A c.(475-477)GCC>GAC p.A159D CFHR4_uc009wyy.2_Missense_Mutation_p.A405D|CFHR4_uc001gtp.2_Missense_Mutation_p.A406D NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 159 Sushi 3. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 AATTCCAGAGCCAAGAGTAAT 0.383 33 129 --- --- --- --- PASS NAV1 89796 broad.mit.edu 37 1 201682034 201682034 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:201682034C>A uc001gwu.2 + 2 1194 c.847C>A c.(847-849)CAG>AAG p.Q283K NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 283 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 GCGAGGGTCCCAGGTGACTCA 0.622 41 151 --- --- --- --- PASS TIMM17A 10440 broad.mit.edu 37 1 201924671 201924671 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:201924671G>C uc001gxc.2 + 1 53 c.17G>C c.(16-18)CGA>CCA p.R6P NM_006335 NP_006326 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 6 protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity 0 GAGTACGCGCGAGAGCCTTGG 0.632 13 101 --- --- --- --- PASS DSTYK 25778 broad.mit.edu 37 1 205117450 205117450 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:205117450C>G uc001hbw.2 - 12 2549 c.2485G>C c.(2485-2487)GTG>CTG p.V829L DSTYK_uc001hbx.2_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 829 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 TAGACATCCACGGAATTATCG 0.483 21 70 --- --- --- --- PASS PM20D1 148811 broad.mit.edu 37 1 205817012 205817012 + Splice_Site SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:205817012C>T uc001hdj.2 - 2 301 c.256_splice c.e2+1 p.V86_splice PM20D1_uc009xbr.2_Splice_Site NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TTGCAGCTGACCTTTATGAAT 0.433 29 119 --- --- --- --- PASS PM20D1 148811 broad.mit.edu 37 1 205819137 205819137 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:205819137C>T uc001hdj.2 - 1 109 c.64G>A c.(64-66)GTC>ATC p.V22I PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 22 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GATCTGGAGACGGTAGGGAAA 0.607 14 65 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848158 215848158 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:215848158C>A uc001hku.1 - 63 13482 c.13095G>T c.(13093-13095)TGG>TGT p.W4365C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4365 Extracellular (Potential).|Fibronectin type-III 29. 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) CACTGACGGCCCAAAGATCTG 0.483 HNSCC(13;0.011) 26 109 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848159 215848159 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:215848159C>A uc001hku.1 - 63 13481 c.13094G>T c.(13093-13095)TGG>TTG p.W4365L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4365 Extracellular (Potential).|Fibronectin type-III 29. 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) ACTGACGGCCCAAAGATCTGG 0.483 HNSCC(13;0.011) 26 110 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216850834 216850834 + Splice_Site SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:216850834C>T uc001hkw.1 - 2 223 c.57_splice c.e2-1 p.E19_splice ESRRG_uc001hky.1_Splice_Site|ESRRG_uc009xdp.1_Splice_Site|ESRRG_uc001hkz.1_Splice_Site|ESRRG_uc010puc.1_Splice_Site|ESRRG_uc001hla.1_Splice_Site|ESRRG_uc001hlb.1_Splice_Site|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Splice_Site|ESRRG_uc001hld.1_Splice_Site|ESRRG_uc001hkx.1_Splice_Site_p.R24_splice|ESRRG_uc009xdo.1_Splice_Site|ESRRG_uc001hle.1_Splice_Site NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GCAGAGAAGCCTGAGATTGAG 0.284 19 50 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220178660 220178660 + Nonsense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:220178660T>A uc001hly.1 - 16 2263 c.1993A>T c.(1993-1995)AAA>TAA p.K665* EPRS_uc010puf.1_Nonsense_Mutation_p.K416*|EPRS_uc001hlz.1_Nonsense_Mutation_p.K672*|EPRS_uc009xdt.1_Nonsense_Mutation_p.K253* NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 665 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TCTCCTTTTTTCAAATCCTTA 0.338 48 163 --- --- --- --- PASS LEFTY2 7044 broad.mit.edu 37 1 226125443 226125443 + Nonsense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:226125443C>A uc001hpt.1 - 4 879 c.799G>T c.(799-801)GAG>TAG p.E267* LEFTY2_uc010pvk.1_Nonsense_Mutation_p.E233*|LEFTY2_uc009xek.1_3'UTR NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 267 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) ATGTACATCTCCTGGCGGCAG 0.637 13 22 --- --- --- --- PASS CDC42BPA 8476 broad.mit.edu 37 1 227327318 227327318 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:227327318C>A uc001hqr.2 - 10 2292 c.1349G>T c.(1348-1350)CGC>CTC p.R450L CDC42BPA_uc001hqs.2_Missense_Mutation_p.R450L|CDC42BPA_uc009xes.2_Missense_Mutation_p.R450L|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R450L NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 450 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TTGCTCAAGGCGCTTAATTCT 0.358 16 49 --- --- --- --- PASS URB2 9816 broad.mit.edu 37 1 229773946 229773946 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:229773946G>C uc001hts.1 + 4 3722 c.3586G>C c.(3586-3588)GAC>CAC p.D1196H URB2_uc009xfd.1_Missense_Mutation_p.D1196H NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1196 nucleolus central_nervous_system(2)|ovary(1) 3 TCCCAAAAAGGACTCCGTGTT 0.453 54 216 --- --- --- --- PASS ARID4B 51742 broad.mit.edu 37 1 235386562 235386562 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:235386562G>T uc001hwq.2 - 13 1482 c.984C>A c.(982-984)AAC>AAA p.N328K ARID4B_uc001hwr.2_Missense_Mutation_p.N328K|ARID4B_uc001hws.3_Missense_Mutation_p.N328K|ARID4B_uc001hwt.3_Missense_Mutation_p.N9K NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 328 ARID.|Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CAGGTCGTTTGTTAATAGGTG 0.284 17 49 --- --- --- --- PASS HEATR1 55127 broad.mit.edu 37 1 236717960 236717960 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:236717960C>G uc001hyd.1 - 42 6141 c.6016G>C c.(6016-6018)GAT>CAT p.D2006H HEATR1_uc009xgh.1_Missense_Mutation_p.D1168H NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 2006 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGCTGGGTATCAAAAAGGAAG 0.393 4 261 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237789106 237789106 + Splice_Site SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:237789106T>A uc001hyl.1 + 40 6286 c.6166_splice c.e40+2 p.S2056_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAAAGTCCTGTAAGCAGTATG 0.428 15 45 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238053355 238053355 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:238053355C>G uc001hym.2 - 2 297 c.297G>C c.(295-297)TGG>TGC p.W99C LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 99 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCATACTCACCCACTCAGTGA 0.567 61 215 --- --- --- --- PASS C1orf101 257044 broad.mit.edu 37 1 244735962 244735962 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:244735962A>G uc001iam.2 + 11 1897 c.1838A>G c.(1837-1839)TAT>TGT p.Y613C C1orf101_uc001iak.1_Missense_Mutation_p.Y167C|C1orf101_uc001ial.2_Missense_Mutation_p.Y613C|C1orf101_uc010pym.1_Missense_Mutation_p.Y462C|C1orf101_uc010pyn.1_Missense_Mutation_p.Y546C NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 613 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) CAGATCGTCTATCCAGAAAAC 0.393 38 123 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343775 248343775 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:248343775C>T uc010pzf.1 + 1 488 c.488C>T c.(487-489)ACA>ATA p.T163I NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 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;0.0245) GCTGTAGCCACATTTTCCTTC 0.418 109 436 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685164 248685164 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:248685164T>C uc001ien.1 + 1 217 c.217T>C c.(217-219)TTT>CTT p.F73L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGACATCTGCTTTACCACCAG 0.512 45 143 --- --- --- --- PASS OR2T11 127077 broad.mit.edu 37 1 248789685 248789685 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:248789685A>T uc001ier.1 - 1 745 c.745T>A c.(745-747)TAT>AAT p.Y249N NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCAGCCCCATAGAAGATGCTA 0.532 24 60 --- --- --- --- PASS OR2T11 127077 broad.mit.edu 37 1 248789955 248789955 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:248789955T>C uc001ier.1 - 1 475 c.475A>G c.(475-477)ATC>GTC p.I159V NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCATGGTGATGGGAGTGAGC 0.527 33 111 --- --- --- --- PASS OR14I1 401994 broad.mit.edu 37 1 248845000 248845000 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr1:248845000T>C uc001ieu.1 - 1 606 c.606A>G c.(604-606)TCA>TCG p.S202S NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAACCAAGCATGAGCTCAGGG 0.483 28 76 --- --- --- --- PASS ALLC 55821 broad.mit.edu 37 2 3727499 3727499 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:3727499C>A uc010ewt.2 + 5 374 c.213C>A c.(211-213)GTC>GTA p.V71V NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 90 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TCCAAGGAGTCATCCGGGGCT 0.552 HNSCC(21;0.051) 42 159 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11772040 11772040 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:11772040T>A uc002rbk.1 + 27 4917 c.4617T>A c.(4615-4617)CAT>CAA p.H1539Q GREB1_uc002rbp.1_Missense_Mutation_p.H537Q NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1539 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TGCAGAGCCATGAATATATAA 0.303 22 62 --- --- --- --- PASS EPT1 85465 broad.mit.edu 37 2 26597907 26597907 + Splice_Site SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:26597907G>T uc010ykz.1 + 6 721 c.574_splice c.e6-1 p.T192_splice EPT1_uc010eyl.1_Splice_Site NM_033505 NP_277040 Q9C0D9 EPT1_HUMAN selenoprotein I phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding 0 TTTCCTTCCAGACTATTTCTT 0.383 79 256 --- --- --- --- PASS EMILIN1 11117 broad.mit.edu 37 2 27306531 27306531 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:27306531G>C uc002rii.3 + 4 2520 c.2092G>C c.(2092-2094)GAG>CAG p.E698Q EMILIN1_uc002rik.3_5'UTR NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 698 Potential. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGGCCACAGAGCATGCTAC 0.612 31 153 --- --- --- --- PASS SLC5A6 8884 broad.mit.edu 37 2 27426157 27426157 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:27426157C>A uc002rjd.2 - 11 1542 c.1151G>T c.(1150-1152)CGA>CTA p.R384L SLC5A6_uc010eyv.1_Missense_Mutation_p.R384L NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 384 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GAACCAAGGTCGAATCAGGTC 0.478 19 83 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656907 40656907 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:40656907C>G uc002rrx.2 - 1 538 c.514G>C c.(514-516)GTG>CTG p.V172L SLC8A1_uc002rry.2_Missense_Mutation_p.V172L|SLC8A1_uc002rrz.2_Missense_Mutation_p.V172L|SLC8A1_uc002rsa.2_Missense_Mutation_p.V172L|SLC8A1_uc002rsd.3_Missense_Mutation_p.V172L|SLC8A1_uc002rsb.1_Missense_Mutation_p.V172L|SLC8A1_uc010fan.1_Missense_Mutation_p.V172L|SLC8A1_uc002rsc.1_Missense_Mutation_p.V172L NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 172 Alpha-1.|Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCACTTCCCACGATGGTGCTA 0.468 13 133 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60773218 60773218 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:60773218C>T uc002sae.1 - 2 501 c.273G>A c.(271-273)GAG>GAA p.E91E BCL11A_uc002sab.2_Silent_p.E91E|BCL11A_uc002sac.2_Silent_p.E91E|BCL11A_uc010ypi.1_5'UTR|BCL11A_uc010ypj.1_Silent_p.E91E|BCL11A_uc002saf.1_Silent_p.E91E|BCL11A_uc010fcg.2_Silent_p.E91E NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 91 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTTTTTTCATCTCGATTGGTG 0.468 T IGH@ B-CLL 18 183 --- --- --- --- PASS PROKR1 10887 broad.mit.edu 37 2 68873182 68873182 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:68873182G>A uc010yqj.1 + 1 229 c.229G>A c.(229-231)GGC>AGC p.G77S PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 77 Helical; Name=1; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 GCTGGTCTGCGGCATTGGAAA 0.522 81 238 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73678659 73678659 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:73678659G>T uc002sje.1 + 10 5119 c.5008G>T c.(5008-5010)GGG>TGG p.G1670W ALMS1_uc002sjf.1_Missense_Mutation_p.G1626W|ALMS1_uc002sjg.2_Missense_Mutation_p.G1056W|ALMS1_uc002sjh.1_Missense_Mutation_p.G1056W NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1668 24.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CTCAAATAGGGGGAAGCCTGT 0.463 51 180 --- --- --- --- PASS SEMA4F 10505 broad.mit.edu 37 2 74907075 74907075 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:74907075G>T uc002sna.1 + 14 2163 c.2052G>T c.(2050-2052)CAG>CAT p.Q684H SEMA4F_uc010ffr.1_Missense_Mutation_p.Q296H|SEMA4F_uc002snb.1_Missense_Mutation_p.Q296H|SEMA4F_uc002snc.1_Missense_Mutation_p.Q529H NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 684 Cytoplasmic (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTCGGCGTCAGCAGCGACGGC 0.627 30 92 --- --- --- --- PASS SEMA4F 10505 broad.mit.edu 37 2 74907083 74907083 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:74907083G>C uc002sna.1 + 14 2171 c.2060G>C c.(2059-2061)CGG>CCG p.R687P SEMA4F_uc010ffr.1_Missense_Mutation_p.R299P|SEMA4F_uc002snb.1_Missense_Mutation_p.R299P|SEMA4F_uc002snc.1_Missense_Mutation_p.R532P NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 687 Cytoplasmic (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CAGCAGCGACGGCGACAGAGG 0.632 34 100 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79349975 79349975 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:79349975C>A uc002snz.2 + 5 433 c.330C>A c.(328-330)CGC>CGA p.R110R REG1A_uc010ysd.1_Silent_p.R110R NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 110 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 AGAACCGCCGCTGGCACTGGA 0.552 54 185 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80136755 80136755 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:80136755G>T uc010ysh.1 + 6 893 c.888G>T c.(886-888)GAG>GAT p.E296D CTNNA2_uc010yse.1_Missense_Mutation_p.E296D|CTNNA2_uc010ysf.1_Missense_Mutation_p.E296D|CTNNA2_uc010ysg.1_Missense_Mutation_p.E296D NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 296 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CGTTCAGCGAGGCCAGGTTCC 0.587 26 132 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88874543 88874543 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:88874543C>T uc002stc.3 - 13 2660 c.2458G>A c.(2458-2460)GAA>AAA p.E820K NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 820 Cytoplasmic (Potential).|Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TTCGGCTCTTCTTTACTGGAA 0.398 36 317 --- --- --- --- PASS PROM2 150696 broad.mit.edu 37 2 95947943 95947943 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:95947943A>G uc002suh.1 + 14 1830 c.1697A>G c.(1696-1698)TAC>TGC p.Y566C PROM2_uc002sui.2_Missense_Mutation_p.Y566C|PROM2_uc002suj.2_Missense_Mutation_p.Y220C|PROM2_uc002suk.2_Missense_Mutation_p.Y566C|PROM2_uc002sul.2_Missense_Mutation_p.Y92C|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 566 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 AACGACTCCTACGACCTGGAG 0.597 8 34 --- --- --- --- PASS SLC9A4 389015 broad.mit.edu 37 2 103125362 103125362 + Silent SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:103125362A>G uc002tbz.3 + 6 1915 c.1458A>G c.(1456-1458)AAA>AAG p.K486K NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 486 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CCAATAAAAAAGAATCCATCA 0.353 3 181 --- --- --- --- PASS CCDC138 165055 broad.mit.edu 37 2 109429163 109429163 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:109429163A>T uc002ten.1 + 8 992 c.932A>T c.(931-933)CAG>CTG p.Q311L CCDC138_uc002teo.1_Missense_Mutation_p.Q311L|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 311 Potential. 0 GATAATTTACAGGTAAGTTGC 0.318 57 198 --- --- --- --- PASS ANAPC1 64682 broad.mit.edu 37 2 112621316 112621316 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:112621316G>A uc002thi.2 - 9 1235 c.988C>T c.(988-990)CGC>TGC p.R330C NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 330 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GAGGTTGAGCGACTCTGGCTG 0.478 16 136 --- --- --- --- PASS EPB41L5 57669 broad.mit.edu 37 2 120776748 120776748 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:120776748G>A uc002tmg.2 + 2 214 c.88G>A c.(88-90)GCC>ACC p.A30T EPB41L5_uc010flk.2_Missense_Mutation_p.A30T|EPB41L5_uc010fll.2_Missense_Mutation_p.A30T|EPB41L5_uc002tmh.3_Missense_Mutation_p.A30T NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 30 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 ACAACGCGCCGCCACACATAT 0.493 74 426 --- --- --- --- PASS GLI2 2736 broad.mit.edu 37 2 121747649 121747649 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:121747649C>G uc010flp.2 + 13 4189 c.4159C>G c.(4159-4161)CGT>GGT p.R1387G GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.R1059G|GLI2_uc002tmu.3_Missense_Mutation_p.R1042G NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1387 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CCGTGGGGTACGTGCTGTGCA 0.692 5 26 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141110527 141110527 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:141110527G>T uc002tvj.1 - 76 12617 c.11645C>A c.(11644-11646)GCA>GAA p.A3882E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3882 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTACCTTCTGCTATGCAGGT 0.323 TSP Lung(27;0.18) 27 207 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141460034 141460034 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:141460034C>T uc002tvj.1 - 38 7084 c.6112G>A c.(6112-6114)GGA>AGA p.G2038R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2038 Extracellular (Potential).|LDL-receptor class B 21. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATGCTATTCCCATGCTTACA 0.423 TSP Lung(27;0.18) 20 139 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141773277 141773277 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:141773277C>T uc002tvj.1 - 13 3150 c.2178G>A c.(2176-2178)GGG>GGA p.G726G LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 726 Extracellular (Potential).|LDL-receptor class B 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCCTGTGAGTCCCATTCAAAA 0.373 TSP Lung(27;0.18) 7 62 --- --- --- --- PASS IFIH1 64135 broad.mit.edu 37 2 163133387 163133387 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:163133387C>A uc002uce.2 - 11 2336 c.2114G>T c.(2113-2115)AGA>ATA p.R705I NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 705 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 TATGGTATTTCTTAATTTGGT 0.328 112 272 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168100713 168100713 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:168100713T>C uc002udx.2 + 8 2829 c.2811T>C c.(2809-2811)CTT>CTC p.L937L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L762L|XIRP2_uc010fpq.2_Silent_p.L715L|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 762 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAGTGAAACTTGAAGAAGTTG 0.338 13 89 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170042302 170042302 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:170042302G>T uc002ues.2 - 50 9769 c.9556C>A c.(9556-9558)CCA>ACA p.P3186T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3186 EGF-like 12; calcium-binding (Potential).|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) TTTCCATCTGGTTCTCGGAGG 0.413 53 268 --- --- --- --- PASS HAT1 8520 broad.mit.edu 37 2 172822353 172822353 + Nonsense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:172822353C>T uc002uhi.2 + 6 611 c.535C>T c.(535-537)CAG>TAG p.Q179* HAT1_uc010fqi.2_Nonsense_Mutation_p.Q14*|HAT1_uc002uhj.2_Nonsense_Mutation_p.Q94* NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 179 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) TGAAAGGCTTCAGACCTTTTT 0.398 126 318 --- --- --- --- PASS STAT4 6775 broad.mit.edu 37 2 191905825 191905825 + Missense_Mutation SNP T G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:191905825T>G uc002usm.1 - 15 1555 c.1301A>C c.(1300-1302)CAG>CCG p.Q434P STAT4_uc002usn.1_Missense_Mutation_p.Q434P|STAT4_uc010zgk.1_Missense_Mutation_p.Q279P|STAT4_uc002uso.2_Missense_Mutation_p.Q434P NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 434 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GAGGCAGATCTGTGTTTCAAA 0.383 29 163 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196681578 196681578 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:196681578C>A uc002utj.3 - 51 9636 c.9535G>T c.(9535-9537)GCT>TCT p.A3179S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3179 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATCTCATTAGCCAAGGCCTTG 0.398 22 125 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197184089 197184089 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:197184089C>T uc002utm.1 - 9 1708 c.1525G>A c.(1525-1527)GAG>AAG p.E509K HECW2_uc002utl.1_Missense_Mutation_p.E153K NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 509 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GGGTTGTCCTCCAGCTTTGTC 0.522 11 69 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206165365 206165365 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:206165365G>A uc002var.1 + 17 2504 c.2297G>A c.(2296-2298)AGG>AAG p.R766K PARD3B_uc010fub.1_Missense_Mutation_p.R766K|PARD3B_uc002vao.1_Missense_Mutation_p.R766K|PARD3B_uc002vap.1_Missense_Mutation_p.R704K|PARD3B_uc002vaq.1_Intron NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 766 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCCTTTCACAGGCCCCGGCCG 0.522 61 115 --- --- --- --- PASS ADAM23 8745 broad.mit.edu 37 2 207436469 207436469 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:207436469T>C uc002vbq.2 + 17 1808 c.1585T>C c.(1585-1587)TGT>CGT p.C529R ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 529 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGGATTATGCTGTAAGAAATG 0.458 28 96 --- --- --- --- PASS SMARCAL1 50485 broad.mit.edu 37 2 217285226 217285226 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:217285226T>C uc002vgc.3 + 5 1397 c.1067T>C c.(1066-1068)CTT>CCT p.L356P SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.L356P|SMARCAL1_uc010fvg.2_Missense_Mutation_p.L356P NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 356 HARP 2. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CTTATTGCGCTTTTTAAACAG 0.443 Schimke_Immuno-Osseous_Dysplasia 3 134 --- --- --- --- PASS WNT10A 80326 broad.mit.edu 37 2 219754802 219754802 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:219754802G>T uc002vjd.1 + 3 936 c.473G>T c.(472-474)GGC>GTC p.G158V NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, 158 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity lung(1)|skin(1) 2 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGGCCTGTGGCTGTGATGCG 0.632 12 83 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220355204 220355204 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:220355204T>C uc010fwg.2 + 37 8995 c.8995T>C c.(8995-8997)TAT>CAT p.Y2999H NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2999 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GATCGTGCCCTATGCTGCCGA 0.672 17 45 --- --- --- --- PASS NEU2 4759 broad.mit.edu 37 2 233899526 233899526 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:233899526C>G uc010zmn.1 + 2 902 c.902C>G c.(901-903)TCC>TGC p.S301C NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 301 exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCCACACACTCCTGGCAGAGG 0.706 20 50 --- --- --- --- PASS USP40 55230 broad.mit.edu 37 2 234449396 234449396 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:234449396G>C uc010zmr.1 - 9 1115 c.1115C>G c.(1114-1116)CCT>CGT p.P372R USP40_uc010zmt.1_Missense_Mutation_p.P16R NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN ubiquitin thioesterase 40 360 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CTGATCAACAGGAATTAGATT 0.378 23 213 --- --- --- --- PASS UGT1A8 54576 broad.mit.edu 37 2 234526712 234526712 + Missense_Mutation SNP T G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr2:234526712T>G uc002vup.2 + 1 422 c.359T>G c.(358-360)TTT>TGT p.F120C UGT1A8_uc010zmv.1_Missense_Mutation_p.F120C NM_019076 NP_061949 Q9HAW9 UD18_HUMAN UDP glycosyltransferase 1 family, polypeptide A8 120 drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding ovary(2) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTAACTTATTTTTTTCGCAT 0.368 5 334 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 2787353 2787353 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:2787353T>C uc003bpc.2 + 5 551 c.330T>C c.(328-330)GTT>GTC p.V110V CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.V110V NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 110 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GAACAATTGTTAGCAGAGAAG 0.388 3 128 --- --- --- --- PASS ARPP21 10777 broad.mit.edu 37 3 35835264 35835264 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:35835264G>T uc003cgb.2 + 20 2517 c.2253G>T c.(2251-2253)CAG>CAT p.Q751H ARPP21_uc003cga.2_Missense_Mutation_p.Q732H|ARPP21_uc011axy.1_Missense_Mutation_p.Q752H|ARPP21_uc003cgf.2_Missense_Mutation_p.Q587H|ARPP21_uc003cgg.2_Missense_Mutation_p.Q274H NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 751 Gln-rich. cytoplasm nucleic acid binding p.Q751Q(1) ovary(2)|skin(1) 3 TACCTAACCAGGCAGGTCAAG 0.537 16 48 --- --- --- --- PASS MST1 4485 broad.mit.edu 37 3 49723522 49723522 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:49723522G>A uc003cxg.2 - 9 1192 c.1120C>T c.(1120-1122)CGT>TGT p.R374C MST1_uc011bcs.1_Silent_p.G412G|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 360 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTGTACAACGCCGGATCTGG 0.697 3 25 --- --- --- --- PASS PBRM1 55193 broad.mit.edu 37 3 52662986 52662986 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:52662986A>G uc003des.2 - 12 1379 c.1367T>C c.(1366-1368)TTT>TCT p.F456S PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.F456S|PBRM1_uc003der.2_Missense_Mutation_p.F424S|PBRM1_uc003det.2_Missense_Mutation_p.F456S|PBRM1_uc003deu.2_Missense_Mutation_p.F456S|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.F456S|PBRM1_uc010hmk.1_Missense_Mutation_p.F456S|PBRM1_uc003dey.2_Missense_Mutation_p.F456S|PBRM1_uc003dez.1_Missense_Mutation_p.F456S|PBRM1_uc003dfb.1_Missense_Mutation_p.F354S NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 456 Bromo 3. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGCATTTTCAAACATTAAATT 0.338 Mis|N|F|S|D|O clear cell renal carcinoma|breast 30 75 --- --- --- --- PASS SPATA12 353324 broad.mit.edu 37 3 57107973 57107973 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:57107973G>C uc003dij.1 + 2 926 c.251G>C c.(250-252)AGA>ACA p.R84T ARHGEF3_uc003dih.2_Intron NM_181727 NP_859078 Q7Z6I5 SPT12_HUMAN spermatogenesis associated 12 84 0 KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129) ACCTGTCAGAGATATTTACAA 0.532 16 121 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108147662 108147662 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:108147662C>T uc003dxa.1 - 28 3496 c.3439G>A c.(3439-3441)GAG>AAG p.E1147K NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1147 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TCAGCTCTCTCCCTTTCCATC 0.428 69 203 --- --- --- --- PASS TRAT1 50852 broad.mit.edu 37 3 108572722 108572722 + Nonstop_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:108572722T>C uc003dxi.1 + 6 703 c.559T>C c.(559-561)TAG>CAG p.*187Q TRAT1_uc010hpx.1_Nonstop_Mutation_p.*150Q NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 187 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 ACCTATAAACTAGCTGGACCA 0.448 67 222 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109023503 109023503 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:109023503C>G uc003dxo.2 - 7 920 c.673G>C c.(673-675)GTG>CTG p.V225L NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 225 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 CCATGGACCACACACCACCTG 0.502 11 102 --- --- --- --- PASS ATP6V1A 523 broad.mit.edu 37 3 113524309 113524309 + Silent SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:113524309A>G uc003eao.2 + 14 1764 c.1698A>G c.(1696-1698)ACA>ACG p.T566T ATP6V1A_uc011bik.1_Silent_p.T533T NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 566 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 ATAAAATCACATGGTCCATTA 0.383 52 135 --- --- --- --- PASS C3orf30 152405 broad.mit.edu 37 3 118865717 118865717 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:118865717C>A uc003ecb.1 + 1 721 c.681C>A c.(679-681)GAC>GAA p.D227E IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.D227E NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 227 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) TGCAGATTGACAGTGGGTCAT 0.493 51 144 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126749164 126749164 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:126749164G>A uc003ejg.2 + 28 5075 c.5071G>A c.(5071-5073)GCC>ACC p.A1691T PLXNA1_uc003ejh.2_Missense_Mutation_p.A359T NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1714 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CCTGCCGCTGGCCATCAAGTA 0.602 20 120 --- --- --- --- PASS RHO 6010 broad.mit.edu 37 3 129247867 129247867 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:129247867C>A uc003emt.2 + 1 386 c.291C>A c.(289-291)ACC>ACA p.T97T NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 97 Helical; Name=2; (Potential). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CCCTCTACACCTCTCTGCATG 0.587 50 182 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130290018 130290018 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:130290018G>A uc010htl.2 + 6 2789 c.2758G>A c.(2758-2760)GAT>AAT p.D920N NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 920 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TGTGATCACCGATGGGGAATC 0.557 21 83 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138738890 138738890 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:138738890C>A uc003esy.1 - 1 879 c.614G>T c.(613-615)AGT>ATT p.S205I NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 205 Pro-rich. breast(1) 1 TCTCTCTGAACTGGGGTTGGG 0.622 9 87 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170784011 170784011 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:170784011G>C uc003fhh.2 - 32 4309 c.3964C>G c.(3964-3966)CAA>GAA p.Q1322E TNIK_uc003fhi.2_Missense_Mutation_p.Q1267E|TNIK_uc003fhj.2_Missense_Mutation_p.Q1293E|TNIK_uc003fhk.2_Missense_Mutation_p.Q1314E|TNIK_uc003fhl.2_Missense_Mutation_p.Q1238E|TNIK_uc003fhm.2_Missense_Mutation_p.Q1259E|TNIK_uc003fhn.2_Missense_Mutation_p.Q1285E|TNIK_uc003fho.2_Missense_Mutation_p.Q1230E|TNIK_uc003fhg.2_Missense_Mutation_p.Q500E NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1322 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTTAACCTTTGAGCTCGCTTA 0.398 18 141 --- --- --- --- PASS MCCC1 56922 broad.mit.edu 37 3 182733285 182733285 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr3:182733285T>C uc003fle.2 - 19 2256 c.2119A>G c.(2119-2121)AGA>GGA p.R707G MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R590G|MCCC1_uc003flg.2_Missense_Mutation_p.R598G NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 707 Biotinyl-binding. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) GGAGTGTGTCTGTTGGCCTGA 0.443 97 408 --- --- --- --- PASS TMEM175 84286 broad.mit.edu 37 4 941927 941927 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:941927G>T uc003gbq.2 + 3 275 c.177G>T c.(175-177)GAG>GAT p.E59D TMEM175_uc010ibl.1_Missense_Mutation_p.E59D|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbr.2_5'UTR|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_5'UTR|TMEM175_uc003gbt.2_5'UTR|TMEM175_uc003gbv.2_Intron NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 59 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCCACACGGAGATCTCCCCAG 0.607 10 105 --- --- --- --- PASS FGFRL1 53834 broad.mit.edu 37 4 1019001 1019001 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:1019001G>T uc003gce.2 + 7 1542 c.1381G>T c.(1381-1383)GGC>TGC p.G461C FGFRL1_uc003gcf.2_Missense_Mutation_p.G461C|FGFRL1_uc003gcg.2_Missense_Mutation_p.G461C|FGFRL1_uc010ibo.2_Missense_Mutation_p.G461C NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 461 Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCACTTACTGGGCCCAGGCCC 0.498 8 18 --- --- --- --- PASS D4S234E 27065 broad.mit.edu 37 4 4419139 4419139 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:4419139G>A uc011bvz.1 + 8 1816 c.535G>A c.(535-537)GAA>AAA p.E179K D4S234E_uc011bwa.1_Missense_Mutation_p.E140K|D4S234E_uc003ghz.2_Missense_Mutation_p.E179K|D4S234E_uc003gia.2_Missense_Mutation_p.E179K|D4S234E_uc003gib.2_Missense_Mutation_p.E179K NM_014392 NP_055207 P42857 NSG1_HUMAN brain neuron cytoplasmic protein 1 179 Lumenal (Potential). dopamine receptor signaling pathway Golgi membrane|integral to membrane|nucleus dopamine receptor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) GCAGGAGACTGAAGCGGCTGA 0.478 14 118 --- --- --- --- PASS SH3TC1 54436 broad.mit.edu 37 4 8229143 8229143 + Silent SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:8229143C>G uc003gkv.3 + 12 1823 c.1722C>G c.(1720-1722)CTC>CTG p.L574L SH3TC1_uc003gkw.3_Silent_p.L498L|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 574 TPR 1. binding large_intestine(2)|pancreas(1) 3 GCAGGAGGCTCAAGCTGTCCC 0.692 3 120 --- --- --- --- PASS WDR19 57728 broad.mit.edu 37 4 39274621 39274621 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:39274621C>G uc003gtv.2 + 32 3659 c.3505C>G c.(3505-3507)CAC>GAC p.H1169D WDR19_uc011byi.1_Missense_Mutation_p.H1009D|WDR19_uc003gtw.1_Missense_Mutation_p.H766D NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1169 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AAATGGAGATCACATGAAAGG 0.423 4 15 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42895560 42895560 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:42895560G>C uc003gwt.2 + 1 277 c.277G>C c.(277-279)GGT>CGT p.G93R NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 93 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 GAAGGGTTTTGGTACAAGAAG 0.448 27 159 --- --- --- --- PASS TMPRSS11D 9407 broad.mit.edu 37 4 68704024 68704024 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:68704024G>T uc003hdq.2 - 5 406 c.341C>A c.(340-342)GCG>GAG p.A114E LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_5'UTR NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 114 SEA.|Extracellular (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GACAACATCCGCTCTCACACC 0.313 26 87 --- --- --- --- PASS PF4 5196 broad.mit.edu 37 4 74846927 74846927 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:74846927C>G uc003hhi.2 - 3 345 c.300G>C c.(298-300)GAG>GAC p.E100D NM_002619 NP_002610 P02776 PLF4_HUMAN platelet factor 4 (chemokine (C-X-C motif) 100 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding 0 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) GTAGCTAACTCTCCAAAAGTT 0.398 11 64 --- --- --- --- PASS CCDC158 339965 broad.mit.edu 37 4 77305543 77305543 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:77305543C>A uc003hkb.3 - 5 577 c.424G>T c.(424-426)GAT>TAT p.D142Y CCDC158_uc003hkd.2_Missense_Mutation_p.D142Y NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 142 Potential. skin(3)|ovary(2)|pancreas(1) 6 TTTCTTAAATCCTCCTGGGAC 0.353 32 135 --- --- --- --- PASS CCDC158 339965 broad.mit.edu 37 4 77305544 77305544 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:77305544C>T uc003hkb.3 - 5 576 c.423G>A c.(421-423)GAG>GAA p.E141E CCDC158_uc003hkd.2_Silent_p.E141E NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 141 Potential. skin(3)|ovary(2)|pancreas(1) 6 TTCTTAAATCCTCCTGGGACT 0.353 31 132 --- --- --- --- PASS THAP9 79725 broad.mit.edu 37 4 83839905 83839905 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:83839905G>C uc003hnt.2 + 5 2659 c.2540G>C c.(2539-2541)AGA>ACA p.R847T THAP9_uc003hns.1_Missense_Mutation_p.R703T|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.R564T NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 847 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) TTAAATATCAGAGCTAAAAAT 0.323 13 136 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85638146 85638146 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:85638146C>G uc003hpd.2 - 49 8186 c.7778G>C c.(7777-7779)AGA>ACA p.R2593T WDFY3_uc003hpe.1_Missense_Mutation_p.R204T NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2593 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CCTGGCTCCTCTAGGAATAAT 0.418 41 175 --- --- --- --- PASS HERC5 51191 broad.mit.edu 37 4 89400577 89400577 + Nonsense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:89400577C>A uc003hrt.2 + 13 1809 c.1656C>A c.(1654-1656)TGC>TGA p.C552* HERC5_uc011cdm.1_Nonsense_Mutation_p.C190* NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 552 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CCGTCATATGCCAGTTGGATT 0.418 36 121 --- --- --- --- PASS HERC5 51191 broad.mit.edu 37 4 89427028 89427028 + Nonstop_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:89427028G>T uc003hrt.2 + 23 3227 c.3074G>T c.(3073-3075)TGA>TTA p.*1025L HERC5_uc011cdm.1_Nonstop_Mutation_p.*663L NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 1025 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GGATTTGGCTGACCAGCTTgc 0.234 9 29 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94690534 94690534 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:94690534C>G uc011cdt.1 + 15 2792 c.2534C>G c.(2533-2535)TCC>TGC p.S845C GRID2_uc011cdu.1_Missense_Mutation_p.S750C NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 845 Helical; (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTGTCCTCTCCTGCTTCATA 0.498 9 123 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114120187 114120187 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:114120187C>G uc003ibe.3 + 4 406 c.306C>G c.(304-306)CAC>CAG p.H102Q ANK2_uc003ibd.3_Missense_Mutation_p.H81Q|ANK2_uc003ibf.3_Missense_Mutation_p.H102Q|ANK2_uc003ibc.2_Missense_Mutation_p.H78Q|ANK2_uc011cgb.1_Missense_Mutation_p.H117Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 102 ANK 3. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCGCTCTTCACATTGCATCTT 0.373 26 107 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115858639 115858639 + Missense_Mutation SNP G C C rs139847624 byFrequency TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:115858639G>C uc003ibu.2 - 5 1921 c.1242C>G c.(1240-1242)AAC>AAG p.N414K NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 414 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CATAGCCCATGTTGATTGGTA 0.418 27 87 --- --- --- --- PASS MYOZ2 51778 broad.mit.edu 37 4 120107146 120107146 + Nonsense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:120107146G>T uc003icp.3 + 6 799 c.586G>T c.(586-588)GAA>TAA p.E196* NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN myozenin 2 196 protein phosphatase 2B binding 0 TGGAGGTTTTGAAAAAGCATC 0.323 52 131 --- --- --- --- PASS TNIP3 79931 broad.mit.edu 37 4 122068292 122068292 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:122068292G>A uc010ing.2 - 7 843 c.647C>T c.(646-648)TCG>TTG p.S216L TNIP3_uc010inh.2_Missense_Mutation_p.S216L|TNIP3_uc011cgj.1_Missense_Mutation_p.S274L NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 216 Potential. ovary(1) 1 CTCTCGATCCGATCGTTCCTT 0.378 28 223 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126240599 126240599 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:126240599G>T uc003ifj.3 + 1 3033 c.3033G>T c.(3031-3033)GTG>GTT p.V1011V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1011 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAGAACCTGTGAATTCTCGAT 0.388 73 246 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134072210 134072210 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:134072210G>T uc003iha.2 + 1 1741 c.915G>T c.(913-915)CCG>CCT p.P305P uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P305P NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 305 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GACTCTCGCCGCGCACTGGCA 0.637 24 75 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134084205 134084205 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:134084205T>C uc003iha.2 + 4 3697 c.2871T>C c.(2869-2871)TCT>TCC p.S957S NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 957 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GGATGCCTTCTTTTGTCCCTT 0.493 33 148 --- --- --- --- PASS FGB 2244 broad.mit.edu 37 4 155488788 155488788 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:155488788G>T uc003ioa.3 + 4 573 c.534G>T c.(532-534)AAG>AAT p.K178N FGB_uc003iob.3_Missense_Mutation_p.K175N|FGB_uc010ipv.2_Missense_Mutation_p.K116N|FGB_uc010ipw.2_Missense_Mutation_p.K175N|FGB_uc003ioc.3_5'UTR NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 178 Potential. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AACTGGAAAAGCACCAATTAT 0.333 29 171 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158284166 158284166 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:158284166C>T uc003ipm.3 + 15 3081 c.2622C>T c.(2620-2622)AAC>AAT p.N874N GRIA2_uc011cit.1_Silent_p.N827N|GRIA2_uc003ipl.3_Silent_p.N874N|GRIA2_uc003ipk.3_Silent_p.N827N|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 874 Cytoplasmic (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) AAGGTTACAACGTATATGGCA 0.408 65 261 --- --- --- --- PASS NAF1 92345 broad.mit.edu 37 4 164050477 164050477 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:164050477G>C uc003iqj.2 - 8 1251 c.1057C>G c.(1057-1059)CAG>GAG p.Q353E NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 353 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) TTCCAATTCTGATGTACTTCA 0.368 14 99 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169197313 169197313 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr4:169197313T>A uc003irp.2 - 15 2290 c.1998A>T c.(1996-1998)TTA>TTT p.L666F NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 666 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CAGCTATACTTAAATCTTTCG 0.318 31 120 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5200358 5200358 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:5200358G>A uc003jdl.2 + 9 1565 c.1427G>A c.(1426-1428)CGC>CAC p.R476H ADAMTS16_uc003jdk.1_Missense_Mutation_p.R476H|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R476H NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 476 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CCCTGCAGCCGCCAGTATCTA 0.512 32 90 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11397307 11397307 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:11397307G>T uc003jfa.1 - 6 593 c.448C>A c.(448-450)CTG>ATG p.L150M CTNND2_uc010itt.2_Missense_Mutation_p.L59M|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Translation_Start_Site|CTNND2_uc010itu.1_Intron NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 150 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGGGAGAGCAGGCTGGGCCCT 0.488 21 71 --- --- --- --- PASS ANKH 56172 broad.mit.edu 37 5 14871536 14871536 + Silent SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:14871536G>C uc003jfm.3 - 1 352 c.21C>G c.(19-21)CTC>CTG p.L7L NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 7 Cytoplasmic (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 AGTAGTGCGTGAGCGCCGGGA 0.602 7 34 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16758264 16758264 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:16758264C>T uc003jft.3 - 18 2279 c.1811G>A c.(1810-1812)AGC>AAC p.S604N MYO10_uc010itx.2_Missense_Mutation_p.S227N NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 604 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CCGATGTTTGCTTCCACATTT 0.443 39 109 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26915968 26915968 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:26915968C>A uc003jgs.1 - 3 462 c.293G>T c.(292-294)GGC>GTC p.G98V CDH9_uc010iug.2_Missense_Mutation_p.G98V NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 98 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G98C(1) ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AAATAGACTGCCAGCCCCATC 0.363 65 275 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26915969 26915969 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:26915969C>G uc003jgs.1 - 3 461 c.292G>C c.(292-294)GGC>CGC p.G98R CDH9_uc010iug.2_Missense_Mutation_p.G98R NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 98 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G98C(1) ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AATAGACTGCCAGCCCCATCT 0.363 66 275 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33937066 33937066 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:33937066C>T uc003jic.1 + 1 578 c.221C>T c.(220-222)GCG>GTG p.A74V NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 74 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GCAGAGAGCGCGGACACAGAG 0.692 13 83 --- --- --- --- PASS RAI14 26064 broad.mit.edu 37 5 34818921 34818921 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:34818921G>A uc003jir.2 + 13 1155 c.959G>A c.(958-960)CGA>CAA p.R320Q RAI14_uc010iur.2_Missense_Mutation_p.R291Q|RAI14_uc011coj.1_Missense_Mutation_p.R320Q|RAI14_uc010ius.1_Missense_Mutation_p.R249Q|RAI14_uc003jis.2_Missense_Mutation_p.R323Q|RAI14_uc003jit.2_Missense_Mutation_p.R320Q|RAI14_uc011cok.1_Missense_Mutation_p.R312Q NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 320 cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) AGTTCTATACGAGAAAACAAA 0.328 22 150 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41065440 41065440 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:41065440G>T uc003jmj.3 - 4 844 c.354C>A c.(352-354)ACC>ACA p.T118T NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 118 binding ovary(6)|central_nervous_system(2) 8 TACCATAGCTGGTTGCCAATT 0.408 10 43 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41160380 41160380 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:41160380G>A uc003jmk.2 - 11 1758 c.1548C>T c.(1546-1548)GCC>GCT p.A516A C6_uc003jml.1_Silent_p.A516A NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 516 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GATCGAACTTGGCTGCATACT 0.517 54 147 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256368 63256368 + Silent SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:63256368A>T uc011cqt.1 - 1 1179 c.1179T>A c.(1177-1179)TCT>TCA p.S393S NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 393 Helical; Name=7; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGTTAAGCAGAGAGTTGGAGT 0.502 39 411 --- --- --- --- PASS SLC30A5 64924 broad.mit.edu 37 5 68419159 68419159 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:68419159C>A uc003jvh.2 + 14 2106 c.1905C>A c.(1903-1905)CTC>CTA p.L635L SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Silent_p.L364L|SLC30A5_uc003jvi.2_Silent_p.L464L NM_022902 NP_075053 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), 635 Helical; (Potential). cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity central_nervous_system(1) 1 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TAATATTTCTCAGTGTTGTTC 0.393 21 135 --- --- --- --- PASS COL4A3BP 10087 broad.mit.edu 37 5 74696088 74696088 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:74696088G>A uc011csu.1 - 10 1474 c.1052C>T c.(1051-1053)ACA>ATA p.T351I COL4A3BP_uc003kds.2_Missense_Mutation_p.T351I|COL4A3BP_uc003kdt.2_Missense_Mutation_p.T479I|COL4A3BP_uc003kdu.2_Missense_Mutation_p.T351I NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 351 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) GGGCAAGGATGTAGGCCAATG 0.358 15 37 --- --- --- --- PASS PAPD4 167153 broad.mit.edu 37 5 78952809 78952809 + Silent SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:78952809C>G uc010jae.1 + 12 1474 c.1056C>G c.(1054-1056)CTC>CTG p.L352L PAPD4_uc003kgb.2_Silent_p.L352L|PAPD4_uc010jaf.1_Silent_p.L352L|PAPD4_uc003kga.2_Silent_p.L348L|PAPD4_uc003kfz.2_Silent_p.L309L NM_001114393 NP_001107865 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 352 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity ovary(1) 1 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) TTCCATCCCTCCAAAAAATTT 0.294 24 130 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90024634 90024634 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:90024634G>T uc003kju.2 + 49 10406 c.10310G>T c.(10309-10311)TGG>TTG p.W3437L GPR98_uc003kjt.2_Missense_Mutation_p.W1143L|GPR98_uc003kjv.2_Missense_Mutation_p.W1037L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3437 EAR 4.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTATTCAGATGGTCTGGCAGT 0.473 50 62 --- --- --- --- PASS FER 2241 broad.mit.edu 37 5 108207797 108207797 + Silent SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:108207797A>T uc003kop.1 + 8 1191 c.807A>T c.(805-807)ACA>ACT p.T269T FER_uc011cvf.1_RNA|FER_uc011cvg.1_Silent_p.T94T NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 269 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TTACTAGAACAACGGCTGCTA 0.303 14 35 --- --- --- --- PASS MYOT 9499 broad.mit.edu 37 5 137222564 137222564 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:137222564A>G uc011cye.1 + 9 1219 c.1202A>G c.(1201-1203)GAT>GGT p.D401G PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.2_5'Flank|PKD2L2_uc003lby.2_5'Flank|MYOT_uc003lbv.2_Missense_Mutation_p.D401G|MYOT_uc011cyg.1_Missense_Mutation_p.D217G|MYOT_uc011cyh.1_Missense_Mutation_p.D286G NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 401 Necessary for interaction with ACTA1.|Ig-like C2-type 2.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTATATCAAGATAACACTGGA 0.343 19 57 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140590583 140590583 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:140590583C>T uc003liz.2 + 1 2293 c.2104C>T c.(2104-2106)CTC>TTC p.L702F PCDHB12_uc011dak.1_Missense_Mutation_p.L365F|PCDHB13_uc003lja.1_5'Flank NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 702 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCGCTCTTCCTCTTCTCGGT 0.706 53 126 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140723766 140723766 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:140723766C>A uc003ljm.1 + 1 166 c.166C>A c.(166-168)CCC>ACC p.P56T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.P56T NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 56 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCTAGAGCCCCGGGAGCT 0.607 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 140 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140723767 140723767 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:140723767C>A uc003ljm.1 + 1 167 c.167C>A c.(166-168)CCC>CAC p.P56H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.P56H NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 56 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTAGAGCCCCGGGAGCTG 0.607 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 139 --- --- --- --- PASS HTR4 3360 broad.mit.edu 37 5 147889143 147889143 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:147889143A>G uc003lpn.2 - 6 1116 c.952T>C c.(952-954)TCT>CCT p.S318P HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.S318P|HTR4_uc003lpj.1_Missense_Mutation_p.S318P|HTR4_uc003lpk.2_Missense_Mutation_p.S318P|HTR4_uc011dby.1_Missense_Mutation_p.S318P|HTR4_uc003lpl.2_Missense_Mutation_p.S332P|HTR4_uc003lpm.2_Missense_Mutation_p.S318P|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.S318P NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 318 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CGTCTAAAAGACTTATTCAAG 0.502 6 83 --- --- --- --- PASS SH3TC2 79628 broad.mit.edu 37 5 148411217 148411217 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:148411217C>G uc003lpu.2 - 9 1187 c.1035G>C c.(1033-1035)GAG>GAC p.E345D SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.E338D|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E230D NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 345 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGCATCTCTCCTCATCAC 0.522 25 56 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169138961 169138961 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:169138961T>A uc003maf.2 + 16 1585 c.1505T>A c.(1504-1506)ATG>AAG p.M502K DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.C29S|DOCK2_uc010jjl.1_Missense_Mutation_p.M20K NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 502 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTGAAGACATGCAGAGGATC 0.517 74 122 --- --- --- --- PASS BTNL9 153579 broad.mit.edu 37 5 180482998 180482998 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr5:180482998G>T uc003mmt.2 + 9 1169 c.938G>T c.(937-939)CGG>CTG p.R313L NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 313 Cytoplasmic (Potential).|B30.2/SPRY.|Potential. integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACTGGAGACGGGCTGAAGGC 0.537 61 143 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12124417 12124417 + Silent SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:12124417A>G uc003nac.2 + 4 4568 c.4389A>G c.(4387-4389)CCA>CCG p.P1463P HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1463 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ATGCAGTGCCATATCAGGGGC 0.438 35 129 --- --- --- --- PASS PHACTR1 221692 broad.mit.edu 37 6 12718981 12718981 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:12718981A>G uc010jpc.2 + 3 337 c.5A>G c.(4-6)GAT>GGT p.D2G PHACTR1_uc011dir.1_Missense_Mutation_p.D2G|PHACTR1_uc003nag.1_Missense_Mutation_p.D2G|PHACTR1_uc003nah.1_Missense_Mutation_p.D2G|PHACTR1_uc003nai.2_Missense_Mutation_p.D2G NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 2 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TCAAGGATGGATTATCCCAAA 0.373 2 11 --- --- --- --- PASS NRSN1 140767 broad.mit.edu 37 6 24145808 24145808 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:24145808C>A uc010jpq.1 + 4 459 c.222C>A c.(220-222)ATC>ATA p.I74I NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 74 Helical; (Potential). nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 TTTTTGTGATCCTCGGATTGA 0.512 22 163 --- --- --- --- PASS NRSN1 140767 broad.mit.edu 37 6 24145809 24145809 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:24145809C>A uc010jpq.1 + 4 460 c.223C>A c.(223-225)CTC>ATC p.L75I NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 75 Helical; (Potential). nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 TTTTGTGATCCTCGGATTGAC 0.512 20 165 --- --- --- --- PASS PRSS16 10279 broad.mit.edu 37 6 27215710 27215710 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:27215710C>A uc003nja.2 + 2 132 c.120C>A c.(118-120)AGC>AGA p.S40R PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.S40R|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank|PRSS16_uc003njc.1_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 40 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 TTCAGGAGAGCTCTGCCCAGG 0.637 12 74 --- --- --- --- PASS ZNF165 7718 broad.mit.edu 37 6 28056825 28056825 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:28056825G>T uc003nkg.2 + 5 2119 c.1035G>T c.(1033-1035)CAG>CAT p.Q345H ZNF165_uc003nkh.2_Missense_Mutation_p.Q345H|ZNF165_uc003nki.3_Missense_Mutation_p.Q345H|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 345 C2H2-type 2. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AAACTCATCAGTGTAATGAAT 0.388 10 85 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28294523 28294523 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:28294523G>C uc003nla.2 - 4 1041 c.641C>G c.(640-642)TCT>TGT p.S214C ZNF323_uc003nld.2_Missense_Mutation_p.S214C|ZNF323_uc010jra.2_Missense_Mutation_p.S214C|ZNF323_uc003nlb.2_Missense_Mutation_p.S55C|ZNF323_uc010jrb.2_Missense_Mutation_p.S55C|ZNF323_uc003nlc.2_Missense_Mutation_p.S214C NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 214 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TCTGTACTTAGAATCCAAAGA 0.433 38 169 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28295160 28295160 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:28295160C>A uc003nla.2 - 3 932 c.532G>T c.(532-534)GAT>TAT p.D178Y ZNF323_uc003nld.2_Missense_Mutation_p.D178Y|ZNF323_uc010jra.2_Missense_Mutation_p.D178Y|ZNF323_uc003nlb.2_Missense_Mutation_p.D19Y|ZNF323_uc010jrb.2_Missense_Mutation_p.D19Y|ZNF323_uc003nlc.2_Missense_Mutation_p.D178Y NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 178 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AAATCCTTACCTTGTTCTTGA 0.328 29 193 --- --- --- --- PASS OR11A1 26531 broad.mit.edu 37 6 29395345 29395345 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:29395345A>G uc003nmg.2 - 1 165 c.74T>C c.(73-75)CTG>CCG p.L25P NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAAGAAATGCAGTTCAGGGAT 0.418 14 80 --- --- --- --- PASS RING1 6015 broad.mit.edu 37 6 33179559 33179559 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:33179559C>G uc003odk.2 + 6 1093 c.899C>G c.(898-900)GCC>GGC p.A300G RING1_uc003odl.2_Missense_Mutation_p.A271G NM_002931 NP_002922 Q06587 RING1_HUMAN ring finger protein 1 300 Necessary for interaction with CBX2 (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding ovary(1)|skin(1) 2 AAGTACTTGGCCCTGCGCATT 0.627 31 209 --- --- --- --- PASS GRM4 2914 broad.mit.edu 37 6 34008084 34008084 + Silent SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:34008084T>A uc003oir.3 - 7 1547 c.1377A>T c.(1375-1377)GCA>GCT p.A459A GRM4_uc011dsn.1_Silent_p.A412A|GRM4_uc010jvh.2_Silent_p.A459A|GRM4_uc010jvi.2_Silent_p.A151A|GRM4_uc003oio.2_Silent_p.A151A|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.A319A|GRM4_uc003oiq.2_Silent_p.A326A|GRM4_uc011dsm.1_Silent_p.A290A NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 459 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CAGGGTTCCCTGCGATGCCTG 0.567 23 172 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54806713 54806713 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:54806713A>G uc003pck.2 + 5 3060 c.2944A>G c.(2944-2946)AAC>GAC p.N982D NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 982 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) GCTTAATTACAACACTGGTGT 0.363 11 106 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75843650 75843650 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:75843650C>A uc003phs.2 - 33 5754 c.5588G>T c.(5587-5589)CGC>CTC p.R1863L COL12A1_uc003pht.2_Missense_Mutation_p.R699L NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1863 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ATGGTCCCAGCGGACATTCAA 0.448 7 58 --- --- --- --- PASS RARS2 57038 broad.mit.edu 37 6 88255364 88255364 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:88255364T>A uc003pme.2 - 7 565 c.505A>T c.(505-507)AAT>TAT p.N169Y RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_Intron|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 169 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) CCAAGGTAATTTATTCTTATT 0.284 50 207 --- --- --- --- PASS C6orf203 51250 broad.mit.edu 37 6 107361404 107361404 + Missense_Mutation SNP T G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:107361404T>G uc003prq.2 + 2 521 c.440T>G c.(439-441)GTC>GGC p.V147G C6orf203_uc011eaj.1_Missense_Mutation_p.V152G|C6orf203_uc010kde.2_Missense_Mutation_p.V147G NM_016487 NP_057571 Q9P0P8 CF203_HUMAN hypothetical protein LOC51250 isoform a 147 0 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) TATGATGTTGTCCTGAAGACG 0.388 14 87 --- --- --- --- PASS C6orf186 728464 broad.mit.edu 37 6 110644054 110644054 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:110644054G>T uc010kdu.1 - 2 340 c.340C>A c.(340-342)CTC>ATC p.L114I C6orf186_uc003pub.2_5'UTR NM_001123364 NP_001116836 Q5JXM2 CF186_HUMAN chromosome 6 open reading frame 186 precursor 114 extracellular region 0 CAAGGCTGGAGATCTATATGC 0.522 15 72 --- --- --- --- PASS RFPL4B 442247 broad.mit.edu 37 6 112671478 112671478 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:112671478C>G uc003pvx.1 + 3 880 c.568C>G c.(568-570)CAT>GAT p.H190D NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 190 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) AGGAGCAATCCATGCTAACAC 0.512 20 81 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117245953 117245953 + Silent SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:117245953A>G uc003pxm.2 + 15 1740 c.1677A>G c.(1675-1677)TCA>TCG p.S559S NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 559 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TGAAGAATTCAGGTAACTTAA 0.308 18 96 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 131973776 131973776 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:131973776T>C uc003qcu.3 + 5 719 c.372T>C c.(370-372)GAT>GAC p.D124D ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Silent_p.D90D|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.D124D NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 124 Extracellular (Potential).|SMB 2. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AGAGGAAAGATTGCTGTGCTG 0.458 30 123 --- --- --- --- PASS EPM2A 7957 broad.mit.edu 37 6 145948803 145948803 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:145948803C>A uc003qkw.2 - 4 1102 c.745G>T c.(745-747)GTG>TTG p.V249L EPM2A_uc003qkv.2_Missense_Mutation_p.V249L|EPM2A_uc010khr.2_Missense_Mutation_p.G168V|EPM2A_uc003qkx.2_Missense_Mutation_p.V111L|EPM2A_uc003qku.2_Missense_Mutation_p.V95L NM_005670 NP_005661 O95278 EPM2A_HUMAN laforin isoform a 249 Tyrosine-protein phosphatase. glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) AGCAGGCACACCGCCTGGGGC 0.632 10 39 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146755509 146755509 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:146755509C>A uc010khw.1 + 9 3632 c.3162C>A c.(3160-3162)GGC>GGA p.G1054G GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1054 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TGCTGGCAGGCCCCGGTGGTC 0.667 11 40 --- --- --- --- PASS RAB32 10981 broad.mit.edu 37 6 146870741 146870741 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:146870741C>T uc003qln.1 + 2 572 c.392C>T c.(391-393)CCA>CTA p.P131L NM_006834 NP_006825 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 131 protein transport|small GTPase mediated signal transduction mitochondrion GTP binding 0 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) GTTCATCTTCCAAATGGCAGC 0.433 24 121 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 160998304 160998304 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:160998304C>A uc003qtl.2 - 29 4615 c.4495G>T c.(4495-4497)GTC>TTC p.V1499F NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4007 Kringle 36. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CAATCCTGGACCACAGGGCTT 0.428 21 146 --- --- --- --- PASS PLG 5340 broad.mit.edu 37 6 161139397 161139397 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr6:161139397G>C uc003qtm.3 + 8 922 c.859G>C c.(859-861)GTG>CTG p.V287L NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 287 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCGCGGGAATGTGGCTGTTAC 0.512 33 151 --- --- --- --- PASS GLCCI1 113263 broad.mit.edu 37 7 8125922 8125922 + Silent SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:8125922A>T uc003srk.2 + 8 1957 c.1398A>T c.(1396-1398)CTA>CTT p.L466L NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 466 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TAAAACTTCTAGGCCCCCTCT 0.507 139 498 --- --- --- --- PASS MACC1 346389 broad.mit.edu 37 7 20198137 20198137 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:20198137A>G uc003sus.3 - 5 2156 c.1847T>C c.(1846-1848)GTG>GCG p.V616A MACC1_uc010kug.2_Missense_Mutation_p.V616A NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 616 SH3. positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 CTTTGAAATCACCTTGACATT 0.363 99 322 --- --- --- --- PASS EVX1 2128 broad.mit.edu 37 7 27282757 27282757 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:27282757G>T uc003szd.1 + 1 594 c.108G>T c.(106-108)CCG>CCT p.P36P EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.P36P NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 36 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GCCCGCTGCCGGAGCCGCCCG 0.682 5 8 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31125012 31125012 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:31125012G>T uc003tca.1 + 9 847 c.624G>T c.(622-624)TGG>TGT p.W208C ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.W187C|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.W208C|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.W208C|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.W208C|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 208 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 TCAAAGACTGGATTCTGTATG 0.547 47 159 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31682967 31682967 + Silent SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:31682967A>G uc003tcj.1 + 11 2976 c.1983A>G c.(1981-1983)GAA>GAG p.E661E CCDC129_uc011kad.1_Silent_p.E671E|CCDC129_uc003tci.1_Silent_p.E512E|CCDC129_uc011kae.1_Silent_p.E687E|CCDC129_uc003tck.1_Silent_p.E569E NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 661 0 AAACATCTGAAAAGCTCATTC 0.488 24 90 --- --- --- --- PASS NPSR1 387129 broad.mit.edu 37 7 34851423 34851423 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:34851423C>T uc003teg.1 + 4 554 c.426C>T c.(424-426)CTC>CTT p.L142L AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.L142L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.L142L|NPSR1_uc010kww.1_Silent_p.L131L|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 142 Helical; Name=3; (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) TGGTGTCCCTCAGCATAGACA 0.483 31 259 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48349667 48349667 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:48349667C>G uc003toq.2 + 24 9470 c.9445C>G c.(9445-9447)CCA>GCA p.P3149A ABCA13_uc010kys.1_Missense_Mutation_p.P223A|ABCA13_uc003tos.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3149 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTGTAGCCTGCCAGGGTCAAA 0.488 80 312 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48349668 48349668 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:48349668C>A uc003toq.2 + 24 9471 c.9446C>A c.(9445-9447)CCA>CAA p.P3149Q ABCA13_uc010kys.1_Missense_Mutation_p.P223Q|ABCA13_uc003tos.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3149 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGTAGCCTGCCAGGGTCAAAA 0.493 82 313 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48450198 48450198 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:48450198G>T uc003toq.2 + 40 12177 c.12152G>T c.(12151-12153)AGG>ATG p.R4051M ABCA13_uc010kys.1_Missense_Mutation_p.R1125M|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4051 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CAGCATGGGAGGCTCAGGTGC 0.602 66 188 --- --- --- --- PASS ZNF117 51351 broad.mit.edu 37 7 64438970 64438970 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:64438970G>A uc003ttr.2 - 4 2264 c.979C>T c.(979-981)CAT>TAT p.H327Y NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 327 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) TCTCCAGTATGAATTTTTTTA 0.353 24 171 --- --- --- --- PASS TYW1 55253 broad.mit.edu 37 7 66483032 66483032 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:66483032C>T uc003tvn.2 + 6 912 c.763C>T c.(763-765)CAC>TAC p.H255Y TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 255 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) CTGTGGCGGCCACTGCAAGAA 0.527 8 32 --- --- --- --- PASS CCL26 10344 broad.mit.edu 37 7 75401323 75401323 + Splice_Site SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:75401323T>A uc003udt.1 - 3 182 c.74_splice c.e3-1 p.R25_splice NM_006072 NP_006063 Q9Y258 CCL26_HUMAN chemokine (C-C motif) ligand 26 precursor cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity 0 CACTCCCACCTAAAAATCAGG 0.547 31 83 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 78150907 78150907 + Silent SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:78150907A>G uc003ugx.2 - 4 848 c.594T>C c.(592-594)AAT>AAC p.N198N MAGI2_uc003ugy.2_Silent_p.N198N|MAGI2_uc011kgr.1_Silent_p.N30N|MAGI2_uc011kgs.1_Silent_p.N35N NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 198 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGTCTGTTACATTTAACAATA 0.423 123 352 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88962778 88962778 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:88962778G>T uc011khi.1 + 4 1020 c.482G>T c.(481-483)TGC>TTC p.C161F NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 161 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAGGTATCATGCATGAAGAGT 0.443 HNSCC(36;0.09) 33 85 --- --- --- --- PASS CLDN12 9069 broad.mit.edu 37 7 90042515 90042515 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:90042515G>T uc003ukp.2 + 5 1161 c.525G>T c.(523-525)GTG>GTT p.V175V CLDN12_uc003ukq.2_Silent_p.V175V|CLDN12_uc010leq.2_Silent_p.V175V|CLDN12_uc003ukr.2_Silent_p.V175V|CLDN12_uc003uks.2_Silent_p.V175V NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 175 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 ACTATGCAGTGTATGTCACTA 0.418 125 399 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94056332 94056332 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:94056332G>A uc003ung.1 + 47 3589 c.3118G>A c.(3118-3120)GAT>AAT p.D1040N COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1040 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCACCATGGTGATCAAGGTGC 0.438 HNSCC(75;0.22) 8 85 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100681403 100681403 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:100681403G>C uc003uxp.1 + 3 6759 c.6706G>C c.(6706-6708)GAG>CAG p.E2236Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2236 Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AGTTACTTCTGAGGCTAGCAC 0.498 8 688 --- --- --- --- PASS CDHR3 222256 broad.mit.edu 37 7 105658488 105658488 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:105658488C>T uc003vdl.3 + 12 1731 c.1623C>T c.(1621-1623)GCC>GCT p.A541A CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Silent_p.A528A|CDHR3_uc011klt.1_Silent_p.A453A|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 541 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GAATCCAGGCCACCAACAACG 0.483 12 44 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106509389 106509389 + Silent SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:106509389C>G uc003vdv.3 + 2 1468 c.1383C>G c.(1381-1383)CTC>CTG p.L461L PIK3CG_uc003vdu.2_Silent_p.L461L|PIK3CG_uc003vdw.2_Silent_p.L461L NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 461 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TTCAGCTTCTCTATTATGTGA 0.532 49 138 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113558590 113558590 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:113558590C>A uc010ljy.1 - 1 493 c.462G>T c.(460-462)GAG>GAT p.E154D NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 154 CBM21. glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 ATACTAACTTCTCAAAAGAAA 0.353 44 178 --- --- --- --- PASS COPG2 26958 broad.mit.edu 37 7 130295841 130295841 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:130295841T>C uc003vqh.1 - 9 810 c.720A>G c.(718-720)CTA>CTG p.L240L NM_012133 NP_036265 Q9UBF2 COPG2_HUMAN coatomer protein complex, subunit gamma 2 240 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat protein binding|structural molecule activity 0 Melanoma(18;0.0435) CAGTTTCTTTTAGTAAGCGAC 0.363 65 165 --- --- --- --- PASS OR2A12 346525 broad.mit.edu 37 7 143792422 143792422 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:143792422G>A uc011kty.1 + 1 222 c.222G>A c.(220-222)TCG>TCA p.S74S NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) CCTATGCCTCGAGTACTGTCC 0.453 78 173 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147926793 147926793 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:147926793C>T uc003weu.1 + 20 3819 c.3303C>T c.(3301-3303)GAC>GAT p.D1101D NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1101 Laminin G-like 4.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACAATATTGACGTAGACCACA 0.433 HNSCC(39;0.1) 36 87 --- --- --- --- PASS EZH2 2146 broad.mit.edu 37 7 148506222 148506222 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:148506222C>T uc003wfd.1 - 19 2287 c.2121G>A c.(2119-2121)AGG>AGA p.R707R EZH2_uc011kug.1_Silent_p.R656R|EZH2_uc003wfb.1_Silent_p.R712R|EZH2_uc003wfc.1_Silent_p.R668R|EZH2_uc011kuh.1_Silent_p.R698R NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 707 SET. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) AAATACCTATCCTGTGATCAC 0.443 Mis DLBCL 12 237 --- --- --- --- PASS ABP1 26 broad.mit.edu 37 7 150556093 150556093 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr7:150556093C>A uc003why.1 + 4 6031 c.1813C>A c.(1813-1815)CTG>ATG p.L605M ABP1_uc003whz.1_Missense_Mutation_p.L605M|ABP1_uc003wia.1_Missense_Mutation_p.L605M NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 605 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CGACCAGGTGCTGCCCCCAGG 0.627 9 25 --- --- --- --- PASS MSR1 4481 broad.mit.edu 37 8 16026285 16026285 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:16026285G>T uc003wwz.2 - 4 510 c.312C>A c.(310-312)AGC>AGA p.S104R MSR1_uc010lsu.2_Missense_Mutation_p.S122R|MSR1_uc003wxa.2_Missense_Mutation_p.S104R|MSR1_uc003wxb.2_Missense_Mutation_p.S104R|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 104 Spacer (Probable).|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TTTCCTCTTCGCTGTCATTTC 0.398 97 220 --- --- --- --- PASS CLVS1 157807 broad.mit.edu 37 8 62212824 62212824 + Silent SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:62212824C>G uc003xuh.2 + 2 762 c.438C>G c.(436-438)GCC>GCG p.A146A CLVS1_uc003xug.2_Silent_p.A146A|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.A146A NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 146 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 TGTTTGCAGCCAATTGGGATC 0.448 29 75 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 68931877 68931877 + Nonsense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:68931877C>T uc003xxv.1 + 3 334 c.307C>T c.(307-309)CAA>TAA p.Q103* PREX2_uc003xxu.1_Nonsense_Mutation_p.Q103*|PREX2_uc011lez.1_Intron NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 103 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TAATGCTCAACAAGAAGTGGG 0.353 22 112 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765850 77765850 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:77765850G>A uc003yav.2 + 10 6945 c.6558G>A c.(6556-6558)ACG>ACA p.T2186T ZFHX4_uc003yau.1_Silent_p.T2231T|ZFHX4_uc003yaw.1_Silent_p.T2186T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2186 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTCTAGAACGAGATTTACTG 0.383 HNSCC(33;0.089) 21 98 --- --- --- --- PASS UQCRB 7381 broad.mit.edu 37 8 97243321 97243321 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:97243321G>A uc003yhq.3 - 4 402 c.298C>T c.(298-300)CGG>TGG p.R100W UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA NM_006294 NP_006285 P14927 QCR7_HUMAN ubiquinol-cytochrome c reductase binding 100 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial respiratory chain ubiquinol-cytochrome-c reductase activity ovary(1) 1 Breast(36;5.16e-05) TTTCTTTCCCGAATAACCTCT 0.338 156 195 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100866426 100866426 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:100866426G>A uc003yiv.2 + 56 10995 c.10884G>A c.(10882-10884)GCG>GCA p.A3628A VPS13B_uc003yiw.2_Silent_p.A3603A NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3628 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCACCACTGCGAGGCAGCTTG 0.562 14 139 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105161076 105161076 + Nonsense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:105161076G>T uc003yls.2 + 23 3629 c.3388G>T c.(3388-3390)GAA>TAA p.E1130* RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Nonsense_Mutation_p.E1119*|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAGCCAAACGGGTAGGAATTT 0.408 HNSCC(12;0.0054) 26 252 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106814808 106814808 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:106814808G>T uc003ymd.2 + 8 2521 c.2498G>T c.(2497-2499)AGC>ATC p.S833I ZFPM2_uc011lhs.1_Missense_Mutation_p.S564I NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 833 Interaction with CTBP2 (Probable). 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) ATAGATCTCAGCAAAAAGTGT 0.458 7 63 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110401328 110401328 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:110401328A>T uc003yne.2 + 8 748 c.644A>T c.(643-645)CAT>CTT p.H215L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 215 Extracellular (Potential).|IPT/TIG 2. 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) AAACTGGATCATCCAAATGGA 0.313 HNSCC(38;0.096) 157 170 --- --- --- --- PASS KLHL38 340359 broad.mit.edu 37 8 124658216 124658216 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:124658216T>C uc003yqs.1 - 3 1533 c.1509A>G c.(1507-1509)AAA>AAG p.K503K NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 503 Kelch 5. 0 TGTCCGCACATTTGACAAATT 0.517 26 175 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133044300 133044300 + Splice_Site SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:133044300C>A uc003ytg.2 - 11 860 c.860_splice c.e11-1 p.A287_splice OC90_uc011lix.1_Splice_Site_p.A287_splice NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CTGTCACAGGCTGAAAGGAAC 0.547 16 166 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144947018 144947018 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr8:144947018T>C uc003zaa.1 - 1 417 c.404A>G c.(403-405)CAG>CGG p.Q135R NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 135 Plectin 3. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCGATGGCCTGAAAGAGGGC 0.677 3 80 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90498077 90498077 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr9:90498077C>A uc004app.3 + 1 306 c.271C>A c.(271-273)CCC>ACC p.P91T C9orf79_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 91 integral to membrane ovary(3) 3 CAGTGACCCACCCTCACCCCC 0.572 6 18 --- --- --- --- PASS OR13C2 392376 broad.mit.edu 37 9 107367467 107367467 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr9:107367467A>T uc011lvq.1 - 1 442 c.442T>A c.(442-444)TCC>ACC p.S148T NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATGATCCAGGACCCAGCTGCC 0.458 65 106 --- --- --- --- PASS ADAMTS13 11093 broad.mit.edu 37 9 136298499 136298499 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr9:136298499G>T uc004cdv.3 + 10 1538 c.1094G>T c.(1093-1095)TGG>TTG p.W365L ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.W365L|ADAMTS13_uc004cdu.1_Missense_Mutation_p.W334L|ADAMTS13_uc004cdw.3_Missense_Mutation_p.W365L|ADAMTS13_uc004cdx.3_Missense_Mutation_p.W334L|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.W35L|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 365 Cysteine-rich.|Disintegrin. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCCTTGCAGTGGTGCTCCAAG 0.632 27 107 --- --- --- --- PASS PMPCA 23203 broad.mit.edu 37 9 139311537 139311537 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr9:139311537G>A uc004chl.2 + 7 773 c.768G>A c.(766-768)GTG>GTA p.V256V PMPCA_uc010nbl.2_Silent_p.V156V|PMPCA_uc011mdz.1_Silent_p.V125V|PMPCA_uc004chm.1_Silent_p.V6V|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 256 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGGCCGGCGTGGGCGTGGAGC 0.612 17 42 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7214090 7214090 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:7214090C>A uc009xio.1 - 19 2273 c.2182G>T c.(2182-2184)GAC>TAC p.D728Y SFMBT2_uc001ijn.1_Missense_Mutation_p.D728Y|SFMBT2_uc010qay.1_Missense_Mutation_p.D563Y NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 728 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 GTGTCATCGTCCATGGCGTCA 0.687 6 20 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7214091 7214091 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:7214091C>A uc009xio.1 - 19 2272 c.2181G>T c.(2179-2181)ATG>ATT p.M727I SFMBT2_uc001ijn.1_Missense_Mutation_p.M727I|SFMBT2_uc010qay.1_Missense_Mutation_p.M562I NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 727 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TGTCATCGTCCATGGCGTCAG 0.692 6 20 --- --- --- --- PASS TAF3 83860 broad.mit.edu 37 10 7866291 7866291 + Silent SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:7866291A>T uc010qbd.1 + 2 177 c.177A>T c.(175-177)ACA>ACT p.T59T NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 59 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 ATGGCCGAACAGACCCAATTT 0.353 57 224 --- --- --- --- PASS MCM10 55388 broad.mit.edu 37 10 13251236 13251236 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:13251236G>T uc001ima.2 + 20 2655 c.2554G>T c.(2554-2556)GGT>TGT p.G852C MCM10_uc001imb.2_Missense_Mutation_p.G851C|MCM10_uc001imc.2_3'UTR NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 852 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 GGAAAAGACTGGTCCAAAGAT 0.368 39 117 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16981140 16981140 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:16981140C>G uc001ioo.2 - 38 5607 c.5555G>C c.(5554-5556)GGC>GCC p.G1852A NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1852 CUB 13. 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) ATTATCATTGCCAAATACTAG 0.388 30 110 --- --- --- --- PASS CACNB2 783 broad.mit.edu 37 10 18789804 18789804 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:18789804C>T uc001ipr.2 + 5 580 c.520C>T c.(520-522)CCA>TCA p.P174S CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.P174S|CACNB2_uc001ipt.2_Missense_Mutation_p.P174S|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.P146S|CACNB2_uc001ipv.2_Missense_Mutation_p.P146S|CACNB2_uc009xka.1_Missense_Mutation_p.P146S|CACNB2_uc001ipw.2_Missense_Mutation_p.P119S|CACNB2_uc001ipx.2_Missense_Mutation_p.P119S|CACNB2_uc009xkb.1_Missense_Mutation_p.P120S|CACNB2_uc010qcm.1_Missense_Mutation_p.P120S|CACNB2_uc001ipz.2_Missense_Mutation_p.P120S|CACNB2_uc001ipy.2_Missense_Mutation_p.P120S|CACNB2_uc010qcn.1_Missense_Mutation_p.P126S|CACNB2_uc010qco.1_Missense_Mutation_p.P126S|CACNB2_uc001iqa.2_Missense_Mutation_p.P126S NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 174 SH3. axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGGATTCATTCCAAGCCCAGT 0.408 12 111 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26559634 26559634 + Silent SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:26559634C>G uc001isp.2 + 10 1544 c.1041C>G c.(1039-1041)CTC>CTG p.L347L GAD2_uc001isq.2_Silent_p.L347L NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 347 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TTGACCCCCTCTTAGCTGTCG 0.488 32 311 --- --- --- --- PASS C10orf71 118461 broad.mit.edu 37 10 50530680 50530680 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:50530680C>G uc010qgp.1 + 3 429 c.90C>G c.(88-90)AGC>AGG p.S30R NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 30 0 GGGAGGTGAGCAGCCTAACAG 0.557 10 20 --- --- --- --- PASS OIT3 170392 broad.mit.edu 37 10 74684372 74684372 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:74684372A>T uc001jte.1 + 7 1555 c.1337A>T c.(1336-1338)GAG>GTG p.E446V OIT3_uc009xqs.1_Intron NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 446 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) AAGATCGACGAGGTCCTGAAA 0.557 7 38 --- --- --- --- PASS DYDC2 84332 broad.mit.edu 37 10 82122201 82122201 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:82122201T>A uc001kca.1 + 3 382 c.2T>A c.(1-3)ATG>AAG p.M1K DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.M1K NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 1 protein binding 0 Colorectal(32;0.229) GCTGCCAGGATGGAAACTAAC 0.423 23 105 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 83635523 83635523 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:83635523G>A uc001kco.2 + 1 454 c.427G>A c.(427-429)GGG>AGG p.G143R NRG3_uc010qlz.1_Missense_Mutation_p.G143R|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 143 Ser/Thr-rich.|Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) cccctccgccGGGGGTGCCGC 0.527 4 15 --- --- --- --- PASS CYP2C18 1562 broad.mit.edu 37 10 96447970 96447970 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:96447970C>T uc001kjv.3 + 3 746 c.420C>T c.(418-420)AGC>AGT p.S140S CYP2C18_uc001kjw.3_Silent_p.S140S|CYP2C19_uc009xus.1_Silent_p.S5S|CYP2C19_uc010qny.1_5'UTR NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 140 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GGAAGAGGAGCATCGAGGACC 0.468 24 101 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118220583 118220583 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:118220583T>A uc001lcl.3 + 6 772 c.671T>A c.(670-672)ATC>AAC p.I224N NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 224 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) GCAGCTCGCATCCTCTTTGAG 0.418 41 184 --- --- --- --- PASS PDZD8 118987 broad.mit.edu 37 10 119043529 119043529 + Silent SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:119043529A>T uc001lde.1 - 5 2914 c.2715T>A c.(2713-2715)CTT>CTA p.L905L NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 905 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) CTTCCAGCCTAAGGTTTTTCA 0.433 33 102 --- --- --- --- PASS FAM175B 23172 broad.mit.edu 37 10 126505162 126505162 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:126505162C>T uc001lib.3 + 3 226 c.181C>T c.(181-183)CCT>TCT p.P61S NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 61 MPN-like. BRISC complex polyubiquitin binding 0 TAACCATCAGCCTTGTTCAAA 0.303 12 122 --- --- --- --- PASS C10orf137 26098 broad.mit.edu 37 10 127422226 127422226 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:127422226G>A uc001liq.1 + 11 1592 c.1299G>A c.(1297-1299)AAG>AAA p.K433K C10orf137_uc001lin.2_Silent_p.K399K|C10orf137_uc001lio.1_Silent_p.K399K|C10orf137_uc001lip.1_Silent_p.K137K|C10orf137_uc001lir.2_5'Flank NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) ATATAGTGAAGCTCTATGACC 0.373 35 136 --- --- --- --- PASS TCERG1L 256536 broad.mit.edu 37 10 132891470 132891470 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr10:132891470C>G uc001lkp.2 - 12 1802 c.1716G>C c.(1714-1716)AAG>AAC p.K572N NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 572 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) TGTCCCGTTTCTTAAGAATAA 0.468 3 119 --- --- --- --- PASS PHRF1 57661 broad.mit.edu 37 11 608828 608828 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:608828C>T uc001lqe.2 + 14 3503 c.3372C>T c.(3370-3372)TCC>TCT p.S1124S PHRF1_uc010qwc.1_Silent_p.S1123S|PHRF1_uc010qwd.1_Silent_p.S1122S|PHRF1_uc010qwe.1_Silent_p.S1120S|PHRF1_uc009ybz.1_Silent_p.S914S|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1124 Arg-rich. RNA polymerase binding|zinc ion binding 0 GGGAGTGCTCCCCCACCAGCA 0.632 5 18 --- --- --- --- PASS OR52N2 390077 broad.mit.edu 37 11 5841740 5841740 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:5841740C>G uc010qzp.1 + 1 175 c.175C>G c.(175-177)CGG>GGG p.R59G TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H53_F64del(1) ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCCTGCACCGGCCCATGTA 0.522 50 107 --- --- --- --- PASS OR2AG2 338755 broad.mit.edu 37 11 6789994 6789994 + Missense_Mutation SNP C A A rs148881109 by1000genomes TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:6789994C>A uc001meq.1 - 1 195 c.195G>T c.(193-195)CAG>CAT p.Q65H NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGAGAGAGAGCTGCCCAAGCA 0.547 38 107 --- --- --- --- PASS ZNF214 7761 broad.mit.edu 37 11 7022255 7022255 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:7022255C>A uc001mfa.2 - 3 962 c.659G>T c.(658-660)GGA>GTA p.G220V ZNF214_uc010ray.1_Missense_Mutation_p.G220V|ZNF214_uc009yfh.1_Missense_Mutation_p.G220V NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TTTATTACATCCACAGTACTT 0.398 65 132 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30034013 30034013 + Nonsense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:30034013A>T uc001msk.2 - 2 1365 c.213T>A c.(211-213)TGT>TGA p.C71* NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 71 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CATGGGAGGTACAGGCCCCGC 0.647 21 43 --- --- --- --- PASS SLC1A2 6506 broad.mit.edu 37 11 35313935 35313935 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:35313935G>A uc001mwd.2 - 7 1582 c.990C>T c.(988-990)ATC>ATT p.I330I SLC1A2_uc001mwe.2_Silent_p.I321I|SLC1A2_uc010rev.1_Silent_p.I330I NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 330 Helical; (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) AGGGGAGAAAGATGCCCCCGT 0.483 25 150 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43411364 43411364 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:43411364G>A uc001mxi.2 + 3 426 c.412G>A c.(412-414)GAC>AAC p.D138N TTC17_uc001mxh.2_Missense_Mutation_p.D138N|TTC17_uc010rfj.1_Missense_Mutation_p.D81N NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 138 binding ovary(5) 5 GGAGAGCAAAGACATCAGGTA 0.363 41 92 --- --- --- --- PASS ACCS 84680 broad.mit.edu 37 11 44102761 44102761 + Silent SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:44102761G>C uc009yks.1 + 12 1146 c.1002G>C c.(1000-1002)ACG>ACC p.T334T EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Silent_p.T334T NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 334 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 GCTTTGGCACGCTGTACACAG 0.622 26 73 --- --- --- --- PASS PRDM11 56981 broad.mit.edu 37 11 45246232 45246232 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:45246232C>G uc001myo.2 + 8 1558 c.1309C>G c.(1309-1311)CAT>GAT p.H437D NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 437 upper_aerodigestive_tract(1) 1 ATCTGACCCTCATGAACTTCC 0.527 62 352 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55111022 55111022 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:55111022A>T uc010rie.1 + 1 346 c.346A>T c.(346-348)ATG>TTG p.M116L NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TTTGGTGGTGATGGCCTATGA 0.463 104 357 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433006 55433006 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:55433006G>T uc001nht.3 + 3 629 c.364G>T c.(364-366)GTG>TTG p.V122L OR4C6_uc010rik.1_Missense_Mutation_p.V122L NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGACCGCTACGTGGCCATCTG 0.547 51 170 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861452 55861452 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:55861452C>A uc010rix.1 + 1 669 c.669C>A c.(667-669)GCC>GCA p.A223A NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) TCATCTCAGCCATCCTGAGGA 0.468 61 187 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 56000216 56000216 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:56000216G>T uc010rjc.1 - 1 446 c.446C>A c.(445-447)ACA>AAA p.T149K NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 149 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AAAGCATTCTGTGGTTCCAAA 0.413 70 242 --- --- --- --- PASS OR9I1 219954 broad.mit.edu 37 11 57886014 57886014 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:57886014G>A uc001nml.1 - 1 903 c.903C>T c.(901-903)TTC>TTT p.F301F OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) CGACCTTTCTGAAGGCGTCTT 0.428 46 357 --- --- --- --- PASS OR9I1 219954 broad.mit.edu 37 11 57886577 57886577 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:57886577G>C uc001nml.1 - 1 340 c.340C>G c.(340-342)CTG>GTG p.L114V OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) ACTGCCAGCAGAAAGCACTCT 0.552 8 65 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958547 57958547 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:57958547G>T uc010rka.1 + 1 585 c.585G>T c.(583-585)CAG>CAT p.Q195H NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) GCTACACTCAGGAAGTGGTGA 0.453 45 122 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958548 57958548 + Nonsense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:57958548G>T uc010rka.1 + 1 586 c.586G>T c.(586-588)GAA>TAA p.E196* NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) CTACACTCAGGAAGTGGTGAT 0.448 45 122 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58207079 58207079 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:58207079G>A uc010rkh.1 - 1 546 c.546C>T c.(544-546)CTC>CTT p.L182L NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGAGAGTCAAGAGAGGAGGAG 0.413 13 99 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58207084 58207084 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:58207084G>A uc010rkh.1 - 1 541 c.541C>T c.(541-543)CCT>TCT p.P181S NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTCAAGAGAGGAGGAGCATCA 0.408 13 100 --- --- --- --- PASS DDB1 1642 broad.mit.edu 37 11 61067638 61067638 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:61067638C>A uc001nrc.3 - 27 3619 c.3393G>T c.(3391-3393)AAG>AAT p.K1131N NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 1131 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 CCTCCACAACCTTGATGAGGT 0.602 NER 13 46 --- --- --- --- PASS DAGLA 747 broad.mit.edu 37 11 61503805 61503805 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:61503805G>T uc001nsa.2 + 13 1465 c.1354G>T c.(1354-1356)GCC>TCC p.A452S NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 452 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CCTGTCCCAGGCCTTTGGGCG 0.572 23 67 --- --- --- --- PASS RTN3 10313 broad.mit.edu 37 11 63487075 63487075 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:63487075G>A uc001nxq.2 + 3 1288 c.1101G>A c.(1099-1101)ATG>ATA p.M367I RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.M348I|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.M255I|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 367 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 GACTTGACATGAGTGAATATA 0.373 7 130 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83585513 83585513 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:83585513G>T uc001paj.2 - 11 1503 c.1200C>A c.(1198-1200)ACC>ACA p.T400T DLG2_uc001pai.2_Silent_p.T297T|DLG2_uc010rsy.1_Silent_p.T367T|DLG2_uc010rsz.1_Silent_p.T400T|DLG2_uc010rta.1_Silent_p.T400T|DLG2_uc001pak.2_Silent_p.T505T|DLG2_uc010rtb.1_Silent_p.T367T|DLG2_uc001pal.1_Silent_p.T400T|DLG2_uc001pam.1_Silent_p.T439T NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 400 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GACGAGTTGCGGTGCTATGTT 0.338 18 57 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93800830 93800830 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:93800830T>A uc001pep.2 + 5 1134 c.977T>A c.(976-978)TTC>TAC p.F326Y uc001pen.1_RNA NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 326 Plastocyanin-like 2.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GTCAACCTGTTCCCAGCCACC 0.453 24 224 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93844934 93844934 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:93844934C>A uc001pep.2 + 20 3511 c.3354C>A c.(3352-3354)ATC>ATA p.I1118I uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 1118 Helical; (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCTTGGTCATCCTTTTCATCA 0.478 22 188 --- --- --- --- PASS RNF26 79102 broad.mit.edu 37 11 119206154 119206154 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:119206154G>C uc001pwh.2 + 1 918 c.322G>C c.(322-324)GCA>CCA p.A108P NM_032015 NP_114404 Q9BY78 RNF26_HUMAN ring finger protein 26 108 Leu-rich. zinc ion binding ovary(1) 1 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) CTCTCATGGGGCACTGCGGAG 0.602 26 189 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124757085 124757085 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:124757085G>T uc001qbg.2 - 15 2363 c.2223C>A c.(2221-2223)CCC>CCA p.P741P ROBO4_uc010sas.1_Silent_p.P596P|ROBO4_uc001qbh.2_Silent_p.P631P|ROBO4_uc001qbi.2_Silent_p.P299P NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 741 Pro/Ser-rich. 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) GGATGGAGGAGGGAGCCTGTG 0.642 19 106 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124757306 124757306 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr11:124757306G>A uc001qbg.2 - 14 2286 c.2146C>T c.(2146-2148)CCA>TCA p.P716S ROBO4_uc010sas.1_Missense_Mutation_p.P571S|ROBO4_uc001qbh.2_Missense_Mutation_p.P606S|ROBO4_uc001qbi.2_Missense_Mutation_p.P274S NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 716 Pro/Ser-rich. 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) AGGGGTGCTGGAGGGAGATGA 0.607 13 107 --- --- --- --- PASS PRMT8 56341 broad.mit.edu 37 12 3649958 3649958 + Splice_Site SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:3649958G>A uc001qmf.2 + 2 628 c.261_splice c.e2+1 p.E87_splice PRMT8_uc009zed.2_Splice_Site_p.E78_splice|PRMT8_uc009zee.1_Splice_Site NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) GATCCACGAGGTAAAGTGTCC 0.527 55 221 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7476890 7476890 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:7476890G>T uc001qsx.1 + 10 1330 c.1330G>T c.(1330-1332)GCC>TCC p.A444S NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 444 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 GAAAACTGCTGCCACGATAAG 0.448 8 36 --- --- --- --- PASS DPPA3 359787 broad.mit.edu 37 12 7869565 7869565 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:7869565G>A uc001qtf.2 + 4 450 c.372G>A c.(370-372)AAG>AAA p.K124K NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN stella 124 cytoplasm|nucleus 0 Kidney(36;0.0887) TTTTTCAGAAGGAATCAAGAC 0.378 37 144 --- --- --- --- PASS CLEC12A 160364 broad.mit.edu 37 12 10133281 10133281 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:10133281C>A uc001qwr.3 + 4 668 c.480C>A c.(478-480)GCC>GCA p.A160A CLEC12A_uc001qwq.2_Silent_p.A170A|CLEC12A_uc001qws.3_Silent_p.A127A|CLEC12A_uc001qwt.2_Silent_p.A89A NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 160 Extracellular (Potential).|C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding p.A160T(1) skin(1) 1 GTAAAATGGCCTGTGCTGCTC 0.448 41 107 --- --- --- --- PASS CSDA 8531 broad.mit.edu 37 12 10854608 10854608 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:10854608T>A uc001qyt.2 - 8 1247 c.1004A>T c.(1003-1005)TAC>TTC p.Y335F CSDA_uc001qyu.2_Missense_Mutation_p.Y266F NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 335 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) GCGACGCCGGTAATTGTAGGG 0.542 82 256 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13906731 13906731 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:13906731G>A uc001rbt.2 - 3 709 c.530C>T c.(529-531)CCT>CTT p.P177L NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 177 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTGGTAGCCAGGGAAATAGGT 0.478 53 141 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19408041 19408041 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:19408041C>A uc001reb.2 + 5 460 c.374C>A c.(373-375)GCT>GAT p.A125D PLEKHA5_uc010sie.1_Missense_Mutation_p.A125D|PLEKHA5_uc001rea.2_Missense_Mutation_p.A125D|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_Missense_Mutation_p.A17D|PLEKHA5_uc010sig.1_Missense_Mutation_p.A17D|PLEKHA5_uc010sih.1_Missense_Mutation_p.A17D NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 125 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATAAATGAAGCTTCTAACTAT 0.348 4 174 --- --- --- --- PASS LDHB 3945 broad.mit.edu 37 12 21788641 21788641 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:21788641C>A uc001rfc.2 - 7 858 c.840G>T c.(838-840)GGG>GGT p.G280G LDHB_uc001rfd.2_Silent_p.G280G|LDHB_uc001rfe.2_Silent_p.G280G NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 280 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) TGCCATACATCCCCTGCCAGA 0.348 24 88 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40760848 40760848 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:40760848G>T uc001rmg.3 + 50 7552 c.7431G>T c.(7429-7431)CGG>CGT p.R2477R LRRK2_uc009zjw.2_Silent_p.R1315R|LRRK2_uc001rmi.2_3'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2477 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GCTACAACCGGAAAAATACTG 0.328 16 83 --- --- --- --- PASS ACVR1B 91 broad.mit.edu 37 12 52380679 52380679 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:52380679C>T uc001rzn.2 + 7 1256 c.1214C>T c.(1213-1215)GCC>GTC p.A405V ACVR1B_uc001rzl.2_Missense_Mutation_p.A405V|ACVR1B_uc001rzm.2_Missense_Mutation_p.A405V|ACVR1B_uc010snn.1_Missense_Mutation_p.A446V NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 405 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GATATTTATGCCCTCGGGCTT 0.418 5 251 --- --- --- --- PASS NR4A1 3164 broad.mit.edu 37 12 52451220 52451220 + Nonsense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:52451220G>A uc001rzs.2 + 7 1760 c.1446G>A c.(1444-1446)TGG>TGA p.W482* NR4A1_uc010sno.1_Nonsense_Mutation_p.W495*|NR4A1_uc001rzt.2_Nonsense_Mutation_p.W482*|NR4A1_uc009zmc.2_Missense_Mutation_p.G96E NM_002135 NP_002126 P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 482 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0967) TCGGGGACTGGATTGACAGTA 0.612 16 68 --- --- --- --- PASS KRT1 3848 broad.mit.edu 37 12 53070088 53070088 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:53070088G>A uc001sau.1 - 7 1505 c.1446C>T c.(1444-1446)TAC>TAT p.Y482Y KRT1_uc001sav.1_Silent_p.Y482Y NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 482 Rod.|Coil 2. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 GGAGGGTCCTGTAGGTGGCAA 0.572 12 61 --- --- --- --- PASS HOXC10 3226 broad.mit.edu 37 12 54379542 54379542 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:54379542G>A uc001sen.2 + 1 597 c.499G>A c.(499-501)GCC>ACC p.A167T NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 167 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 CTGTTCTGGGGCCAACGACTT 0.657 7 55 --- --- --- --- PASS HOXC10 3226 broad.mit.edu 37 12 54379543 54379543 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:54379543C>A uc001sen.2 + 1 598 c.500C>A c.(499-501)GCC>GAC p.A167D NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 167 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 TGTTCTGGGGCCAACGACTTC 0.657 6 55 --- --- --- --- PASS HSD17B6 8630 broad.mit.edu 37 12 57167625 57167625 + Translation_Start_Site SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:57167625A>T uc001smg.1 + 2 99 c.-11A>T c.(-13--9)GAAGC>GATGC NM_003725 NP_003716 O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity upper_aerodigestive_tract(1)|pancreas(1) 2 Succinic acid(DB00139) AAGAGAAGGAAGCACCCTCAC 0.363 24 71 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 72962382 72962382 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:72962382G>C uc001sxa.2 + 10 1972 c.1942G>C c.(1942-1944)GGA>CGA p.G648R NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 648 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TATTGTGGTAGGAAATAGAAG 0.318 23 121 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 73056875 73056875 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:73056875C>T uc001sxa.2 + 19 3005 c.2975C>T c.(2974-2976)TCT>TTT p.S992F NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 992 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GCTGCTGCTTCTTTCTCACGA 0.408 32 97 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78515828 78515828 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:78515828C>A uc001syp.2 + 16 4031 c.3858C>A c.(3856-3858)GGC>GGA p.G1286G NAV3_uc001syo.2_Silent_p.G1286G|NAV3_uc010sub.1_Silent_p.G786G|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1286 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CGCGGCAAGGCAGTCTGGAGT 0.562 HNSCC(70;0.22) 18 91 --- --- --- --- PASS CDK17 5128 broad.mit.edu 37 12 96683066 96683066 + Splice_Site SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:96683066C>A uc001tep.1 - 11 1487 c.998_splice c.e11-1 p.G333_splice CDK17_uc009ztk.2_Splice_Site_p.G333_splice|CDK17_uc010svb.1_Splice_Site_p.G280_splice NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 CGGGCTAGTCCTTCATAGGGA 0.448 4 160 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99222964 99222964 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:99222964C>A uc001tge.1 - 19 3471 c.3054G>T c.(3052-3054)AGG>AGT p.R1018S ANKS1B_uc001tgf.1_Intron|ANKS1B_uc001tgk.2_Missense_Mutation_p.R315S|ANKS1B_uc010svd.1_Missense_Mutation_p.R24S|ANKS1B_uc001tgd.1_Intron|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Missense_Mutation_p.R24S|ANKS1B_uc001tgh.3_Missense_Mutation_p.R24S|ANKS1B_uc001tgi.2_Missense_Mutation_p.R244S|ANKS1B_uc009ztr.2_Intron|ANKS1B_uc001tgj.2_Intron|ANKS1B_uc009ztp.2_Missense_Mutation_p.R24S|ANKS1B_uc010svf.1_Missense_Mutation_p.R24S|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Intron|ANKS1B_uc009zts.1_Missense_Mutation_p.R244S NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 1018 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GAGCCATCTGCCTCTCCAGTT 0.418 72 360 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102067297 102067297 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:102067297C>A uc001tii.2 + 24 2787 c.2685C>A c.(2683-2685)ATC>ATA p.I895I MYBPC1_uc001tig.2_Silent_p.I902I|MYBPC1_uc010svq.1_Silent_p.I864I|MYBPC1_uc001tih.2_Silent_p.I902I|MYBPC1_uc001tij.2_Silent_p.I877I|MYBPC1_uc010svr.1_Silent_p.I877I|MYBPC1_uc010svs.1_Silent_p.I895I|MYBPC1_uc010svt.1_Silent_p.I865I|MYBPC1_uc010svu.1_Silent_p.I858I|MYBPC1_uc001tik.2_Silent_p.I851I|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 895 Ig-like C2-type 6. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 CTGATACAATCATATTTATTA 0.383 88 248 --- --- --- --- PASS NAA25 80018 broad.mit.edu 37 12 112513519 112513519 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:112513519C>G uc001ttm.2 - 8 759 c.739G>C c.(739-741)GAG>CAG p.E247Q NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.E219Q|NAA25_uc009zwa.1_Missense_Mutation_p.E247Q NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 247 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 GCATTGCACTCTGGCCACCTG 0.403 3 110 --- --- --- --- PASS SDSL 113675 broad.mit.edu 37 12 113867083 113867083 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:113867083C>T uc001tvi.2 + 5 543 c.333C>T c.(331-333)GCC>GCT p.A111A SDSL_uc009zwh.2_Silent_p.A111A NM_138432 NP_612441 Q96GA7 SDSL_HUMAN serine dehydratase-like 111 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) GGGAGGGGGCCGAGGTTCAGC 0.627 11 93 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116429528 116429528 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:116429528G>A uc001tvw.2 - 17 3286 c.3231C>T c.(3229-3231)ACC>ACT p.T1077T NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1077 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ATCCTTGATCGGTGCTATCAT 0.602 11 105 --- --- --- --- PASS CCDC62 84660 broad.mit.edu 37 12 123282703 123282703 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:123282703G>A uc001udc.2 + 8 1078 c.933G>A c.(931-933)CAG>CAA p.Q311Q CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.Q311Q|CCDC62_uc001ude.2_Silent_p.Q72Q NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 isoform b 311 Potential. cytoplasm|nucleus ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) AATTAATACAGATGTATGACT 0.299 23 59 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130832721 130832721 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:130832721A>T uc001uik.2 + 7 817 c.727A>T c.(727-729)AGT>TGT p.S243C PIWIL1_uc001uij.1_Missense_Mutation_p.S243C NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 243 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) TGATATTCCAAGTCACAGGTT 0.328 12 91 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133363343 133363343 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr12:133363343C>A uc001ukz.1 - 14 3401 c.2842G>T c.(2842-2844)GCG>TCG p.A948S GOLGA3_uc001ula.1_Missense_Mutation_p.A948S|GOLGA3_uc001ulb.2_Missense_Mutation_p.A948S NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 948 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TCTGTGACCGCGACCATCTGC 0.622 31 103 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29608164 29608164 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr13:29608164G>T uc001usl.3 + 2 2436 c.2378G>T c.(2377-2379)AGC>ATC p.S793I NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 783 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TCTGCAAAGAGCAGGATTCTG 0.512 8 70 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32722036 32722036 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr13:32722036G>T uc001utx.2 + 13 1840 c.1344G>T c.(1342-1344)AGG>AGT p.R448S FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGGTACCAAGGGACATGCCTC 0.468 28 116 --- --- --- --- PASS NUFIP1 26747 broad.mit.edu 37 13 45533569 45533569 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr13:45533569C>G uc001uzp.2 - 7 1010 c.968G>C c.(967-969)GGT>GCT p.G323A NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein 323 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding 0 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) CTCCGGTGGACCTTCTAGCTT 0.403 37 187 --- --- --- --- PASS DACH1 1602 broad.mit.edu 37 13 72204792 72204792 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr13:72204792G>A uc010thn.1 - 4 1445 c.1022C>T c.(1021-1023)GCA>GTA p.A341V DACH1_uc010tho.1_Missense_Mutation_p.A341V|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 341 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CACCTTCATTGCTTcagcaat 0.259 17 233 --- --- --- --- PASS KLF5 688 broad.mit.edu 37 13 73636282 73636282 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr13:73636282C>T uc001vje.2 + 2 869 c.545C>T c.(544-546)CCG>CTG p.P182L KLF5_uc001vjd.2_Missense_Mutation_p.P91L NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 182 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CCTCCGGCCCCGACCCAGGCC 0.527 28 118 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88329495 88329495 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr13:88329495G>A uc001vln.2 + 2 2071 c.1852G>A c.(1852-1854)GTA>ATA p.V618I SLITRK5_uc010tic.1_Missense_Mutation_p.V377I NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 618 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CTATTCAGATGTAGTAGTTTC 0.597 21 179 --- --- --- --- PASS FGF14 2259 broad.mit.edu 37 13 102527548 102527548 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr13:102527548T>A uc001vpe.2 - 2 292 c.292A>T c.(292-294)AGC>TGC p.S98C FGF14_uc001vpf.2_Missense_Mutation_p.S103C NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 98 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GAATTAGTGCTGTCATCCTTG 0.433 10 76 --- --- --- --- PASS EFNB2 1948 broad.mit.edu 37 13 107187250 107187250 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr13:107187250T>C uc001vqi.2 - 1 88 c.63A>G c.(61-63)AGA>AGG p.R21R NM_004093 NP_004084 P52799 EFNB2_HUMAN ephrin B2 precursor 21 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding ovary(1) 1 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AAATCGCAGTTCTGCATAAAA 0.493 6 47 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249325 20249325 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:20249325C>T uc010tku.1 + 1 844 c.844C>T c.(844-846)CCT>TCT p.P282S NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTAATATTCCCTTTACTTAA 0.383 29 204 --- --- --- --- PASS OR4K17 390436 broad.mit.edu 37 14 20586279 20586279 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:20586279C>T uc001vwo.1 + 1 714 c.714C>T c.(712-714)TCC>TCT p.S238S NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GCATAATCTCCCTGAGCTGTT 0.408 99 341 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23866269 23866269 + Missense_Mutation SNP C A A rs148915045 byFrequency TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:23866269C>A uc001wjv.2 - 18 2138 c.2071G>T c.(2071-2073)GTC>TTC p.V691F NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 691 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGTGCATGACCAGGGGGTTG 0.612 28 103 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23866270 23866270 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:23866270C>A uc001wjv.2 - 18 2137 c.2070G>T c.(2068-2070)CTG>CTT p.L690L NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 690 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTGCATGACCAGGGGGTTGT 0.612 28 107 --- --- --- --- PASS FAM158A 51016 broad.mit.edu 37 14 24610496 24610496 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:24610496G>A uc001wmi.2 - 2 181 c.18C>T c.(16-18)ATC>ATT p.I6I NM_016049 NP_057133 Q9Y3B6 F158A_HUMAN hypothetical protein LOC51016 6 0 CCAGGGCCGAGATCTCCACCT 0.652 OREG0022618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 84 --- --- --- --- PASS FOXG1 2290 broad.mit.edu 37 14 29237890 29237890 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:29237890G>T uc001wqe.2 + 1 1604 c.1405G>T c.(1405-1407)GGG>TGG p.G469W NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 469 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGGACTGTCTGGGGGACTGTC 0.532 46 161 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63269063 63269063 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:63269063C>A uc001xfx.2 - 9 1857 c.1806G>T c.(1804-1806)GAG>GAT p.E602D KCNH5_uc001xfy.2_Missense_Mutation_p.E602D|KCNH5_uc001xfz.1_Missense_Mutation_p.E544D NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 602 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TAGCCACCACCTCATCATCCT 0.423 4 145 --- --- --- --- PASS GALNTL1 57452 broad.mit.edu 37 14 69798220 69798220 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:69798220A>T uc010aqu.1 + 7 823 c.730A>T c.(730-732)AGT>TGT p.S244C GALNTL1_uc001xla.1_Missense_Mutation_p.S244C|GALNTL1_uc001xlb.1_Missense_Mutation_p.S244C NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 244 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) TGATGTCATCAGTCTGGATAA 0.542 113 322 --- --- --- --- PASS DPF3 8110 broad.mit.edu 37 14 73220073 73220073 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:73220073G>T uc001xnc.2 - 3 213 c.200C>A c.(199-201)GCC>GAC p.A67D DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.A67D|DPF3_uc010ttq.1_Missense_Mutation_p.A77D NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 67 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTGGCCCGGGGCAAGGCCTGT 0.383 9 26 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96768355 96768355 + Missense_Mutation SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:96768355T>A uc001yfi.2 - 34 5493 c.5128A>T c.(5128-5130)AAT>TAT p.N1710Y NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1710 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGGTCAATATTGAGGCGGAGC 0.453 17 49 --- --- --- --- PASS C14orf177 283598 broad.mit.edu 37 14 99183499 99183499 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:99183499C>T uc001yfz.1 + 4 685 c.266C>T c.(265-267)CCA>CTA p.P89L NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 89 0 Melanoma(154;0.128) GAAACTTCTCCAGGGTCATGT 0.438 33 133 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105412132 105412132 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr14:105412132C>G uc010axc.1 - 7 9776 c.9656G>C c.(9655-9657)GGA>GCA p.G3219A AHNAK2_uc001ypx.2_Missense_Mutation_p.G3119A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3219 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAGGCCAGCTCCCTCGAGAAC 0.597 4 168 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28501024 28501024 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:28501024C>T uc001zbj.2 - 19 2971 c.2865G>A c.(2863-2865)GAG>GAA p.E955E HERC2_uc001zbl.1_Silent_p.E650E NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 955 Potential. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATACCTGGATCTCTGCAGTAA 0.488 29 67 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28501025 28501025 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:28501025T>C uc001zbj.2 - 19 2970 c.2864A>G c.(2863-2865)GAG>GGG p.E955G HERC2_uc001zbl.1_Missense_Mutation_p.E650G NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 955 Potential. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TACCTGGATCTCTGCAGTAAT 0.483 28 65 --- --- --- --- PASS ZNF770 54989 broad.mit.edu 37 15 35273851 35273851 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:35273851G>A uc001ziw.2 - 3 2096 c.1785C>T c.(1783-1785)CCC>CCT p.P595P NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TAGGAAGACAGGGTTGCCCGG 0.443 49 292 --- --- --- --- PASS TTBK2 146057 broad.mit.edu 37 15 43067484 43067484 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:43067484A>G uc001zqo.2 - 13 2286 c.1847T>C c.(1846-1848)GTG>GCG p.V616A TTBK2_uc010bcy.2_Missense_Mutation_p.V547A NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 616 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TGCTAAGACCACACCTGAGGT 0.468 34 265 --- --- --- --- PASS CCNDBP1 23582 broad.mit.edu 37 15 43484984 43484984 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:43484984C>T uc001zqv.2 + 9 1135 c.904C>T c.(904-906)CTG>TTG p.L302L CCNDBP1_uc001zqu.2_Silent_p.L174L|CCNDBP1_uc010bdc.2_Silent_p.L302L|CCNDBP1_uc010bdb.2_Silent_p.L174L|CCNDBP1_uc010udl.1_Silent_p.L141L|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Silent_p.L174L|CCNDBP1_uc010bdd.2_Silent_p.L174L|CCNDBP1_uc001zqy.2_Silent_p.L174L NM_012142 NP_036274 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 isoform 1 302 Interaction with TCF3.|Interaction with RPLP0. cell cycle cytoplasm|nucleus protein binding ovary(1)|kidney(1) 2 all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.42e-07) TATGTGTCACCTGACCGTGCG 0.398 23 171 --- --- --- --- PASS PPIP5K1 9677 broad.mit.edu 37 15 43827232 43827232 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:43827232G>C uc001zrw.2 - 31 4125 c.3942C>G c.(3940-3942)AGC>AGG p.S1314R PPIP5K1_uc001zrx.1_Missense_Mutation_p.S1287R|PPIP5K1_uc001zru.2_Missense_Mutation_p.S1289R|PPIP5K1_uc001zry.3_Missense_Mutation_p.S1289R|PPIP5K1_uc001zrv.2_Missense_Mutation_p.S1075R NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN histidine acid phosphatase domain containing 2A 1314 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity 0 GGCACAGTTGGCTGGACTTCT 0.567 51 153 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48782253 48782253 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:48782253G>C uc001zwx.1 - 25 3205 c.2877C>G c.(2875-2877)TTC>TTG p.F959L NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 959 TB 5. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGTACCTCAGGAAGCAGGTTT 0.587 14 62 --- --- --- --- PASS USP8 9101 broad.mit.edu 37 15 50733609 50733609 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:50733609G>A uc001zym.3 + 4 668 c.168G>A c.(166-168)GAG>GAA p.E56E USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Silent_p.E56E|USP8_uc001zyn.3_Silent_p.E56E|USP8_uc010ufh.1_Intron|USP8_uc010bev.1_5'UTR NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 56 MIT. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) ATCGTGATGAGGAAAGGGCCT 0.323 26 84 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 53815464 53815464 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:53815464G>C uc002acj.2 - 19 3246 c.3204C>G c.(3202-3204)GAC>GAG p.D1068E WDR72_uc010bfh.1_RNA NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1068 lung(1)|skin(1) 2 all cancers(107;0.0511) TGTCCTCCACGTCTTGGAAGT 0.363 42 366 --- --- --- --- PASS NOX5 79400 broad.mit.edu 37 15 69323869 69323869 + Nonsense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:69323869C>T uc002ars.1 + 4 357 c.337C>T c.(337-339)CAG>TAG p.Q113* NOX5_uc002arp.1_Nonsense_Mutation_p.Q95*|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002arr.1_Intron|NOX5_uc010bie.1_5'UTR|NOX5_uc010bif.1_5'Flank NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 113 Cytoplasmic (Potential).|EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GTGTGCACGGCAGGGGGCGTC 0.607 4 53 --- --- --- --- PASS THAP10 56906 broad.mit.edu 37 15 71184338 71184338 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:71184338C>A uc002asv.2 - 1 416 c.274G>T c.(274-276)GTG>TTG p.V92L LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank NM_020147 NP_064532 Q9P2Z0 THA10_HUMAN THAP domain containing 10 92 DNA binding|metal ion binding ovary(1)|skin(1) 2 GGGGCGGGCACCCGGTGCAGG 0.677 6 18 --- --- --- --- PASS THAP10 56906 broad.mit.edu 37 15 71184339 71184339 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:71184339C>A uc002asv.2 - 1 415 c.273G>T c.(271-273)CGG>CGT p.R91R LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank NM_020147 NP_064532 Q9P2Z0 THA10_HUMAN THAP domain containing 10 91 DNA binding|metal ion binding ovary(1)|skin(1) 2 GGGCGGGCACCCGGTGCAGGG 0.672 6 18 --- --- --- --- PASS THSD4 79875 broad.mit.edu 37 15 72057526 72057526 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:72057526C>A uc002atb.1 + 15 2836 c.2757C>A c.(2755-2757)ACC>ACA p.T919T THSD4_uc002ate.2_Silent_p.T559T|THSD4_uc002atg.1_Silent_p.T122T NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 919 TSP type-1 6. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 GGTTTAGCACCGAATGGAGCA 0.552 3 67 --- --- --- --- PASS FBXO22 26263 broad.mit.edu 37 15 76225439 76225439 + Missense_Mutation SNP A G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:76225439A>G uc002bbk.2 + 7 1313 c.1208A>G c.(1207-1209)AAA>AGA p.K403R FBXO22_uc002bbl.2_Missense_Mutation_p.K299R|FBXO22OS_uc002bbm.1_RNA NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 403 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 GGGTCATCTAAATAATAATTA 0.318 41 131 --- --- --- --- PASS ZNF592 9640 broad.mit.edu 37 15 85326498 85326498 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:85326498G>C uc002bld.2 + 4 928 c.592G>C c.(592-594)GAT>CAT p.D198H ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 198 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCATATGTTTGATCATTTTTG 0.552 22 174 --- --- --- --- PASS ZNF592 9640 broad.mit.edu 37 15 85327594 85327594 + Missense_Mutation SNP A C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:85327594A>C uc002bld.2 + 4 2024 c.1688A>C c.(1687-1689)AAC>ACC p.N563T ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 563 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACAGCTCCAACCCCGTGCCC 0.592 41 121 --- --- --- --- PASS DET1 55070 broad.mit.edu 37 15 89074851 89074851 + Nonsense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:89074851G>C uc002bmr.2 - 2 238 c.86C>G c.(85-87)TCA>TGA p.S29* DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Nonsense_Mutation_p.S40* NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 29 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) TGCCTTGCCTGAACTGATCCG 0.468 4 180 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89382026 89382026 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:89382026C>A uc010upo.1 + 3 577 c.203C>A c.(202-204)CCA>CAA p.P68Q ACAN_uc002bmx.2_Missense_Mutation_p.P68Q|ACAN_uc010upp.1_Missense_Mutation_p.P68Q|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 68 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCTACCGCCCCACTGGCCCCA 0.632 10 69 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89386799 89386799 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:89386799G>T uc010upo.1 + 6 1345 c.971G>T c.(970-972)GGC>GTC p.G324V ACAN_uc002bmx.2_Missense_Mutation_p.G324V|ACAN_uc010upp.1_Missense_Mutation_p.G324V|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 324 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AACCTCCTGGGCGTGAGGACC 0.687 13 47 --- --- --- --- PASS PLIN1 5346 broad.mit.edu 37 15 90213330 90213330 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr15:90213330G>T uc010upx.1 - 5 589 c.479C>A c.(478-480)ACT>AAT p.T160N PLIN1_uc002boh.2_Missense_Mutation_p.T160N NM_001145311 NP_001138783 O60240 PLIN1_HUMAN perilipin 1 160 triglyceride catabolic process lipid particle lipid binding central_nervous_system(1)|skin(1) 2 AAATTCCGCAGTGTCTCTGGC 0.632 4 36 --- --- --- --- PASS RHBDF1 64285 broad.mit.edu 37 16 111894 111894 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr16:111894C>A uc002cfl.3 - 11 1258 c.1110G>T c.(1108-1110)CCG>CCT p.P370P RHBDF1_uc010uty.1_Silent_p.P393P|RHBDF1_uc010utz.1_Silent_p.P370P|RHBDF1_uc010bqo.1_RNA NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 370 Cytoplasmic (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CCAGCCCATACGGCCGCTTCT 0.687 8 12 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18827849 18827849 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr16:18827849G>A uc002dfm.2 - 58 10440 c.10077C>T c.(10075-10077)GAC>GAT p.D3359D SMG1_uc010bwb.2_Silent_p.D3219D|SMG1_uc010bwa.2_Silent_p.D2090D NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3359 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CAAGACCAGTGTCCTAAATAG 0.388 6 54 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20331589 20331589 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr16:20331589G>A uc002dgv.2 - 6 945 c.862C>T c.(862-864)CTG>TTG p.L288L GP2_uc002dgw.2_Silent_p.L285L|GP2_uc002dgx.2_Silent_p.L141L|GP2_uc002dgy.2_Silent_p.L138L NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 288 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 CTTACCTCCAGAATGTTCCTG 0.458 17 142 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21065834 21065834 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr16:21065834C>G uc010vbe.1 - 28 3946 c.3946G>C c.(3946-3948)GAT>CAT p.D1316H NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1316 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GCAATCTGATCATTGCTCTTT 0.532 24 73 --- --- --- --- PASS PRKCB 5579 broad.mit.edu 37 16 24202448 24202448 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr16:24202448G>C uc002dmd.2 + 16 1957 c.1760G>C c.(1759-1761)GGA>GCA p.G587A PRKCB_uc002dme.2_Missense_Mutation_p.G587A NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 587 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) CTGGGTTGTGGACCTGAAGGC 0.433 38 136 --- --- --- --- PASS IL21R 50615 broad.mit.edu 37 16 27460372 27460372 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr16:27460372G>C uc002doq.1 + 9 1618 c.1385G>C c.(1384-1386)GGA>GCA p.G462A IL21R_uc002dor.1_Missense_Mutation_p.G462A|IL21R_uc002dos.1_Missense_Mutation_p.G462A|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 462 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 TGGGCTGGGGGACTGCCCTGG 0.662 T BCL6 NHL 21 61 --- --- --- --- PASS OGFOD1 55239 broad.mit.edu 37 16 56487240 56487240 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr16:56487240G>C uc002ejb.2 + 2 321 c.220G>C c.(220-222)GAC>CAC p.D74H OGFOD1_uc002ejc.2_5'UTR|NUDT21_uc002eja.2_5'Flank NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase 74 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) CCAAAGCCAAGACTTCTTAGA 0.393 28 148 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81161382 81161382 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr16:81161382G>T uc002fgh.1 - 38 6334 c.6334C>A c.(6334-6336)CGC>AGC p.R2112S PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2112 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTGCTTTGGCGATCAGTCCCC 0.512 16 29 --- --- --- --- PASS USP6 9098 broad.mit.edu 37 17 5039998 5039998 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:5039998C>G uc002gau.1 + 18 2958 c.728C>G c.(727-729)CCC>CGC p.P243R USP6_uc002gav.1_Missense_Mutation_p.P243R|USP6_uc010ckz.1_5'UTR|uc002gbb.2_5'Flank|uc002gbd.2_RNA NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 243 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CATGTGGTACCCAAGTCACAA 0.582 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 67 146 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577079 7577079 + Nonsense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:7577079C>A uc002gim.2 - 8 1053 c.859G>T c.(859-861)GAG>TAG p.E287* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E287*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E155*|TP53_uc010cng.1_Nonsense_Mutation_p.E155*|TP53_uc002gii.1_Nonsense_Mutation_p.E155*|TP53_uc010cnh.1_Nonsense_Mutation_p.E287*|TP53_uc010cni.1_Nonsense_Mutation_p.E287*|TP53_uc002gij.2_Nonsense_Mutation_p.E287* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 287 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> A (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.N288fs*13(17)|p.E287*(8)|p.0?(7)|p.E287K(6)|p.E287E(5)|p.E287G(2)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287V(1)|p.E287fs*17(1)|p.E287A(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.E285_L289delEEENL(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) CGGAGATTCTCTTCCTCTGTG 0.567 111 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) 32 54 --- --- --- --- PASS SLC25A35 399512 broad.mit.edu 37 17 8194247 8194247 + Missense_Mutation SNP C T T rs138474953 TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:8194247C>T uc002gla.3 - 4 687 c.642G>A c.(640-642)ATG>ATA p.M214I SLC25A35_uc002gku.1_Missense_Mutation_p.M214I|SLC25A35_uc002gkt.2_Missense_Mutation_p.M214I|SLC25A35_uc002gkz.1_RNA NM_201520 NP_958928 Q3KQZ1 S2535_HUMAN solute carrier family 25, member 35 214 Solcar 3.|Helical; Name=5; (Potential). transport integral to membrane|mitochondrial inner membrane 0 CAATGCCACTCATCATGGCAG 0.547 14 68 --- --- --- --- PASS GLP2R 9340 broad.mit.edu 37 17 9729400 9729400 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:9729400G>T uc002gmd.1 + 1 20 c.20G>T c.(19-21)AGG>ATG p.R7M GLP2R_uc010cog.1_RNA NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 7 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GGATCGAGCAGGGCAGGGCCT 0.637 8 26 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10298533 10298533 + Nonsense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:10298533C>A uc002gmm.2 - 34 4974 c.4879G>T c.(4879-4881)GAA>TAA p.E1627* uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1627 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ATTTCCATTTCATTCAGATCT 0.458 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 70 209 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27794161 27794161 + Splice_Site SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:27794161A>T uc002hdz.1 + 3 327 c.133_splice c.e3-2 p.A45_splice TAOK1_uc010wbe.1_Splice_Site_p.A45_splice|TAOK1_uc010wbf.1_Splice_Site_p.A45_splice NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) TTTCTTCTTTAGGCACGAGAT 0.353 26 71 --- --- --- --- PASS CCDC55 84081 broad.mit.edu 37 17 28506279 28506279 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:28506279G>A uc002heu.2 + 5 500 c.472G>A c.(472-474)GAA>AAA p.E158K CCDC55_uc002hev.2_Missense_Mutation_p.E104K|CCDC55_uc010wbl.1_Missense_Mutation_p.E104K|CCDC55_uc010wbm.1_Missense_Mutation_p.E104K|CCDC55_uc002hex.2_Missense_Mutation_p.E104K NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 158 Necessary for alternative splicing activity.|Potential. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 GAGAGCTGAAGAAGAAGAAAG 0.418 5 37 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29527558 29527558 + Nonsense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:29527558G>A uc002hgg.2 + 9 1340 c.1007G>A c.(1006-1008)TGG>TAG p.W336* NF1_uc002hge.1_Nonsense_Mutation_p.W336*|NF1_uc002hgf.1_Nonsense_Mutation_p.W336*|NF1_uc002hgh.2_Nonsense_Mutation_p.W336*|NF1_uc010csn.1_Nonsense_Mutation_p.W196* NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 336 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 p.?(2)|p.W336*(1) 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) TACATCAATTGGGAAGATAAC 0.393 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) 62 112 --- --- --- --- PASS PEX12 5193 broad.mit.edu 37 17 33904106 33904106 + Missense_Mutation SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:33904106G>C uc002hjp.2 - 2 1247 c.631C>G c.(631-633)CTG>GTG p.L211V NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 211 Peroxisomal matrix (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTGTGCTCCAGAGCTTGTATA 0.468 22 188 --- --- --- --- PASS SLC4A1 6521 broad.mit.edu 37 17 42328923 42328923 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:42328923C>A uc002igf.3 - 18 2494 c.2345G>T c.(2344-2346)CGC>CTC p.R782L NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 782 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CAGGGGGATGCGGGACAGGAT 0.632 31 47 --- --- --- --- PASS TTLL6 284076 broad.mit.edu 37 17 46868812 46868812 + Silent SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:46868812G>C uc010wlo.1 - 10 1187 c.1152C>G c.(1150-1152)CTC>CTG p.L384L TTLL6_uc002iob.2_Silent_p.L77L|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Silent_p.L137L|TTLL6_uc002iod.2_Silent_p.L231L NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 336 TTL. cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 AGGCGCTGTTGAGTGTGTGGT 0.527 OREG0024526 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 56 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901585 51901585 + Silent SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:51901585G>T uc002iua.2 + 1 1347 c.1191G>T c.(1189-1191)GTG>GTT p.V397V uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 397 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TGTGTTGTGTGGAGGAAGTGC 0.502 33 63 --- --- --- --- PASS SEC14L1 6397 broad.mit.edu 37 17 75210048 75210048 + Silent SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:75210048G>C uc002jto.2 + 17 2358 c.2091G>C c.(2089-2091)CTG>CTC p.L697L SEC14L1_uc010dhc.2_Silent_p.L697L|SEC14L1_uc010wth.1_Silent_p.L697L|SEC14L1_uc002jtm.2_Silent_p.L697L|SEC14L1_uc010wti.1_Silent_p.L663L|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 697 transport Golgi apparatus|integral to membrane binding ovary(2) 2 TCTCCCAGCTGAGTGCCGCCA 0.667 16 23 --- --- --- --- PASS ZNF750 79755 broad.mit.edu 37 17 80789004 80789004 + Nonsense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr17:80789004C>A uc002kga.2 - 2 1638 c.1327G>T c.(1327-1329)GGA>TGA p.G443* TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 443 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TAGAGTCTTCCCAGTGCGCTG 0.617 97 118 --- --- --- --- PASS TXNDC2 84203 broad.mit.edu 37 18 9886703 9886703 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr18:9886703G>A uc002koi.3 + 2 676 c.227G>A c.(226-228)CGC>CAC p.R76H TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.R9H NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 76 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 TTCCACATGCGCACAGAGGAG 0.572 5 105 --- --- --- --- PASS ESCO1 114799 broad.mit.edu 37 18 19154062 19154062 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr18:19154062C>A uc002kth.1 - 4 1677 c.743G>T c.(742-744)AGA>ATA p.R248I ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 248 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 CATTTTTGATCTTTTCACCTC 0.423 147 339 --- --- --- --- PASS MBD2 8932 broad.mit.edu 37 18 51750520 51750520 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr18:51750520C>G uc002lfg.1 - 1 639 c.410G>C c.(409-411)GGG>GCG p.G137A MBD2_uc002lfh.1_Missense_Mutation_p.G137A|SNORA37_uc002lfi.1_5'Flank NM_003927 NP_003918 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 isoform 1 137 Gly-rich. transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding 0 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) TCCCCTGGGCCCCGGCCCCGC 0.537 5 16 --- --- --- --- PASS ST8SIA3 51046 broad.mit.edu 37 18 55024483 55024483 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr18:55024483C>T uc002lgn.2 + 3 999 c.642C>T c.(640-642)ATC>ATT p.I214I NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 214 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) ACCCCAGCATCCTGGAAAAAT 0.408 20 118 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7141735 7141735 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:7141735C>A uc002mgd.1 - 13 2744 c.2635G>T c.(2635-2637)GGT>TGT p.G879C INSR_uc002mge.1_Missense_Mutation_p.G867C NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 879 Fibronectin type-III 3.|Extracellular (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACGATCAGACCATTGGGCTCC 0.498 21 34 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9084880 9084880 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:9084880G>T uc002mkp.2 - 1 7139 c.6935C>A c.(6934-6936)ACA>AAA p.T2312K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2312 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCTCCCAGTGTAATGGAGGG 0.488 11 33 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10071348 10071348 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:10071348G>T uc002mmq.1 - 66 5156 c.5070C>A c.(5068-5070)AGC>AGA p.S1690R NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1690 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCTGGGGGACGCTGACAGTGG 0.632 31 68 --- --- --- --- PASS PGLYRP2 114770 broad.mit.edu 37 19 15580462 15580462 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:15580462G>T uc002nbf.3 - 4 1755 c.1622C>A c.(1621-1623)ACC>AAC p.T541N PGLYRP2_uc002nbg.3_Missense_Mutation_p.T541N NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 541 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 GTGCGGCCAGGTGCGCAGCAG 0.731 4 3 --- --- --- --- PASS CHERP 10523 broad.mit.edu 37 19 16640580 16640580 + Silent SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:16640580T>C uc002nei.1 - 8 1082 c.1008A>G c.(1006-1008)CAA>CAG p.Q336Q MED26_uc002nee.2_Intron NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 336 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 gctgctgctgttgctgctgct 0.547 2 5 --- --- --- --- PASS UPF1 5976 broad.mit.edu 37 19 18971733 18971733 + Missense_Mutation SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:18971733G>A uc002nkg.2 + 17 2707 c.2432G>A c.(2431-2433)CGC>CAC p.R811H UPF1_uc002nkf.2_Missense_Mutation_p.R800H|UPF1_uc002nkh.2_Missense_Mutation_p.R55H NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 811 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 GAGGGCCAGCGCTCCTACCTG 0.632 5 10 --- --- --- --- PASS ZNF493 284443 broad.mit.edu 37 19 21606630 21606630 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:21606630C>T uc002npx.2 + 2 1065 c.785C>T c.(784-786)TCA>TTA p.S262L ZNF493_uc002npw.2_Missense_Mutation_p.S390L|ZNF493_uc002npy.2_Missense_Mutation_p.S262L NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 262 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTATTTTCTCAACCCTTACT 0.373 19 99 --- --- --- --- PASS WDR88 126248 broad.mit.edu 37 19 33628618 33628618 + Silent SNP T A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:33628618T>A uc002nui.2 + 2 390 c.312T>A c.(310-312)GCT>GCA p.A104A NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 104 WD 1. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) ACGAGCACGCTGTGAGCACCT 0.428 33 71 --- --- --- --- PASS ZNF585A 199704 broad.mit.edu 37 19 37644202 37644202 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:37644202G>T uc002ofo.1 - 5 830 c.599C>A c.(598-600)TCC>TAC p.S200Y ZNF585A_uc002ofm.1_Missense_Mutation_p.S145Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.S145Y NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 200 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTGAAGAGGGACGACACTTG 0.393 30 272 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38689102 38689102 + Silent SNP G A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:38689102G>A uc002ohk.2 + 19 5423 c.4914G>A c.(4912-4914)CTG>CTA p.L1638L NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1638 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACCCTGGGCTGATGCCCCTGC 0.687 32 204 --- --- --- --- PASS PRKD2 25865 broad.mit.edu 37 19 47181865 47181865 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:47181865C>T uc002pfh.2 - 17 2468 c.2126G>A c.(2125-2127)CGC>CAC p.R709H PRKD2_uc002pfd.2_Missense_Mutation_p.R83H|PRKD2_uc010eks.2_Missense_Mutation_p.R112H|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.R229H|PRKD2_uc002pff.2_Missense_Mutation_p.R229H|PRKD2_uc002pfg.2_Missense_Mutation_p.R552H|PRKD2_uc002pfi.2_Missense_Mutation_p.R709H|PRKD2_uc002pfj.2_Missense_Mutation_p.R709H|PRKD2_uc010xye.1_Missense_Mutation_p.R709H|PRKD2_uc002pfk.2_Missense_Mutation_p.R552H NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 709 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CACCACTGAGCGGCGGAACGA 0.627 14 52 --- --- --- --- PASS SIGLEC11 114132 broad.mit.edu 37 19 50462151 50462151 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:50462151T>C uc010ybh.1 - 7 1203 c.1112A>G c.(1111-1113)GAA>GGA p.E371G SIGLEC11_uc010ybi.1_Missense_Mutation_p.E371G NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 371 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CCCGAGGTTTTCCAGGACTAG 0.657 8 84 --- --- --- --- PASS SIGLEC8 27181 broad.mit.edu 37 19 51955814 51955814 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:51955814C>A uc002pwt.2 - 7 1386 c.1319G>T c.(1318-1320)GGG>GTG p.G440V SIGLEC8_uc010yda.1_Missense_Mutation_p.G331V|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.G347V NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 440 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCCTTCCTCCCCTGACGAGGG 0.577 34 108 --- --- --- --- PASS VSTM1 284415 broad.mit.edu 37 19 54567014 54567014 + Silent SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:54567014G>C uc002qcw.3 - 1 194 c.18C>G c.(16-18)CTC>CTG p.L6L VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.L6L NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 6 integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AAAGCAGGGAGAGGAATTCTG 0.607 23 252 --- --- --- --- PASS LILRB4 11006 broad.mit.edu 37 19 55176586 55176586 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:55176586C>A uc002qgp.2 + 6 1074 c.712C>A c.(712-714)CCT>ACT p.P238T LILRB4_uc002qgq.2_Missense_Mutation_p.P238T|LILRB4_uc010ers.1_3'UTR|LILRB4_uc002qgr.2_Missense_Mutation_p.P279T|LILRB4_uc010ert.2_Missense_Mutation_p.P279T|LILRB4_uc010eru.2_Missense_Mutation_p.P267T NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 238 Extracellular (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) CCCAGCAGGCCCTGAGGACCA 0.488 6 19 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55693178 55693178 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:55693178C>T uc002qjq.2 - 20 3365 c.3292G>A c.(3292-3294)GAA>AAA p.E1098K PTPRH_uc010esv.2_Missense_Mutation_p.E920K|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1098 Cytoplasmic (Potential). apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) ATGAGGTTTTCGACATCCTCA 0.592 22 201 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56424006 56424006 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:56424006C>A uc010ygg.1 - 5 1202 c.1177G>T c.(1177-1179)GTA>TTA p.V393L NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 393 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATGAAATATACCCGTAGGTCG 0.433 63 196 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56424007 56424007 + Silent SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:56424007C>A uc010ygg.1 - 5 1201 c.1176G>T c.(1174-1176)CGG>CGT p.R392R NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 392 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGAAATATACCCGTAGGTCGT 0.433 63 197 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56466738 56466738 + Missense_Mutation SNP A T T rs138591327 byFrequency TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:56466738A>T uc002qmh.2 + 3 1385 c.1314A>T c.(1312-1314)AGA>AGT p.R438S NLRP8_uc010etg.2_Missense_Mutation_p.R438S NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 438 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTCCCACCAGAGCTGAGAACT 0.478 51 144 --- --- --- --- PASS ZIM2 23619 broad.mit.edu 37 19 57286858 57286858 + Missense_Mutation SNP T C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:57286858T>C uc002qnr.2 - 11 1164 c.782A>G c.(781-783)AAC>AGC p.N261S uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.N57S|ZIM2_uc010ygr.1_Missense_Mutation_p.N57S|ZIM2_uc002qnq.2_Missense_Mutation_p.N261S|ZIM2_uc010etp.2_Missense_Mutation_p.N261S|ZIM2_uc010ygs.1_Missense_Mutation_p.N261S NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) TTTCTCTTGGTTGCCCTGGTG 0.458 50 122 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328312 57328312 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:57328312C>A uc002qnu.2 - 7 1849 c.1498G>T c.(1498-1500)GTT>TTT p.V500F 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.V471F|PEG3_uc002qnv.2_Missense_Mutation_p.V500F|PEG3_uc002qnw.2_Missense_Mutation_p.V376F|PEG3_uc002qnx.2_Missense_Mutation_p.V374F|PEG3_uc010etr.2_Missense_Mutation_p.V500F NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 500 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) TTCCCTCCAACCTGACTTTTC 0.443 64 216 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328313 57328313 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr19:57328313C>A uc002qnu.2 - 7 1848 c.1497G>T c.(1495-1497)CAG>CAT p.Q499H 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.Q470H|PEG3_uc002qnv.2_Missense_Mutation_p.Q499H|PEG3_uc002qnw.2_Missense_Mutation_p.Q375H|PEG3_uc002qnx.2_Missense_Mutation_p.Q373H|PEG3_uc010etr.2_Missense_Mutation_p.Q499H NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 499 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) TCCCTCCAACCTGACTTTTCT 0.443 65 215 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2384303 2384303 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr20:2384303C>A uc002wfy.1 + 9 1231 c.1170C>A c.(1168-1170)TTC>TTA p.F390L TGM6_uc010gal.1_Missense_Mutation_p.F390L NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 390 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) ATGGCCCCTTCGTGTTTGCGG 0.617 45 83 --- --- --- --- PASS MACROD2 140733 broad.mit.edu 37 20 14665530 14665530 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr20:14665530G>T uc002wou.2 + 5 607 c.343G>T c.(343-345)GCT>TCT p.A115S MACROD2_uc002wot.2_Missense_Mutation_p.A115S|MACROD2_uc002wox.2_RNA NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 115 Macro. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) CTGTTTGCTAGCTGAATGTCG 0.408 57 226 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33328762 33328762 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr20:33328762C>T uc002xav.2 - 12 7869 c.5298G>A c.(5296-5298)TTG>TTA p.L1766L NCOA6_uc002xaw.2_Silent_p.L1766L NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1766 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CATCTGGATTCAATTCTTTCA 0.507 19 88 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33370155 33370155 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr20:33370155C>T uc002xav.2 - 4 2575 c.4G>A c.(4-6)GTT>ATT p.V2I NCOA6_uc002xaw.2_Missense_Mutation_p.V2I|NCOA6_uc010gew.1_Missense_Mutation_p.V2I NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 2 TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 TCATCCAAAACCATGGTGAAT 0.363 33 84 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37536831 37536831 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr20:37536831G>T uc002xje.2 + 10 1378 c.1189G>T c.(1189-1191)GAC>TAC p.D397Y PPP1R16B_uc010ggc.2_Missense_Mutation_p.D355Y NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 397 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AGAGAATAAGGACCCTGTGAG 0.612 20 45 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47266097 47266097 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr20:47266097A>T uc002xtw.1 - 25 3069 c.3046T>A c.(3046-3048)TCG>ACG p.S1016T PREX1_uc002xtv.1_Missense_Mutation_p.S313T NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1016 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGGGTGTACGACATGGGGTTC 0.587 4 22 --- --- --- --- PASS APCDD1L 164284 broad.mit.edu 37 20 57042215 57042215 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr20:57042215C>T uc002xze.1 - 3 874 c.688G>A c.(688-690)GAG>AAG p.E230K APCDD1L_uc010zzp.1_Missense_Mutation_p.E241K NM_153360 NP_699191 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 230 integral to membrane ovary(1) 1 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) TGCCGCCTCTCCGCCGGGTCG 0.736 12 21 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22656553 22656553 + Missense_Mutation SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr21:22656553A>T uc002yld.1 + 3 419 c.170A>T c.(169-171)CAA>CTA p.Q57L NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.Q82L NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 57 Ig-like C2-type 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TATAATCCTCAAGGAGAGAAG 0.358 27 72 --- --- --- --- PASS FTCD 10841 broad.mit.edu 37 21 47557212 47557212 + Missense_Mutation SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr21:47557212C>T uc002zif.2 - 13 1524 c.1480G>A c.(1480-1482)GCA>ACA p.A494T FTCD_uc002zie.2_RNA|FTCD_uc002zig.2_Missense_Mutation_p.A494T|FTCD_uc002zih.2_Missense_Mutation_p.A494T|FTCD_uc010gqf.2_Missense_Mutation_p.R479H|FTCD_uc010gqg.1_Missense_Mutation_p.A363T NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 494 Cyclodeaminase/cyclohydrolase (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TTGAAATATGCGCCAAACACG 0.607 4 144 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47777037 47777037 + Silent SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr21:47777037A>T uc002zji.3 + 13 2192 c.2085A>T c.(2083-2085)CTA>CTT p.L695L PCNT_uc002zjj.2_Silent_p.L577L NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 695 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TTGAACTCCTAAAAATAGAAA 0.483 57 96 --- --- --- --- PASS IGLL1 3543 broad.mit.edu 37 22 23917219 23917219 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr22:23917219C>A uc002zxd.2 - 2 375 c.257G>T c.(256-258)GGG>GTG p.G86V IGLL1_uc002zxe.2_Intron NM_020070 NP_064455 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 isoform 86 immune response extracellular region|membrane 0 GGATTGAAACCCCCGGGGCCA 0.617 9 77 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26164642 26164642 + Silent SNP G C C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr22:26164642G>C uc003abz.1 + 4 1009 c.759G>C c.(757-759)CTG>CTC p.L253L MYO18B_uc003aca.1_Silent_p.L134L|MYO18B_uc010guy.1_Silent_p.L134L|MYO18B_uc010guz.1_Silent_p.L134L|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 253 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCACAGAGCTGAAAGAGGCTG 0.637 3 13 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32205622 32205622 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr22:32205622G>T uc003als.2 + 19 1455 c.1313G>T c.(1312-1314)GGC>GTC p.G438V DEPDC5_uc011als.1_Missense_Mutation_p.G438V|DEPDC5_uc011alu.1_Missense_Mutation_p.G438V|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.G438V|DEPDC5_uc003alr.1_Missense_Mutation_p.G438V|DEPDC5_uc011alt.1_Missense_Mutation_p.G410V NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 438 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GCAAAAAATGGCCGTGATACA 0.274 20 90 --- --- --- --- PASS SLC5A1 6523 broad.mit.edu 37 22 32482219 32482219 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr22:32482219G>T uc003amc.2 + 10 1266 c.1034G>T c.(1033-1035)TGT>TTT p.C345F SLC5A1_uc011alz.1_Missense_Mutation_p.C218F NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 345 Extracellular (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 AAAATTGCCTGTGTCGTCCCT 0.418 53 180 --- --- --- --- PASS SH3BP1 23616 broad.mit.edu 37 22 38039103 38039103 + Splice_Site SNP A T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chr22:38039103A>T uc003ati.2 + 6 508 c.397_splice c.e6-2 p.E133_splice SH3BP1_uc003atg.1_Splice_Site|SH3BP1_uc011anl.1_Splice_Site_p.E133_splice|SH3BP1_uc003ath.1_Splice_Site_p.E133_splice|SH3BP1_uc003atj.1_Splice_Site_p.E69_splice|SH3BP1_uc003atk.1_Splice_Site_p.E47_splice|uc003atl.1_Intron NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) GCCCATCCCCAGGAGGAGCTG 0.637 OREG0026546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 --- --- --- --- PASS STS 412 broad.mit.edu 37 X 7223133 7223133 + Silent SNP C T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:7223133C>T uc004cry.3 + 7 1250 c.1005C>T c.(1003-1005)ACC>ACT p.T335T NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 335 Lumenal. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CTAATGATACCCTCATCTACT 0.413 Ichthyosis 25 48 --- --- --- --- PASS MSL3 10943 broad.mit.edu 37 X 11786713 11786713 + Nonsense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:11786713C>A uc004cuw.2 + 10 1298 c.1193C>A c.(1192-1194)TCA>TAA p.S398* MSL3_uc004cux.2_Nonsense_Mutation_p.S339*|MSL3_uc011mig.1_Nonsense_Mutation_p.S249*|MSL3_uc011mih.1_Nonsense_Mutation_p.S386*|MSL3_uc004cuy.2_Nonsense_Mutation_p.S232* NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 398 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CATAGCAGATCATCTTCACCT 0.398 28 55 --- --- --- --- PASS SCML2 10389 broad.mit.edu 37 X 18323182 18323182 + Missense_Mutation SNP C G G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:18323182C>G uc004cyl.2 - 7 797 c.640G>C c.(640-642)GAT>CAT p.D214H SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.D214H|SCML2_uc011miz.1_Missense_Mutation_p.D148H NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 214 MBT 2. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) CACCAGTAATCAAAAGCTCCA 0.438 56 152 --- --- --- --- PASS FAM47B 170062 broad.mit.edu 37 X 34962134 34962134 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:34962134C>A uc004ddi.1 + 1 1204 c.1186C>A c.(1186-1188)CAT>AAT p.H396N NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 396 ovary(3)|breast(1) 4 TCGGATGCCCCATCTCCGCCT 0.572 11 25 --- --- --- --- PASS PHF8 23133 broad.mit.edu 37 X 54049215 54049215 + Nonsense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:54049215C>A uc004dsu.2 - 3 341 c.268G>T c.(268-270)GAA>TAA p.E90* PHF8_uc004dst.2_Nonsense_Mutation_p.E54*|PHF8_uc004dsw.2_Nonsense_Mutation_p.E54*|PHF8_uc004dsy.2_Nonsense_Mutation_p.E54* NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 90 PHD-type. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 TGCAAGACTTCACAGTTGGGG 0.438 14 18 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54949443 54949443 + Nonsense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:54949443G>T uc004dtq.2 + 3 585 c.478G>T c.(478-480)GAG>TAG p.E160* TRO_uc011moj.1_Nonsense_Mutation_p.E103*|TRO_uc004dts.2_Nonsense_Mutation_p.E160*|TRO_uc004dtr.2_Nonsense_Mutation_p.E160*|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 160 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 AACTGGCCATGAGGGTGGCAC 0.507 11 18 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75649297 75649297 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:75649297G>T uc004ecm.1 + 1 1181 c.974G>T c.(973-975)GGT>GTT p.G325V NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 325 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CCCACCCCTGGTGGGGGACTG 0.701 8 11 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91133883 91133883 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:91133883C>A uc004efk.1 + 2 3489 c.2644C>A c.(2644-2646)CTG>ATG p.L882M PCDH11X_uc004efl.1_Missense_Mutation_p.L882M|PCDH11X_uc004efo.1_Missense_Mutation_p.L882M|PCDH11X_uc010nmv.1_Missense_Mutation_p.L882M|PCDH11X_uc004efm.1_Missense_Mutation_p.L882M|PCDH11X_uc004efn.1_Missense_Mutation_p.L882M|PCDH11X_uc004efh.1_Missense_Mutation_p.L882M|PCDH11X_uc004efj.1_Missense_Mutation_p.L882M NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 882 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TAAGAACTTGCTGCTTAATTT 0.358 35 44 --- --- --- --- PASS DCX 1641 broad.mit.edu 37 X 110644366 110644366 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:110644366C>A uc004epd.2 - 3 972 c.800G>T c.(799-801)CGC>CTC p.R267L DCX_uc011msv.1_Missense_Mutation_p.R267L|DCX_uc004epe.2_Missense_Mutation_p.R186L|DCX_uc004epf.2_Missense_Mutation_p.R186L|DCX_uc004epg.2_Missense_Mutation_p.R186L NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 267 Doublecortin 2. R -> C (in SBHX). axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 CACCCCACTGCGGATGATGGT 0.537 71 62 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135430658 135430658 + Missense_Mutation SNP G T T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:135430658G>T uc004ezu.1 + 6 5084 c.4793G>T c.(4792-4794)AGG>ATG p.R1598M GPR112_uc010nsb.1_Missense_Mutation_p.R1393M|GPR112_uc010nsc.1_Missense_Mutation_p.R1365M NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1598 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GTTACCCCCAGGACTACTATG 0.408 96 127 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135430659 135430659 + Silent SNP G A A rs149903703 by1000genomes TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:135430659G>A uc004ezu.1 + 6 5085 c.4794G>A c.(4792-4794)AGG>AGA p.R1598R GPR112_uc010nsb.1_Silent_p.R1393R|GPR112_uc010nsc.1_Silent_p.R1365R NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1598 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TTACCCCCAGGACTACTATGA 0.413 95 127 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140994850 140994850 + Missense_Mutation SNP C A A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:140994850C>A uc004fbt.2 + 4 1946 c.1660C>A c.(1660-1662)CAG>AAG p.Q554K MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 554 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GAGCCCTCCTCAGGGGGAGGA 0.567 HNSCC(15;0.026) 211 245 --- --- --- --- PASS SPANXN3 139067 broad.mit.edu 37 X 142596756 142596756 + Missense_Mutation SNP C A A rs113043096 TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 640ff507-203c-45aa-8bc1-030ee8639b5d 8b234cc2-4308-4537-ad5b-f6df232ff846 g.chrX:142596756C>A uc004fbw.2 - 2 402 c.314G>T c.(313-315)TGT>TTT p.C105F NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN SPANX-N3 protein 105 ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AGGTCCTTCACATGGGCCTAG 0.468 91 100 --- --- --- --- PASS