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 PRAMEF6 440561 broad.mit.edu 37 1 13001287 13001287 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:13001287T>A uc001auq.2 - 3 482 c.396A>T c.(394-396)AAA>AAT p.K132N PRAMEF5_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN PRAME family member 6 132 0 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCACTGGTGTTTTGTTCCTCT 0.493 26 849 --- --- --- --- PASS C1QC 714 broad.mit.edu 37 1 22973781 22973781 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:22973781C>A uc001bgc.3 + 3 346 c.243C>A c.(241-243)CCC>CCA p.P81P C1QC_uc001bga.3_Silent_p.P81P|C1QC_uc001bgb.2_Silent_p.P81P NM_172369 NP_758957 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 81 Collagen-like. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCGGCTTACCCGGCCATCCTG 0.532 23 60 --- --- --- --- PASS MAN1C1 57134 broad.mit.edu 37 1 26104631 26104631 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:26104631G>A uc001bkm.2 + 9 1623 c.1293G>A c.(1291-1293)GGG>GGA p.G431G MAN1C1_uc009vry.1_Silent_p.G251G|MAN1C1_uc001bkn.2_5'Flank NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 431 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) TCTCTCCCGGGGGGCTGACCT 0.642 33 55 --- --- --- --- PASS TMEM39B 55116 broad.mit.edu 37 1 32542890 32542890 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:32542890C>T uc010ogv.1 + 5 707 c.561C>T c.(559-561)TCC>TCT p.S187S TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Silent_p.S60S|TMEM39B_uc001bue.3_Silent_p.S187S|TMEM39B_uc001buf.3_Intron|TMEM39B_uc010ogw.1_Intron NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 187 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GGACCTACTCCTTCCTGAACC 0.597 28 80 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43775130 43775130 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:43775130C>G uc001ciu.2 + 9 1339 c.1260C>G c.(1258-1260)GAC>GAG p.D420E TIE1_uc010okd.1_Missense_Mutation_p.D420E|TIE1_uc010oke.1_Missense_Mutation_p.D375E|TIE1_uc009vwq.2_Missense_Mutation_p.D376E|TIE1_uc010okf.1_Missense_Mutation_p.D65E|TIE1_uc010okg.1_Missense_Mutation_p.D65E|TIE1_uc010okc.1_3'UTR NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 420 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTCTTGCGGACAGTGGGTTCT 0.582 27 40 --- --- --- --- PASS DMAP1 55929 broad.mit.edu 37 1 44685876 44685876 + Silent SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:44685876C>G uc001clq.1 + 10 1319 c.1239C>G c.(1237-1239)GGC>GGG p.G413G DMAP1_uc001clr.1_Silent_p.G413G|DMAP1_uc001cls.1_Silent_p.G413G|DMAP1_uc010oku.1_Silent_p.G403G NM_001034024 NP_001029196 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 413 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding 0 Acute lymphoblastic leukemia(166;0.155) CAGCATCAGGCCCAGGCCCGG 0.662 OREG0013438 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 11 --- --- --- --- PASS CCDC17 149483 broad.mit.edu 37 1 46088752 46088752 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:46088752C>A uc010olt.1 - 4 679 c.531G>T c.(529-531)CGG>CGT p.R177R CCDC17_uc009vxy.2_Silent_p.R145R|CCDC17_uc010ols.1_Silent_p.R168R|CCDC17_uc001com.3_5'UTR|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron NM_001114938 NP_001108410 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 177 Potential. ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACATCCCGCCCCGCGTACAGG 0.657 7 11 --- --- --- --- PASS PIK3R3 8503 broad.mit.edu 37 1 46521483 46521483 + Nonsense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:46521483G>A uc001cpb.3 - 7 1681 c.925C>T c.(925-927)CGA>TGA p.R309* PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Nonsense_Mutation_p.R326*|PIK3R3_uc001cpc.3_Nonsense_Mutation_p.R309*|PIK3R3_uc010olw.1_Nonsense_Mutation_p.R355*|PIK3R3_uc010olv.1_Nonsense_Mutation_p.R99* NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 309 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) TGTTGATCTCGGATCTTTCGC 0.458 6 237 --- --- --- --- PASS TCTEX1D1 200132 broad.mit.edu 37 1 67236120 67236120 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:67236120T>C uc001dcv.2 + 3 301 c.170T>C c.(169-171)ATC>ACC p.I57T TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA NM_152665 NP_689878 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 57 0 CGTGATGATATCTCTCGCCTT 0.338 69 257 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75684328 75684328 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:75684328T>C uc001dgu.2 - 17 1520 c.1376A>G c.(1375-1377)TAC>TGC p.Y459C SLC44A5_uc001dgt.2_Missense_Mutation_p.Y459C|SLC44A5_uc001dgs.2_Missense_Mutation_p.Y417C|SLC44A5_uc001dgr.2_Missense_Mutation_p.Y417C|SLC44A5_uc010oqz.1_Missense_Mutation_p.Y498C|SLC44A5_uc010ora.1_Missense_Mutation_p.Y453C|SLC44A5_uc010orb.1_Missense_Mutation_p.Y329C NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 459 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 AAATAAGTTGTATACATGGAA 0.433 40 83 --- --- --- --- PASS USP33 23032 broad.mit.edu 37 1 78163019 78163019 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:78163019C>T uc001dht.2 - 25 3159 c.2812G>A c.(2812-2814)GAA>AAA p.E938K USP33_uc009wca.1_RNA|USP33_uc001dhs.2_3'UTR|USP33_uc001dhu.2_Missense_Mutation_p.E907K NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 938 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 GACCGAGTTTCTACTTCAATT 0.398 39 127 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86306919 86306919 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:86306919G>C uc001dlj.2 - 42 3655 c.3613C>G c.(3613-3615)CCT>GCT p.P1205A COL24A1_uc001dli.2_Missense_Mutation_p.P341A|COL24A1_uc010osd.1_Missense_Mutation_p.P505A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1205 Collagen-like 13. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TCACCTCGAGGCCCAGGTGGT 0.318 23 73 --- --- --- --- PASS LPPR4 9890 broad.mit.edu 37 1 99771562 99771562 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:99771562A>G uc001dse.2 + 7 1394 c.1288A>G c.(1288-1290)AGA>GGA p.R430G LPPR4_uc010oue.1_Missense_Mutation_p.R372G NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 430 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGACCCTGTCAGAAGAAATGC 0.493 33 65 --- --- --- --- PASS VCAM1 7412 broad.mit.edu 37 1 101196814 101196814 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:101196814C>A uc001dti.2 + 6 1385 c.1265C>A c.(1264-1266)ACT>AAT p.T422N VCAM1_uc001dtj.2_Missense_Mutation_p.T330N|VCAM1_uc010ouj.1_Missense_Mutation_p.T360N NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 422 Ig-like C2-type 5.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGCTCTGTCACTGTAAGCTGC 0.448 30 69 --- --- --- --- PASS FAM40A 85369 broad.mit.edu 37 1 110594511 110594511 + Splice_Site SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:110594511T>A uc001dza.1 + 20 2285 c.2266_splice c.e20+2 p.D756_splice FAM40A_uc001dyz.1_Splice_Site_p.D661_splice|FAM40A_uc009wfp.1_Splice_Site_p.D580_splice NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) ACGGCAATGGTGAGACTCTGC 0.562 20 44 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118548128 118548128 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:118548128T>C uc001ehk.2 - 32 4753 c.4685A>G c.(4684-4686)AAG>AGG p.K1562R NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1562 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTGCTCACGCTTTTGAAAAGG 0.448 25 83 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118554860 118554860 + Nonsense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:118554860G>A uc001ehk.2 - 30 4491 c.4423C>T c.(4423-4425)CAA>TAA p.Q1475* NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1475 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTGTTTCTTGATCATCTGGC 0.338 46 114 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144879133 144879133 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:144879133C>G uc001elw.3 - 27 4608 c.4317G>C c.(4315-4317)GAG>GAC p.E1439D 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.E1395D|PDE4DIP_uc001elv.3_Missense_Mutation_p.E446D NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1439 Potential. 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) GGATGAGACTCTCCAGGTCCT 0.562 T PDGFRB MPD 45 208 --- --- --- --- PASS GJA8 2703 broad.mit.edu 37 1 147380454 147380454 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:147380454G>T uc001epu.1 + 2 435 c.372G>T c.(370-372)CCG>CCT p.P124P NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 124 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity p.P124L(1) ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) ACGGCGGCCCGGACCAGGGCA 0.642 15 25 --- --- --- --- PASS LOC200030 200030 broad.mit.edu 37 1 148344739 148344739 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:148344739T>A uc001eqf.2 - 2 214 c.179A>T c.(178-180)TAT>TTT p.Y60F LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron|uc001erd.3_Missense_Mutation_p.Y60F|uc001erc.3_Intron|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Missense_Mutation_p.Y60F|uc010paw.1_Intron NM_017940 NP_060410 Q86T75 NBPFB_HUMAN hypothetical protein LOC55672 60 cytoplasm 0 ACACTCTTCATAGTCTGAGAA 0.517 15 378 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152281121 152281121 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:152281121C>G uc001ezu.1 - 3 6277 c.6241G>C c.(6241-6243)GGG>CGG p.G2081R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2081 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTTTCCCCTGACTGGCCA 0.567 Ichthyosis 7 474 --- --- --- --- PASS NPR1 4881 broad.mit.edu 37 1 153659831 153659831 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:153659831C>A uc001fcs.3 + 13 2512 c.2091C>A c.(2089-2091)GCC>GCA p.A697A NPR1_uc010pdz.1_Silent_p.A443A|NPR1_uc010pea.1_Silent_p.A175A NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 697 Cytoplasmic (Potential).|Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CCGTTTATGCCAGTGAGCCTT 0.512 21 35 --- --- --- --- PASS EFNA3 1944 broad.mit.edu 37 1 155058639 155058639 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:155058639C>A uc001fhf.2 + 4 614 c.544C>A c.(544-546)CCC>ACC p.P182T EFNA3_uc010pew.1_Missense_Mutation_p.P177T|EFNA3_uc010pex.1_Intron|EFNA3_uc001fhg.2_Missense_Mutation_p.P159T NM_004952 NP_004943 P52797 EFNA3_HUMAN ephrin A3 precursor 182 cell-cell signaling anchored to membrane|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity 0 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) CCCCACTCTCCCCCAGTTCAC 0.692 OREG0013850 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 39 --- --- --- --- PASS MEX3A 92312 broad.mit.edu 37 1 156047322 156047322 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:156047322C>A uc001fnd.3 - 2 606 c.606G>T c.(604-606)ATG>ATT p.M202I NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 202 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) AGGCACGGATCATGGAGAAGT 0.667 5 17 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157667699 157667699 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:157667699G>T uc001frb.2 - 5 601 c.309C>A c.(307-309)ATC>ATA p.I103I FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.I103I|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Silent_p.I103I NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 103 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) AAGCCTGCAGGATCAGCCAGT 0.463 25 34 --- --- --- --- PASS OR10Z1 128368 broad.mit.edu 37 1 158576965 158576965 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:158576965C>G uc010pio.1 + 1 737 c.737C>G c.(736-738)ACA>AGA p.T246R NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TCGCACCTTACAGTGGTCATT 0.502 79 187 --- --- --- --- PASS OR6K2 81448 broad.mit.edu 37 1 158670043 158670043 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:158670043T>C uc001fsu.1 - 1 400 c.400A>G c.(400-402)ATC>GTC p.I134V NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GGGGTCATGATAGAGGGATAA 0.478 36 71 --- --- --- --- PASS OR10J3 441911 broad.mit.edu 37 1 159284278 159284278 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:159284278T>A uc010piu.1 - 1 172 c.172A>T c.(172-174)ACC>TCC p.T58S NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) TACATGGGGGTGTGAAGATGA 0.453 60 136 --- --- --- --- PASS FCGR2C 9103 broad.mit.edu 37 1 161560953 161560953 + Silent SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:161560953C>G uc001gav.2 + 5 510 c.411C>G c.(409-411)ACC>ACG p.T137T FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA NM_201563 NP_963857 Fc fragment of IgG, low affinity IIc, receptor 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGCTCCAGACCCCTCACCTGG 0.552 5 16 --- --- --- --- PASS C1orf110 339512 broad.mit.edu 37 1 162824606 162824606 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:162824606C>A uc001gck.2 - 4 1033 c.858G>T c.(856-858)AGG>AGT p.R286S C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.R285S NM_178550 NP_848645 Q86UF4 CA110_HUMAN hypothetical protein LOC339512 286 0 CCTTTCCTGCCCTGGATGATG 0.468 49 94 --- --- --- --- PASS TADA1 117143 broad.mit.edu 37 1 166839015 166839015 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:166839015G>A uc001gdw.2 - 2 335 c.151C>T c.(151-153)CTC>TTC p.L51F TADA1_uc009wve.2_Missense_Mutation_p.L51F NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 51 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 TCCTGTGTGAGAAGTCTATGA 0.353 71 182 --- --- --- --- PASS MAEL 84944 broad.mit.edu 37 1 166987183 166987183 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:166987183C>A uc001gdy.1 + 10 1099 c.1028C>A c.(1027-1029)GCA>GAA p.A343E MAEL_uc001gdz.1_Missense_Mutation_p.A312E|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 343 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 GTATTGGATGCAGGGCGTTAC 0.458 33 96 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169510187 169510187 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:169510187G>T uc001ggg.1 - 13 4286 c.4141C>A c.(4141-4143)CAG>AAG p.Q1381K NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1381 B.|2-22.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGGTTTGTCTGACTGAGTTCT 0.537 85 128 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175092777 175092777 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:175092777G>T uc001gkl.1 + 12 3005 c.2892G>T c.(2890-2892)AAG>AAT p.K964N NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 964 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGAGCAAGAAGGCTGACACCA 0.617 34 80 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175355202 175355202 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:175355202G>T uc001gkp.1 - 6 1824 c.1743C>A c.(1741-1743)AAC>AAA p.N581K TNR_uc009wwu.1_Missense_Mutation_p.N581K NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 581 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AATCGCTCTCGTTGGTCCCTC 0.632 40 103 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177250056 177250056 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:177250056C>T uc001glf.2 + 8 2056 c.1744C>T c.(1744-1746)CTG>TTG p.L582L FAM5B_uc001glg.2_Silent_p.L477L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 582 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GAACAGCACCCTGGAGCCTGT 0.567 13 34 --- --- --- --- PASS SEC16B 89866 broad.mit.edu 37 1 177913756 177913756 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:177913756C>A uc001gli.1 - 15 1911 c.1821G>T c.(1819-1821)ACG>ACT p.T607T SEC16B_uc001glk.1_Silent_p.T284T|SEC16B_uc009wwy.1_Silent_p.T162T|SEC16B_uc001glh.1_Silent_p.T266T|SEC16B_uc009wwz.1_Silent_p.T266T|SEC16B_uc001glj.1_Silent_p.T608T NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 607 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 CGAAGATTTCCGTCCTCTGGA 0.483 59 161 --- --- --- --- PASS RALGPS2 55103 broad.mit.edu 37 1 178745918 178745918 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:178745918C>A uc001glz.2 + 2 357 c.19C>A c.(19-21)CAG>AAG p.Q7K RALGPS2_uc001gly.1_Missense_Mutation_p.Q7K|RALGPS2_uc010pnb.1_Missense_Mutation_p.Q7K NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 7 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 AATGAACGGGCAGGCAAGCAG 0.423 14 40 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 179989082 179989082 + Splice_Site SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:179989082A>G uc001gnt.2 + 12 2558 c.2175_splice c.e12-2 p.R725_splice CEP350_uc009wxl.2_Splice_Site_p.R724_splice|CEP350_uc001gnu.2_Splice_Site_p.R559_splice NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 centrosome|nucleus|spindle ovary(4) 4 TTTCATTTCCAGAAAAGACTT 0.294 48 126 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186331476 186331476 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:186331476T>A uc001grv.2 - 7 1030 c.733A>T c.(733-735)ACA>TCA p.T245S TPR_uc010pop.1_Missense_Mutation_p.T321S NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 245 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TCATTTGATGTTTTTAAGCCA 0.318 T NTRK1 papillary thyroid 38 68 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190250791 190250791 + Missense_Mutation SNP C T T rs144952455 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:190250791C>T uc001gse.1 - 3 558 c.326G>A c.(325-327)CGC>CAC p.R109H FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 109 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCTTATGTTGCGGAAGAATTC 0.448 46 107 --- --- --- --- PASS CFHR1 3078 broad.mit.edu 37 1 196797367 196797367 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:196797367C>G uc001gtn.2 + 4 712 c.598C>G c.(598-600)CAA>GAA p.Q200E CFHR1_uc001gtm.2_Missense_Mutation_p.Q104E NM_002113 NP_002104 Q03591 FHR1_HUMAN complement factor H-related 1 precursor 200 Sushi 3. complement activation extracellular space 0 AGAACCACCTCAATGCAAAGG 0.338 4 237 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196887531 196887531 + Nonsense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:196887531G>T uc001gto.2 + 6 1060 c.991G>T c.(991-993)GAA>TAA p.E331* CFHR4_uc009wyy.2_Nonsense_Mutation_p.E577*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.E578* NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 331 Sushi 5. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 CCCCAGATGCGAATAAGGCAG 0.373 43 142 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196946815 196946815 + Silent SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:196946815A>T uc001gts.3 + 1 149 c.21A>T c.(19-21)GTA>GTT p.V7V NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 7 complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 TATTCAGTGTAATCCTAATCT 0.353 56 130 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197072093 197072093 + Silent SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:197072093T>A uc001gtu.2 - 18 6545 c.6288A>T c.(6286-6288)ACA>ACT p.T2096T ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2096 IQ 16. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTTTAATTGCTGTCTTCTTCA 0.333 61 155 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390630 197390630 + Missense_Mutation SNP A T T rs115811272 by1000genomes TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:197390630A>T uc001gtz.2 + 6 1807 c.1672A>T c.(1672-1674)ATT>TTT p.I558F CRB1_uc010poz.1_Missense_Mutation_p.I489F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.I446F|CRB1_uc010ppb.1_Missense_Mutation_p.I558F|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.I39F|CRB1_uc001gub.1_Missense_Mutation_p.I207F NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 558 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GCTTCTGTTCATTTCCCACAA 0.453 55 144 --- --- --- --- PASS NEK2 4751 broad.mit.edu 37 1 211836894 211836894 + Silent SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:211836894G>C uc001hir.1 - 8 1358 c.1212C>G c.(1210-1212)CTC>CTG p.L404L NEK2_uc001hiq.1_Silent_p.L396L NM_002497 NP_002488 P51955 NEK2_HUMAN NIMA-related kinase 2 404 Necessary for interaction with MAD1L1.|Interaction with SAV1 and STK3.|Interaction with PCNT. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) ACTTAGATGTGAGCTGACTCT 0.423 36 87 --- --- --- --- PASS ANGEL2 90806 broad.mit.edu 37 1 213173694 213173694 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:213173694T>C uc001hjz.2 - 7 1448 c.1293A>G c.(1291-1293)CAA>CAG p.Q431Q ANGEL2_uc010pto.1_Silent_p.Q305Q|ANGEL2_uc010ptp.1_Silent_p.Q305Q|ANGEL2_uc001hka.2_Silent_p.Q262Q|ANGEL2_uc010ptq.1_RNA NM_144567 NP_653168 Q5VTE6 ANGE2_HUMAN LOC90806 protein 431 0 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) GGACCTCTGTTTGCTTCAGCT 0.338 33 94 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216166490 216166490 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:216166490C>A uc001hku.1 - 35 7064 c.6677G>T c.(6676-6678)TGC>TTC p.C2226F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2226 Extracellular (Potential).|Fibronectin type-III 8. 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) ACTCACTGTGCACCCACCACC 0.478 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 100 --- --- --- --- PASS BPNT1 10380 broad.mit.edu 37 1 220253147 220253147 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:220253147G>A uc001hma.2 - 2 214 c.42C>T c.(40-42)TCC>TCT p.S14S BPNT1_uc010pug.1_Intron|BPNT1_uc010puh.1_Silent_p.S14S|BPNT1_uc001hmb.3_Silent_p.S14S NM_006085 NP_006076 O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 14 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0558) TAGAATATGCGGAGGCTACCA 0.418 42 83 --- --- --- --- PASS IARS2 55699 broad.mit.edu 37 1 220310241 220310241 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:220310241T>C uc001hmc.2 + 16 2141 c.2037T>C c.(2035-2037)GTT>GTC p.V679V IARS2_uc001hmd.2_Silent_p.V15V NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 679 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) ATGTTGTCGTTAATGGAGGAC 0.368 26 60 --- --- --- --- PASS MARK1 4139 broad.mit.edu 37 1 220773197 220773197 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:220773197C>T uc001hmn.3 + 5 1013 c.416C>T c.(415-417)GCG>GTG p.A139V MARK1_uc009xdw.2_Missense_Mutation_p.A139V|MARK1_uc010pun.1_Missense_Mutation_p.A139V|MARK1_uc001hmm.3_Intron NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 139 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) ATGGAATACGCGAGTGGGGGT 0.338 5 200 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223179195 223179195 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:223179195A>T uc001hnu.1 + 8 4603 c.4456A>T c.(4456-4458)ATT>TTT p.I1486F NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1486 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TTGTGGCAGAATTGTGAGAGT 0.403 50 79 --- --- --- --- PASS LBR 3930 broad.mit.edu 37 1 225599054 225599054 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:225599054G>A uc001hoy.2 - 9 1316 c.1173C>T c.(1171-1173)CCC>CCT p.P391P LBR_uc001hoz.2_Silent_p.P391P|LBR_uc001hpa.1_Silent_p.P391P NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 391 Helical; (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) CAATCAATCCGGGGCGCAATT 0.348 82 151 --- --- --- --- PASS GNPAT 8443 broad.mit.edu 37 1 231406507 231406507 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:231406507A>C uc001hup.3 + 10 1489 c.1283A>C c.(1282-1284)AAT>ACT p.N428T GNPAT_uc009xfp.2_Missense_Mutation_p.N367T NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 428 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TGTGTAGATAATAAACCTGCT 0.458 55 130 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233394065 233394065 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:233394065C>A uc001hvl.2 - 5 1778 c.1543G>T c.(1543-1545)GAC>TAC p.D515Y PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 515 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GACGATGGGTCAAGGTTAGTC 0.522 25 70 --- --- --- --- PASS GPR137B 7107 broad.mit.edu 37 1 236306297 236306297 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:236306297G>T uc001hxq.2 + 1 466 c.375G>T c.(373-375)CAG>CAT p.Q125H NM_003272 NP_003263 O60478 G137B_HUMAN G protein-coupled receptor 137B 125 Helical; (Potential). integral to plasma membrane|membrane fraction 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TGTGCCTGCAGTTTTTCACCC 0.602 51 123 --- --- --- --- PASS MTR 4548 broad.mit.edu 37 1 237016389 237016389 + Splice_Site SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:237016389G>A uc001hyi.3 + 18 2376 c.1953_splice c.e18+1 p.Q651_splice MTR_uc010pxw.1_Splice_Site_p.Q244_splice|MTR_uc010pxx.1_Splice_Site_p.Q651_splice|MTR_uc010pxy.1_Intron NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TTATGCCCAGGTAGAGAGACA 0.403 47 111 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237754047 237754047 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:237754047C>A uc001hyl.1 + 31 4035 c.3915C>A c.(3913-3915)AGC>AGA p.S1305R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1305 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCGCCTGAGCATGCCGATCG 0.507 98 185 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237951425 237951425 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:237951425A>T uc001hyl.1 + 92 13586 c.13466A>T c.(13465-13467)CAG>CTG p.Q4489L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4489 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) GCATATCAACAGAAACTTCTA 0.393 13 27 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240370980 240370980 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:240370980G>T uc010pyd.1 + 5 3093 c.2868G>T c.(2866-2868)CCG>CCT p.P956P FMN2_uc010pye.1_Silent_p.P960P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 956 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCCCTCCGCCCCCTCTTC 0.697 11 19 --- --- --- --- PASS GREM2 64388 broad.mit.edu 37 1 240656540 240656540 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:240656540C>G uc001hys.2 - 2 516 c.236G>C c.(235-237)CGG>CCG p.R79P NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 79 CTCK. BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CACCGTCTGCCGCAGCGGCTG 0.642 6 23 --- --- --- --- PASS PLD5 200150 broad.mit.edu 37 1 242383334 242383334 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:242383334C>A uc001hzn.1 - 5 818 c.691G>T c.(691-693)GTG>TTG p.V231L PLD5_uc001hzl.3_Missense_Mutation_p.V169L|PLD5_uc001hzm.3_Missense_Mutation_p.V21L|PLD5_uc001hzo.1_Missense_Mutation_p.V139L Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 231 PLD phosphodiesterase 1. integral to membrane catalytic activity p.S231R(1) ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CCGATATACACGTGCTGTTTG 0.522 24 58 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247920944 247920944 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:247920944G>T uc010pza.1 - 1 765 c.765C>A c.(763-765)GCC>GCA p.A255A NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGACGGCGATGGCTGTGCCGT 0.522 20 34 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525483 248525483 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:248525483C>A uc001ieh.1 + 1 601 c.601C>A c.(601-603)CGT>AGT p.R201S NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 201 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTCCCCTTCCGTGGATCCCG 0.493 63 186 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248551514 248551514 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr1:248551514G>A uc001iei.1 + 1 605 c.605G>A c.(604-606)TGC>TAC p.C202Y NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 202 Extracellular (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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGTATGTGTGCTGCGTTGCA 0.517 16 50 --- --- --- --- PASS KCNF1 3754 broad.mit.edu 37 2 11052594 11052594 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:11052594C>G uc002rax.2 + 1 532 c.42C>G c.(40-42)AGC>AGG p.S14R NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 14 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) AGCCGGGCAGCCAGAGCTCCG 0.537 4 4 --- --- --- --- PASS EMILIN1 11117 broad.mit.edu 37 2 27305106 27305106 + Nonsense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:27305106C>T uc002rii.3 + 4 1095 c.667C>T c.(667-669)CAG>TAG p.Q223* EMILIN1_uc010eyq.1_Nonsense_Mutation_p.Q223*|EMILIN1_uc002rik.3_5'Flank NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 223 Potential. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGGAGGCAGCAGCCAGCTGA 0.672 15 42 --- --- --- --- PASS C2orf53 339779 broad.mit.edu 37 2 27360428 27360428 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:27360428C>A uc002rjb.2 - 3 1350 c.770G>T c.(769-771)CGG>CTG p.R257L PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank NM_178553 NP_848648 Q53SZ7 CB053_HUMAN hypothetical protein LOC339779 257 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGCGGGGCCGGAGGCACAC 0.647 15 32 --- --- --- --- PASS TCF23 150921 broad.mit.edu 37 2 27375610 27375610 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:27375610G>A uc010ylg.1 + 3 520 c.520G>A c.(520-522)GAC>AAC p.D174N NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN transcription factor 23 174 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCGATCTTGACTCCACCAC 0.567 31 63 --- --- --- --- PASS SLC5A6 8884 broad.mit.edu 37 2 27429763 27429763 + Silent SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:27429763C>G uc002rjd.2 - 4 832 c.441G>C c.(439-441)GTG>GTC p.V147V SLC5A6_uc010eyv.1_Silent_p.V147V NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 147 Helical; (Potential). 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) AGATGAAGGTCACAGTTCCAC 0.473 148 356 --- --- --- --- PASS GCKR 2646 broad.mit.edu 37 2 27721620 27721620 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:27721620G>A uc002rky.2 + 5 450 c.384G>A c.(382-384)CTG>CTA p.L128L GCKR_uc010ezd.2_Silent_p.L128L|GCKR_uc010ylu.1_5'UTR NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 128 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) TGAAAGGTCTGGGACAGAAAC 0.393 47 72 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40366621 40366621 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:40366621G>A uc002rrx.2 - 9 2489 c.2465C>T c.(2464-2466)GCT>GTT p.A822V uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.A817V|SLC8A1_uc002rrz.2_Missense_Mutation_p.A809V|SLC8A1_uc002rsa.2_Missense_Mutation_p.A786V|SLC8A1_uc002rsd.3_Missense_Mutation_p.A786V NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 822 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) AAAGTGGGAAGCCAGGTCTCC 0.493 21 51 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60687767 60687767 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:60687767G>A uc002sae.1 - 4 2508 c.2280C>T c.(2278-2280)CAC>CAT p.H760H BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.H726H|BCL11A_uc002sad.1_Silent_p.H608H|BCL11A_uc002saf.1_Silent_p.H726H NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 760 C2H2-type 4. 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) GGCTTCTCCTGTGGACAGTGA 0.562 T IGH@ B-CLL 55 516 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60688956 60688956 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:60688956T>A uc002sae.1 - 4 1319 c.1091A>T c.(1090-1092)CAA>CTA p.Q364L BCL11A_uc002sab.2_Missense_Mutation_p.Q364L|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.Q330L|BCL11A_uc002sad.1_Missense_Mutation_p.Q212L|BCL11A_uc002saf.1_Missense_Mutation_p.Q330L NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 364 Pro-rich. 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) AGGGGCGGATTGCAGAGGAGG 0.642 T IGH@ B-CLL 23 326 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71576311 71576311 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:71576311A>T uc002shx.2 + 2 546 c.227A>T c.(226-228)CAC>CTC p.H76L ZNF638_uc010fec.2_Missense_Mutation_p.H182L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.H76L|ZNF638_uc002shy.2_Missense_Mutation_p.H76L|ZNF638_uc002shz.2_Missense_Mutation_p.H76L|ZNF638_uc002sia.2_Missense_Mutation_p.H76L|ZNF638_uc002sib.1_Missense_Mutation_p.H76L NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 76 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GTAACTCAACACAGAACTGAT 0.468 63 162 --- --- --- --- PASS STAMBP 10617 broad.mit.edu 37 2 74089375 74089375 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:74089375G>A uc002sjs.2 + 10 1314 c.1264G>A c.(1264-1266)GAC>AAC p.D422N STAMBP_uc002sjt.2_Missense_Mutation_p.D422N|STAMBP_uc002sju.2_Missense_Mutation_p.D422N|STAMBP_uc002sjv.2_Missense_Mutation_p.D422N NM_201647 NP_964010 O95630 STABP_HUMAN STAM binding protein 422 JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding ovary(1)|lung(1)|breast(1)|pancreas(1) 4 GACCATCACAGACCTTCGATG 0.423 30 81 --- --- --- --- PASS SLC4A5 57835 broad.mit.edu 37 2 74460582 74460582 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:74460582T>C uc002sko.1 - 18 2544 c.2542A>G c.(2542-2544)ATG>GTG p.M848V SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.M848V|SLC4A5_uc010ffc.1_Missense_Mutation_p.M848V|SLC4A5_uc002skp.1_Missense_Mutation_p.M746V|SLC4A5_uc002sks.1_Missense_Mutation_p.M810V NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 848 Helical; (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 TGCTGGTCCATGAAGATCAGG 0.567 24 52 --- --- --- --- PASS REG3G 130120 broad.mit.edu 37 2 79255402 79255402 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:79255402G>A uc002snw.2 + 6 613 c.528G>A c.(526-528)TAG>TAA p.*176* REG3G_uc002snx.2_Silent_p.*176*|REG3G_uc010ffu.2_Silent_p.*130* NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 176 acute-phase response extracellular region sugar binding 0 TCAAGGACTAGGGCAGGTGGG 0.478 28 88 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79350055 79350055 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:79350055G>T uc002snz.2 + 5 513 c.410G>T c.(409-411)TGT>TTT p.C137F REG1A_uc010ysd.1_Missense_Mutation_p.C137F NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 137 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CCTGGCTACTGTGTGAGCCTG 0.567 40 109 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80085257 80085257 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:80085257C>G uc010ysh.1 + 3 422 c.417C>G c.(415-417)ATC>ATG p.I139M CTNNA2_uc010yse.1_Missense_Mutation_p.I139M|CTNNA2_uc010ysf.1_Missense_Mutation_p.I139M|CTNNA2_uc010ysg.1_Missense_Mutation_p.I139M NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 139 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 GCTTACTCATCCTGGCGGACA 0.502 63 77 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109378557 109378557 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:109378557T>G uc002tem.3 + 19 2729 c.2603T>G c.(2602-2604)GTT>GGT p.V868G NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 868 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GTTTTTTTAGTTGCAACTACT 0.338 69 127 --- --- --- --- PASS MERTK 10461 broad.mit.edu 37 2 112754908 112754908 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:112754908G>T uc002thk.1 + 10 1581 c.1459G>T c.(1459-1461)GAT>TAT p.D487Y MERTK_uc002thl.1_Missense_Mutation_p.D311Y NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 487 Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 AGGTTGGGTAGATTATGCCCC 0.428 107 306 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116538458 116538458 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:116538458C>A uc002tla.1 + 16 1827 c.1370C>A c.(1369-1371)ACT>AAT p.T457N DPP10_uc002tlb.1_Missense_Mutation_p.T407N|DPP10_uc002tlc.1_Missense_Mutation_p.T453N|DPP10_uc002tle.2_Missense_Mutation_p.T461N|DPP10_uc002tlf.1_Missense_Mutation_p.T450N NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 457 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AGTGCTTCTACTGAAGGATTA 0.308 49 150 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125405389 125405389 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:125405389G>A uc002tno.2 + 13 2292 c.1928G>A c.(1927-1929)CGG>CAG p.R643Q CNTNAP5_uc010flu.2_Missense_Mutation_p.R644Q NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 643 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ACCCGAGTGCGGGGCGCTAAC 0.562 3 42 --- --- --- --- PASS WDR33 55339 broad.mit.edu 37 2 128477651 128477651 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:128477651G>T uc002tpg.1 - 16 2131 c.1948C>A c.(1948-1950)CAA>AAA p.Q650K NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 650 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) ATGAATCCTTGTGGCCCCCCA 0.652 21 77 --- --- --- --- PASS FAM128A 653784 broad.mit.edu 37 2 132241747 132241747 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:132241747C>A uc002tsw.3 - 3 479 c.364G>T c.(364-366)GCG>TCG p.A122S FAM128A_uc002tsv.3_RNA NM_001085365 NP_001078834 Q6P582 MZT2A_HUMAN hypothetical protein LOC653784 122 centrosome|gamma-tubulin ring complex|spindle 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CTGCGTTCCGCCAGGGCCAAT 0.632 76 87 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133489393 133489393 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:133489393A>G uc002ttp.2 - 17 5734 c.5360T>C c.(5359-5361)ATT>ACT p.I1787T NCKAP5_uc002ttq.2_Missense_Mutation_p.I468T NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1787 protein binding 0 GGAATGAACAATGGCGCTATC 0.562 27 111 --- --- --- --- PASS TMEM163 81615 broad.mit.edu 37 2 135470778 135470778 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:135470778G>A uc002ttx.2 - 2 380 c.314C>T c.(313-315)GCT>GTT p.A105V TMEM163_uc002tty.2_RNA NM_030923 NP_112185 Q8TC26 TM163_HUMAN transmembrane protein 163 105 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(221;0.154) ACTAAAGGCAGCCACCGCGAG 0.522 60 111 --- --- --- --- PASS R3HDM1 23518 broad.mit.edu 37 2 136399333 136399333 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:136399333G>T uc002tuo.2 + 15 1817 c.1447G>T c.(1447-1449)GGC>TGC p.G483C R3HDM1_uc010fni.2_Missense_Mutation_p.G481C|R3HDM1_uc002tup.2_Missense_Mutation_p.G427C|R3HDM1_uc010zbh.1_Intron NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 483 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) CATACCACCTGGCAGTATTCT 0.408 38 91 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141771157 141771157 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:141771157C>A uc002tvj.1 - 14 3320 c.2348G>T c.(2347-2349)GGG>GTG p.G783V LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 783 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) AATCTGAAGCCCAAATAGGGG 0.333 TSP Lung(27;0.18) 45 133 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145156420 145156420 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:145156420G>A uc002tvu.2 - 8 2814 c.2334C>T c.(2332-2334)TCC>TCT p.S778S ZEB2_uc002tvv.2_Silent_p.S772S|ZEB2_uc010zbm.1_Silent_p.S749S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.S807S NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 778 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TATTACTCCTGGAGTGGTCCA 0.418 107 244 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162661104 162661104 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:162661104T>C uc002ubx.3 + 3 460 c.276T>C c.(274-276)TTT>TTC p.F92F SLC4A10_uc010fpa.1_Silent_p.F104F|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.F92F|SLC4A10_uc010zcs.1_Silent_p.F103F NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 92 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 CACCTTCTTTTGGTAAGAATC 0.343 12 42 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162851843 162851843 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:162851843C>A uc002ubz.2 - 24 2653 c.2092G>T c.(2092-2094)GTT>TTT p.V698F DPP4_uc010fpb.2_Missense_Mutation_p.V374F NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 698 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) AGGTACTCAACTTGTTTAAAA 0.343 77 110 --- --- --- --- PASS HOXD4 3233 broad.mit.edu 37 2 177016524 177016524 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:177016524C>A uc002uks.2 + 1 412 c.163C>A c.(163-165)CCC>ACC p.P55T NM_014621 NP_055436 P09016 HXD4_HUMAN homeobox D4 55 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) CTACCCACGGCCCGACTTCGG 0.741 11 26 --- --- --- --- PASS TTC30A 92104 broad.mit.edu 37 2 178481726 178481726 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:178481726G>A uc002ulo.2 - 1 1969 c.1704C>T c.(1702-1704)ATC>ATT p.I568I NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 568 TPR 8. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CCAAGCTTTTGATAACTCGAG 0.373 9 501 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179497445 179497445 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:179497445C>A uc010zfg.1 - 184 35808 c.35584G>T c.(35584-35586)GAA>TAA p.E11862* TTN_uc010zfh.1_Nonsense_Mutation_p.E5557*|TTN_uc010zfi.1_Nonsense_Mutation_p.E5490*|TTN_uc010zfj.1_Nonsense_Mutation_p.E5365* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12789 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGATACTTCACACTCAAAC 0.428 5 359 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179550314 179550314 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:179550314G>A uc010zfg.1 - 125 28815 c.28591C>T c.(28591-28593)CCT>TCT p.P9531S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6192S|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10458 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATTCCTCAGGCTCTTCCATC 0.333 4 47 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179587057 179587057 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:179587057G>C uc010zfg.1 - 74 18949 c.18725C>G c.(18724-18726)TCT>TGT p.S6242C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2903C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7169 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACTGGCCAGAGTGACTCAA 0.398 15 61 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179590306 179590306 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:179590306T>C uc010zfg.1 - 68 17117 c.16893A>G c.(16891-16893)GCA>GCG p.A5631A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A2292A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6558 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCTATGGATGCTTGTAATT 0.423 26 88 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179610664 179610664 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:179610664C>T uc002unb.2 - 46 16687 c.16463G>A c.(16462-16464)AGC>AAC p.S5488N TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTAAACTGCTTAAAGTCAC 0.408 63 210 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179734015 179734015 + Silent SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:179734015A>T uc002unf.1 - 5 555 c.498T>A c.(496-498)GTT>GTA p.V166V NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 166 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TAATGTACTGAACCTCATCAT 0.323 25 93 --- --- --- --- PASS NEUROD1 4760 broad.mit.edu 37 2 182543262 182543262 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:182543262C>A uc002uof.2 - 2 562 c.326G>T c.(325-327)CGG>CTG p.R109L CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 109 Basic motif. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) GTTCCGCTCCCGGGCGTTAGC 0.537 39 51 --- --- --- --- PASS FRZB 2487 broad.mit.edu 37 2 183731163 183731163 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:183731163T>A uc002upa.1 - 1 336 c.118A>T c.(118-120)ATC>TTC p.I40F NM_001463 NP_001454 Q92765 SFRP3_HUMAN frizzled-related protein precursor 40 FZ. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) CACAGGGGGATGCGGACGGGC 0.677 28 15 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189953453 189953453 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:189953453C>T uc002uqk.2 - 8 888 c.613G>A c.(613-615)GGG>AGG p.G205R COL5A2_uc010frx.2_5'Flank NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 205 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACTTGACTCCCAAGTCCAGAT 0.358 40 67 --- --- --- --- PASS STAT1 6772 broad.mit.edu 37 2 191848427 191848427 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:191848427G>C uc002usj.2 - 17 1775 c.1387C>G c.(1387-1389)CAG>GAG p.Q463E STAT1_uc010fse.1_Missense_Mutation_p.Q463E|STAT1_uc002usk.2_Missense_Mutation_p.Q463E|STAT1_uc002usl.2_Missense_Mutation_p.Q465E|STAT1_uc010fsf.1_Missense_Mutation_p.Q275E NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 463 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) CTCGGGAGCTGGCTGACGTTG 0.502 5 85 --- --- --- --- PASS IHH 3549 broad.mit.edu 37 2 219920115 219920115 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:219920115G>A uc002vjo.1 - 3 1050 c.1050C>T c.(1048-1050)GCC>GCT p.A350A NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 350 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCAGCCACGGCCGCGAAGC 0.642 13 13 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228881146 228881146 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:228881146G>A uc002vpq.2 - 7 4471 c.4424C>T c.(4423-4425)GCC>GTC p.A1475V SPHKAP_uc002vpp.2_Missense_Mutation_p.A1475V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A1475V NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1475 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGCGCTCACGGCTGTGTCTCC 0.468 75 101 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228881548 228881548 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:228881548G>C uc002vpq.2 - 7 4069 c.4022C>G c.(4021-4023)CCC>CGC p.P1341R SPHKAP_uc002vpp.2_Missense_Mutation_p.P1341R|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1341R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1341 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGCTTGCGAGGGAGAGCCACC 0.522 23 28 --- --- --- --- PASS LRRFIP1 9208 broad.mit.edu 37 2 238672186 238672186 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:238672186G>A uc002vxe.2 + 11 2122 c.1830G>A c.(1828-1830)CAG>CAA p.Q610Q LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Silent_p.Q586Q|LRRFIP1_uc002vxf.2_Silent_p.Q554Q NM_001137552 NP_001131024 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting 610 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding breast(3) 3 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) AAGAAGAGCAGGTAAAGTCTA 0.363 21 9 --- --- --- --- PASS TRAF3IP1 26146 broad.mit.edu 37 2 239261531 239261531 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:239261531G>A uc002vye.2 + 13 1634 c.1515G>A c.(1513-1515)GAG>GAA p.E505E TRAF3IP1_uc002vyf.2_Silent_p.E439E NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 505 DISC1-interaction domain. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) ACAATGAAGAGGATGATCAAT 0.328 26 62 --- --- --- --- PASS MYEOV2 150678 broad.mit.edu 37 2 241066112 241066112 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr2:241066112C>A uc002vyu.1 - 5 627 c.627G>T c.(625-627)GAG>GAT p.E209D NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) CTTCGCTGACCTCTCGCCTGC 0.468 98 58 --- --- --- --- PASS SETD5 55209 broad.mit.edu 37 3 9482323 9482323 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:9482323G>A uc003brt.2 + 8 1186 c.751G>A c.(751-753)GAC>AAC p.D251N SETD5_uc003brs.1_Missense_Mutation_p.D232N|SETD5_uc003bru.2_Missense_Mutation_p.D153N|SETD5_uc003brv.2_Missense_Mutation_p.D140N|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 251 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TACTATTTTAGACACTATTAA 0.398 24 22 --- --- --- --- PASS GRIP2 80852 broad.mit.edu 37 3 14581778 14581778 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:14581778G>T uc011avi.1 - 2 329 c.329C>A c.(328-330)GCG>GAG p.A110E GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byv.1_Missense_Mutation_p.A13E NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 13 synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 TTACGTACCCGCCTCTCCAGG 0.637 10 9 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38889189 38889189 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:38889189G>A uc011ays.1 - 26 4571 c.4372C>T c.(4372-4374)CCT>TCT p.P1458S NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1458 IV. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGCGTCGGAGGGAAAGGAATG 0.493 21 25 --- --- --- --- PASS ZNF35 7584 broad.mit.edu 37 3 44700479 44700479 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:44700479C>T uc003cnq.2 + 4 845 c.624C>T c.(622-624)GGC>GGT p.G208G ZNF35_uc003cnr.2_Silent_p.G48G NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 208 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) TTAATTCTGGCGCTGTTAAAA 0.413 4 117 --- --- --- --- PASS LTF 4057 broad.mit.edu 37 3 46480790 46480790 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:46480790T>C uc003cpq.2 - 15 1943 c.1905A>G c.(1903-1905)CAA>CAG p.Q635Q LTF_uc003fzr.2_Silent_p.Q591Q|LTF_uc010hjh.2_Silent_p.Q633Q|LTF_uc003cpr.2_Silent_p.Q622Q NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 635 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TCCATACCTGTTGGTGGAGCA 0.547 39 57 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52417486 52417486 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:52417486G>T uc011bef.1 + 51 8287 c.8026G>T c.(8026-8028)GAC>TAC p.D2676Y DNAH1_uc003ddv.2_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2676 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGACGAGCAGGACCAGATCGT 0.552 10 9 --- --- --- --- PASS FLNB 2317 broad.mit.edu 37 3 58156459 58156459 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:58156459T>C uc003djj.2 + 46 7944 c.7779T>C c.(7777-7779)CCT>CCC p.P2593P FLNB_uc010hne.2_Silent_p.P2624P|FLNB_uc003djk.2_Silent_p.P2582P|FLNB_uc010hnf.2_Silent_p.P2569P|FLNB_uc003djl.2_Silent_p.P2413P|FLNB_uc003djm.2_Silent_p.P2400P|uc003djn.2_5'Flank NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2593 Interaction with INPPL1.|Filamin 24.|Self-association site, tail (By similarity).|Interaction with FLNA 2. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AACACATCCCTGGCAGCCCTT 0.458 22 32 --- --- --- --- PASS ATG3 64422 broad.mit.edu 37 3 112267449 112267449 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:112267449C>T uc003dzd.2 - 5 384 c.274G>A c.(274-276)GAT>AAT p.D92N ATG3_uc003dzc.2_Missense_Mutation_p.D92N|ATG3_uc010hqe.2_Missense_Mutation_p.D92N NM_022488 NP_071933 Q9NT62 ATG3_HUMAN Apg3p 92 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding ovary(3) 3 TCCAATTCATCTGAATATTCC 0.358 80 137 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118753386 118753386 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:118753386G>A uc003ebw.2 - 1 291 c.44C>T c.(43-45)TCT>TTT p.S15F IGSF11_uc011biv.1_Missense_Mutation_p.S15F|IGSF11_uc003ebx.2_Missense_Mutation_p.S15F|IGSF11_uc003eby.2_Intron|IGSF11_uc003ebz.2_Intron|IGSF11_uc010hqs.2_Intron NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 15 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 ACCGTGCAGAGAGAGGAGCAG 0.692 5 10 --- --- --- --- PASS C3orf30 152405 broad.mit.edu 37 3 118870083 118870083 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:118870083A>T uc003ecb.1 + 3 1595 c.1555A>T c.(1555-1557)AAC>TAC p.N519Y C3orf30_uc011biw.1_Missense_Mutation_p.N518Y NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 519 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) GATTACTGAAAACTTAGTCTA 0.348 93 571 --- --- --- --- PASS GPR156 165829 broad.mit.edu 37 3 119900054 119900054 + Nonsense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:119900054C>T uc011bjf.1 - 7 851 c.851G>A c.(850-852)TGG>TAG p.W284* GPR156_uc011bjg.1_Nonsense_Mutation_p.W280* NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 284 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) CAGGTTGGGCCAGGAATGCAA 0.493 48 104 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121200428 121200428 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:121200428T>C uc003eee.3 - 19 6331 c.6202A>G c.(6202-6204)AAC>GAC p.N2068D POLQ_uc003eed.2_Missense_Mutation_p.N1240D NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2068 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CCTTGAAGGTTTTCCTTCTGC 0.368 DNA_polymerases_(catalytic_subunits) 53 116 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 121980393 121980393 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:121980393A>G uc003eev.3 + 4 883 c.511A>G c.(511-513)AGC>GGC p.S171G CASR_uc003eew.3_Missense_Mutation_p.S171G NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 171 Extracellular (Potential). S -> N (could be associated with FHH). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGCCTCCTCCAGCAGACTCCT 0.453 24 292 --- --- --- --- PASS DIRC2 84925 broad.mit.edu 37 3 122545685 122545685 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:122545685G>T uc003efw.3 + 3 615 c.476G>T c.(475-477)GGT>GTT p.G159V DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_5'UTR NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 159 Helical; (Potential). transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) GGATTGGCAGGTCCAACTGTA 0.393 18 141 --- --- --- --- PASS SLC12A8 84561 broad.mit.edu 37 3 124802767 124802767 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:124802767G>A uc003ehv.3 - 14 2223 c.2112C>T c.(2110-2112)CTC>CTT p.L704L SLC12A8_uc003ehw.3_Silent_p.L733L|SLC12A8_uc003eht.3_Silent_p.L505L|SLC12A8_uc003ehu.3_Silent_p.L457L|SLC12A8_uc010hry.2_3'UTR NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 704 potassium ion transport integral to membrane symporter activity 0 CCCGGTTCACGAGGGAGGAGT 0.577 10 46 --- --- --- --- PASS ZNF148 7707 broad.mit.edu 37 3 124952367 124952367 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:124952367C>A uc003ehx.3 - 9 1689 c.1203G>T c.(1201-1203)CTG>CTT p.L401L SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Silent_p.L401L|ZNF148_uc010hsa.2_Silent_p.L401L|ZNF148_uc003eia.3_Silent_p.L401L|ZNF148_uc003ehy.2_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 401 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 GTGGCTGTTTCAGACTTCTCT 0.388 25 57 --- --- --- --- PASS ALDH1L1 10840 broad.mit.edu 37 3 125822661 125822661 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:125822661C>A uc003eim.1 - 23 2872 c.2682G>T c.(2680-2682)CGG>CGT p.R894R ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.R793R|SLC41A3_uc011bkh.1_5'Flank NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 894 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CTGTCTTGACCCGCAGGTACT 0.577 10 34 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130159169 130159169 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:130159169C>T uc010htj.1 + 35 6481 c.5987C>T c.(5986-5988)GCT>GTT p.A1996V COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.A35V NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 1996 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen 0 TTCAACATTGCTTCAGACCCT 0.418 24 64 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130290100 130290100 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:130290100G>T uc010htl.2 + 6 2871 c.2840G>T c.(2839-2841)GGG>GTG p.G947V NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 947 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CTGGCTGTGGGGATTGATGGT 0.507 45 66 --- --- --- --- PASS CPNE4 131034 broad.mit.edu 37 3 131300447 131300447 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:131300447G>T uc003eok.2 - 9 1278 c.843C>A c.(841-843)GGC>GGA p.G281G CPNE4_uc011blq.1_Silent_p.G299G|CPNE4_uc003eol.2_Silent_p.G299G|CPNE4_uc003eom.2_Silent_p.G281G NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 281 upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GAATCACAGTGCCTGAGTTCT 0.463 47 111 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142185204 142185204 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:142185204G>T uc003eux.3 - 40 6981 c.6859C>A c.(6859-6861)CCT>ACT p.P2287T ATR_uc003euy.1_Missense_Mutation_p.P173T NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2287 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CAATGTCCAGGAAATGGTTCA 0.348 Other_conserved_DNA_damage_response_genes 55 161 --- --- --- --- PASS PAQR9 344838 broad.mit.edu 37 3 142681874 142681874 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:142681874C>T uc003evg.2 - 1 305 c.305G>A c.(304-306)TGC>TAC p.C102Y PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 102 Helical; (Potential). integral to membrane receptor activity 0 GAACAGACGGCAGAACTTGCT 0.627 21 38 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 143412060 143412060 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:143412060C>G uc003evn.2 - 5 805 c.623G>C c.(622-624)GGT>GCT p.G208A SLC9A9_uc011bnk.1_Missense_Mutation_p.G82A NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 208 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CATCAGTGAACCAAAAAATAA 0.338 12 122 --- --- --- --- PASS PLSCR2 57047 broad.mit.edu 37 3 146173210 146173210 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:146173210A>G uc003evv.1 - 5 470 c.137T>C c.(136-138)ATC>ACC p.I46T PLSCR2_uc003evw.1_Missense_Mutation_p.I115T NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 46 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 GCTGTTCTTGATTTCATACAT 0.328 30 278 --- --- --- --- PASS CPA3 1359 broad.mit.edu 37 3 148583320 148583320 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:148583320G>T uc003ewm.2 + 2 181 c.129G>T c.(127-129)TTG>TTT p.L43F NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 43 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TAAAGGACTTGGCCAAAACCA 0.393 60 51 --- --- --- --- PASS WWTR1 25937 broad.mit.edu 37 3 149260288 149260288 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:149260288C>A uc003exe.2 - 3 621 c.605G>T c.(604-606)AGT>ATT p.S202I WWTR1_uc003exf.2_Missense_Mutation_p.S202I|WWTR1_uc011bns.1_Missense_Mutation_p.S202I|WWTR1_uc003exh.2_Missense_Mutation_p.S202I NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 202 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCTCAGGGTACTGGGGGCCAT 0.537 23 192 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 150883274 150883274 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:150883274G>T uc003eyp.2 + 9 1363 c.1325G>T c.(1324-1326)TGG>TTG p.W442L MED12L_uc011bnz.1_Missense_Mutation_p.W302L|MED12L_uc003eyn.2_Missense_Mutation_p.W442L|MED12L_uc003eyo.2_Missense_Mutation_p.W442L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 442 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAAGTTCGGTGGTCATTTGAC 0.418 40 48 --- --- --- --- PASS IGSF10 285313 broad.mit.edu 37 3 151166180 151166180 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:151166180A>G uc011bod.1 - 4 1589 c.1589T>C c.(1588-1590)ATA>ACA p.I530T NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 530 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTTTTGTCTATTAGGATCCG 0.468 190 238 --- --- --- --- PASS AADAC 13 broad.mit.edu 37 3 151538218 151538218 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:151538218G>A uc003eze.2 + 3 499 c.409G>A c.(409-411)GAT>AAT p.D137N NM_001086 NP_001077 P22760 AAAD_HUMAN arylacetamide deacetylase 137 Lumenal (Potential). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity skin(2) 2 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AGACAGACTTGATGCTGTCGT 0.373 48 125 --- --- --- --- PASS GFM1 85476 broad.mit.edu 37 3 158366843 158366843 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:158366843C>A uc003fce.2 + 5 693 c.586C>A c.(586-588)CAT>AAT p.H196N GFM1_uc003fcd.2_Missense_Mutation_p.H196N|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.H108N NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 196 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TAAACTAAATCATAATGCAGC 0.323 11 603 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906771 164906771 + Missense_Mutation SNP G T T rs35378268 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:164906771G>T uc003fej.3 - 2 2292 c.1848C>A c.(1846-1848)CAC>CAA p.H616Q SLITRK3_uc003fek.2_Missense_Mutation_p.H616Q NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 616 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CTGGTGCAACGTGCAGCATCT 0.557 HNSCC(40;0.11) 44 37 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167031866 167031866 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:167031866T>A uc003fep.2 - 16 1636 c.1313A>T c.(1312-1314)TAT>TTT p.Y438F ZBBX_uc011bpc.1_Missense_Mutation_p.Y438F|ZBBX_uc003feq.2_Missense_Mutation_p.Y409F NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 438 intracellular zinc ion binding ovary(2) 2 GCCATTTTCATATGGAAAGCT 0.289 194 162 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167245807 167245807 + Splice_Site SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:167245807T>C uc003fev.1 - 11 1657 c.1351_splice c.e11-1 p.E451_splice WDR49_uc003feu.1_Splice_Site_p.E276_splice|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 large_intestine(1)|ovary(1)|skin(1) 3 ACAGTACTCCTGAATGAAAAG 0.348 61 165 --- --- --- --- PASS PRKCI 5584 broad.mit.edu 37 3 169998110 169998110 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:169998110A>T uc003fgs.2 + 9 1039 c.801A>T c.(799-801)AAA>AAT p.K267N NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 267 ATP (By similarity).|Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GTTATGCCAAAGTACTGTTGG 0.378 156 112 --- --- --- --- PASS ECT2 1894 broad.mit.edu 37 3 172482145 172482145 + Silent SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:172482145T>G uc003fii.2 + 11 1191 c.1053T>G c.(1051-1053)CGT>CGG p.R351R ECT2_uc010hwv.1_Silent_p.R382R|ECT2_uc003fih.2_Silent_p.R350R|ECT2_uc003fij.1_Silent_p.R351R|ECT2_uc003fik.1_Silent_p.R351R|ECT2_uc003fil.1_Silent_p.R382R NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 351 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AACGACGTCGTTTAAAAGAAA 0.458 17 240 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 83 156 --- --- --- --- PASS SOX2 6657 broad.mit.edu 37 3 181430281 181430281 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:181430281A>T uc003fkx.2 + 1 560 c.133A>T c.(133-135)ATG>TTG p.M45L SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron NM_003106 NP_003097 P48431 SOX2_HUMAN sex-determining region Y-box 2 45 HMG box. cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) CAAGCGGCCCATGAATGCCTT 0.701 A NSCLC|oesophageal squamous carcinoma MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 26 58 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 182947453 182947453 + Splice_Site SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:182947453C>A uc003fli.1 - 17 2135 c.2045_splice c.e17+1 p.R682_splice MCF2L2_uc003flj.1_Splice_Site_p.R682_splice NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTATTATATACCTGTTGTGAA 0.333 190 171 --- --- --- --- PASS MAP3K13 9175 broad.mit.edu 37 3 185184731 185184731 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:185184731A>G uc010hyf.2 + 11 1889 c.1623A>G c.(1621-1623)AAA>AAG p.K541K MAP3K13_uc011brt.1_Silent_p.K334K|MAP3K13_uc011bru.1_Silent_p.K397K|MAP3K13_uc003fpi.2_Silent_p.K541K|MAP3K13_uc010hyg.2_Silent_p.K231K NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 541 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGCCTCACAAATCTGGGATGC 0.463 16 174 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193174803 193174803 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:193174803C>A uc003ftd.2 - 16 2009 c.1901G>T c.(1900-1902)TGC>TTC p.C634F ATP13A4_uc003fte.1_Missense_Mutation_p.C634F|ATP13A4_uc011bsr.1_Missense_Mutation_p.C105F|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 634 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CTCAGGTTGGCAAAAGCTGGC 0.363 41 22 --- --- --- --- PASS ZNF721 170960 broad.mit.edu 37 4 435662 435662 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:435662T>C uc003gag.2 - 3 3285 c.2594A>G c.(2593-2595)TAC>TGC p.Y865C ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.Y897C|ZNF721_uc010ibe.2_Missense_Mutation_p.Y853C NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 865 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TCCACATGTGTAGGGTTTCTC 0.418 30 61 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5570322 5570322 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:5570322C>G uc003gij.2 - 20 3460 c.3406G>C c.(3406-3408)GGG>CGG p.G1136R EVC2_uc011bwb.1_Missense_Mutation_p.G576R|EVC2_uc003gik.2_Missense_Mutation_p.G1056R NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1136 integral to membrane large_intestine(3)|ovary(2) 5 AGCGTGGCCCCGGGCACCATG 0.622 6 24 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20525428 20525428 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:20525428T>C uc003gpr.1 + 13 1380 c.1176T>C c.(1174-1176)TTT>TTC p.F392F SLIT2_uc003gps.1_Silent_p.F392F NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 392 LRR 10. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TAGATGCTTTTCAGGATCTCC 0.408 60 138 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30724425 30724425 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:30724425A>C uc003gsk.1 + 1 2389 c.1381A>C c.(1381-1383)ACC>CCC p.T461P PCDH7_uc011bxw.1_Missense_Mutation_p.T414P|PCDH7_uc011bxx.1_Missense_Mutation_p.T461P NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 461 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GGTCACCTGCACCGTGGTGGG 0.642 12 29 --- --- --- --- PASS UGDH 7358 broad.mit.edu 37 4 39523086 39523086 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:39523086C>A uc003guk.1 - 2 363 c.47G>T c.(46-48)GGA>GTA p.G16V UGDH_uc011byp.1_Intron|UGDH_uc003gul.1_Missense_Mutation_p.G16V NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 16 NAD. glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) TGTGGGTCCTCCAACATAGCC 0.383 4 157 --- --- --- --- PASS BEND4 389206 broad.mit.edu 37 4 42119660 42119660 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:42119660C>G uc003gwn.2 - 6 2060 c.1480G>C c.(1480-1482)GCC>CCC p.A494P BEND4_uc003gwm.2_3'UTR NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 494 BEN. 0 CCCTGTCGGGCGTGACCGACA 0.527 5 11 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42446601 42446601 + Nonsense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:42446601C>T uc003gwr.2 - 32 3241 c.3009G>A c.(3007-3009)TGG>TGA p.W1003* ATP8A1_uc003gwq.2_Nonsense_Mutation_p.W229*|ATP8A1_uc003gws.2_Nonsense_Mutation_p.W988* NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 1003 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TTACCCATGTCCAATATGATG 0.363 15 50 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42895516 42895516 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:42895516A>G uc003gwt.2 + 1 233 c.233A>G c.(232-234)GAT>GGT p.D78G NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 78 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 AATGACCAGGATAGCTTGCTG 0.463 38 83 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55979624 55979624 + Nonsense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:55979624G>A uc003has.2 - 7 1125 c.823C>T c.(823-825)CGA>TGA p.R275* KDR_uc003hat.1_Nonsense_Mutation_p.R275*|KDR_uc011bzx.1_Nonsense_Mutation_p.R275* NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 275 Ig-like C2-type 3.|Extracellular (Potential). R -> L (in a colorectal cancer sample; somatic mutation). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.R275L(1) lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTTAGGTCTCGGTTTACAAGT 0.398 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 26 77 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62800567 62800567 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:62800567G>C uc010ihh.2 + 11 2091 c.1918G>C c.(1918-1920)GAG>CAG p.E640Q LPHN3_uc003hcq.3_Missense_Mutation_p.E640Q|LPHN3_uc003hct.2_Missense_Mutation_p.E33Q|LPHN3_uc003hcs.1_Missense_Mutation_p.E456Q NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 627 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GGCAATGGTCGAGACAGTTAA 0.488 10 31 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66217280 66217280 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:66217280C>A uc003hcy.2 - 14 2528 c.2335G>T c.(2335-2337)GGC>TGC p.G779C EPHA5_uc003hcx.2_Missense_Mutation_p.G711C|EPHA5_uc003hcz.2_Missense_Mutation_p.G757C|EPHA5_uc011cah.1_Missense_Mutation_p.G780C|EPHA5_uc011cai.1_Missense_Mutation_p.G758C|EPHA5_uc003hda.2_Missense_Mutation_p.G780C NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 779 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CTCAGCATGCCAACAAGCTGA 0.418 TSP Lung(17;0.13) 22 57 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 4 69334596 69334596 + Splice_Site SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:69334596G>A uc003hdz.3 + 4 323 c.259_splice c.e4-1 p.V87_splice NM_014058 NP_054777 transmembrane protease, serine 11E TTTACAAACAGGTGAAAAATG 0.279 9 365 --- --- --- --- PASS HTN3 3347 broad.mit.edu 37 4 70897695 70897695 + Splice_Site SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:70897695G>C uc003hew.2 + 3 169 c.52_splice c.e3-1 p.G18_splice NM_000200 NP_000191 P15516 HIS3_HUMAN histatin 3 biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region metal ion binding|protein binding ovary(1)|skin(1) 2 TCTTTTCCAAGGGAGCTGATT 0.234 5 153 --- --- --- --- PASS AMTN 401138 broad.mit.edu 37 4 71389637 71389637 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:71389637C>A uc003hfk.1 + 4 280 c.191C>A c.(190-192)CCA>CAA p.P64Q AMTN_uc010ihy.1_Missense_Mutation_p.P63Q NM_212557 NP_997722 Q6UX39 AMTN_HUMAN amelotin precursor 64 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction large_intestine(1)|central_nervous_system(1) 2 Lung(101;0.235) ACACTGGGGCCAGATCTGCAT 0.398 72 203 --- --- --- --- PASS NPFFR2 10886 broad.mit.edu 37 4 73012893 73012893 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:73012893C>A uc003hgg.2 + 4 1031 c.933C>A c.(931-933)GAC>GAA p.D311E NPFFR2_uc010iig.1_Missense_Mutation_p.D93E|NPFFR2_uc003hgi.2_Missense_Mutation_p.D212E|NPFFR2_uc003hgh.2_Missense_Mutation_p.D209E|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 311 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GCCGGGAAGACTGGCCAAATC 0.463 66 66 --- --- --- --- PASS CDKL2 8999 broad.mit.edu 37 4 76523342 76523342 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:76523342T>C uc003hiq.2 - 8 1464 c.939A>G c.(937-939)TTA>TTG p.L313L CDKL2_uc011cbp.1_Silent_p.L313L|CDKL2_uc010iix.1_RNA NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 313 sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ATTTTTTAGATAAAGAAACAT 0.289 81 106 --- --- --- --- PASS ART3 419 broad.mit.edu 37 4 77003484 77003484 + Missense_Mutation SNP G A A rs142545952 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:77003484G>A uc003hjo.2 + 3 696 c.577G>A c.(577-579)GCT>ACT p.A193T ART3_uc003hji.2_Missense_Mutation_p.A193T|ART3_uc003hjj.2_Missense_Mutation_p.A193T|ART3_uc003hjk.2_Missense_Mutation_p.A193T|ART3_uc010ija.1_Missense_Mutation_p.A193T|ART3_uc003hjn.2_Missense_Mutation_p.A193T|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.A163T|ART3_uc010ijc.2_Missense_Mutation_p.A163T|ART3_uc010ijd.2_Missense_Mutation_p.A163T NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a 193 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CAAACCTCAGGCTGCTAATGA 0.403 22 65 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79166399 79166399 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:79166399C>G uc003hlb.2 + 4 669 c.229C>G c.(229-231)CAA>GAA p.Q77E FRAS1_uc003hkw.2_Missense_Mutation_p.Q77E|FRAS1_uc003hky.1_5'UTR NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 77 VWFC 1.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 AGAAGTGCTTCAAATAGCTGC 0.428 5 13 --- --- --- --- PASS FGF5 2250 broad.mit.edu 37 4 81188121 81188121 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:81188121A>C uc003hmd.2 + 1 380 c.143A>C c.(142-144)CAG>CCG p.Q48P FGF5_uc003hme.2_Missense_Mutation_p.Q48P NM_004464 NP_004455 P12034 FGF5_HUMAN fibroblast growth factor 5 isoform 1 precursor 48 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity ovary(1)|breast(1) 2 AGCAGCAGACAGAGCAGCAGT 0.627 21 41 --- --- --- --- PASS HPSE 10855 broad.mit.edu 37 4 84216553 84216553 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:84216553C>T uc003hoj.3 - 12 1675 c.1576G>A c.(1576-1578)GCT>ACT p.A526T uc003hoi.2_5'Flank|HPSE_uc010ika.2_Missense_Mutation_p.A468T|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.A269T|HPSE_uc011cct.1_Missense_Mutation_p.A452T|HPSE_uc003hok.3_Missense_Mutation_p.A526T NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 526 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) TATGAGAAAGCTGGCAAGCCC 0.388 54 65 --- --- --- --- PASS CXXC4 80319 broad.mit.edu 37 4 105393508 105393508 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:105393508T>A uc003hxg.2 - 2 583 c.568A>T c.(568-570)AGC>TGC p.S190C uc003hxf.1_5'Flank|CXXC4_uc010ilo.2_RNA NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN CXXC finger 4 190 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) GCTTCAGCGCTGGGAACAGGT 0.333 61 86 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113540355 113540355 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:113540355T>C uc003iau.2 - 6 1054 c.843A>G c.(841-843)AAA>AAG p.K281K C4orf21_uc003iaw.2_Silent_p.K281K NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CTTGTGGTTGTTTTTGAGGAA 0.373 87 110 --- --- --- --- PASS BBS7 55212 broad.mit.edu 37 4 122749310 122749310 + Silent SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:122749310T>G uc003ied.2 - 18 2179 c.2005A>C c.(2005-2007)AGA>CGA p.R669R BBS7_uc003iee.1_Silent_p.R669R NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 669 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 CCATAGAGTCTTTCAAGATGT 0.393 Bardet-Biedl_syndrome 77 121 --- --- --- --- PASS SMAD1 4086 broad.mit.edu 37 4 146461124 146461124 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:146461124G>C uc003ikc.2 + 3 985 c.569G>C c.(568-570)AGC>ACC p.S190T SMAD1_uc003ikd.2_Missense_Mutation_p.S190T|SMAD1_uc010iov.2_Missense_Mutation_p.S190T|SMAD1_uc011cic.1_Missense_Mutation_p.S190T|SMAD1_uc003ikf.2_RNA NM_005900 NP_005891 Q15797 SMAD1_HUMAN Sma- and Mad-related protein 1 190 BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity ovary(1) 1 all_hematologic(180;0.151) TCTCCCAATAGCAGTTACCCA 0.537 17 31 --- --- --- --- PASS RXFP1 59350 broad.mit.edu 37 4 159547986 159547986 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:159547986A>G uc003ipz.2 + 10 852 c.770A>G c.(769-771)AAC>AGC p.N257S RXFP1_uc010iqj.1_Missense_Mutation_p.N86S|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.N257S|RXFP1_uc011cjb.1_Missense_Mutation_p.N203S|RXFP1_uc010iqk.2_Missense_Mutation_p.N125S|RXFP1_uc011cjc.1_Missense_Mutation_p.N176S|RXFP1_uc011cjd.1_Missense_Mutation_p.N176S|RXFP1_uc010iql.2_Intron|RXFP1_uc011cje.1_Missense_Mutation_p.N284S|RXFP1_uc010iqm.2_Missense_Mutation_p.N224S|RXFP1_uc011cjf.1_Missense_Mutation_p.N127S|RXFP1_uc010iqn.2_Missense_Mutation_p.N203S NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 257 Extracellular (Potential).|LRR 5. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CTTGAAGGCAACCATATCCAT 0.264 24 37 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162421275 162421275 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:162421275C>A uc003iqh.2 - 12 1787 c.1351G>T c.(1351-1353)GGG>TGG p.G451W FSTL5_uc003iqi.2_Missense_Mutation_p.G450W|FSTL5_uc010iqv.2_Missense_Mutation_p.G441W NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 451 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AACATGTTCCCAATTCCCAGA 0.333 7 13 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169173723 169173723 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:169173723T>C uc003irp.2 - 27 3934 c.3642A>G c.(3640-3642)CTA>CTG p.L1214L NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1214 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) GGTTCTTCTCTAGACACTTCA 0.388 117 143 --- --- --- --- PASS GALNTL6 442117 broad.mit.edu 37 4 173269755 173269755 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:173269755C>A uc003isv.2 + 5 1204 c.468C>A c.(466-468)CTC>CTA p.L156L NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 156 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GGACTTCACTCCTGCGGACCA 0.428 75 87 --- --- --- --- PASS ASB5 140458 broad.mit.edu 37 4 177138028 177138028 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:177138028C>A uc003iuq.1 - 6 819 c.803G>T c.(802-804)CGA>CTA p.R268L ASB5_uc003iup.1_Missense_Mutation_p.R215L NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 268 intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ATCTATAGGTCGCAGAAGCTC 0.368 44 83 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 162987 162987 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:162987G>C uc003jak.2 + 11 1782 c.1732G>C c.(1732-1734)GGG>CGG p.G578R NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 578 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TCATGCCCTGGGGAAACCGTG 0.647 6 9 --- --- --- --- PASS TAS2R1 50834 broad.mit.edu 37 5 9629767 9629767 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:9629767G>A uc003jem.1 - 1 697 c.378C>T c.(376-378)GTC>GTT p.V126V NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 126 Helical; Name=4; (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 TCATCCATGGGACCAGCTTGG 0.458 28 65 --- --- --- --- PASS FAM173B 134145 broad.mit.edu 37 5 10239306 10239306 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:10239306G>C uc003jeo.2 - 2 208 c.179C>G c.(178-180)ACG>AGG p.T60R FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.T60R NM_199133 NP_954584 Q6P4H8 F173B_HUMAN hypothetical protein LOC134145 60 integral to membrane kidney(1)|central_nervous_system(1) 2 AAGGGCTGGCGTTACAAACGG 0.502 16 146 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23521285 23521285 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:23521285C>A uc003jgo.2 + 6 687 c.505C>A c.(505-507)CTG>ATG p.L169M NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 169 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AAGACTAAAACTGGGTAAGAA 0.463 HNSCC(3;0.000094) 76 64 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26881478 26881478 + Nonsense_Mutation SNP G A A rs113264250 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:26881478G>A uc003jgs.1 - 12 2306 c.2137C>T c.(2137-2139)CAA>TAA p.Q713* CDH9_uc011cnv.1_Nonsense_Mutation_p.Q306* NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 713 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ATAAAATCTTGTACATCAATA 0.418 128 123 --- --- --- --- PASS ZFR 51663 broad.mit.edu 37 5 32380216 32380216 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:32380216C>A uc003jhr.1 - 16 2784 c.2704G>T c.(2704-2706)GCT>TCT p.A902S ZFR_uc010ium.1_Missense_Mutation_p.A33S|ZFR_uc011cny.1_Intron NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 902 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) GCAGCCAGAGCGTCAAGGCAT 0.448 65 98 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33576688 33576688 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:33576688G>T uc003jia.1 - 19 3606 c.3443C>A c.(3442-3444)ACC>AAC p.T1148N ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1063N NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1148 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGGACCTTTGGTCAAGGTATT 0.473 HNSCC(64;0.19) 51 166 --- --- --- --- PASS RAI14 26064 broad.mit.edu 37 5 34811911 34811911 + Silent SNP C T T rs143309351 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:34811911C>T uc003jir.2 + 9 793 c.597C>T c.(595-597)AAC>AAT p.N199N RAI14_uc010iur.2_Silent_p.N199N|RAI14_uc011coj.1_Silent_p.N199N|RAI14_uc010ius.1_Silent_p.N128N|RAI14_uc003jis.2_Silent_p.N202N|RAI14_uc003jit.2_Silent_p.N199N|RAI14_uc011cok.1_Silent_p.N191N NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 199 ANK 6. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) GCAGCTCTAACGCTGTGGAAG 0.388 12 169 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36049139 36049139 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:36049139C>T uc003jjz.1 - 4 788 c.695G>A c.(694-696)GGC>GAC p.G232D UGT3A2_uc011cos.1_Missense_Mutation_p.G198D|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 232 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGGCCTAGAGCCTTCTGTGAA 0.438 38 206 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41181661 41181661 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:41181661C>A uc003jmk.2 - 7 937 c.727G>T c.(727-729)GTA>TTA p.V243L C6_uc003jml.1_Missense_Mutation_p.V243L NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 243 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) GCAGTTTGTACCTGGAGAAAA 0.313 27 62 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256745 63256745 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:63256745C>A uc011cqt.1 - 1 802 c.802G>T c.(802-804)GAG>TAG p.E268* NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 268 Cytoplasmic (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) GCCTTGCTCTCCACGCCCAGC 0.667 39 64 --- --- --- --- PASS CCNB1 891 broad.mit.edu 37 5 68470110 68470110 + Silent SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:68470110G>C uc003jvm.2 + 5 756 c.579G>C c.(577-579)CTG>CTC p.L193L CCNB1_uc011crd.1_Silent_p.L193L|CCNB1_uc010ixb.2_Silent_p.L193L NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 193 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) AATACCTACTGGGTCGGGAAG 0.418 47 62 --- --- --- --- PASS ERAP2 64167 broad.mit.edu 37 5 96235862 96235862 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:96235862G>T uc003kmq.2 + 10 2251 c.1541G>T c.(1540-1542)TGT>TTT p.C514F uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.C514F|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.C463F|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 514 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GGTGGAGTTTGTCATTCGGAT 0.403 54 81 --- --- --- --- PASS GRAMD3 65983 broad.mit.edu 37 5 125816199 125816199 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:125816199T>G uc003ktu.2 + 7 1064 c.634T>G c.(634-636)TCT>GCT p.S212A GRAMD3_uc011cwt.1_Missense_Mutation_p.S227A|GRAMD3_uc011cwv.1_Missense_Mutation_p.S220A|GRAMD3_uc011cww.1_Missense_Mutation_p.S108A|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.S103A|GRAMD3_uc011cwz.1_Missense_Mutation_p.S196A|GRAMD3_uc011cwu.1_Missense_Mutation_p.S196A NM_023927 NP_076416 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 isoform 2 212 central_nervous_system(1) 1 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) ACTACTAAAATCTGTGTGTGG 0.358 35 46 --- --- --- --- PASS PCDHB1 29930 broad.mit.edu 37 5 140432759 140432759 + Missense_Mutation SNP C A A rs137984585 by1000genomes TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:140432759C>A uc003lik.1 + 1 1781 c.1704C>A c.(1702-1704)AAC>AAA p.N568K NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 568 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACTGCAGAACGGCACCTTGC 0.522 37 51 --- --- --- --- PASS PCDHB15 56121 broad.mit.edu 37 5 140625340 140625340 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:140625340G>T uc003lje.2 + 1 194 c.194G>T c.(193-195)CGG>CTG p.R65L NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 65 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGGAGCCCGGGTAGTTTCT 0.552 34 32 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140741405 140741405 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:140741405G>T uc003ljs.1 + 1 1703 c.1703G>T c.(1702-1704)GGG>GTG p.G568V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.G568V|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 568 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGCGCTGGGGCCTGATGGC 0.682 22 28 --- --- --- --- PASS SLC36A1 206358 broad.mit.edu 37 5 150856315 150856315 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:150856315C>A uc003luc.2 + 9 1204 c.987C>A c.(985-987)TGC>TGA p.C329* GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Nonsense_Mutation_p.C329*|SLC36A1_uc010jhw.1_Nonsense_Mutation_p.C329* NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN solute carrier family 36 member 1 329 Extracellular (Potential). C->A,S: Abolishes the transport function. cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity skin(1) 1 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TGCCCAACTGCTGGTACGTGG 0.483 3 42 --- --- --- --- PASS NMUR2 56923 broad.mit.edu 37 5 151772031 151772031 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:151772031G>T uc003luv.2 - 4 1135 c.969C>A c.(967-969)AAC>AAA p.N323K NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 323 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AGATAATGGGGTTGACAGCTG 0.478 42 59 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153056653 153056653 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:153056653G>C uc003lva.3 + 7 1326 c.961G>C c.(961-963)GGG>CGG p.G321R GRIA1_uc003luy.3_Missense_Mutation_p.G321R|GRIA1_uc003luz.3_Missense_Mutation_p.G226R|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G241R|GRIA1_uc011dcx.1_Missense_Mutation_p.G252R|GRIA1_uc011dcy.1_Missense_Mutation_p.G331R|GRIA1_uc011dcz.1_Missense_Mutation_p.G331R|GRIA1_uc010jia.1_Missense_Mutation_p.G301R NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 321 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGGGAATGCTGGGGATTGTCT 0.567 16 22 --- --- --- --- PASS KIF4B 285643 broad.mit.edu 37 5 154393632 154393632 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:154393632G>T uc010jih.1 + 1 373 c.213G>T c.(211-213)CCG>CCT p.P71P NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 71 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGTAGCGCCGCTCATAAAAG 0.463 34 43 --- --- --- --- PASS CAGE1 285782 broad.mit.edu 37 6 7355339 7355339 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:7355339T>C uc003mxi.2 - 8 2431 c.1710A>G c.(1708-1710)ACA>ACG p.T570T CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Silent_p.T523T|CAGE1_uc003mxk.1_Silent_p.T488T NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 706 0 Ovarian(93;0.0418) CTTCATATGATGTAACCTTGA 0.289 33 96 --- --- --- --- PASS CAGE1 285782 broad.mit.edu 37 6 7373309 7373309 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:7373309G>T uc003mxi.2 - 4 2056 c.1335C>A c.(1333-1335)ACC>ACA p.T445T CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Silent_p.T336T|CAGE1_uc003mxk.1_Silent_p.T336T NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 581 0 Ovarian(93;0.0418) TCAATACCTTGGTAATATCTG 0.373 7 39 --- --- --- --- PASS TBC1D7 51256 broad.mit.edu 37 6 13306671 13306671 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:13306671C>G uc003naj.2 - 7 845 c.754G>C c.(754-756)GCA>CCA p.A252P TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Missense_Mutation_p.A252P|TBC1D7_uc003nal.2_Missense_Mutation_p.A252P|TBC1D7_uc003nam.2_Missense_Mutation_p.A252P|TBC1D7_uc003nao.2_Missense_Mutation_p.A225P|TBC1D7_uc010jpd.2_Missense_Mutation_p.A206P|TBC1D7_uc003nap.2_3'UTR NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 isoform a 252 positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity ovary(1) 1 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) CTGTTCAGTGCCATAACTTTT 0.328 33 93 --- --- --- --- PASS TBC1D7 51256 broad.mit.edu 37 6 13306672 13306672 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:13306672C>A uc003naj.2 - 7 844 c.753G>T c.(751-753)ATG>ATT p.M251I TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Missense_Mutation_p.M251I|TBC1D7_uc003nal.2_Missense_Mutation_p.M251I|TBC1D7_uc003nam.2_Missense_Mutation_p.M251I|TBC1D7_uc003nao.2_Missense_Mutation_p.M224I|TBC1D7_uc010jpd.2_Missense_Mutation_p.M205I|TBC1D7_uc003nap.2_3'UTR NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 isoform a 251 positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity ovary(1) 1 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) TGTTCAGTGCCATAACTTTTA 0.333 33 94 --- --- --- --- PASS PGBD1 84547 broad.mit.edu 37 6 28268912 28268912 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:28268912T>C uc003nky.2 + 7 1651 c.1281T>C c.(1279-1281)TTT>TTC p.F427F PGBD1_uc003nkz.2_Silent_p.F427F NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 427 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 AATTATTTTTTGATGATGAAA 0.358 67 134 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28297141 28297141 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:28297141C>A uc003nla.2 - 2 720 c.320G>T c.(319-321)GGG>GTG p.G107V ZNF323_uc003nld.2_Missense_Mutation_p.G107V|ZNF323_uc010jra.2_Missense_Mutation_p.G107V|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Missense_Mutation_p.G107V NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 107 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AGCCTCCTCCCCACTCTCCGG 0.532 90 183 --- --- --- --- PASS OR12D3 81797 broad.mit.edu 37 6 29342776 29342776 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:29342776T>C uc003nme.2 - 1 293 c.289A>G c.(289-291)ACC>GCC p.T97A NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 TGTAGCTGGGTGATACAGCCT 0.468 20 36 --- --- --- --- PASS ABCF1 23 broad.mit.edu 37 6 30557481 30557481 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:30557481G>T uc003nql.2 + 21 2143 c.2048G>T c.(2047-2049)AGA>ATA p.R683I ABCF1_uc003nqm.2_Missense_Mutation_p.R645I|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 683 ABC transporter 2. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 GGGGAAATGAGAAAGAACCAC 0.453 23 66 --- --- --- --- PASS C4A 720 broad.mit.edu 37 6 31997032 31997032 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:31997032A>G uc011dpd.1 + 28 3644 c.3593A>G c.(3592-3594)TAT>TGT p.Y1198C C4A_uc011dpe.1_Missense_Mutation_p.Y1198C NM_007293 NP_009224 P0C0L4 CO4A_HUMAN complement component 4A preproprotein 1198 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity 0 ATCACGGCCTATGCCCTGACA 0.607 19 74 --- --- --- --- PASS HLA-DRB1 3123 broad.mit.edu 37 6 32549334 32549334 + Nonsense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:32549334T>A uc003obp.3 - 3 695 c.652A>T c.(652-654)AGA>TGA p.R218* HLA-DRB1_uc011dqa.1_Nonsense_Mutation_p.R48*|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_Intron|uc010jub.1_5'Flank|HLA-DRB1_uc011dqb.1_Missense_Mutation_p.T48S|HLA-DRB1_uc011dqc.1_Nonsense_Mutation_p.R48* NM_002124 NP_002115 P01911 2B1F_HUMAN major histocompatibility complex, class II, DR 218 Beta-2.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex skin(1) 1 AGCTGCTCACTCCATTCCACT 0.512 Rheumatoid_Arthritis|Sj_gren_syndrome Multiple Myeloma(14;0.17) 7 123 --- --- --- --- PASS TAP2 6891 broad.mit.edu 37 6 32803537 32803537 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:32803537C>T uc003occ.2 - 3 653 c.622G>A c.(622-624)GGC>AGC p.G208S TAP2_uc011dqf.1_Missense_Mutation_p.G208S|TAP2_uc003ocb.1_Missense_Mutation_p.G208S|TAP2_uc003ocd.2_Missense_Mutation_p.G208S NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 208 Helical; Name=5; (Potential).|ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 CCTCGGCAGCCTGCAGACAGT 0.582 37 79 --- --- --- --- PASS ANKS1A 23294 broad.mit.edu 37 6 35027962 35027962 + Nonsense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:35027962G>T uc003ojx.3 + 13 2258 c.2116G>T c.(2116-2118)GAG>TAG p.E706* ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Nonsense_Mutation_p.E246*|ANKS1A_uc010jvp.1_Nonsense_Mutation_p.E80* NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 706 SAM 1. cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 GGAGTGGCTGGAGTCGATTGG 0.552 4 10 --- --- --- --- PASS SCUBE3 222663 broad.mit.edu 37 6 35209601 35209601 + Missense_Mutation SNP C A A rs148936412 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:35209601C>A uc003okf.1 + 12 1337 c.1331C>A c.(1330-1332)ACG>AAG p.T444K SCUBE3_uc003okg.1_Missense_Mutation_p.T443K|SCUBE3_uc003okh.1_Missense_Mutation_p.T331K NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 444 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 AATGGCTTCACGGTGAGCTGT 0.612 OREG0017372 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 40 --- --- --- --- PASS BRPF3 27154 broad.mit.edu 37 6 36172574 36172574 + Nonsense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:36172574C>T uc003olv.3 + 3 1812 c.1588C>T c.(1588-1590)CAA>TAA p.Q530* BRPF3_uc010jwb.2_Nonsense_Mutation_p.Q530*|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Nonsense_Mutation_p.Q530* NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 530 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 TCTGCAGTCCCAAAGAAACGC 0.547 41 133 --- --- --- --- PASS PI16 221476 broad.mit.edu 37 6 36929703 36929703 + Missense_Mutation SNP C A A rs139815357 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:36929703C>A uc003ona.2 + 4 873 c.545C>A c.(544-546)CCG>CAG p.P182Q PI16_uc003omz.1_Missense_Mutation_p.P182Q|PI16_uc003onb.2_Missense_Mutation_p.P182Q|PI16_uc011dts.1_5'UTR NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 182 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 GAGGGGACTCCGTGCTCCCAA 0.642 38 107 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38831802 38831802 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:38831802A>T uc003ooe.1 + 43 6413 c.5813A>T c.(5812-5814)GAT>GTT p.D1938V NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GATTGTGTTGATTTAAATCCA 0.294 19 65 --- --- --- --- PASS KIAA0240 23506 broad.mit.edu 37 6 42797882 42797882 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:42797882C>G uc003osn.1 + 6 1962 c.1811C>G c.(1810-1812)ACA>AGA p.T604R KIAA0240_uc003osm.1_Missense_Mutation_p.T604R|KIAA0240_uc011duw.1_Missense_Mutation_p.T604R|KIAA0240_uc003oso.1_Missense_Mutation_p.T604R|KIAA0240_uc003osp.1_Missense_Mutation_p.T604R NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 604 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) ACACCTGGAACAGGAACCCAG 0.428 23 89 --- --- --- --- PASS PGK2 5232 broad.mit.edu 37 6 49754834 49754834 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:49754834C>G uc003ozu.2 - 1 174 c.67G>C c.(67-69)GTA>CTA p.V23L NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 23 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) TTGAAGTCTACTCTCATGATG 0.428 38 132 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50682845 50682845 + Nonsense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:50682845C>G uc003paf.2 + 2 568 c.56C>G c.(55-57)TCA>TGA p.S19* TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 19 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CACGACGGATCAAACAGCTAC 0.532 19 64 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50740364 50740364 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:50740364C>A uc003paf.2 + 8 1658 c.1146C>A c.(1144-1146)ATC>ATA p.I382I TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 382 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CCAGTTTGATCACTCATGGCT 0.378 22 40 --- --- --- --- PASS COL21A1 81578 broad.mit.edu 37 6 56044420 56044420 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:56044420G>T uc003pcs.2 - 3 828 c.596C>A c.(595-597)GCA>GAA p.A199E COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.A199E|COL21A1_uc003pcu.1_Missense_Mutation_p.A199E NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 199 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TTTGGATATTGCAATATAGTC 0.343 18 41 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56458768 56458768 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:56458768T>A uc003pdf.2 - 42 6090 c.6062A>T c.(6061-6063)GAT>GTT p.D2021V DST_uc003pcz.3_Missense_Mutation_p.D1843V|DST_uc011dxj.1_Missense_Mutation_p.D1872V|DST_uc011dxk.1_Missense_Mutation_p.D1883V|DST_uc003pcy.3_Missense_Mutation_p.D1517V|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3929 Spectrin 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATAGTCAGCATCAAACTTTTC 0.413 17 71 --- --- --- --- PASS KIAA1586 57691 broad.mit.edu 37 6 56919312 56919312 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:56919312G>T uc003pdj.2 + 4 2185 c.2015G>T c.(2014-2016)CGG>CTG p.R672L KIAA1586_uc011dxm.1_Missense_Mutation_p.R645L NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 672 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AATGATTTTCGGGAATTTGTA 0.269 18 34 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 63990387 63990387 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:63990387A>T uc003peh.2 - 4 1103 c.1069T>A c.(1069-1071)TGC>AGC p.C357S LGSN_uc003pei.2_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 357 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) GCCATCAGGCAGCTGAGCGCA 0.498 43 126 --- --- --- --- PASS FAM46A 55603 broad.mit.edu 37 6 82459917 82459917 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:82459917A>T uc003pjg.2 - 3 1142 c.824T>A c.(823-825)CTT>CAT p.L275H FAM46A_uc003pjf.2_Missense_Mutation_p.L294H NM_017633 NP_060103 Q96IP4 FA46A_HUMAN hypothetical protein LOC55603 275 0 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) CTTGTTACAAAGGTGATCAAA 0.502 31 79 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84884584 84884584 + Silent SNP C G G rs143508247 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:84884584C>G uc010kbp.2 - 15 1984 c.1887G>C c.(1885-1887)GCG>GCC p.A629A KIAA1009_uc003pkj.3_Silent_p.A553A|KIAA1009_uc003pkk.2_3'UTR|KIAA1009_uc003pki.3_Silent_p.A15A NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 629 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TTAGGGCTTGCGCACCCCTCC 0.373 7 32 --- --- --- --- PASS HTR1E 3354 broad.mit.edu 37 6 87725512 87725512 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:87725512T>G uc003pli.2 + 2 1163 c.460T>G c.(460-462)TCC>GCC p.S154A NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 154 Helical; Name=4; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CATTTTCATCTCCATGCCCCC 0.557 4 153 --- --- --- --- PASS C6orf165 154313 broad.mit.edu 37 6 88136346 88136346 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:88136346C>A uc003plv.2 + 8 1035 c.943C>A c.(943-945)CCA>ACA p.P315T C6orf165_uc003plw.2_Missense_Mutation_p.P127T|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.P315T NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 315 central_nervous_system(1) 1 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;0.0419) GATAGCGGTCCCAACATCACA 0.343 18 40 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100868805 100868805 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:100868805G>A uc003pqj.3 - 9 1235 c.1028C>T c.(1027-1029)TCC>TTC p.S343F SIM1_uc010kcu.2_Missense_Mutation_p.S343F NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 343 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTGATCCAGGGAGAGCTGCAG 0.537 12 28 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101311979 101311979 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:101311979C>T uc003pqk.2 - 3 531 c.202G>A c.(202-204)GAA>AAA p.E68K ASCC3_uc011eai.1_Intron|ASCC3_uc003pql.2_Missense_Mutation_p.E68K|ASCC3_uc010kcv.2_Missense_Mutation_p.E68K|ASCC3_uc003pqm.2_Missense_Mutation_p.E68K NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 68 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TTTAAGTCTTCATTTATACTT 0.264 37 83 --- --- --- --- PASS MICAL1 64780 broad.mit.edu 37 6 109766434 109766434 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:109766434G>A uc003ptj.2 - 21 3101 c.2847C>T c.(2845-2847)GGC>GGT p.G949G MICAL1_uc003ptk.2_Silent_p.G949G|MICAL1_uc010kdr.2_Silent_p.G863G|MICAL1_uc011eaq.1_Silent_p.G968G NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 949 Potential. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CCAGCTTCACGCCCTCGGCCT 0.577 30 55 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112451160 112451160 + Nonsense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:112451160T>A uc003pvu.2 - 30 4360 c.4051A>T c.(4051-4053)AAG>TAG p.K1351* LAMA4_uc003pvv.2_Nonsense_Mutation_p.K1344*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.K1344* NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1351 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TAAAACTTCTTTTCACTTGCT 0.363 34 70 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117683881 117683881 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:117683881G>C uc003pxp.1 - 21 3465 c.3266C>G c.(3265-3267)TCC>TGC p.S1089C ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1089 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACTTTGATTGGATATATTGTA 0.368 T GOPC|ROS1 glioblastoma|NSCLC 4 163 --- --- --- --- PASS GJA1 2697 broad.mit.edu 37 6 121768134 121768134 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:121768134T>C uc003pyr.2 + 2 391 c.141T>C c.(139-141)GAT>GAC p.D47D GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 47 Extracellular (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CCTGGGGAGATGAGCAGTCTG 0.512 39 91 --- --- --- --- PASS NKAIN2 154215 broad.mit.edu 37 6 124676411 124676411 + Splice_Site SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:124676411A>T uc003pzo.2 + 3 470 c.193_splice c.e3-2 p.Y65_splice NKAIN2_uc003pzn.1_Splice_Site_p.Y65_splice|NKAIN2_uc003pzp.2_Splice_Site_p.Y64_splice|NKAIN2_uc010keq.2_Splice_Site_p.Y65_splice|NKAIN2_uc010ker.2_Splice_Site NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) GCTTCTCTACAGTATGCTGTC 0.373 81 168 --- --- --- --- PASS NCOA7 135112 broad.mit.edu 37 6 126210679 126210679 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:126210679G>T uc010kes.2 + 11 1928 c.1479G>T c.(1477-1479)ATG>ATT p.M493I NCOA7_uc003qae.3_Missense_Mutation_p.M493I|NCOA7_uc003qah.2_Missense_Mutation_p.M482I|NCOA7_uc003qai.2_Missense_Mutation_p.M493I|NCOA7_uc010ket.2_Missense_Mutation_p.M378I NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 493 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) AAGATATAATGCCAGAAGTGG 0.418 4 88 --- --- --- --- PASS C6orf174 387104 broad.mit.edu 37 6 127796469 127796469 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:127796469C>T uc003qbd.2 - 6 3567 c.2702G>A c.(2701-2703)CGC>CAC p.R901H C6orf174_uc003qbc.2_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 901 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CTCGGCGCCGCGGTCGTCCGC 0.667 37 66 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136599046 136599046 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:136599046C>A uc003qgx.1 - 4 1226 c.973G>T c.(973-975)GGT>TGT p.G325C BCLAF1_uc003qgw.1_Missense_Mutation_p.G325C|BCLAF1_uc003qgy.1_Missense_Mutation_p.G323C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G323C NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 325 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGATCTCCACCATCAGGATAA 0.388 24 198 --- --- --- --- PASS IFNGR1 3459 broad.mit.edu 37 6 137524818 137524818 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:137524818T>C uc003qho.2 - 5 654 c.551A>G c.(550-552)CAG>CGG p.Q184R IFNGR1_uc011edm.1_Missense_Mutation_p.Q156R|IFNGR1_uc011edn.1_3'UTR NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 184 Extracellular (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TATTTTATACTGGATCTAGAT 0.358 16 66 --- --- --- --- PASS GPR126 57211 broad.mit.edu 37 6 142736163 142736163 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:142736163A>C uc010khc.2 + 19 3010 c.2599A>C c.(2599-2601)ATC>CTC p.I867L GPR126_uc010khd.2_Missense_Mutation_p.I839L|GPR126_uc010khe.2_Missense_Mutation_p.I867L|GPR126_uc010khf.2_Missense_Mutation_p.I839L NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 867 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CCTCACTTTCATCAGCTATAT 0.393 4 109 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146480689 146480689 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:146480689C>T uc010khw.1 + 3 1376 c.906C>T c.(904-906)GCC>GCT p.A302A GRM1_uc010khu.1_Silent_p.A302A|GRM1_uc010khv.1_Silent_p.A302A|GRM1_uc003qll.2_Silent_p.A302A|GRM1_uc011edz.1_Silent_p.A302A|GRM1_uc011eea.1_Silent_p.A302A NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 302 Extracellular (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) TCCTGAGCGCCATGCGGCGCC 0.438 17 76 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146755690 146755690 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:146755690C>G uc010khw.1 + 9 3813 c.3343C>G c.(3343-3345)CGG>GGG p.R1115G 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 1115 Asp/Glu-rich (acidic).|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) TGAGCACGAGCGGGAAGGGAA 0.632 47 119 --- --- --- --- PASS LATS1 9113 broad.mit.edu 37 6 150023190 150023190 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:150023190C>A uc003qmu.1 - 2 621 c.73G>T c.(73-75)GTC>TTC p.V25F LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Missense_Mutation_p.V25F|LATS1_uc003qmw.2_Missense_Mutation_p.V25F|LATS1_uc010kig.1_5'UTR NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 25 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CGGCTACTGACAGTATAGTTA 0.408 41 130 --- --- --- --- PASS RGS17 26575 broad.mit.edu 37 6 153332881 153332881 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:153332881C>A uc003qpm.2 - 5 617 c.461G>T c.(460-462)CGA>CTA p.R154L NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 154 RGS. negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) CTCTCTAACTCGAGAATCAAG 0.318 Lung_Cancer_Familial_Clustering_of 3 104 --- --- --- --- PASS RBM16 22828 broad.mit.edu 37 6 155116180 155116180 + Silent SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:155116180C>G uc003qqa.2 + 7 745 c.513C>G c.(511-513)GTC>GTG p.V171V RBM16_uc011efj.1_Silent_p.V237V|RBM16_uc011efk.1_Silent_p.V216V|RBM16_uc003qpz.2_Silent_p.V171V|RBM16_uc010kji.2_Silent_p.V192V NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 171 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) CCAATGTGGTCCAAGGCTTAC 0.443 13 187 --- --- --- --- PASS RSPH3 83861 broad.mit.edu 37 6 159404818 159404818 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:159404818G>C uc003qrx.2 - 4 984 c.794C>G c.(793-795)GCT>GGT p.A265G RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Missense_Mutation_p.A265G NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog 265 ovary(1)|skin(1) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) TATGCGATCAGCAATTTCTTC 0.289 3 130 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 160978440 160978440 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:160978440C>T uc003qtl.2 - 30 4915 c.4795G>A c.(4795-4797)GAG>AAG p.E1599K NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4107 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) GAATGAGCCTCCATGCTTGGA 0.463 50 116 --- --- --- --- PASS BRP44L 51660 broad.mit.edu 37 6 166780282 166780282 + Splice_Site SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:166780282C>T uc011egn.1 - 2 294 c.172_splice c.e2+1 p.A58_splice BRP44L_uc003qva.2_Splice_Site NM_016098 NP_057182 Q9Y5U8 BR44L_HUMAN brain protein 44-like mitochondrion central_nervous_system(1) 1 Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199) OV - Ovarian serous cystadenocarcinoma(33;1.8e-19)|BRCA - Breast invasive adenocarcinoma(81;4.68e-06)|GBM - Glioblastoma multiforme(31;0.000122) TGCATTCTTACCAAATGTCAT 0.433 64 156 --- --- --- --- PASS KIF25 3834 broad.mit.edu 37 6 168440882 168440882 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:168440882G>A uc003qwk.1 + 6 894 c.632G>A c.(631-633)TGC>TAC p.C211Y KIF25_uc003qwl.1_Missense_Mutation_p.C211Y NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 211 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) ACAGCCTCCTGCTCTGACAGC 0.458 11 27 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169632797 169632797 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:169632797C>A uc003qwt.2 - 13 2142 c.1894G>T c.(1894-1896)GTC>TTC p.V632F NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 632 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCGACCCCGACGGGCTGGTTC 0.607 36 92 --- --- --- --- PASS SUN1 23353 broad.mit.edu 37 7 908998 908998 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:908998C>T uc011jvp.1 + 18 2072 c.1993C>T c.(1993-1995)CCC>TCC p.P665S GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Missense_Mutation_p.P582S|SUN1_uc011jvq.1_Missense_Mutation_p.P562S|SUN1_uc003sjg.2_Missense_Mutation_p.P570S|SUN1_uc011jvr.1_Missense_Mutation_p.P463S|SUN1_uc003sji.2_Missense_Mutation_p.P503S|SUN1_uc003sjk.2_Missense_Mutation_p.P304S NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 692 Perinuclear space.|SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 TGACATTTACCCCGGTAACTG 0.522 82 244 --- --- --- --- PASS GET4 51608 broad.mit.edu 37 7 925710 925710 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:925710A>T uc003sjl.1 + 2 265 c.173A>T c.(172-174)AAG>ATG p.K58M GET4_uc003sjj.1_RNA NM_015949 NP_057033 Q7L5D6 GET4_HUMAN hypothetical protein LOC51608 58 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding 0 TCCCAGAGCAAGCACACGGAG 0.622 14 63 --- --- --- --- PASS PAPOLB 56903 broad.mit.edu 37 7 4901270 4901270 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:4901270C>T uc003snk.2 - 1 356 c.172G>A c.(172-174)GAA>AAA p.E58K RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 57 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) CGCTGCAGTTCCTCTTCCTCT 0.488 9 31 --- --- --- --- PASS COL28A1 340267 broad.mit.edu 37 7 7472140 7472140 + Silent SNP C T T rs115295026 by1000genomes TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:7472140C>T uc003src.1 - 25 2079 c.1962G>A c.(1960-1962)CCG>CCA p.P654P COL28A1_uc011jxe.1_Silent_p.P337P|COL28A1_uc003srd.2_Silent_p.P209P|COL28A1_uc003sre.1_Silent_p.P75P NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 654 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GTAAACCCATCGGCCCAGGGG 0.512 29 97 --- --- --- --- PASS MEOX2 4223 broad.mit.edu 37 7 15725582 15725582 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:15725582T>C uc003stc.2 - 1 727 c.446A>G c.(445-447)TAC>TGC p.Y149C MEOX2_uc011jxw.1_Missense_Mutation_p.Y149C NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 149 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CTGGCGGCCGTAGTCCCCCGG 0.706 36 58 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21778329 21778329 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:21778329G>C uc003svc.2 + 48 7708 c.7677G>C c.(7675-7677)GAG>GAC p.E2559D NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2559 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AAATTCTTGAGAAACCCCTAG 0.333 Kartagener_syndrome 5 3 --- --- --- --- PASS MPP6 51678 broad.mit.edu 37 7 24705258 24705258 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:24705258C>A uc003swx.2 + 8 1134 c.835C>A c.(835-837)CTG>ATG p.L279M MPP6_uc003swy.2_Missense_Mutation_p.L279M|MPP6_uc010kur.2_5'Flank NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 279 SH3. protein complex assembly protein binding 0 AAGCCAGTTCCTGGAAGAGAA 0.428 4 103 --- --- --- --- PASS WIPF3 644150 broad.mit.edu 37 7 29915547 29915547 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:29915547G>T uc003taj.1 + 2 192 c.192G>T c.(190-192)CAG>CAT p.Q64H NM_001080529 NP_001073998 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 64 ovary(1) 1 AAGTCACGCAGATCAACGACC 0.602 25 40 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31123863 31123863 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:31123863C>G uc003tca.1 + 7 659 c.436C>G c.(436-438)CAG>GAG p.Q146E ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.Q125E|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.Q146E|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.Q146E|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.Q146E|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 146 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 GACTGGGGACCAGGTGAGTGT 0.552 10 45 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31124950 31124950 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:31124950A>G uc003tca.1 + 9 785 c.562A>G c.(562-564)ATC>GTC p.I188V ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.I167V|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.I188V|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.I188V|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.I188V|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 188 Helical; Name=2; (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 ACGCAACTTCATCCACATGAA 0.532 56 103 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 32209413 32209413 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:32209413C>A uc003tco.1 - 3 886 c.292G>T c.(292-294)GTG>TTG p.V98L NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C Error:Variant_position_missing_in_Q14123_after_alignment activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) GATGTCTTCACCAAGACTTCT 0.473 5 54 --- --- --- --- PASS TBX20 57057 broad.mit.edu 37 7 35244188 35244188 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:35244188A>G uc011kas.1 - 7 908 c.897T>C c.(895-897)AGT>AGC p.S299S NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 299 nucleus DNA binding central_nervous_system(1) 1 GGCTCTCCACACTTTCCCTAG 0.448 13 22 --- --- --- --- PASS PGAM2 5224 broad.mit.edu 37 7 44104982 44104982 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:44104982C>T uc003tjs.2 - 1 182 c.147G>A c.(145-147)AAG>AAA p.K49K NM_000290 NP_000281 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 49 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity 0 CAAACTCCATCTTGGCATCCT 0.607 24 68 --- --- --- --- PASS PHTF2 57157 broad.mit.edu 37 7 77579098 77579098 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:77579098G>T uc003ugs.3 + 16 2189 c.2063G>T c.(2062-2064)GGA>GTA p.G688V PHTF2_uc003ugq.3_Missense_Mutation_p.G650V|PHTF2_uc010ldv.2_Intron|PHTF2_uc003ugt.3_Missense_Mutation_p.G654V|PHTF2_uc003ugu.3_Missense_Mutation_p.G650V NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 688 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 GTTACCCTTGGATCAGAAACA 0.333 7 19 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82595319 82595319 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:82595319T>G uc003uhx.2 - 4 4074 c.3785A>C c.(3784-3786)CAT>CCT p.H1262P PCLO_uc003uhv.2_Missense_Mutation_p.H1262P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1201 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AAGTAAGTCATGTTTCTGTTC 0.423 8 282 --- --- --- --- PASS SEMA3D 223117 broad.mit.edu 37 7 84644417 84644417 + Nonsense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:84644417C>T uc003uic.2 - 14 1701 c.1661G>A c.(1660-1662)TGG>TAG p.W554* SEMA3D_uc010led.2_Nonsense_Mutation_p.W554*|SEMA3D_uc003uib.2_Nonsense_Mutation_p.W193* NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 554 PSI. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 ATTTCCATCCCAGGCACAGTA 0.473 42 101 --- --- --- --- PASS SEMA3D 223117 broad.mit.edu 37 7 84702362 84702362 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:84702362G>A uc003uic.2 - 4 451 c.411C>T c.(409-411)CCC>CCT p.P137P SEMA3D_uc010led.2_Silent_p.P137P|SEMA3D_uc010lee.1_Silent_p.P137P NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 137 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TTTTGTTATAGGGCTGAAGTA 0.328 32 89 --- --- --- --- PASS ADAM22 53616 broad.mit.edu 37 7 87774742 87774742 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:87774742G>A uc003ujn.2 + 17 1484 c.1405G>A c.(1405-1407)GAA>AAA p.E469K ADAM22_uc003ujk.1_Missense_Mutation_p.E469K|ADAM22_uc003ujl.1_Missense_Mutation_p.E469K|ADAM22_uc003ujm.2_Missense_Mutation_p.E469K|ADAM22_uc003ujo.2_Missense_Mutation_p.E469K|ADAM22_uc003ujp.1_Missense_Mutation_p.E521K NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 469 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ATGTGTCCTTGAAGGAGCAGA 0.353 40 116 --- --- --- --- PASS PEX1 5189 broad.mit.edu 37 7 92134131 92134131 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:92134131A>G uc003uly.2 - 12 2082 c.1986T>C c.(1984-1986)GAT>GAC p.D662D PEX1_uc011khr.1_Silent_p.D454D|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Silent_p.D340D|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 662 Missing (in NALD). microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GGTCAAGGTCATCCAGCAGGA 0.507 82 217 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93065476 93065476 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:93065476A>C uc003umv.1 - 13 1300 c.1039T>G c.(1039-1041)TTC>GTC p.F347V CALCR_uc011kia.1_Missense_Mutation_p.F127V|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.F313V|CALCR_uc003umw.2_Missense_Mutation_p.F313V NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 329 Helical; Name=5; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) AAAAAGAAGAAATTGACCTGC 0.423 17 36 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677255 100677255 + Missense_Mutation SNP C A A rs140905069 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:100677255C>A uc003uxp.1 + 3 2611 c.2558C>A c.(2557-2559)ACC>AAC p.T853N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 853 Extracellular (Potential).|12.|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) GCTGAAGGTACCAGCATGCCA 0.488 123 375 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100684625 100684625 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:100684625A>T uc003uxp.1 + 3 9981 c.9928A>T c.(9928-9930)ACA>TCA p.T3310S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3310 Extracellular (Potential).|54.|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) TGACACCAGCACACCTGTGAC 0.488 95 260 --- --- --- --- PASS MOGAT3 346606 broad.mit.edu 37 7 100842049 100842049 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:100842049C>T uc003uyc.2 - 4 518 c.351G>A c.(349-351)GGG>GGA p.G117G MOGAT3_uc010lhr.2_Silent_p.G117G NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 117 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) TACACATGATCCCATGAGGGT 0.612 46 104 --- --- --- --- PASS PUS7 54517 broad.mit.edu 37 7 105099694 105099694 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:105099694T>C uc003vcx.2 - 15 1989 c.1770A>G c.(1768-1770)GCA>GCG p.A590A PUS7_uc010lji.2_Silent_p.A596A|PUS7_uc003vcy.2_Silent_p.A590A|PUS7_uc003vcz.1_Silent_p.A590A NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 590 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 GATCATCATATGCAACGACTT 0.363 27 70 --- --- --- --- PASS CBLL1 79872 broad.mit.edu 37 7 107398830 107398830 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:107398830A>G uc003veq.2 + 6 1013 c.683A>G c.(682-684)CAT>CGT p.H228R CBLL1_uc011kme.1_Missense_Mutation_p.H107R|CBLL1_uc011kmf.1_Missense_Mutation_p.H227R NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 228 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 GACAAGCACCATATGAGCCAT 0.468 63 147 --- --- --- --- PASS IMMP2L 83943 broad.mit.edu 37 7 110603570 110603570 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:110603570T>C uc003vfq.1 - 4 734 c.291A>G c.(289-291)GAA>GAG p.E97E IMMP2L_uc010ljr.1_Silent_p.E97E|IMMP2L_uc003vfr.2_Silent_p.E97E NM_032549 NP_115938 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane protease-like 97 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) CAATATCTCCTTCAAGAGCAA 0.328 29 70 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121653494 121653494 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:121653494G>A uc003vjy.2 + 12 4789 c.4394G>A c.(4393-4395)AGT>AAT p.S1465N PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1465 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CACGAAAACAGTCTTATGGAT 0.378 17 107 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123119903 123119903 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:123119903T>C uc003vkn.2 - 8 1933 c.1356A>G c.(1354-1356)AGA>AGG p.R452R IQUB_uc003vko.2_Silent_p.R452R|IQUB_uc010lkt.2_Intron|IQUB_uc003vkp.1_Silent_p.R452R NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 452 ovary(3)|large_intestine(1) 4 AAGCAATGTATCTATGTCTCC 0.358 40 88 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173774 126173774 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:126173774T>A uc003vlr.2 - 8 1973 c.1662A>T c.(1660-1662)GAA>GAT p.E554D GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E554D|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 554 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GAGGGCAAAGTTCACAGGACA 0.552 HNSCC(24;0.065) 40 100 --- --- --- --- PASS MIR490 574443 broad.mit.edu 37 7 136587972 136587972 + RNA SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:136587972C>G hsa-mir-490|MI0003125 + c.59C>G CHRM2_uc003vtf.1_Intron|CHRM2_uc003vtg.1_Intron|CHRM2_uc003vtj.1_Intron|CHRM2_uc003vtk.1_Intron|CHRM2_uc003vtl.1_Intron|CHRM2_uc003vtm.1_Intron|CHRM2_uc003vti.1_Intron|CHRM2_uc003vto.1_Intron|CHRM2_uc003vtn.1_Intron|uc003vtp.1_Intron 0 CCAGGTGGGTCAAGTTTAGAG 0.493 48 116 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141740548 141740548 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:141740548A>G uc003vwy.2 + 21 2454 c.2400A>G c.(2398-2400)CAA>CAG p.Q800Q NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 800 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGAGGAAGCAAAAAGTCGAGA 0.478 12 33 --- --- --- --- PASS OR6V1 346517 broad.mit.edu 37 7 142749667 142749667 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:142749667C>A uc011ksv.1 + 1 230 c.230C>A c.(229-231)CCC>CAC p.P77H NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 77 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) ACTGCAGTGCCCAGGATGCTC 0.507 82 200 --- --- --- --- PASS OR2F2 135948 broad.mit.edu 37 7 143632563 143632563 + Nonsense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:143632563C>T uc011ktv.1 + 1 238 c.238C>T c.(238-240)CAG>TAG p.Q80* NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CGTAGTCCCCCAGCTGCTGGC 0.512 106 266 --- --- --- --- PASS ZNF398 57541 broad.mit.edu 37 7 148851301 148851301 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:148851301G>C uc003wfl.2 + 2 564 c.289G>C c.(289-291)GCC>CCC p.A97P ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.A102P NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 97 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) GGGCAAGTGGGCCGTGCTGGG 0.592 31 103 --- --- --- --- PASS ZNF398 57541 broad.mit.edu 37 7 148851390 148851390 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:148851390G>T uc003wfl.2 + 2 653 c.378G>T c.(376-378)TGG>TGT p.W126C ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.W131C NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 126 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) GGAACTTCTGGATCCTGCGGC 0.522 40 67 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149514991 149514991 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:149514991C>G uc010lpk.2 + 81 11381 c.11381C>G c.(11380-11382)TCG>TGG p.S3794W NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3794 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCCCCCAGCTCGTGTGCACAC 0.662 8 34 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151919670 151919670 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr7:151919670G>A uc003wla.2 - 21 3640 c.3421C>T c.(3421-3423)CCT>TCT p.P1141S MLL3_uc003wkz.2_Missense_Mutation_p.P202S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1141 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTAGACGCAGGCATATAGGGT 0.398 N medulloblastoma 4 62 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3165281 3165281 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:3165281C>A uc011kwk.1 - 25 4279 c.3889G>T c.(3889-3891)GCT>TCT p.A1297S CSMD1_uc011kwj.1_Missense_Mutation_p.A689S|CSMD1_uc003wqe.2_Missense_Mutation_p.A453S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1297 Extracellular (Potential).|CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCATACGGAGCTGGATAGCCA 0.468 68 89 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 12943812 12943812 + Silent SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:12943812T>G uc003wwm.2 - 17 4897 c.4453A>C c.(4453-4455)AGA>CGA p.R1485R DLC1_uc003wwk.1_Silent_p.R1048R|DLC1_uc003wwl.1_Silent_p.R1082R|DLC1_uc011kxx.1_Silent_p.R974R NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1485 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 AAGTCAACTCTGCACATGTAG 0.423 32 47 --- --- --- --- PASS STC1 6781 broad.mit.edu 37 8 23708998 23708998 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:23708998A>T uc003xdw.1 - 3 592 c.308T>A c.(307-309)GTC>GAC p.V103D NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 103 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) CTTGGAGGTGACCCCGTTGGC 0.517 12 48 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35583956 35583956 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:35583956C>A uc003xjr.1 + 10 1918 c.1590C>A c.(1588-1590)ATC>ATA p.I530I UNC5D_uc003xjs.1_Silent_p.I525I|UNC5D_uc003xju.1_Silent_p.I106I|UNC5D_uc003xjt.1_Silent_p.I288I NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 530 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGCCCTACATCCAAAATCTGT 0.473 58 83 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39537603 39537603 + Missense_Mutation SNP C A A rs140616028 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:39537603C>A uc003xni.2 + 16 1679 c.1679C>A c.(1678-1680)GCT>GAT p.A560D ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.A536D NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 560 Cys-rich.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATAAAAATGCTAATAAAAGT 0.363 22 99 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39624421 39624421 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:39624421T>A uc003xnj.2 - 14 1528 c.1453A>T c.(1453-1455)ATA>TTA p.I485L ADAM2_uc003xnk.2_Missense_Mutation_p.I466L|ADAM2_uc011lck.1_Missense_Mutation_p.I485L|ADAM2_uc003xnl.2_Missense_Mutation_p.I359L NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 485 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ACTCCATCTATACAGATCCAT 0.393 71 150 --- --- --- --- PASS ZMAT4 79698 broad.mit.edu 37 8 40438772 40438772 + Missense_Mutation SNP G T T rs144919411 by1000genomes TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:40438772G>T uc003xnr.2 - 6 732 c.586C>A c.(586-588)CGC>AGC p.R196S ZMAT4_uc003xns.2_Missense_Mutation_p.R120S NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 196 nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CTGTAATTGCGCCTCAGACCT 0.463 23 90 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43197461 43197461 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:43197461G>C uc003xpz.1 + 11 1393 c.1350G>C c.(1348-1350)ATG>ATC p.M450I POTEA_uc003xqa.1_Missense_Mutation_p.M404I NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 450 ovary(1) 1 AACTCAAAATGGATTTTAACG 0.368 53 124 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55533890 55533890 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:55533890C>T uc003xsd.1 + 2 512 c.364C>T c.(364-366)CGG>TGG p.R122W RP1_uc011ldy.1_Missense_Mutation_p.R122W NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 122 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAAAGCCCGTCGGCGCCCGCG 0.711 35 41 --- --- --- --- PASS ASPH 444 broad.mit.edu 37 8 62460751 62460751 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:62460751T>A uc003xuj.2 - 21 1912 c.1643A>T c.(1642-1644)GAG>GTG p.E548V ASPH_uc011leg.1_Missense_Mutation_p.E519V NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 548 TPR 4.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) GTGCCCAAGCTCATACCACTT 0.388 31 102 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70585235 70585235 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:70585235C>A uc003xyl.2 - 10 3123 c.2416G>T c.(2416-2418)GAA>TAA p.E806* SLCO5A1_uc010lzb.2_Nonsense_Mutation_p.E751*|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 806 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCAGTCTCTTCGTGGAATTCT 0.587 61 77 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77616444 77616444 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:77616444G>T uc003yav.2 + 2 508 c.121G>T c.(121-123)GAC>TAC p.D41Y ZFHX4_uc003yat.1_Missense_Mutation_p.D41Y|ZFHX4_uc003yau.1_Missense_Mutation_p.D41Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D41Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 41 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) GATGGAGCCTGACAGGGAAAA 0.498 HNSCC(33;0.089) 7 71 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77766009 77766009 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:77766009T>A uc003yav.2 + 10 7104 c.6717T>A c.(6715-6717)AGT>AGA p.S2239R ZFHX4_uc003yau.1_Missense_Mutation_p.S2284R|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2239R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2239 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) CACGAAAGAGTTATGAGAATC 0.388 HNSCC(33;0.089) 18 21 --- --- --- --- PASS WWP1 11059 broad.mit.edu 37 8 87424104 87424104 + Splice_Site SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:87424104G>T uc003ydt.2 + 9 1341 c.1061_splice c.e9+1 p.G354_splice WWP1_uc010mai.2_Splice_Site_p.G130_splice NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 TGCCATCAGGGTATGTTAAGC 0.403 20 78 --- --- --- --- PASS CPNE3 8895 broad.mit.edu 37 8 87549866 87549866 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:87549866C>T uc003ydv.2 + 7 697 c.535C>T c.(535-537)CGG>TGG p.R179W NM_003909 NP_003900 O75131 CPNE3_HUMAN copine III 179 C2 2. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity ovary(1)|skin(1) 2 AATGGTTCATCGGACAGAGGT 0.323 53 88 --- --- --- --- PASS SPAG1 6674 broad.mit.edu 37 8 101252883 101252883 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:101252883C>G uc003yjh.1 + 18 2619 c.2533C>G c.(2533-2535)CTT>GTT p.L845V SPAG1_uc003yji.1_Missense_Mutation_p.L845V NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 845 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AAGTAACAAACTTGAAGGGGA 0.368 59 66 --- --- --- --- PASS RSPO2 340419 broad.mit.edu 37 8 108970453 108970453 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:108970453G>T uc003yms.2 - 5 1129 c.471C>A c.(469-471)AGC>AGA p.S157R RSPO2_uc003ymq.2_Missense_Mutation_p.S90R|RSPO2_uc003ymr.2_Missense_Mutation_p.S93R NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 157 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) GATTATTTCTGCTACAAGTTC 0.373 95 117 --- --- --- --- PASS RSPO2 340419 broad.mit.edu 37 8 108972938 108972938 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:108972938C>A uc003yms.2 - 4 1049 c.391G>T c.(391-393)GGT>TGT p.G131C RSPO2_uc003ymq.2_Missense_Mutation_p.G64C|RSPO2_uc003ymr.2_Missense_Mutation_p.G68C NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 131 FU. Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) GGTGCAAAACCATCTGGACAT 0.348 31 129 --- --- --- --- PASS RSPO2 340419 broad.mit.edu 37 8 109001408 109001408 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:109001408G>C uc003yms.2 - 3 817 c.159C>G c.(157-159)AGC>AGG p.S53R RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 53 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) GTTGACATCGGCTACACCCAT 0.428 61 60 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113331147 113331147 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:113331147A>T uc003ynu.2 - 47 7438 c.7279T>A c.(7279-7281)TTT>ATT p.F2427I CSMD3_uc003yns.2_Missense_Mutation_p.F1629I|CSMD3_uc003ynt.2_Missense_Mutation_p.F2387I|CSMD3_uc011lhx.1_Missense_Mutation_p.F2323I|CSMD3_uc003ynw.1_Missense_Mutation_p.F138I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2427 Extracellular (Potential).|Sushi 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACTAAAGTAAATCCTGGAAGA 0.368 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 97 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118159291 118159291 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:118159291C>A uc003yoh.2 + 2 400 c.170C>A c.(169-171)TCC>TAC p.S57Y SLC30A8_uc010mcz.2_Missense_Mutation_p.S8Y|SLC30A8_uc011lia.1_Missense_Mutation_p.S8Y|SLC30A8_uc003yog.2_Missense_Mutation_p.S8Y NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 57 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CACAGTGGCTCCAAGCCCACA 0.507 74 159 --- --- --- --- PASS WDR67 93594 broad.mit.edu 37 8 124140744 124140744 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:124140744T>C uc003ypp.1 + 14 2198 c.2108T>C c.(2107-2109)TTA>TCA p.L703S WDR67_uc011lig.1_Missense_Mutation_p.L703S|WDR67_uc011lih.1_Missense_Mutation_p.L593S|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Missense_Mutation_p.L160S|WDR67_uc003ypu.1_Missense_Mutation_p.L160S NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 703 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TTGGATTACTTAAGAGAGAGG 0.259 13 108 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131797656 131797656 + Silent SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:131797656G>C uc003ytd.3 - 16 3382 c.3126C>G c.(3124-3126)GCC>GCG p.A1042A ADCY8_uc010mds.2_Silent_p.A911A NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1042 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGCCTGACACGGCCATGTAGG 0.498 HNSCC(32;0.087) 17 137 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133144504 133144504 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:133144504G>T uc003ytj.2 - 14 2032 c.1807C>A c.(1807-1809)CCA>ACA p.P603T KCNQ3_uc010mdt.2_Missense_Mutation_p.P591T NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 603 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GCTACATATGGTTCATTCCTA 0.413 59 83 --- --- --- --- PASS PTP4A3 11156 broad.mit.edu 37 8 142432440 142432440 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:142432440A>C uc003ywg.1 + 1 434 c.100A>C c.(100-102)ATT>CTT p.I34L PTP4A3_uc003ywh.1_Missense_Mutation_p.I34L|PTP4A3_uc010met.1_Missense_Mutation_p.I34L NM_032611 NP_116000 O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 34 early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) CAGCACCTTCATTGAGGTGAG 0.657 3 133 --- --- --- --- PASS LYNX1 66004 broad.mit.edu 37 8 143846081 143846081 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:143846081C>A uc003yxb.2 - 5 965 c.338G>T c.(337-339)GGC>GTC p.G113V LYNX1_uc003yxa.2_Missense_Mutation_p.G79V NM_023946 NP_076435 Q9BZG9 LYNX1_HUMAN Ly-6 neurotoxin-like protein 1 isoform a Error:Variant_position_missing_in_Q9BZG9_after_alignment anchored to membrane|plasma membrane 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGGGCCCAGGCCCAGGCTGGG 0.642 23 72 --- --- --- --- PASS GPAA1 8733 broad.mit.edu 37 8 145138899 145138899 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr8:145138899G>T uc003zax.2 + 5 682 c.572G>T c.(571-573)GGC>GTC p.G191V GPAA1_uc003zav.1_Missense_Mutation_p.G69V|GPAA1_uc003zaw.1_Missense_Mutation_p.G131V NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 191 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GACCTTCTGGGCACTGAGGCT 0.562 16 125 --- --- --- --- PASS KANK1 23189 broad.mit.edu 37 9 712600 712600 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:712600G>T uc003zgl.1 + 7 2483 c.1834G>T c.(1834-1836)GAC>TAC p.D612Y KANK1_uc003zgm.2_Missense_Mutation_p.D612Y|KANK1_uc003zgn.1_Missense_Mutation_p.D612Y|KANK1_uc003zgo.1_Missense_Mutation_p.D612Y|KANK1_uc003zgp.1_Missense_Mutation_p.D612Y|KANK1_uc003zgq.2_Missense_Mutation_p.D454Y|KANK1_uc003zgr.1_Missense_Mutation_p.D454Y|KANK1_uc003zgs.1_Missense_Mutation_p.D454Y NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 612 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GTCTGTGAACGACCTCACACT 0.507 30 28 --- --- --- --- PASS KIAA1432 57589 broad.mit.edu 37 9 5763761 5763761 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:5763761C>T uc003zji.2 + 18 2590 c.2497C>T c.(2497-2499)CTG>TTG p.L833L KIAA1432_uc003zjh.2_Silent_p.L833L|KIAA1432_uc003zjl.3_Silent_p.L796L|KIAA1432_uc003zjj.1_Silent_p.L375L NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 912 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CGAATATGCCCTGTGGAATTA 0.478 70 82 --- --- --- --- PASS NOL6 65083 broad.mit.edu 37 9 33464075 33464075 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:33464075C>T uc003zsz.2 - 22 2965 c.2864G>A c.(2863-2865)CGC>CAC p.R955H SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R9H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R952H|NOL6_uc011lob.1_Missense_Mutation_p.R903H|NOL6_uc003ztb.1_Missense_Mutation_p.R955H NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 955 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGAGTTTTTGCGGTCTTGGGG 0.567 4 166 --- --- --- --- PASS TPM2 7169 broad.mit.edu 37 9 35685691 35685691 + Silent SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:35685691G>C uc003zxq.2 - 3 566 c.327C>G c.(325-327)GCC>GCG p.A109A TPM2_uc003zxr.2_Silent_p.A109A|TPM2_uc003zxs.2_Silent_p.A109A|TPM2_uc010mkz.2_Silent_p.A109A|TPM2_uc011lpa.1_Silent_p.A109A NM_213674 NP_998839 P07951 TPM2_HUMAN tropomyosin 2 (beta) isoform 2 109 By similarity. muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle ovary(1) 1 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCTTCTGCAGGGCTGTAGCCA 0.672 137 67 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37746351 37746351 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:37746351G>A uc004aag.1 + 16 4366 c.4322G>A c.(4321-4323)GGG>GAG p.G1441E FRMPD1_uc004aah.1_Missense_Mutation_p.G1441E NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1441 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) ACTTCCTGGGGGGTTGGAAAC 0.572 14 27 --- --- --- --- PASS TMC1 117531 broad.mit.edu 37 9 75407166 75407166 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:75407166G>A uc004aiz.1 + 17 2004 c.1464G>A c.(1462-1464)AAG>AAA p.K488K TMC1_uc010moz.1_Silent_p.K446K|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.K342K|TMC1_uc010mpa.1_Silent_p.K342K NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 488 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 ATATGATCAAGGCCTACAATG 0.428 151 304 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77418743 77418743 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:77418743C>A uc004ajl.1 - 15 1936 c.1698G>T c.(1696-1698)CAG>CAT p.Q566H TRPM6_uc004ajk.1_Missense_Mutation_p.Q561H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_5'Flank NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 566 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TTCTAATGAACTGGGAGTGCA 0.423 108 209 --- --- --- --- PASS TLE1 7088 broad.mit.edu 37 9 84199166 84199166 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:84199166T>C uc004aly.2 - 20 2701 c.2260A>G c.(2260-2262)ATA>GTA p.I754V TLE1_uc004alz.2_Missense_Mutation_p.I764V|TLE1_uc011lsr.1_Missense_Mutation_p.I739V NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 754 WD 6. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 CCAGTGACTATGTACTTATCA 0.413 34 95 --- --- --- --- PASS RASEF 158158 broad.mit.edu 37 9 85615852 85615852 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:85615852C>T uc004amo.1 - 10 1657 c.1396G>A c.(1396-1398)GGG>AGG p.G466R NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 466 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 TCCTGCACCCCGTGTGACCTC 0.502 33 76 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90501370 90501370 + Silent SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:90501370T>A uc004app.3 + 4 2003 c.1968T>A c.(1966-1968)CCT>CCA p.P656P C9orf79_uc004apo.1_Silent_p.P468P NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 656 integral to membrane ovary(3) 3 TGCTACAGCCTGATGGGGAAT 0.622 21 51 --- --- --- --- PASS NXNL2 158046 broad.mit.edu 37 9 91150497 91150497 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:91150497G>C uc011ltj.1 + 1 482 c.148G>C c.(148-150)GAC>CAC p.D50H NXNL2_uc004aqa.2_Missense_Mutation_p.D50H NM_001161625 NP_001155097 Q5VZ03 NXNL2_HUMAN nucleoredoxin-like 2 isoform 1 50 Thioredoxin. 0 GCTGCTCTGCGACTTCTATAC 0.697 2 6 --- --- --- --- PASS SECISBP2 79048 broad.mit.edu 37 9 91940430 91940430 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:91940430G>T uc004aqj.1 + 3 351 c.271G>T c.(271-273)GCC>TCC p.A91S SECISBP2_uc010mqn.1_Missense_Mutation_p.A91S|SECISBP2_uc004aqi.1_Intron|SECISBP2_uc011ltk.1_Missense_Mutation_p.A91S|SECISBP2_uc004aqk.1_Intron|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Missense_Mutation_p.A23S NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 91 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 TCATCCATATGCCTATTCTCC 0.398 106 235 --- --- --- --- PASS ZNF189 7743 broad.mit.edu 37 9 104170972 104170972 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:104170972A>G uc004bbh.1 + 3 1198 c.922A>G c.(922-924)AGA>GGA p.R308G ZNF189_uc004bbg.1_Missense_Mutation_p.R266G|ZNF189_uc004bbi.1_Missense_Mutation_p.R294G|ZNF189_uc011lvk.1_Missense_Mutation_p.R293G NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 308 C2H2-type 6. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) TGAGCATCAAAGAATTCACAC 0.398 76 182 --- --- --- --- PASS SLC44A1 23446 broad.mit.edu 37 9 108128711 108128711 + Splice_Site SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:108128711G>T uc004bcn.2 + 12 1715 c.1494_splice c.e12+1 p.Q498_splice SLC44A1_uc010mtk.1_Splice_Site_p.Q498_splice|SLC44A1_uc004bco.1_Splice_Site_p.Q290_splice NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) TTTAAATCAGGtaaaatattt 0.299 19 48 --- --- --- --- PASS SUSD1 64420 broad.mit.edu 37 9 114825260 114825260 + Missense_Mutation SNP G T T rs141503818 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:114825260G>T uc004bfu.2 - 13 1848 c.1807C>A c.(1807-1809)CGC>AGC p.R603S SUSD1_uc010mui.2_Missense_Mutation_p.R603S|SUSD1_uc010muj.2_Missense_Mutation_p.R603S NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 603 Extracellular (Potential). integral to membrane calcium ion binding 0 AGTCTGAGGCGTGGTAGAGGT 0.478 62 146 --- --- --- --- PASS BSPRY 54836 broad.mit.edu 37 9 116116564 116116564 + Silent SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:116116564T>A uc004bhg.3 + 2 294 c.246T>A c.(244-246)GCT>GCA p.A82A BSPRY_uc010muw.2_Silent_p.A82A NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 82 calcium ion transport cytoplasm|membrane zinc ion binding breast(1) 1 TACAGAGTGCTGCCATCACCA 0.393 4 95 --- --- --- --- PASS WDR38 401551 broad.mit.edu 37 9 127619793 127619793 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:127619793G>A uc004box.2 + 9 885 c.829G>A c.(829-831)GTG>ATG p.V277M WDR38_uc011lzn.1_Missense_Mutation_p.V267M|WDR38_uc011lzo.1_Missense_Mutation_p.V278M|WDR38_uc011lzp.1_Missense_Mutation_p.V229M NM_001045476 NP_001038941 Q5JTN6 WDR38_HUMAN WD repeat domain 38 277 WD 7. 0 AGTCCTGGATGTGGCCCACAC 0.572 36 84 --- --- --- --- PASS C9orf119 375757 broad.mit.edu 37 9 131038466 131038466 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:131038466A>T uc004bup.2 + 1 42 c.42A>T c.(40-42)AAA>AAT p.K14N GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.K14N NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN hypothetical protein LOC375757 14 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 GTCACAACAAAAGCTGCGCAC 0.632 31 72 --- --- --- --- PASS C9orf98 158067 broad.mit.edu 37 9 135601245 135601245 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:135601245C>A uc004cbu.1 - 13 1826 c.1270G>T c.(1270-1272)GAT>TAT p.D424Y C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.D220Y NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 424 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) TCTTCAGCATCCTTTGGGTTC 0.552 6 13 --- --- --- --- PASS SEC16A 9919 broad.mit.edu 37 9 139369100 139369100 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr9:139369100T>C uc004chx.2 - 3 3277 c.2968A>G c.(2968-2970)ACT>GCT p.T990A SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.T990A|SEC16A_uc010nbn.2_Missense_Mutation_p.T990A|SEC16A_uc010nbo.1_Missense_Mutation_p.T990A NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 812 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCTCCGTAAGTGTCTTCCTGA 0.502 20 22 --- --- --- --- PASS MCM10 55388 broad.mit.edu 37 10 13222487 13222487 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:13222487C>A uc001ima.2 + 7 914 c.813C>A c.(811-813)GGC>GGA p.G271G MCM10_uc001imb.2_Silent_p.G270G|MCM10_uc001imc.2_Silent_p.G270G NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 271 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 AAATGACCGGCCGAAAACTGA 0.413 38 45 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15686082 15686082 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:15686082C>A uc001ioc.1 - 13 1346 c.1346G>T c.(1345-1347)GGA>GTA p.G449V ITGA8_uc010qcb.1_Missense_Mutation_p.G434V NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 449 Extracellular (Potential).|FG-GAP 7. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AAAGCCAAATCCGGAAGGGAC 0.438 30 50 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16967596 16967596 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:16967596C>A uc001ioo.2 - 42 6501 c.6449G>T c.(6448-6450)GGG>GTG p.G2150V NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2150 CUB 15. 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) CAAGTAATCCCCCTGGTTGCA 0.423 18 39 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17277176 17277176 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:17277176C>A uc001iou.2 + 7 1430 c.1017C>A c.(1015-1017)TCC>TCA p.S339S VIM_uc001iov.1_Silent_p.S339S|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.S339S|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.S297S|VIM_uc001ipc.1_Silent_p.S339S NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 339 Rod.|Coil 2. S -> C (in Ref. 17; AAA61281). cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 AGAATGAGTCCCTGGAACGCC 0.458 16 37 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17277177 17277177 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:17277177C>A uc001iou.2 + 7 1431 c.1018C>A c.(1018-1020)CTG>ATG p.L340M VIM_uc001iov.1_Missense_Mutation_p.L340M|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.L340M|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.L298M|VIM_uc001ipc.1_Missense_Mutation_p.L340M NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 340 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GAATGAGTCCCTGGAACGCCA 0.458 16 35 --- --- --- --- PASS PIP4K2A 5305 broad.mit.edu 37 10 22830743 22830743 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:22830743C>A uc001irl.3 - 8 1274 c.1026G>T c.(1024-1026)AAG>AAT p.K342N PIP4K2A_uc010qcu.1_Missense_Mutation_p.K202N NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 342 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 TTTCATGGCACTTAATTCCAT 0.507 40 74 --- --- --- --- PASS ARMC3 219681 broad.mit.edu 37 10 23248058 23248058 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:23248058G>C uc001irm.3 + 5 435 c.352G>C c.(352-354)GCT>CCT p.A118P ARMC3_uc010qcv.1_Missense_Mutation_p.A118P|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_Missense_Mutation_p.A30P NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 118 ARM 3. binding 0 TGCCCAGCTCGCTCCAGAAGG 0.289 23 173 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37421233 37421233 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:37421233G>A uc001iza.1 + 4 507 c.408G>A c.(406-408)CTG>CTA p.L136L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 192 ANK 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AATTTTTGCTGATAAAAAATG 0.289 9 122 --- --- --- --- PASS TMEM72 643236 broad.mit.edu 37 10 45429098 45429098 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:45429098T>A uc001jbn.2 + 4 420 c.223T>A c.(223-225)TCC>ACC p.S75T uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_5'UTR NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 75 integral to membrane 0 TCAACCAGGGTCCCTGGCAGA 0.612 8 58 --- --- --- --- PASS DRGX 644168 broad.mit.edu 37 10 50574253 50574253 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:50574253G>A uc010qgq.1 - 6 715 c.715C>T c.(715-717)CCC>TCC p.P239S NM_001080520 NP_001073989 A6NNA5 DRGX_HUMAN dorsal root ganglia homeobox 239 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ACAGGGCCGGGGCTGCTGCTG 0.652 12 25 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582895 55582895 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:55582895C>A uc001jju.1 - 33 4986 c.4591G>T c.(4591-4593)GAA>TAA p.E1531* PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.E1528*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.E1491*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.E1462*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.E1538*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.E1533*|PCDH15_uc010qia.1_Nonsense_Mutation_p.E1511*|PCDH15_uc010qib.1_Nonsense_Mutation_p.E1508* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1531 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTTATGTTTTCCTTATAAAGG 0.368 HNSCC(58;0.16) 44 94 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582896 55582896 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:55582896C>A uc001jju.1 - 33 4985 c.4590G>T c.(4588-4590)AAG>AAT p.K1530N PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.K1527N|PCDH15_uc010qhw.1_Missense_Mutation_p.K1490N|PCDH15_uc010qhx.1_Missense_Mutation_p.K1461N|PCDH15_uc010qhy.1_Missense_Mutation_p.K1537N|PCDH15_uc010qhz.1_Missense_Mutation_p.K1532N|PCDH15_uc010qia.1_Missense_Mutation_p.K1510N|PCDH15_uc010qib.1_Missense_Mutation_p.K1507N NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1530 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTATGTTTTCCTTATAAAGGG 0.363 HNSCC(58;0.16) 42 97 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55782699 55782699 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:55782699G>T uc001jju.1 - 19 2874 c.2479C>A c.(2479-2481)CTT>ATT p.L827I PCDH15_uc010qhq.1_Missense_Mutation_p.L832I|PCDH15_uc010qhr.1_Missense_Mutation_p.L827I|PCDH15_uc010qhs.1_Missense_Mutation_p.L839I|PCDH15_uc010qht.1_Missense_Mutation_p.L834I|PCDH15_uc010qhu.1_Missense_Mutation_p.L827I|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L827I|PCDH15_uc010qhw.1_Missense_Mutation_p.L790I|PCDH15_uc010qhx.1_Missense_Mutation_p.L756I|PCDH15_uc010qhy.1_Missense_Mutation_p.L832I|PCDH15_uc010qhz.1_Missense_Mutation_p.L827I|PCDH15_uc010qia.1_Missense_Mutation_p.L805I|PCDH15_uc010qib.1_Missense_Mutation_p.L805I|PCDH15_uc001jjw.2_Missense_Mutation_p.L827I NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 827 Extracellular (Potential).|Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCTTCAACAAGGACAGTGTAT 0.413 HNSCC(58;0.16) 19 129 --- --- --- --- PASS FAM13C 220965 broad.mit.edu 37 10 61022354 61022354 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:61022354G>C uc001jkn.2 - 11 1210 c.1076C>G c.(1075-1077)CCT>CGT p.P359R FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.P276R|FAM13C_uc010qie.1_Missense_Mutation_p.P276R|FAM13C_uc010qif.1_Missense_Mutation_p.P381R|FAM13C_uc001jkp.2_Missense_Mutation_p.P276R NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 359 ovary(2) 2 CAGGTTTCTAGGTGGACCTTT 0.493 36 89 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61830138 61830138 + Nonsense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:61830138G>A uc001jky.2 - 37 10693 c.10501C>T c.(10501-10503)CAG>TAG p.Q3501* ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3501 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GTGAAGAACTGGGCCCCTGAC 0.448 46 86 --- --- --- --- PASS TMEM26 219623 broad.mit.edu 37 10 63195965 63195965 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:63195965G>A uc001jlo.2 - 2 602 c.233C>T c.(232-234)CCA>CTA p.P78L TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 78 Helical; (Potential). integral to membrane 0 Prostate(12;0.0112) CCATAATGATGGAACGATGCT 0.333 11 38 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 67726488 67726488 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:67726488C>A uc009xpn.1 - 17 2405 c.2282G>T c.(2281-2283)TGT>TTT p.C761F CTNNA3_uc001jmw.2_Missense_Mutation_p.C761F NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 761 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GTCCTGTTTACAAGATGGATC 0.383 33 121 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69881321 69881321 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:69881321C>T uc001jnm.3 + 3 311 c.126C>T c.(124-126)TGC>TGT p.C42C MYPN_uc001jnl.1_Silent_p.C42C|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Silent_p.C42C|MYPN_uc001jnp.1_Silent_p.C42C|MYPN_uc009xps.2_Silent_p.C42C|MYPN_uc009xpt.2_Silent_p.C42C|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 42 Interaction with CARP. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CCAACCCTTGCCATTTCGGCA 0.517 93 90 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69961674 69961674 + Silent SNP C T T rs139820597 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:69961674C>T uc001jnm.3 + 19 3767 c.3582C>T c.(3580-3582)CGC>CGT p.R1194R MYPN_uc001jnn.3_Silent_p.R919R|MYPN_uc001jno.3_Silent_p.R1194R|MYPN_uc009xpt.2_Silent_p.R1194R|MYPN_uc010qit.1_Silent_p.R900R|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1194 Interaction with ACTN.|Ig-like 5. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TGGAGTGCCGCGTGATAGGCA 0.547 68 287 --- --- --- --- PASS KIAA1279 26128 broad.mit.edu 37 10 70775952 70775952 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:70775952G>T uc001joy.2 + 7 1742 c.1646G>T c.(1645-1647)CGA>CTA p.R549L NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 549 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 GCTAAGTTTCGAGTTGCCCGT 0.413 58 213 --- --- --- --- PASS NEUROG3 50674 broad.mit.edu 37 10 71332486 71332486 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:71332486G>C uc001jpp.2 - 2 472 c.314C>G c.(313-315)GCC>GGC p.A105G NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 105 Helix-loop-helix motif. central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 ACCGCGCAGGGCGTCCAGTGC 0.617 21 66 --- --- --- --- PASS TNKS2 80351 broad.mit.edu 37 10 93572875 93572875 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:93572875G>A uc001khp.2 + 2 632 c.335G>A c.(334-336)CGA>CAA p.R112Q NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 112 ANK 2. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) CTCCTTTTGCGACATGGTGCA 0.428 4 95 --- --- --- --- PASS OPALIN 93377 broad.mit.edu 37 10 98109555 98109555 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:98109555G>T uc001kmj.2 - 4 540 c.101C>A c.(100-102)GCG>GAG p.A34E OPALIN_uc010qor.1_Missense_Mutation_p.A24E|OPALIN_uc001kmi.2_Missense_Mutation_p.A24E|OPALIN_uc001kmk.2_Missense_Mutation_p.A11E|OPALIN_uc010qos.1_RNA NM_033207 NP_149984 Q96PE5 OPALI_HUMAN transmembrane protein 10 isoform a 34 Helical; (Potential). Golgi apparatus|integral to membrane|plasma membrane 0 TGGTATGCCCGCCGCTAATCC 0.478 20 8 --- --- --- --- PASS PAX2 5076 broad.mit.edu 37 10 102568959 102568959 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:102568959C>A uc001krk.3 + 8 1504 c.954C>A c.(952-954)AAC>AAA p.N318K PAX2_uc001krl.3_Missense_Mutation_p.N295K|PAX2_uc001krm.3_Missense_Mutation_p.N318K|PAX2_uc001kro.3_Missense_Mutation_p.N295K|PAX2_uc001krn.3_Missense_Mutation_p.N295K|PAX2_uc010qps.1_Missense_Mutation_p.N294K|PAX2_uc001krp.1_Missense_Mutation_p.N291K NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 318 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) TGGGCAGCAACGTGTCAGGCA 0.607 33 61 --- --- --- --- PASS SMC3 9126 broad.mit.edu 37 10 112360876 112360876 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:112360876G>T uc001kze.2 + 23 2758 c.2632G>T c.(2632-2634)GCA>TCA p.A878S NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 878 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AGACACTATGGCACGATCAGA 0.353 65 88 --- --- --- --- PASS WDR11 55717 broad.mit.edu 37 10 122659586 122659586 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:122659586C>A uc010qtf.1 + 20 2799 c.2561C>A c.(2560-2562)GCC>GAC p.A854D WDR11_uc010qte.1_Missense_Mutation_p.A456D|WDR11_uc001lfd.1_Missense_Mutation_p.A372D|WDR11_uc009xzn.2_Missense_Mutation_p.A145D NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 854 integral to membrane 0 GCCTCTCTTGCCTTGAAAGCC 0.363 5 127 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128114630 128114630 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr10:128114630T>A uc001ljq.2 - 8 2112 c.1991A>T c.(1990-1992)AAG>ATG p.K664M C10orf90_uc001ljp.2_Missense_Mutation_p.K520M|C10orf90_uc010qum.1_Missense_Mutation_p.K761M|C10orf90_uc001ljo.2_RNA NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 664 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTCTTTTTTCTTTTTAACTTC 0.448 66 55 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1085941 1085941 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:1085941G>A uc001lsx.1 + 22 2808 c.2781G>A c.(2779-2781)ACG>ACA p.T927T NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 927 VWFD 3. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGCAGAGGACGGAGCTGAAGT 0.652 14 30 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1264913 1264913 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:1264913C>A uc009ycr.1 + 48 8843 c.8717C>A c.(8716-8718)CCA>CAA p.P2906Q MUC5B_uc001ltb.2_Missense_Mutation_p.P2271Q NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2268 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCCCTTCTCCAGGGACGACC 0.682 32 140 --- --- --- --- PASS HBE1 3046 broad.mit.edu 37 11 5289722 5289722 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:5289722C>A uc001mal.1 - 3 674 c.421G>T c.(421-423)GCC>TCC p.A141S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.A141S NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 141 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCCAGGGCAATGGCGACA 0.557 66 138 --- --- --- --- PASS OR51I2 390064 broad.mit.edu 37 11 5475566 5475566 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:5475566T>A uc010qzf.1 + 1 848 c.848T>A c.(847-849)GTG>GAG p.V283E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACCTATTTGTGCCTCCTGTG 0.463 67 162 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6648620 6648620 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:6648620C>G uc001mem.1 - 14 6060 c.5650G>C c.(5650-5652)GCT>CCT p.A1884P NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1884 Cadherin 18.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTAGCTCCAGCATCAGGGTCA 0.627 8 13 --- --- --- --- PASS OR10A2 341276 broad.mit.edu 37 11 6891618 6891618 + Silent SNP C A A rs61737577 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:6891618C>A uc001meu.1 + 1 633 c.633C>A c.(631-633)GCC>GCA p.A211A NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 211 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TTGCTGCTGCCATCCTCAAGA 0.448 70 198 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7064725 7064725 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:7064725A>G uc001mfb.1 + 4 1791 c.1468A>G c.(1468-1470)ATG>GTG p.M490V NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 490 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTTTGCAGCTATGTTCTATAT 0.408 38 102 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17427074 17427074 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:17427074G>T uc001mnc.2 - 27 3492 c.3366C>A c.(3364-3366)AAC>AAA p.N1122K NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1122 Cytoplasmic (By similarity).|ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) ATGAAAATCTGTTCAGGATGC 0.512 60 131 --- --- --- --- PASS SPTY2D1 144108 broad.mit.edu 37 11 18636920 18636920 + Missense_Mutation SNP G A A rs138155181 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:18636920G>A uc001moy.2 - 3 1117 c.901C>T c.(901-903)CGT>TGT p.R301C SPTY2D1_uc010rdi.1_Missense_Mutation_p.R301C NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 301 Ser-rich. breast(1) 1 TGGCCCTCACGAAGTGAGGGT 0.507 9 163 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26663521 26663521 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:26663521T>C uc001mqt.3 + 22 2365 c.2220T>C c.(2218-2220)GAT>GAC p.D740D ANO3_uc010rdr.1_Silent_p.D724D|ANO3_uc010rds.1_Silent_p.D579D|ANO3_uc010rdt.1_Silent_p.D594D NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 740 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GGGAAAATGATTGGAATCTGC 0.433 43 113 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30032759 30032759 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:30032759G>T uc001msk.2 - 2 2619 c.1467C>A c.(1465-1467)GTC>GTA p.V489V NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 489 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAAAGAGGATGACCCCAATGA 0.527 22 71 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40137001 40137001 + Nonsense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:40137001A>T uc001mxa.1 - 2 2806 c.842T>A c.(841-843)TTA>TAA p.L281* LRRC4C_uc001mxc.1_Nonsense_Mutation_p.L277*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.L277*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.L277* NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 281 LRR 9. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) ATGAGGCAGTAATGTTAGATT 0.453 58 140 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55340461 55340461 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:55340461G>T uc010rih.1 + 1 858 c.858G>T c.(856-858)ACG>ACT p.T286T NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TGATTTACACGCTGAAGAATA 0.363 14 67 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55872536 55872536 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:55872536T>C uc010riy.1 + 1 18 c.18T>C c.(16-18)AAT>AAC p.N6N NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) GTAGAAGGAATAACACAAATG 0.343 HNSCC(53;0.14) 6 232 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904850 55904850 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:55904850C>A uc010riz.1 - 1 345 c.345G>T c.(343-345)CTG>CTT p.L115L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CCATCACAGCCAGCATCATTA 0.483 56 119 --- --- --- --- PASS OR8J1 219477 broad.mit.edu 37 11 56127763 56127763 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:56127763T>A uc010rjh.1 + 1 41 c.41T>A c.(40-42)CTT>CAT p.L14H NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GAGTTTATTCTTACAGGTGTC 0.458 29 76 --- --- --- --- PASS OR5M9 390162 broad.mit.edu 37 11 56230176 56230176 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:56230176C>G uc010rjj.1 - 1 702 c.702G>C c.(700-702)AAG>AAC p.K234N NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) TGGAGAACGCCTTCCTCCTGC 0.522 12 16 --- --- --- --- PASS OR9G4 283189 broad.mit.edu 37 11 56510333 56510333 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:56510333C>A uc010rjo.1 - 1 955 c.955G>T c.(955-957)GCA>TCA p.A319S NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 319 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GTCTGTGTTGCTTTCCTGAAG 0.393 46 130 --- --- --- --- PASS P2RX3 5024 broad.mit.edu 37 11 57106060 57106060 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:57106060C>A uc001nju.2 + 1 112 c.36C>A c.(34-36)ACC>ACA p.T12T SSRP1_uc001njt.2_5'Flank NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 12 Cytoplasmic (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 CCTATGAGACCACCAAGTCGG 0.542 96 226 --- --- --- --- PASS OR5B17 219965 broad.mit.edu 37 11 58126131 58126131 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:58126131C>A uc010rke.1 - 1 412 c.412G>T c.(412-414)GTG>TTG p.V138L NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 138 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAAGCACACACACGTGTTGTC 0.453 17 56 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58190356 58190356 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:58190356G>T uc010rkg.1 - 1 379 c.379C>A c.(379-381)CCC>ACC p.P127T NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) TAGTGTAGGGGTTTGCACACT 0.522 14 53 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58206901 58206901 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:58206901G>T uc010rkh.1 - 1 724 c.724C>A c.(724-726)CAC>AAC p.H242N NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCAGTAAGGTGGGAAGCACAA 0.423 26 65 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60183926 60183926 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:60183926G>T uc001npj.2 + 5 2050 c.1485G>T c.(1483-1485)TTG>TTT p.L495F MS4A14_uc001npi.2_Missense_Mutation_p.L383F|MS4A14_uc001npn.2_Missense_Mutation_p.L233F|MS4A14_uc001npk.2_Missense_Mutation_p.L478F|MS4A14_uc001npl.2_Missense_Mutation_p.L233F|MS4A14_uc001npm.2_Missense_Mutation_p.L233F NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 495 Gln-rich. integral to membrane receptor activity breast(1) 1 CCAAAGCCTTGCAATACTTAA 0.433 43 95 --- --- --- --- PASS DDB1 1642 broad.mit.edu 37 11 61071505 61071505 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:61071505C>T uc001nrc.3 - 22 2890 c.2664G>A c.(2662-2664)GTG>GTA p.V888V DDB1_uc010rle.1_Silent_p.V199V|DDB1_uc010rlf.1_Silent_p.V888V NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 888 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 CATAGAGCCGCACCTGGGAAG 0.547 NER 27 72 --- --- --- --- PASS SPDYC 387778 broad.mit.edu 37 11 64939436 64939436 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:64939436C>T uc010rnz.1 + 3 222 c.222C>T c.(220-222)TTC>TTT p.F74F NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 74 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding 0 TCCAGGAATTCCTCTCCAAAG 0.527 36 74 --- --- --- --- PASS SPDYC 387778 broad.mit.edu 37 11 64940209 64940209 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:64940209C>G uc010rnz.1 + 6 571 c.571C>G c.(571-573)CAT>GAT p.H191D NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 191 cell cycle nucleus protein kinase binding 0 GCGCCCCCACCATGGTGGGGT 0.662 24 57 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65267822 65267822 + RNA SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:65267822A>C uc010roh.1 + 1 c.2590A>C uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 TTGAGTTAAGATTATTTTTTA 0.368 19 41 --- --- --- --- PASS MAP3K11 4296 broad.mit.edu 37 11 65375242 65375242 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:65375242A>G uc001oew.2 - 4 1608 c.1115T>C c.(1114-1116)ATC>ACC p.I372T MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.I115T|MAP3K11_uc001oex.1_Intron NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 372 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 CTGCTGCAGGATGGAGGCGAA 0.652 30 48 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68216404 68216404 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:68216404C>A uc001ont.2 + 23 4789 c.4714C>A c.(4714-4716)CCC>ACC p.P1572T LRP5_uc009ysg.2_Missense_Mutation_p.P982T NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1572 Pro-rich.|Cytoplasmic (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 GGACTCAGACCCCTATCCACC 0.657 22 33 --- --- --- --- PASS MRGPRF 116535 broad.mit.edu 37 11 68773487 68773487 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:68773487C>A uc001ooo.3 - 3 658 c.291G>T c.(289-291)GCG>GCT p.A97A MRGPRF_uc001oop.3_Silent_p.A97A NM_001098515 NP_001091985 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 97 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGGAGAACACCGCCTTGCTGA 0.607 4 5 --- --- --- --- PASS DHCR7 1717 broad.mit.edu 37 11 71146795 71146795 + Silent SNP G T T rs80338860 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:71146795G>T uc001oqk.2 - 9 1304 c.1054C>A c.(1054-1056)CGG>AGG p.R352R DHCR7_uc001oql.2_Silent_p.R352R NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 352 R -> W (in SLOS).|R -> Q (in SLOS). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) TTGGCCACCCGGAAGATGTAG 0.667 Smith-Lemli-Opitz_syndrome 27 38 --- --- --- --- PASS KRTAP5-11 440051 broad.mit.edu 37 11 71293713 71293713 + Nonsense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:71293713A>T uc001oqu.2 - 1 209 c.171T>A c.(169-171)TGT>TGA p.C57* NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 57 6 X 4 AA repeats of C-C-X-P. keratin filament 0 CACAGGAGCCACAGCTGGAGC 0.627 61 167 --- --- --- --- PASS ARHGEF17 9828 broad.mit.edu 37 11 73022174 73022174 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:73022174C>T uc001otu.2 + 1 2512 c.2491C>T c.(2491-2493)CCC>TCC p.P831S NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 831 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 CCTGAGTGACCCCAGCCGCCG 0.642 21 72 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76869394 76869394 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:76869394G>T uc001oyb.2 + 9 1193 c.921G>T c.(919-921)GTG>GTT p.V307V MYO7A_uc010rsl.1_Silent_p.V307V|MYO7A_uc010rsm.1_Silent_p.V296V|MYO7A_uc001oyc.2_Silent_p.V307V NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 307 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CCATGAAGGTGCTCATGTTCA 0.617 16 34 --- --- --- --- PASS GAB2 9846 broad.mit.edu 37 11 77937952 77937952 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:77937952G>T uc001ozh.2 - 4 766 c.766C>A c.(766-768)CGG>AGG p.R256R GAB2_uc001ozg.2_Silent_p.R218R NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 256 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GTATTGTGCCGGCTCGGCTTG 0.562 38 59 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88386499 88386499 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:88386499C>T uc001pcq.2 - 3 1184 c.984G>A c.(982-984)AAG>AAA p.K328K GRM5_uc009yvm.2_Silent_p.K328K NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 328 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GAGATTGGAGCTTGATTGTGA 0.463 17 77 --- --- --- --- PASS TYR 7299 broad.mit.edu 37 11 88911881 88911881 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:88911881G>A uc001pcs.2 + 1 842 c.760G>A c.(760-762)GGT>AGT p.G254S NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 254 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GTACATGGGAGGTCAGCACCC 0.458 Oculocutaneous_Albinism 18 120 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92532543 92532543 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:92532543G>C uc001pdj.3 + 9 6381 c.6364G>C c.(6364-6366)GTC>CTC p.V2122L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2122 Cadherin 19.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTGACCTATGTCCTGCAGGA 0.423 TCGA Ovarian(4;0.039) 3 27 --- --- --- --- PASS ANKRD49 54851 broad.mit.edu 37 11 94231407 94231407 + Silent SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:94231407G>C uc001pew.2 + 3 568 c.429G>C c.(427-429)ACG>ACC p.T143T ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA NM_017704 NP_060174 Q8WVL7 ANR49_HUMAN fetal globin inducing factor 143 ANK 3. positive regulation of transcription, DNA-dependent central_nervous_system(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATGGCTGGACGCCCCTGCACA 0.507 8 86 --- --- --- --- PASS ANKRD49 54851 broad.mit.edu 37 11 94231411 94231411 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:94231411C>T uc001pew.2 + 3 572 c.433C>T c.(433-435)CTG>TTG p.L145L ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA NM_017704 NP_060174 Q8WVL7 ANR49_HUMAN fetal globin inducing factor 145 ANK 3. positive regulation of transcription, DNA-dependent central_nervous_system(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTGGACGCCCCTGCACAGTGC 0.498 7 86 --- --- --- --- PASS TMEM123 114908 broad.mit.edu 37 11 102272392 102272392 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:102272392T>C uc001pha.2 - 4 901 c.480A>G c.(478-480)AAA>AAG p.K160K TMEM123_uc009yxc.2_Silent_p.K141K NM_052932 NP_443164 Q8N131 PORIM_HUMAN transmembrane protein 123 precursor 160 Extracellular (Potential). oncosis external side of plasma membrane|integral to membrane receptor activity breast(2) 2 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) ATTTTGATCCTTTCTTTGCTT 0.308 18 105 --- --- --- --- PASS DRD2 1813 broad.mit.edu 37 11 113283559 113283559 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:113283559C>T uc001pnz.2 - 6 1178 c.857G>A c.(856-858)AGC>AAC p.S286N DRD2_uc010rwv.1_Missense_Mutation_p.S285N|DRD2_uc001poa.3_Missense_Mutation_p.S286N|DRD2_uc001pob.3_Missense_Mutation_p.S257N NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 286 Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) TGGGCTGGTGCTGGAGAGCAT 0.667 19 27 --- --- --- --- PASS FAM55A 120400 broad.mit.edu 37 11 114401156 114401156 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:114401156G>T uc001ppa.2 - 3 565 c.148C>A c.(148-150)CTC>ATC p.L50I FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.L192I NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 192 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) GCCCTCCAGAGAGCCGACGCC 0.507 40 60 --- --- --- --- PASS OR6M1 390261 broad.mit.edu 37 11 123676935 123676935 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:123676935G>T uc010rzz.1 - 1 123 c.123C>A c.(121-123)ATC>ATA p.I41I NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AGATGATGGTGATGTTTCCTG 0.423 22 109 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810615 123810615 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:123810615C>A uc001pzk.1 + 1 292 c.292C>A c.(292-294)CTG>ATG p.L98M NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGGTGGATGCCTGACTCAACT 0.493 16 97 --- --- --- --- PASS OR6T1 219874 broad.mit.edu 37 11 123813951 123813951 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:123813951C>A uc010sab.1 - 1 595 c.595G>T c.(595-597)GCT>TCT p.A199S NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AGCATGAAAGCCACCAGTTTC 0.547 32 61 --- --- --- --- PASS OR6T1 219874 broad.mit.edu 37 11 123813952 123813952 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:123813952C>A uc010sab.1 - 1 594 c.594G>T c.(592-594)GTG>GTT p.V198V NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GCATGAAAGCCACCAGTTTCA 0.547 32 60 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123894397 123894397 + Silent SNP G T T rs139365025 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:123894397G>T uc010sad.1 + 1 678 c.678G>T c.(676-678)CGG>CGT p.R226R NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCATCCTGCGGATCCACACCT 0.522 27 62 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440904 124440904 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:124440904A>G uc010san.1 + 1 940 c.940A>G c.(940-942)AAG>GAG p.K314E NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 314 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) CAAGGAAGTAAAGGCTGCCGT 0.428 23 54 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124748011 124748011 + Nonsense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:124748011G>A uc001qbc.2 + 21 3357 c.3165G>A c.(3163-3165)TGG>TGA p.W1055* ROBO3_uc010saq.1_3'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Nonsense_Mutation_p.W104*|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1055 Cytoplasmic (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CTCCAGAGTGGAGCCAGGGGG 0.617 6 15 --- --- --- --- PASS CCDC15 80071 broad.mit.edu 37 11 124908348 124908348 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:124908348A>T uc001qbm.3 + 14 2692 c.2433A>T c.(2431-2433)CAA>CAT p.Q811H NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 811 Potential. centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAGAGAGCAAGAATGTTATG 0.318 3 13 --- --- --- --- PASS ACRV1 56 broad.mit.edu 37 11 125548074 125548074 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:125548074C>G uc001qcs.2 - 2 438 c.171G>C c.(169-171)GAG>GAC p.E57D ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Intron|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Intron|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Intron|ACRV1_uc001qcr.2_Missense_Mutation_p.E57D NM_001612 NP_001603 P26436 ASPX_HUMAN acrosomal vesicle protein 1 isoform a precursor 57 multicellular organismal development acrosomal vesicle 0 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) CTGAAGAAGTCTCATATAAAG 0.458 29 43 --- --- --- --- PASS PRDM10 56980 broad.mit.edu 37 11 129802064 129802064 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:129802064C>A uc001qfm.2 - 10 1452 c.1220G>T c.(1219-1221)CGT>CTT p.R407L PRDM10_uc001qfj.2_Missense_Mutation_p.R321L|PRDM10_uc001qfk.2_Missense_Mutation_p.R321L|PRDM10_uc001qfl.2_Missense_Mutation_p.R321L|PRDM10_uc010sbx.1_Missense_Mutation_p.R321L|PRDM10_uc001qfn.2_Missense_Mutation_p.R407L|PRDM10_uc009zct.1_Missense_Mutation_p.R439L NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TTTTGGAGGACGCCCCGGCCG 0.572 3 77 --- --- --- --- PASS FBXL14 144699 broad.mit.edu 37 12 1702723 1702723 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:1702723G>T uc001qjh.2 - 1 609 c.510C>A c.(508-510)CGC>CGA p.R170R WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_Silent_p.R82R NM_152441 NP_689654 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 170 LRR 2. cytoplasm ovary(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) GGCTCTTGAGGCGCTGCAGAC 0.667 10 24 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 1992086 1992086 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:1992086C>G uc001qjp.2 - 13 1663 c.1432G>C c.(1432-1434)GTC>CTC p.V478L CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.V366L NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 478 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TGGTTGATGACCATGGGGCGG 0.607 14 30 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2788654 2788654 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:2788654C>A uc009zdu.1 + 44 5593 c.5280C>A c.(5278-5280)AGC>AGA p.S1760R CACNA1C_uc009zdv.1_Missense_Mutation_p.S1709R|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkc.2_Missense_Mutation_p.S1731R|CACNA1C_uc001qke.2_Missense_Mutation_p.S1701R|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1720R|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1731R|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1718R|CACNA1C_uc009zdw.1_Missense_Mutation_p.S1753R|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1720R|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1760R|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qko.2_Missense_Mutation_p.S1732R|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1729R|CACNA1C_uc001qku.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1740R|CACNA1C_uc001qks.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1731R|CACNA1C_uc001qki.1_Missense_Mutation_p.S1448R|CACNA1C_uc001qkj.1_Missense_Mutation_p.S1448R|CACNA1C_uc001qkk.1_Missense_Mutation_p.S1448R|CACNA1C_uc001qkm.1_Missense_Mutation_p.S1437R|CACNA1C_uc010sea.1_Missense_Mutation_p.S403R|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.S30R NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1760 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACTACCAAAGCGACGGCCGGA 0.657 7 10 --- --- --- --- PASS FGF23 8074 broad.mit.edu 37 12 4479738 4479738 + Missense_Mutation SNP C T T rs104894347 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:4479738C>T uc001qmq.1 - 3 673 c.527G>A c.(526-528)CGG>CAG p.R176Q NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 176 R -> Q (in ADHR; partially resistant to cleavage by furin). cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CCGGGTGTGCCGCCGTGGTAT 0.672 12 79 --- --- --- --- PASS PEX5 5830 broad.mit.edu 37 12 7355220 7355220 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:7355220G>A uc009zfu.1 + 10 1346 c.766G>A c.(766-768)GCC>ACC p.A256T PEX5_uc001qsw.2_Missense_Mutation_p.A256T|PEX5_uc010sgc.1_Missense_Mutation_p.A271T|PEX5_uc001qsu.2_Missense_Mutation_p.A219T|PEX5_uc010sgd.1_Missense_Mutation_p.A277T|PEX5_uc001qsv.2_Missense_Mutation_p.A256T NM_001131026 NP_001124498 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 isoform d 256 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding ovary(1) 1 TACATCAGATGCCTGGGTTGA 0.478 26 46 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7548873 7548873 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:7548873T>C uc001qsy.2 - 8 1894 c.1868A>G c.(1867-1869)CAG>CGG p.Q623R CD163L1_uc010sge.1_Missense_Mutation_p.Q633R NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 623 SRCR 6.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 GCAGTCCAGCTGGCTACACAC 0.517 17 54 --- --- --- --- PASS GDF3 9573 broad.mit.edu 37 12 7843099 7843099 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:7843099C>A uc001qte.2 - 2 506 c.470G>T c.(469-471)GGC>GTC p.G157V NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 157 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 GGTGGTCTGGCCCCACACATG 0.552 34 84 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13716820 13716820 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:13716820C>A uc001rbt.2 - 13 3531 c.3352G>T c.(3352-3354)GAC>TAC p.D1118Y NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1118 Cytoplasmic (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) CGCTTGTGGTCAGGGGAGCGG 0.607 30 67 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13906657 13906657 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:13906657C>G uc001rbt.2 - 3 783 c.604G>C c.(604-606)GTC>CTC p.V202L NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 202 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) AGTAGGAGGACCTCCTCTAGC 0.473 54 99 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21229443 21229443 + Nonsense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:21229443G>A uc010sil.1 + 15 2053 c.1988G>A c.(1987-1989)TGG>TAG p.W663* LST-3TM12_uc010sim.1_Nonsense_Mutation_p.W602*|LST-3TM12_uc010sin.1_Nonsense_Mutation_p.W555* Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TGTATGAAGTGGTCCACCAAC 0.348 117 250 --- --- --- --- PASS SLCO1A2 6579 broad.mit.edu 37 12 21450348 21450348 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:21450348G>T uc001rer.2 - 8 1316 c.1065C>A c.(1063-1065)ATC>ATA p.I355I SLCO1A2_uc001res.2_Silent_p.I355I|SLCO1A2_uc010siq.1_Silent_p.I223I|SLCO1A2_uc010sio.1_Silent_p.I223I|SLCO1A2_uc010sip.1_Silent_p.I223I|SLCO1A2_uc001ret.2_Silent_p.I353I|SLCO1A2_uc001reu.2_Silent_p.I335I NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 355 Helical; Name=8; (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 CCATTAGAAAGATTGCATCTG 0.403 41 86 --- --- --- --- PASS SYT10 341359 broad.mit.edu 37 12 33538175 33538175 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:33538175C>A uc001rll.1 - 4 1426 c.1129G>T c.(1129-1131)GCT>TCT p.A377S SYT10_uc009zju.1_Missense_Mutation_p.A187S NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 377 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ATACGCCCAGCCGTCGGTAGG 0.448 22 72 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41966841 41966841 + Missense_Mutation SNP C G G rs139658899 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:41966841C>G uc010skn.1 + 10 1731 c.1663C>G c.(1663-1665)CGT>GGT p.R555G PDZRN4_uc001rmq.3_Missense_Mutation_p.R496G|PDZRN4_uc009zjz.2_Missense_Mutation_p.R494G|PDZRN4_uc001rmr.2_Missense_Mutation_p.R381G NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 754 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CACTGTAGACCGTTCCCCTGA 0.507 56 115 --- --- --- --- PASS YAF2 10138 broad.mit.edu 37 12 42554479 42554479 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:42554479C>A uc001rmv.2 - 4 523 c.455G>T c.(454-456)GGC>GTC p.G152V YAF2_uc001rmw.2_Missense_Mutation_p.G176V|YAF2_uc010sko.1_Missense_Mutation_p.G143V|YAF2_uc010skp.1_Missense_Mutation_p.G110V NM_005748 NP_005739 Q8IY57 YAF2_HUMAN YY1 associated factor 2 152 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding 0 all_cancers(12;0.000425) Lung NSC(34;0.0402)|all_lung(34;0.057) GBM - Glioblastoma multiforme(48;0.0514) AGAGCTAGAGCCGCTTTGACT 0.428 19 55 --- --- --- --- PASS PLEKHA9 51054 broad.mit.edu 37 12 45567135 45567135 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:45567135C>A uc001rom.1 - 3 1551 c.1014G>T c.(1012-1014)GCG>GCT p.A338A PLEKHA9_uc009zke.2_Silent_p.A338A NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) TTAAAGCTAACGCAAAAACCC 0.463 41 106 --- --- --- --- PASS ANO6 196527 broad.mit.edu 37 12 45771835 45771835 + Splice_Site SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:45771835G>C uc001roo.2 + 10 1440 c.1105_splice c.e10-1 p.K369_splice ANO6_uc010sld.1_Splice_Site_p.K369_splice|ANO6_uc010sle.1_Splice_Site_p.K369_splice|ANO6_uc010slf.1_Splice_Site_p.K390_splice|ANO6_uc010slg.1_Splice_Site_p.K351_splice NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 ATATTTTCCAGAAATTGTGCA 0.313 59 141 --- --- --- --- PASS KCNH3 23416 broad.mit.edu 37 12 49937247 49937247 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:49937247G>T uc001ruh.1 + 5 1029 c.769G>T c.(769-771)GCC>TCC p.A257S KCNH3_uc010smj.1_Missense_Mutation_p.A197S NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 257 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 GCCCAGTGCCGCCCGCGGCCC 0.667 22 39 --- --- --- --- PASS GALNT6 11226 broad.mit.edu 37 12 51748185 51748185 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:51748185T>G uc001ryk.2 - 11 2072 c.1847A>C c.(1846-1848)CAT>CCT p.H616P GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.H616P|GALNT6_uc001ryj.1_Missense_Mutation_p.H181P NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 616 Ricin B-type lectin.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 CCACAACTGATGGGGGTCACT 0.542 16 43 --- --- --- --- PASS KRT85 3891 broad.mit.edu 37 12 52761150 52761150 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:52761150C>T uc001sag.2 - 1 160 c.40G>A c.(40-42)GTC>ATC p.V14I NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 14 Head. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TTCCTGGTGACCCCGCATCCT 0.652 11 24 --- --- --- --- PASS KRT72 140807 broad.mit.edu 37 12 52981525 52981525 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:52981525C>A uc001sar.2 - 7 1286 c.1200G>T c.(1198-1200)AAG>AAT p.K400N KRT72_uc001saq.2_Missense_Mutation_p.K400N|KRT72_uc010sns.1_Missense_Mutation_p.K358N|KRT72_uc010snt.1_Missense_Mutation_p.K212N NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 400 Coil 2.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) CCAGCTCCTCCTTGGCCTGGT 0.662 4 102 --- --- --- --- PASS NEUROD4 58158 broad.mit.edu 37 12 55420434 55420434 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:55420434G>T uc001sgp.3 + 2 589 c.211G>T c.(211-213)GGT>TGT p.G71C NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 71 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 TAAGAGAAGGGGTCCCAAGAA 0.433 28 47 --- --- --- --- PASS PAN2 9924 broad.mit.edu 37 12 56716415 56716415 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:56716415T>A uc001skx.2 - 18 3006 c.2633A>T c.(2632-2634)TAC>TTC p.Y878F PAN2_uc001skw.2_Missense_Mutation_p.Y26F|PAN2_uc001skz.2_Missense_Mutation_p.Y877F|PAN2_uc001sky.2_Missense_Mutation_p.Y874F NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 878 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 GCGCTGGTGGTAGGTCTCTCC 0.557 28 72 --- --- --- --- PASS SRGAP1 57522 broad.mit.edu 37 12 64491063 64491063 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:64491063A>G uc010ssp.1 + 15 1777 c.1721A>G c.(1720-1722)AAC>AGC p.N574S SRGAP1_uc001srv.2_Missense_Mutation_p.N511S NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 574 Rho-GAP. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CATGATATTAACTCAGTTGCT 0.368 62 88 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70925933 70925933 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:70925933G>T uc001swb.3 - 30 5762 c.5732C>A c.(5731-5733)ACT>AAT p.T1911N uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.T1821N|PTPRB_uc010stp.1_Missense_Mutation_p.T1821N|PTPRB_uc001swc.3_Missense_Mutation_p.T2129N|PTPRB_uc001swa.3_Missense_Mutation_p.T2041N NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1911 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AAAGGTTCCAGTCCTACCCAC 0.443 32 57 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78569142 78569142 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:78569142A>T uc001syp.2 + 25 5211 c.5038A>T c.(5038-5040)ACA>TCA p.T1680S NAV3_uc001syo.2_Missense_Mutation_p.T1680S|NAV3_uc010sub.1_Missense_Mutation_p.T1166S|NAV3_uc009zsf.2_Missense_Mutation_p.T511S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1680 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAACAGTGCCACAAGCCATTC 0.423 HNSCC(70;0.22) 29 72 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85459184 85459184 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:85459184G>A uc001tac.2 + 9 2647 c.2536G>A c.(2536-2538)GAT>AAT p.D846N LRRIQ1_uc001tab.1_Missense_Mutation_p.D846N NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 846 LRR 2. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TAAGTACATTGATGCACAGGT 0.338 48 113 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85515541 85515541 + Silent SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:85515541A>T uc001tac.2 + 16 3555 c.3444A>T c.(3442-3444)TCA>TCT p.S1148S LRRIQ1_uc001tab.1_Silent_p.S1148S NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1148 LRRCT. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ACTCTAATTCAGAAAGCCGCA 0.368 35 89 --- --- --- --- PASS ALX1 8092 broad.mit.edu 37 12 85674243 85674243 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:85674243C>A uc001tae.3 + 1 208 c.204C>A c.(202-204)ACC>ACA p.T68T NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 68 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) TGGAGAGGACCTCGCCCTGTC 0.637 24 32 --- --- --- --- PASS DUSP6 1848 broad.mit.edu 37 12 89744393 89744393 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:89744393C>G uc001tay.2 - 2 1290 c.810G>C c.(808-810)CAG>CAC p.Q270H DUSP6_uc001taz.2_Intron NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a 270 Tyrosine-protein phosphatase. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 CAGGGAAAAACTGGGACAGGT 0.428 3 141 --- --- --- --- PASS APAF1 317 broad.mit.edu 37 12 99042501 99042501 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:99042501G>T uc001tfz.2 + 3 813 c.236G>T c.(235-237)GGA>GTA p.G79V APAF1_uc001tfy.2_Missense_Mutation_p.G79V|APAF1_uc001tga.2_Missense_Mutation_p.G79V|APAF1_uc001tgb.2_Missense_Mutation_p.G79V|APAF1_uc001tgc.2_Missense_Mutation_p.G79V NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 79 CARD. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) CTACATGAAGGATATAAAGAT 0.373 52 166 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 100377981 100377981 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:100377981C>A uc001tge.1 - 1 452 c.35G>T c.(34-36)CGC>CTC p.R12L ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.R12L NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 12 ANK 1. 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) ATTTCCAGTGCGAGCAGCTTC 0.632 18 40 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100774486 100774486 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:100774486G>T uc010svi.1 + 2 422 c.109G>T c.(109-111)GAT>TAT p.D37Y SLC17A8_uc009ztx.2_Missense_Mutation_p.D37Y NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 37 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TAGAAAAATCGATGGGACAAC 0.448 56 168 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100797919 100797919 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:100797919C>T uc010svi.1 + 9 1470 c.1157C>T c.(1156-1158)ACT>ATT p.T386I SLC17A8_uc009ztx.2_Missense_Mutation_p.T336I NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 386 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TTAACCACAACTGCTGTCAGA 0.403 20 66 --- --- --- --- PASS HCFC2 29915 broad.mit.edu 37 12 104476606 104476606 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:104476606G>T uc001tkj.3 + 7 1093 c.990G>T c.(988-990)TGG>TGT p.W330C HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 330 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 TGTATTTTTGGAGTGGAAGAG 0.393 51 107 --- --- --- --- PASS ASCL4 121549 broad.mit.edu 37 12 108169133 108169133 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:108169133C>A uc001tmr.2 + 1 972 c.141C>A c.(139-141)TGC>TGA p.C47* NM_203436 NP_982260 Q6XD76 ASCL4_HUMAN achaete-scute complex-like 4 46 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1) 1 ACGCCGCGTGCTGGGAGTGGG 0.746 10 19 --- --- --- --- PASS RASAL1 8437 broad.mit.edu 37 12 113546027 113546027 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:113546027C>G uc001tum.1 - 15 1668 c.1375G>C c.(1375-1377)GAT>CAT p.D459H RASAL1_uc010syp.1_Missense_Mutation_p.D459H|RASAL1_uc001tul.2_Missense_Mutation_p.D459H|RASAL1_uc001tun.1_Missense_Mutation_p.D460H|RASAL1_uc010syq.1_Missense_Mutation_p.D459H|RASAL1_uc001tuo.3_Missense_Mutation_p.D459H|RASAL1_uc010syr.1_Missense_Mutation_p.D459H NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 459 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 TACTTCACATCCTGCTGGGAG 0.532 3 20 --- --- --- --- PASS RASAL1 8437 broad.mit.edu 37 12 113557020 113557020 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:113557020C>A uc001tum.1 - 8 848 c.555G>T c.(553-555)GAG>GAT p.E185D RASAL1_uc010syp.1_Missense_Mutation_p.E185D|RASAL1_uc001tul.2_Missense_Mutation_p.E185D|RASAL1_uc001tun.1_Missense_Mutation_p.E185D|RASAL1_uc010syq.1_Missense_Mutation_p.E185D|RASAL1_uc001tuo.3_Missense_Mutation_p.E185D|RASAL1_uc010syr.1_Missense_Mutation_p.E185D NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 185 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 TCTCCCGCAGCTCCAGCACTT 0.612 24 65 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129563197 129563197 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:129563197G>A uc009zyl.1 - 8 2325 c.1997C>T c.(1996-1998)ACA>ATA p.T666I TMEM132D_uc001uia.2_Missense_Mutation_p.T204I NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 666 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCCGAGGTCTGTGATGGTCAC 0.572 33 90 --- --- --- --- PASS MMP17 4326 broad.mit.edu 37 12 132335568 132335568 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr12:132335568C>A uc001ujc.1 + 10 1660 c.1561C>A c.(1561-1563)CTG>ATG p.L521M MMP17_uc001ujd.1_Missense_Mutation_p.L437M NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 521 Hemopexin-like 4. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CCGGGACTGGCTGGTGTGTGG 0.672 3 15 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19751540 19751540 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:19751540G>T uc009zzj.2 - 4 632 c.583C>A c.(583-585)CTG>ATG p.L195M NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 195 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GAATGTTCCAGGGTCGTGTGG 0.557 76 111 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23929996 23929996 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:23929996C>A uc001uon.2 - 8 1344 c.755G>T c.(754-756)GGC>GTC p.G252V SACS_uc001uoo.2_Missense_Mutation_p.G105V|SACS_uc001uop.1_Missense_Mutation_p.G39V|SACS_uc001uoq.1_Missense_Mutation_p.G105V NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 252 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCCAAAAATGCCAACAAATGG 0.398 47 97 --- --- --- --- PASS MIPEP 4285 broad.mit.edu 37 13 24304513 24304513 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:24304513C>T uc001uox.3 - 19 2216 c.2116G>A c.(2116-2118)GAA>AAA p.E706K NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 706 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) AGGAAAGTTTCGAAGTCCAGA 0.413 18 37 --- --- --- --- PASS ATP12A 479 broad.mit.edu 37 13 25264605 25264605 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:25264605T>G uc001upp.2 + 6 863 c.676T>G c.(676-678)TGT>GGT p.C226G ATP12A_uc010aaa.2_Missense_Mutation_p.C226G NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 226 Cytoplasmic (Potential). Missing (in Ref. 7; CAA49477). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TTCTCAGGGGTGTCGGGTAAG 0.572 70 85 --- --- --- --- PASS ATP12A 479 broad.mit.edu 37 13 25284659 25284659 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:25284659T>C uc001upp.2 + 20 3012 c.2825T>C c.(2824-2826)CTA>CCA p.L942P ATP12A_uc010aaa.2_Missense_Mutation_p.L948P NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 942 Helical; (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) gttggcatcctagtccagcaa 0.423 80 121 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32752551 32752551 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:32752551G>T uc001utx.2 + 21 3155 c.2659G>T c.(2659-2661)GTG>TTG p.V887L FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 887 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) GCTCCAGTCGGTGATGCCTCT 0.507 69 215 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32798403 32798403 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:32798403G>C uc001utx.2 + 37 5293 c.4797G>C c.(4795-4797)TTG>TTC p.L1599F FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1599 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) CGGGCTGGTTGCTGACTATTA 0.512 66 80 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32813445 32813445 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:32813445C>A uc001utx.2 + 45 6971 c.6475C>A c.(6475-6477)CCC>ACC p.P2159T FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2159 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) TTTTGAAAATCCCAATCAGTT 0.443 45 165 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32912926 32912926 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:32912926A>G uc001uub.1 + 11 4661 c.4434A>G c.(4432-4434)CTA>CTG p.L1478L NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1478 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TGGACATTCTAAGTTATGAGG 0.338 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 95 106 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35770090 35770090 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:35770090A>G uc001uvb.2 + 31 5223 c.5017A>G c.(5017-5019)ACA>GCA p.T1673A NBEA_uc010abi.2_Missense_Mutation_p.T329A NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1673 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AATTCCCCATACAGATTCAGG 0.428 35 68 --- --- --- --- PASS C13orf23 80209 broad.mit.edu 37 13 39603500 39603500 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:39603500C>G uc001uwy.2 - 4 1066 c.193G>C c.(193-195)GTC>CTC p.V65L C13orf23_uc001uwz.2_Missense_Mutation_p.V43L NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 65 ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) GTTGGCTGGACAGCCACCATT 0.313 14 106 --- --- --- --- PASS NEK5 341676 broad.mit.edu 37 13 52657401 52657401 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:52657401C>A uc001vge.2 - 17 1707 c.1567G>T c.(1567-1569)GTG>TTG p.V523L NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 523 ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) ATTACCTGCACAGGTGCTTCT 0.343 11 78 --- --- --- --- PASS OLFM4 10562 broad.mit.edu 37 13 53603017 53603017 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:53603017G>T uc001vhl.2 + 1 46 c.46G>T c.(46-48)GGC>TGC p.G16C OLFM4_uc001vhk.1_Missense_Mutation_p.G16C NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 16 cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GTTCTTCCTTGGCCAAGCTGC 0.512 83 159 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67477735 67477735 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:67477735A>G uc001vik.2 - 3 3731 c.3039T>C c.(3037-3039)TGT>TGC p.C1013C PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Intron|PCDH9_uc010thl.1_Silent_p.C1013C NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1013 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TGTGTGAGTTACACTGAAAGA 0.418 32 29 --- --- --- --- PASS ZIC2 7546 broad.mit.edu 37 13 100637597 100637597 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:100637597G>A uc001von.2 + 3 1260 c.1260G>A c.(1258-1260)CAG>CAA p.Q420Q NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 420 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTCCCCGCAGGGCTCTGAAT 0.706 9 25 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111117775 111117775 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:111117775A>G uc001vqx.2 + 25 2089 c.1800A>G c.(1798-1800)CCA>CCG p.P600P NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 600 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGGGCCCTCCAGGGGACCCAG 0.512 52 80 --- --- --- --- PASS TFDP1 7027 broad.mit.edu 37 13 114287509 114287509 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr13:114287509A>C uc001vtw.2 + 6 595 c.383A>C c.(382-384)CAG>CCG p.Q128P TFDP1_uc010tkd.1_Missense_Mutation_p.Q33P|TFDP1_uc010tke.1_Missense_Mutation_p.Q33P|TFDP1_uc001vty.3_Missense_Mutation_p.Q128P|TFDP1_uc001vtx.2_Missense_Mutation_p.Q8P|TFDP1_uc010agx.2_Missense_Mutation_p.Q128P NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 128 Potential. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GAGAAGGTGCAGAGGAAAGGG 0.502 TSP Lung(29;0.18) 11 57 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20444091 20444091 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:20444091C>T uc010tkx.1 + 1 414 c.414C>T c.(412-414)CTC>CTT p.L138L NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 138 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) AAATGGTGCTCCTAGTTTCCA 0.458 56 167 --- --- --- --- PASS TTC5 91875 broad.mit.edu 37 14 20770004 20770004 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:20770004C>G uc001vwt.2 - 2 229 c.172G>C c.(172-174)GAA>CAA p.E58Q TTC5_uc001vwu.2_5'UTR NM_138376 NP_612385 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 58 DNA repair cytoplasm|nucleus binding ovary(1) 1 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) ACTACTTCTTCCATCTGCTGT 0.468 22 88 --- --- --- --- PASS OR10G3 26533 broad.mit.edu 37 14 22038500 22038500 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:22038500C>T uc010tmb.1 - 1 376 c.376G>A c.(376-378)GCA>ACA p.A126T NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) TGACATATTGCCAGGTACCTG 0.552 10 45 --- --- --- --- PASS DHRS2 10202 broad.mit.edu 37 14 24108548 24108548 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:24108548G>A uc001wkt.3 + 3 748 c.301G>A c.(301-303)GAG>AAG p.E101K DHRS2_uc010aku.1_Missense_Mutation_p.E101K|DHRS2_uc001wku.3_Missense_Mutation_p.E101K|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.E101K NM_182908 NP_878912 Q13268 DHRS2_HUMAN dehydrogenase/reductase member 2 isoform 1 79 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00659) TGAGGACCGGGAGCAGCTGGT 0.657 19 26 --- --- --- --- PASS DHRS2 10202 broad.mit.edu 37 14 24113371 24113371 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:24113371G>T uc001wkt.3 + 6 987 c.540G>T c.(538-540)GTG>GTT p.V180V DHRS2_uc001wku.3_Silent_p.V180V|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.V180V NM_182908 NP_878912 Q13268 DHRS2_HUMAN dehydrogenase/reductase member 2 isoform 1 158 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00659) ATCCAGTAGTGGTAAGTGCTT 0.498 45 105 --- --- --- --- PASS NOVA1 4857 broad.mit.edu 37 14 26917820 26917820 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:26917820C>A uc001wpy.2 - 5 1187 c.869G>T c.(868-870)GGA>GTA p.G290V NOVA1_uc001wpz.2_Missense_Mutation_p.G266V|NOVA1_uc001wqa.2_Missense_Mutation_p.G168V NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 293 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GTTAGCATGTCCTAATAGCCC 0.498 14 71 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30194873 30194873 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:30194873T>G uc001wqh.2 - 2 453 c.272A>C c.(271-273)GAA>GCA p.E91A NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 91 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GAAACCACATTCAGGGAACTG 0.383 3 86 --- --- --- --- PASS CLEC14A 161198 broad.mit.edu 37 14 38724223 38724223 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:38724223T>G uc001wum.1 - 1 1352 c.1005A>C c.(1003-1005)GAA>GAC p.E335D NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 335 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AATTGTCTTGTTCAGGGACAA 0.562 20 92 --- --- --- --- PASS PNN 5411 broad.mit.edu 37 14 39650827 39650827 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:39650827G>T uc001wuw.3 + 9 2011 c.1914G>T c.(1912-1914)CGG>CGT p.R638R NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 638 Ser-rich.|Arg-rich.|Necessary for interaction with PPIG. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GTAGGGGCCGGGGACATAATA 0.294 19 54 --- --- --- --- PASS KTN1 3895 broad.mit.edu 37 14 56146364 56146364 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:56146364C>A uc001xcb.2 + 44 4332 c.4030C>A c.(4030-4032)CAA>AAA p.Q1344K KTN1_uc001xce.2_Missense_Mutation_p.Q1287K|KTN1_uc001xcc.2_Missense_Mutation_p.Q1344K|KTN1_uc001xcd.2_Missense_Mutation_p.Q1293K|KTN1_uc010trb.1_Missense_Mutation_p.Q1316K|KTN1_uc001xcf.1_Missense_Mutation_p.Q1293K|KTN1_uc010aoq.2_Missense_Mutation_p.Q582K|KTN1_uc010trc.1_Missense_Mutation_p.Q321K|KTN1_uc001xcg.2_Missense_Mutation_p.Q277K NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 1344 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 GGCGGTAAACCAACAGCTCAC 0.408 T RET papillary thryoid 42 82 --- --- --- --- PASS ACTR10 55860 broad.mit.edu 37 14 58701178 58701178 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:58701178G>A uc001xdf.2 + 13 1266 c.1163G>A c.(1162-1164)TGT>TAT p.C388Y C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Missense_Mutation_p.C190Y|ACTR10_uc001xdh.2_Missense_Mutation_p.C190Y|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Missense_Mutation_p.C178Y NM_018477 NP_060947 Q9NZ32 ARP10_HUMAN uncharacterized hypothalamus protein HARP11 388 cytoplasm central_nervous_system(1) 1 CCTGATTGGTGTTCTCTCAAT 0.408 32 133 --- --- --- --- PASS SIX1 6495 broad.mit.edu 37 14 61113136 61113136 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:61113136G>A uc001xfb.3 - 2 968 c.720C>T c.(718-720)CAC>CAT p.H240H NM_005982 NP_005973 Q15475 SIX1_HUMAN SIX homeobox 1 240 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0201) AGCTCCTGGCGTGGCCCATAT 0.597 38 81 --- --- --- --- PASS GPHB5 122876 broad.mit.edu 37 14 63779814 63779814 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:63779814G>C uc010apu.2 - 3 220 c.220C>G c.(220-222)CCC>GCC p.P74A GPHB5_uc001xgc.2_Missense_Mutation_p.P64A NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN glycoprotein beta 5 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment extracellular region hormone activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) AATATAGGGGGGTTCCAGAAT 0.388 5 7 --- --- --- --- PASS HSPA2 3306 broad.mit.edu 37 14 65008114 65008114 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:65008114G>T uc001xhj.2 + 2 623 c.547G>T c.(547-549)GCC>TCC p.A183S HSPA2_uc001xhk.3_Missense_Mutation_p.A183S NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 183 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) GGCGGCCATCGCCTACGGCCT 0.632 27 52 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65246617 65246617 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:65246617C>T uc001xht.2 - 20 4353 c.4299G>A c.(4297-4299)GAG>GAA p.E1433E SPTB_uc001xhr.2_Silent_p.E1433E|SPTB_uc001xhs.2_Silent_p.E1433E|SPTB_uc001xhu.2_Silent_p.E1433E|SPTB_uc010aqi.2_Silent_p.E94E NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1433 Spectrin 11. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCCCCAGCTCCTCTTTTCGCA 0.507 44 148 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65253222 65253222 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:65253222C>T uc001xht.2 - 15 3515 c.3461G>A c.(3460-3462)GGC>GAC p.G1154D SPTB_uc001xhr.2_Missense_Mutation_p.G1154D|SPTB_uc001xhs.2_Missense_Mutation_p.G1154D|SPTB_uc001xhu.2_Missense_Mutation_p.G1154D NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1154 Spectrin 9. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCACATCCTGCCCAGGGCATT 0.607 6 25 --- --- --- --- PASS RDH12 145226 broad.mit.edu 37 14 68191292 68191292 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:68191292A>C uc001xjz.3 + 4 495 c.171A>C c.(169-171)AGA>AGC p.R57S NM_152443 NP_689656 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 57 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) AGACGGCCAGAGAGCTCGCTA 0.547 12 50 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68241800 68241800 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:68241800G>C uc001xka.2 - 27 5392 c.5253C>G c.(5251-5253)CAC>CAG p.H1751Q ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H1751Q NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1751 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTGCAGCCTGGTGGACAATTT 0.458 4 20 --- --- --- --- PASS SLC8A3 6547 broad.mit.edu 37 14 70522529 70522529 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:70522529C>A uc001xly.2 - 4 2644 c.1890G>T c.(1888-1890)GCG>GCT p.A630A SLC8A3_uc001xlu.2_Intron|SLC8A3_uc001xlv.2_Intron|SLC8A3_uc001xlw.2_Silent_p.A630A|SLC8A3_uc001xlx.2_Silent_p.A631A|SLC8A3_uc001xlz.2_Intron|SLC8A3_uc010ara.2_Intron|SLC8A3_uc001xma.2_Intron NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 630 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.A630E(1) skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ATAACAGGAGCGCTGTTTGCA 0.418 8 22 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71493521 71493521 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:71493521A>T uc001xmo.2 + 15 3834 c.3388A>T c.(3388-3390)ATT>TTT p.I1130F PCNX_uc010are.1_Missense_Mutation_p.I1019F|PCNX_uc010arf.1_5'UTR NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1130 Helical; (Potential). integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGTGTTTTTCATTGGTCTCCT 0.308 37 110 --- --- --- --- PASS ZFYVE1 53349 broad.mit.edu 37 14 73491086 73491086 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:73491086C>A uc001xnm.2 - 2 771 c.131G>T c.(130-132)CGC>CTC p.R44L ZFYVE1_uc010arj.2_Missense_Mutation_p.R44L NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 44 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CTCCTCGCAGCGGAGACACTG 0.567 36 83 --- --- --- --- PASS UBR7 55148 broad.mit.edu 37 14 93684957 93684957 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:93684957G>T uc001ybm.3 + 7 922 c.686G>T c.(685-687)GGA>GTA p.G229V UBR7_uc001ybn.3_Missense_Mutation_p.G153V|UBR7_uc010auq.2_Missense_Mutation_p.G78V NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 229 ubiquitin-protein ligase activity|zinc ion binding 0 CCTGAAAATGGAGAGCATCAA 0.443 29 58 --- --- --- --- PASS SERPINA4 5267 broad.mit.edu 37 14 95030431 95030431 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:95030431C>T uc001ydk.2 + 2 678 c.612C>T c.(610-612)GAC>GAT p.D204D SERPINA4_uc010avd.2_Silent_p.D241D|SERPINA4_uc001ydl.2_Silent_p.D204D NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 204 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) TCAAGAAGGACGTCTTGATGG 0.453 59 150 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95571462 95571462 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:95571462G>T uc001ydw.2 - 21 3397 c.3215C>A c.(3214-3216)GCC>GAC p.A1072D DICER1_uc010avh.1_5'UTR|DICER1_uc001ydv.2_Missense_Mutation_p.A1062D|DICER1_uc001ydx.2_Missense_Mutation_p.A1072D|DICER1_uc001ydy.1_5'Flank NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1072 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGCAGTCTGGGCTCTTAGCTC 0.502 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 6 189 --- --- --- --- PASS BCL11B 64919 broad.mit.edu 37 14 99642498 99642498 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:99642498T>C uc001yga.2 - 4 942 c.675A>G c.(673-675)ACA>ACG p.T225T BCL11B_uc001ygb.2_Silent_p.T154T NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 225 C2H2-type 1. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCTGCTTGCATGTTGTGCAAA 0.637 T TLX3 T-ALL 12 28 --- --- --- --- PASS WARS 7453 broad.mit.edu 37 14 100828124 100828124 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:100828124T>C uc001yhf.1 - 2 318 c.234A>G c.(232-234)ACA>ACG p.T78T WARS_uc001yhg.1_Silent_p.T78T|WARS_uc001yhh.1_Silent_p.T78T|WARS_uc001yhi.1_Silent_p.T37T|WARS_uc001yhj.1_Silent_p.T37T|WARS_uc001yhk.1_Silent_p.T37T|WARS_uc001yhl.1_Silent_p.T78T|WARS_uc010twz.1_Silent_p.T78T NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 78 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) CTTCAGCTTCTGTGGCATCTG 0.502 60 187 --- --- --- --- PASS WDR20 91833 broad.mit.edu 37 14 102606455 102606455 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:102606455C>A uc001ykz.2 + 1 244 c.195C>A c.(193-195)CTC>CTA p.L65L WDR20_uc001yky.1_Translation_Start_Site|WDR20_uc001yla.2_Translation_Start_Site|WDR20_uc001ylb.2_Silent_p.L65L|WDR20_uc010txu.1_Silent_p.L65L|WDR20_uc001ylc.2_Silent_p.L65L|WDR20_uc001yld.2_Silent_p.L65L|WDR20_uc001yle.2_Silent_p.L65L|WDR20_uc001ylf.2_Silent_p.L65L|HSP90AA1_uc001ykv.3_5'Flank NM_144574 NP_653175 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 isoform 2 65 0 GCGACCGCCTCTGCTTCAATG 0.637 13 26 --- --- --- --- PASS ADSSL1 122622 broad.mit.edu 37 14 105201411 105201411 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:105201411C>T uc001ypd.2 + 2 321 c.247C>T c.(247-249)CAC>TAC p.H83Y INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.H126Y|ADSSL1_uc001ypf.2_RNA NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 83 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GTACGACTTCCACCTGCTGCC 0.612 10 18 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106610580 106610580 + RNA SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr14:106610580C>A uc010tyt.1 - 1167 c.26251G>T Parts of antibodies, mostly variable regions. 0 CAGGCTTTACCAAGCCTCCCC 0.567 39 81 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22383085 22383085 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:22383085C>A uc001yuc.1 + 7 1594 c.613C>A c.(613-615)CTG>ATG p.L205M LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.L205M NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CAACAGTGGCCTGATGACACT 0.517 12 199 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921812 24921812 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:24921812C>T uc001ywo.2 + 1 1272 c.798C>T c.(796-798)GCC>GCT p.A266A NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 266 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGAGCCAGCCGTTGGCTGCT 0.637 17 45 --- --- --- --- PASS FMN1 342184 broad.mit.edu 37 15 33180426 33180426 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:33180426A>C uc001zhf.3 - 12 3113 c.3113T>G c.(3112-3114)GTC>GGC p.V1038G NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 1261 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TTCAAACTTGACTTGGGAGGC 0.373 26 40 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34047380 34047380 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:34047380A>T uc001zhi.2 + 58 8584 c.8514A>T c.(8512-8514)TTA>TTT p.L2838F RYR3_uc010bar.2_Missense_Mutation_p.L2838F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2838 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCCCATTTAGGTAAGTATC 0.348 17 22 --- --- --- --- PASS TMCO5A 145942 broad.mit.edu 37 15 38235579 38235579 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:38235579C>G uc001zjw.2 + 9 710 c.607C>G c.(607-609)CAT>GAT p.H203D TMCO5A_uc001zjv.1_Missense_Mutation_p.H203D NM_152453 NP_689666 Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 203 integral to membrane central_nervous_system(1) 1 GGAAAAAGAGCATACCAGCCA 0.408 23 57 --- --- --- --- PASS RPAP1 26015 broad.mit.edu 37 15 41821753 41821753 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:41821753C>A uc001zod.2 - 9 1197 c.1073G>T c.(1072-1074)CGA>CTA p.R358L NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 358 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) AAGACTGAATCGAGCCTGCAT 0.592 16 33 --- --- --- --- PASS PLA2G4D 283748 broad.mit.edu 37 15 42379558 42379558 + Silent SNP G A A rs140617872 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:42379558G>A uc001zox.2 - 3 290 c.195C>T c.(193-195)ACC>ACT p.T65T NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 65 C2. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) GACTGGTGTCGGTGAGCGTCT 0.552 81 197 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49048574 49048574 + Silent SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:49048574C>G uc001zwy.2 - 20 2905 c.2871G>C c.(2869-2871)CGG>CGC p.R957R CEP152_uc001zwz.2_Silent_p.R957R|CEP152_uc001zxa.1_Silent_p.R864R NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 957 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TCCATTCACTCCGAGCCTTAG 0.388 34 103 --- --- --- --- PASS CYP19A1 1588 broad.mit.edu 37 15 51514634 51514634 + Missense_Mutation SNP A T T rs34896264 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:51514634A>T uc001zyz.3 - 6 791 c.540T>A c.(538-540)AAT>AAA p.N180K CYP19A1_uc001zza.3_Missense_Mutation_p.N180K|CYP19A1_uc001zzb.2_Missense_Mutation_p.N180K|CYP19A1_uc001zzd.2_Missense_Mutation_p.N180K|CYP19A1_uc010bey.1_Missense_Mutation_p.N180K NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 180 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) AGCCCGATTCATTGGTCACCT 0.522 23 63 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51755631 51755631 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:51755631A>G uc002abf.2 - 33 8093 c.7868T>C c.(7867-7869)GTC>GCC p.V2623A DMXL2_uc002abd.2_Missense_Mutation_p.V694A|DMXL2_uc010ufy.1_Missense_Mutation_p.V2624A|DMXL2_uc010bfa.2_Missense_Mutation_p.V1987A NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2623 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CTCTTGAAGGACCTCTTGTTT 0.299 62 150 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52720734 52720734 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:52720734C>T uc002aby.2 - 3 415 c.171G>A c.(169-171)AAG>AAA p.K57K MYO5A_uc002abx.3_Silent_p.K57K|MYO5A_uc010uge.1_Intron NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 57 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GAGGCAGCTCCTTGGTCTTTG 0.458 51 132 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62221838 62221838 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:62221838C>A uc002agz.2 - 51 6222 c.6148G>T c.(6148-6150)GTA>TTA p.V2050L VPS13C_uc002aha.2_Missense_Mutation_p.V2007L|VPS13C_uc002ahb.1_Missense_Mutation_p.V2050L|VPS13C_uc002ahc.1_Missense_Mutation_p.V2007L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2050 protein localization ovary(2) 2 CTGGCACATACATACAGCTTG 0.368 30 77 --- --- --- --- PASS SNX1 6642 broad.mit.edu 37 15 64422221 64422221 + Nonsense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:64422221C>G uc002amv.2 + 9 950 c.914C>G c.(913-915)TCA>TGA p.S305* SNX1_uc010bgv.2_Nonsense_Mutation_p.S19*|SNX1_uc010uio.1_Nonsense_Mutation_p.S305*|SNX1_uc002amw.2_Nonsense_Mutation_p.S305*|SNX1_uc002amx.2_Nonsense_Mutation_p.S240*|SNX1_uc002amy.2_Nonsense_Mutation_p.S234*|SNX1_uc010bgw.2_Nonsense_Mutation_p.S207* NM_003099 NP_003090 Q13596 SNX1_HUMAN sorting nexin 1 isoform a 305 BAR. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity 0 ATGAATGAATCAGACATTGTG 0.483 3 93 --- --- --- --- PASS IGDCC4 57722 broad.mit.edu 37 15 65678235 65678235 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:65678235G>T uc002aou.1 - 18 3324 c.3114C>A c.(3112-3114)GAC>GAA p.D1038E IGDCC4_uc002aot.1_Missense_Mutation_p.D626E NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 1038 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 CTTCAGCCCTGTCCTCCACGT 0.612 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 80 --- --- --- --- PASS LCTL 197021 broad.mit.edu 37 15 66844498 66844498 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:66844498C>T uc002aqc.2 - 10 1339 c.1207G>A c.(1207-1209)GGT>AGT p.G403S LCTL_uc002aqd.3_Missense_Mutation_p.G230S|LCTL_uc010bhw.2_Missense_Mutation_p.G101S NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 403 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 GGAGGATCACCGTATTGAGTC 0.363 35 101 --- --- --- --- PASS LBXCOR1 390598 broad.mit.edu 37 15 68122622 68122622 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:68122622C>A uc002aqy.1 + 5 2369 c.2369C>A c.(2368-2370)GCA>GAA p.A790E NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 834 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 CCAAGTCCTGCAAATACAGAC 0.557 27 46 --- --- --- --- PASS CYP1A1 1543 broad.mit.edu 37 15 75014673 75014673 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:75014673C>A uc002ayp.3 - 2 888 c.766G>T c.(766-768)GAG>TAG p.E256* CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_5'UTR|CYP1A1_uc010bjx.2_5'UTR|CYP1A1_uc002ayq.3_Nonsense_Mutation_p.E256*|CYP1A1_uc010bjy.2_Nonsense_Mutation_p.E256*|CYP1A1_uc010bjz.1_5'UTR NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 256 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) TAGAACTTCTCATTCAGGTCC 0.502 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 30 48 --- --- --- --- PASS KIAA1199 57214 broad.mit.edu 37 15 81212548 81212548 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:81212548C>A uc002bfw.1 + 14 2171 c.1911C>A c.(1909-1911)ACC>ACA p.T637T KIAA1199_uc010unn.1_Silent_p.T637T NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 637 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 AGTCTGGAACCCTCCTCCCCT 0.557 28 93 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84592672 84592672 + Silent SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:84592672A>T uc002bjz.3 + 17 2228 c.2004A>T c.(2002-2004)ATA>ATT p.I668I ADAMTSL3_uc010bmt.1_Silent_p.I668I|ADAMTSL3_uc010bmu.1_Silent_p.I668I NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 668 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AAGAAGCCATAGCAGTGTGCT 0.443 26 57 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346675 102346675 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:102346675T>A uc010utr.1 + 1 753 c.753T>A c.(751-753)TTT>TTA p.F251L NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTTTGGTCTTTGGGCCATTAA 0.373 84 333 --- --- --- --- PASS CACNA1H 8912 broad.mit.edu 37 16 1262139 1262139 + Splice_Site SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:1262139G>A uc002cks.2 + 25 5007 c.4759_splice c.e25+1 p.S1587_splice CACNA1H_uc002ckt.2_Splice_Site_p.K1587_splice|CACNA1H_uc002cku.2_Splice_Site_p.S293_splice|CACNA1H_uc010brj.2_Missense_Mutation_p.S293N|CACNA1H_uc002ckv.2_Splice_Site_p.K293_splice NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGGCGCAGGAGTAAGGCGCTC 0.731 4 7 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2369699 2369699 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:2369699T>C uc002cpy.1 - 8 1468 c.756A>G c.(754-756)GCA>GCG p.A252A ABCA3_uc010bsk.1_Silent_p.A252A|ABCA3_uc010bsl.1_Silent_p.A252A NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 252 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GGAAGGGGTCTGCGATGAACG 0.627 9 52 --- --- --- --- PASS ABAT 18 broad.mit.edu 37 16 8870208 8870208 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:8870208G>T uc002czc.3 + 14 1296 c.1130G>T c.(1129-1131)CGG>CTG p.R377L ABAT_uc002czd.3_Missense_Mutation_p.R377L|ABAT_uc010buh.2_Missense_Mutation_p.R319L|ABAT_uc010bui.2_Missense_Mutation_p.R377L NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 377 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CAGCCCTACCGGATCTTCAAC 0.572 25 54 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9862871 9862871 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:9862871T>A uc002czo.3 - 12 2980 c.2432A>T c.(2431-2433)CAG>CTG p.Q811L GRIN2A_uc010uym.1_Missense_Mutation_p.Q811L|GRIN2A_uc010uyn.1_Missense_Mutation_p.Q654L|GRIN2A_uc002czr.3_Missense_Mutation_p.Q811L NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 811 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AATGTCCAGCTGGCTGCTCAT 0.557 30 53 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20331649 20331649 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:20331649C>G uc002dgv.2 - 6 885 c.802G>C c.(802-804)GAG>CAG p.E268Q GP2_uc002dgw.2_Missense_Mutation_p.E265Q|GP2_uc002dgx.2_Missense_Mutation_p.E121Q|GP2_uc002dgy.2_Missense_Mutation_p.E118Q NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 268 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 TTCCTCTCCTCTGTCTGCAAG 0.562 14 116 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20441012 20441012 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:20441012G>C uc002dhe.2 + 8 1161 c.1014G>C c.(1012-1014)CAG>CAC p.Q338H NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 338 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 ACCAGTTTCAGAGCCTGAGGC 0.562 23 46 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20494478 20494478 + Silent SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:20494478C>G uc010bwe.2 + 14 1847 c.1608C>G c.(1606-1608)GCC>GCG p.A536A ACSM2A_uc002dhf.3_Silent_p.A536A|ACSM2A_uc002dhg.3_Silent_p.A536A|ACSM2A_uc010vay.1_Silent_p.A457A|ACSM2A_uc002dhh.3_Silent_p.A166A NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 536 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CAGTGACAGCCCCATACAAGT 0.483 8 125 --- --- --- --- PASS ITGAM 3684 broad.mit.edu 37 16 31332938 31332938 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:31332938G>T uc002ebq.2 + 16 2090 c.1992G>T c.(1990-1992)CGG>CGT p.R664R ITGAM_uc002ebr.2_Silent_p.R665R|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Silent_p.R70R|ITGAM_uc002ebs.1_Silent_p.R70R NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 664 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CACGGGATCGGCTAAGAGAAG 0.532 35 75 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31429860 31429860 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:31429860T>C uc002ebv.1 + 23 2804 c.2755T>C c.(2755-2757)TAT>CAT p.Y919H ITGAD_uc010cap.1_Missense_Mutation_p.Y920H NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 919 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 CCCGGTGAAGTATGCAGTCTA 0.567 40 94 --- --- --- --- PASS GPT2 84706 broad.mit.edu 37 16 46952628 46952628 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:46952628G>C uc002eel.2 + 8 1090 c.996G>C c.(994-996)GAG>GAC p.E332D GPT2_uc002eem.2_Missense_Mutation_p.E232D NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 332 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCAACGTGGAGCTCGCCTCCT 0.612 23 123 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49671670 49671670 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:49671670T>C uc002efs.2 - 5 1691 c.1393A>G c.(1393-1395)AAG>GAG p.K465E ZNF423_uc010vgn.1_Missense_Mutation_p.K348E NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 465 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCATGGTTCTTGTGCAGCTTG 0.567 37 65 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50759418 50759418 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:50759418C>A uc002egm.1 + 10 3006 c.2901C>A c.(2899-2901)CTC>CTA p.L967L NOD2_uc010vgq.1_Silent_p.L12L NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 967 LRR 7. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) AGAACCATCTCCAGGATGAAG 0.413 30 107 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50759419 50759419 + Nonsense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:50759419C>T uc002egm.1 + 10 3007 c.2902C>T c.(2902-2904)CAG>TAG p.Q968* NOD2_uc010vgq.1_Nonsense_Mutation_p.Q13* NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 968 LRR 7. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) GAACCATCTCCAGGATGAAGG 0.413 32 105 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51175285 51175285 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:51175285G>T uc010vgs.1 - 2 879 c.848C>A c.(847-849)TCC>TAC p.S283Y SALL1_uc010vgr.1_Missense_Mutation_p.S186Y|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 283 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACTTAGCGTGGACAAGGGGTT 0.493 57 94 --- --- --- --- PASS CES7 221223 broad.mit.edu 37 16 55880745 55880745 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:55880745G>A uc002eip.2 - 12 1580 c.1431C>T c.(1429-1431)GCC>GCT p.A477A CES7_uc002eio.2_Silent_p.A427A|CES7_uc002eiq.2_Silent_p.A238A|CES7_uc002eir.2_Silent_p.A371A NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 477 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) CCTCCTCCGTGGCTCCTTCTG 0.458 68 188 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56913034 56913034 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:56913034C>T uc010ccm.2 + 10 1259 c.1230C>T c.(1228-1230)ACC>ACT p.T410T SLC12A3_uc002ekd.3_Silent_p.T410T|SLC12A3_uc010ccn.2_Silent_p.T409T NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 410 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) ACACAGTGACCCCTGGCTGGG 0.617 15 20 --- --- --- --- PASS DDX19A 55308 broad.mit.edu 37 16 70404234 70404234 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:70404234C>T uc002eyv.2 + 10 1200 c.1129C>T c.(1129-1131)CGC>TGC p.R377C DDX19B_uc010vly.1_Missense_Mutation_p.R378C|DDX19A_uc002eys.2_Missense_Mutation_p.R378C|DDX19A_uc010cfq.1_Missense_Mutation_p.R132C|DDX19A_uc010cfr.2_Missense_Mutation_p.R227C|DDX19A_uc010cfs.2_Missense_Mutation_p.R200C|DDX19A_uc010vlz.1_Missense_Mutation_p.R346C|DDX19A_uc010vma.1_Missense_Mutation_p.R287C NM_018332 NP_060802 Q9NUU7 DD19A_HUMAN DDX19-like protein 377 Helicase C-terminal. mRNA transport|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding 0 Ovarian(137;0.221) GGTGATTGAGCGCTTCCGAGA 0.612 21 66 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76486590 76486590 + Missense_Mutation SNP C G G rs151315964 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:76486590C>G uc002feu.1 + 10 1642 c.1257C>G c.(1255-1257)ATC>ATG p.I419M CNTNAP4_uc002fev.1_Missense_Mutation_p.I283M|CNTNAP4_uc010chb.1_Missense_Mutation_p.I346M|CNTNAP4_uc002fex.1_Missense_Mutation_p.I422M|CNTNAP4_uc002few.2_Missense_Mutation_p.I394M NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 419 Extracellular (Potential).|Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CAGGGGGTATCCTCCTCTTTC 0.458 35 82 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76587757 76587757 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:76587757G>T uc002feu.1 + 25 4071 c.3686G>T c.(3685-3687)AGA>ATA p.R1229I CNTNAP4_uc002fev.1_Missense_Mutation_p.R1093I|CNTNAP4_uc010chb.1_Missense_Mutation_p.R1156I|CNTNAP4_uc002fex.1_Missense_Mutation_p.R1232I NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1229 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 ATAGATGACAGAGAGCCCCTT 0.358 9 27 --- --- --- --- PASS KCNG4 93107 broad.mit.edu 37 16 84270616 84270616 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr16:84270616C>T uc010voc.1 - 2 597 c.476G>A c.(475-477)AGG>AAG p.R159K KCNG4_uc002fhu.1_Missense_Mutation_p.R159K NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 159 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 CAGGCAGCACCTCTCCAGGTG 0.667 14 41 --- --- --- --- PASS OR1A1 8383 broad.mit.edu 37 17 3119289 3119289 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:3119289C>A uc010vrc.1 + 1 375 c.375C>A c.(373-375)GCC>GCA p.A125A NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAGCTGTGGCCATCAGCCGCC 0.488 47 61 --- --- --- --- PASS ZBTB4 57659 broad.mit.edu 37 17 7365586 7365586 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:7365586G>T uc002ghc.3 - 4 2965 c.2715C>A c.(2713-2715)GAC>GAA p.D905E ZBTB4_uc002ghd.3_Missense_Mutation_p.D905E NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 905 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CCTCCATCCGGTCCCCCTCAC 0.627 15 51 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:7577574T>C uc002gim.2 - 7 901 c.707A>G c.(706-708)TAC>TGC p.Y236C TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.2_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 236 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; 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.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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) GTTACACATGTAGTTGTAGTG 0.572 111 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) 27 33 --- --- --- --- PASS GLP2R 9340 broad.mit.edu 37 17 9763275 9763275 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:9763275G>C uc002gmd.1 + 7 782 c.782G>C c.(781-783)CGC>CCC p.R261P NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 261 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) ACCTCCTGCCGCTCAGTCCAG 0.572 26 47 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10356534 10356534 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:10356534T>C uc002gmn.2 - 24 3157 c.3046A>G c.(3046-3048)ATG>GTG p.M1016V uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1016 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TCCTCCTCCATCTGCAGGTCA 0.493 57 219 --- --- --- --- PASS CCDC144A 9720 broad.mit.edu 37 17 16593972 16593972 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:16593972A>G uc002gqk.1 + 1 334 c.258A>G c.(256-258)AGA>AGG p.R86R NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 86 0 AGCTCCACAGAGCTGCCCGGT 0.632 45 183 --- --- --- --- PASS PIGS 94005 broad.mit.edu 37 17 26883210 26883210 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:26883210C>T uc002hbo.2 - 10 1528 c.1155G>A c.(1153-1155)GTG>GTA p.V385V PIGS_uc002hbn.2_Silent_p.V377V|PIGS_uc010wap.1_Silent_p.V324V NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 385 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) ACACCTCCATCACTCGCACCA 0.507 89 65 --- --- --- --- PASS CPD 1362 broad.mit.edu 37 17 28706695 28706695 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:28706695G>T uc002hfb.1 + 1 712 c.697G>T c.(697-699)GAC>TAC p.D233Y CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 233 Extracellular (Potential).|Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 CCCCGCCCTGGACGAGGTGCC 0.706 10 1 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29556345 29556345 + Nonsense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:29556345T>A uc002hgg.2 + 21 3045 c.2712T>A c.(2710-2712)TGT>TGA p.C904* NF1_uc002hgh.2_Nonsense_Mutation_p.C904*|NF1_uc010csn.1_Nonsense_Mutation_p.C764*|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 904 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) 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) TAATGGTGTGTAACCATGAGA 0.418 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) 88 55 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32955603 32955603 + Silent SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:32955603G>C uc002hif.2 + 4 1078 c.750G>C c.(748-750)GTG>GTC p.V250V NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 250 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) AGAAGGGTGTGACCCTTTTAG 0.597 42 60 --- --- --- --- PASS MMP28 79148 broad.mit.edu 37 17 34106035 34106035 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:34106035T>A uc002hjy.1 - 3 495 c.236A>T c.(235-237)GAC>GTC p.D79V MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.D79V NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 79 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGTGGCGCGGTCCAACACGCC 0.607 15 51 --- --- --- --- PASS AATF 26574 broad.mit.edu 37 17 35311101 35311101 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:35311101C>T uc002hni.2 + 4 977 c.726C>T c.(724-726)ATC>ATT p.I242I AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 242 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) AAGGAAGGATCAAACTACAAA 0.468 18 176 --- --- --- --- PASS RAPGEFL1 51195 broad.mit.edu 37 17 38347644 38347644 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:38347644G>A uc010cwu.1 + 9 1284 c.794G>A c.(793-795)CGC>CAC p.R265H RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R201H NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 471 Ras-GEF. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CTGCTGCAGCGCTGCAGCGAG 0.692 4 15 --- --- --- --- PASS KRTAP4-4 84616 broad.mit.edu 37 17 39316871 39316871 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:39316871A>T uc002hwc.2 - 1 113 c.73T>A c.(73-75)TAC>AAC p.Y25N NM_032524 NP_115913 Q9BYR3 KRA44_HUMAN keratin associated protein 4.4 25 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GTCTGGCAGTAGCTGGGACGG 0.637 27 115 --- --- --- --- PASS STAT5A 6776 broad.mit.edu 37 17 40447725 40447725 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:40447725C>T uc002hzj.1 + 6 1106 c.464C>T c.(463-465)ACG>ATG p.T155M STAT5A_uc010cya.1_Missense_Mutation_p.T155M|STAT5A_uc010cyb.1_Missense_Mutation_p.T155M|STAT5A_uc010cyc.1_Missense_Mutation_p.T125M NM_003152 NP_003143 P42229 STA5A_HUMAN signal transducer and activator of transcription 155 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CGACTGGTCACGCAGGACACA 0.557 8 38 --- --- --- --- PASS AOC3 8639 broad.mit.edu 37 17 41004870 41004870 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:41004870A>T uc002ibv.2 + 1 1670 c.1510A>T c.(1510-1512)ACT>TCT p.T504S NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 504 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CTTTGGTGCTACTGGGAAGTA 0.542 92 46 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41219706 41219706 + Missense_Mutation SNP C A A rs80357169 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:41219706C>A uc002icq.2 - 16 5225 c.4993G>T c.(4993-4995)GTG>TTG p.V1665L BRCA1_uc010whp.1_Missense_Mutation_p.V514L|BRCA1_uc010whl.1_Missense_Mutation_p.V561L|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.V1594L|BRCA1_uc002icu.2_Missense_Mutation_p.V561L|BRCA1_uc010cyx.2_Missense_Mutation_p.V1618L|BRCA1_uc002ict.2_Missense_Mutation_p.V1686L|BRCA1_uc010whn.1_Missense_Mutation_p.V156L|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.V394L|BRCA1_uc002idc.1_Missense_Mutation_p.V561L|BRCA1_uc010whr.1_Missense_Mutation_p.V515L NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1665 BRCT 1. V -> M. androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AACTTGTACACGAGCATCTGA 0.294 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 61 45 --- --- --- --- PASS MPP3 4356 broad.mit.edu 37 17 41891578 41891578 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:41891578C>A uc002iei.3 - 15 1327 c.1161G>T c.(1159-1161)CTG>CTT p.L387L MPP3_uc002ieh.2_Silent_p.L412L|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 387 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TCAGAACCACCAGGCGGGGCC 0.627 167 100 --- --- --- --- PASS ADAM11 4185 broad.mit.edu 37 17 42855529 42855529 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:42855529G>C uc002ihh.2 + 25 2195 c.2195G>C c.(2194-2196)GGC>GCC p.G732A ADAM11_uc010wjd.1_Missense_Mutation_p.G532A|ADAM11_uc002ihi.2_Missense_Mutation_p.A85P NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 732 Extracellular (Potential). integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GGTCCCAGCGGCACCAACATC 0.607 8 29 --- --- --- --- PASS WFIKKN2 124857 broad.mit.edu 37 17 48917193 48917193 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:48917193C>A uc002isv.3 + 2 1238 c.544C>A c.(544-546)CCC>ACC p.P182T WFIKKN2_uc010dbu.2_Missense_Mutation_p.P89T NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 182 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTTCACCTGGCCCAACACCAG 0.627 24 32 --- --- --- --- PASS CCDC45 90799 broad.mit.edu 37 17 62533868 62533868 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:62533868T>G uc002jem.2 + 20 2495 c.2437T>G c.(2437-2439)TTT>GTT p.F813V CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.F649V NM_138363 NP_612372 Q96GE4 CEP95_HUMAN coiled-coil domain containing 45 813 centrosome|spindle pole protein binding 0 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GCTGGCTTCCTTTCAGTACAG 0.478 6 24 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65889725 65889725 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:65889725G>T uc002jgf.2 + 6 2356 c.2295G>T c.(2293-2295)TGG>TGT p.W765C BPTF_uc002jge.2_Missense_Mutation_p.W891C|BPTF_uc010wqm.1_Missense_Mutation_p.W828C NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 891 Interaction with MAZ. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AGTTCAAATGGAACGGTTCTG 0.423 37 116 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65925453 65925453 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:65925453C>T uc002jgf.2 + 17 6061 c.6000C>T c.(5998-6000)GGC>GGT p.G2000G BPTF_uc002jge.2_Silent_p.G2126G NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2126 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTTTTAAGGCGTTGTTCAAG 0.428 70 68 --- --- --- --- PASS ABCA6 23460 broad.mit.edu 37 17 67081191 67081191 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:67081191C>G uc002jhw.1 - 32 4337 c.4162G>C c.(4162-4164)GAC>CAC p.D1388H NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1388 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) AGCCTCGCGTCCGCTTTCCTG 0.557 28 29 --- --- --- --- PASS CD300C 10871 broad.mit.edu 37 17 72539114 72539114 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:72539114G>T uc002jky.1 - 3 774 c.413C>A c.(412-414)ACA>AAA p.T138K NM_006678 NP_006669 Q08708 CLM6_HUMAN CD300C antigen precursor 138 Pro-rich.|Extracellular (Potential). cellular defense response integral to plasma membrane transmembrane receptor activity 0 GCTGGAGGCTGTGGTCGTCCC 0.597 5 132 --- --- --- --- PASS SAP30BP 29115 broad.mit.edu 37 17 73702537 73702537 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:73702537C>T uc002jpe.2 + 11 917 c.863C>T c.(862-864)GCC>GTC p.A288V SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.A272V NM_013260 NP_037392 Q9UHR5 S30BP_HUMAN transcriptional regulator protein 288 Thr-rich. apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACCACCAGCGCCAGCGGCTCC 0.607 113 139 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73747075 73747075 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:73747075C>T uc002jpg.2 + 30 3863 c.3676C>T c.(3676-3678)CTG>TTG p.L1226L ITGB4_uc002jph.2_Silent_p.L1226L|ITGB4_uc002jpi.3_Silent_p.L1226L|ITGB4_uc002jpj.2_Silent_p.L1226L NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1226 Fibronectin type-III 2.|Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCAGGGCGTCTGGCCTTCAA 0.632 55 222 --- --- --- --- PASS MGAT5B 146664 broad.mit.edu 37 17 74944914 74944914 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr17:74944914T>C uc002jti.2 + 16 2503 c.2400T>C c.(2398-2400)TGT>TGC p.C800C MGAT5B_uc002jth.2_Silent_p.C789C|MGAT5B_uc002jtj.2_Silent_p.C196C NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 791 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 GCCAGGGCTGTCTGTGAATCC 0.677 3 15 --- --- --- --- PASS ANKRD12 23253 broad.mit.edu 37 18 9208692 9208692 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:9208692A>T uc002knv.2 + 5 599 c.342A>T c.(340-342)GAA>GAT p.E114D ANKRD12_uc010wzn.1_Missense_Mutation_p.E114D|ANKRD12_uc002knw.2_Missense_Mutation_p.E91D|ANKRD12_uc002knx.2_Missense_Mutation_p.E91D NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 114 nucleus ovary(2)|central_nervous_system(1) 3 CAAAAAAGGAAGCTGGAAATA 0.353 61 57 --- --- --- --- PASS RNMT 8731 broad.mit.edu 37 18 13759960 13759960 + Silent SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:13759960C>G uc002ksk.1 + 11 1480 c.1413C>G c.(1411-1413)GCC>GCG p.A471A RNMT_uc002ksl.1_Silent_p.A471A|RNMT_uc002ksm.1_Silent_p.A471A|RNMT_uc010dlk.2_Intron|RNMT_uc010xae.1_RNA NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 471 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 TGGTGTTTGCCTTTGAGAAAC 0.353 30 39 --- --- --- --- PASS ROCK1 6093 broad.mit.edu 37 18 18571141 18571141 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:18571141C>T uc002kte.2 - 18 3080 c.2139G>A c.(2137-2139)ATG>ATA p.M713I NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 713 Glu-rich.|Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) ACTTACCACACATTGCCACAG 0.318 217 164 --- --- --- --- PASS MIB1 57534 broad.mit.edu 37 18 19424132 19424132 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:19424132A>T uc002ktq.2 + 15 2129 c.2129A>T c.(2128-2130)CAC>CTC p.H710L MIB1_uc002ktp.2_Missense_Mutation_p.H349L NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 710 ANK 9. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) CTAAGGCATCACACTTTGTCT 0.468 50 280 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25562912 25562912 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:25562912T>A uc002kwg.2 - 14 2804 c.2345A>T c.(2344-2346)GAC>GTC p.D782V CDH2_uc010xbn.1_Missense_Mutation_p.D751V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 782 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GCTCACCTGGTCTTCTTCTCC 0.323 9 350 --- --- --- --- PASS DSC3 1825 broad.mit.edu 37 18 28612202 28612202 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:28612202A>T uc002kwj.3 - 2 265 c.110T>A c.(109-111)CTT>CAT p.L37H DSC3_uc002kwi.3_Missense_Mutation_p.L37H NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 37 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) AGGTACATTAAGTATCACCTT 0.294 6 310 --- --- --- --- PASS DSG4 147409 broad.mit.edu 37 18 28966736 28966736 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:28966736C>A uc002kwq.2 + 3 305 c.170C>A c.(169-171)GCC>GAC p.A57D DSG4_uc002kwr.2_Missense_Mutation_p.A57D NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 57 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTTGCCGCAGCCTGTCGAGAA 0.448 53 314 --- --- --- --- PASS C18orf34 374864 broad.mit.edu 37 18 30926304 30926304 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:30926304G>C uc002kxn.2 - 8 671 c.529C>G c.(529-531)CTA>GTA p.L177V C18orf34_uc010xbr.1_Missense_Mutation_p.L177V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.L177V|C18orf34_uc002kxp.2_Missense_Mutation_p.L177V NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 177 Potential. ovary(1) 1 TCAGTTTCTAGACTTTTAATG 0.363 22 331 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74592249 74592249 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr18:74592249G>T uc002lmi.2 + 8 1357 c.1159G>T c.(1159-1161)GGC>TGC p.G387C ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.G387C NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 387 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CATCACAGTGGGCATCAACCA 0.597 13 19 --- --- --- --- PASS ZFR2 23217 broad.mit.edu 37 19 3823291 3823291 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:3823291C>G uc002lyw.2 - 8 1336 c.1324G>C c.(1324-1326)GCG>CCG p.A442P ZFR2_uc010xhx.1_RNA NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 442 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GAGCAGCCCGCGGGAGCTTCC 0.632 7 164 --- --- --- --- PASS HNRNPM 4670 broad.mit.edu 37 19 8550724 8550724 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:8550724G>C uc010dwe.2 + 14 1492 c.1412G>C c.(1411-1413)CGC>CCC p.R471P HNRNPM_uc010xke.1_Missense_Mutation_p.R417P|HNRNPM_uc010dwd.2_Missense_Mutation_p.R432P|HNRNPM_uc002mka.2_Missense_Mutation_p.R336P|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 471 10.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 AGCATTGAGCGCATGGGCCAG 0.687 23 69 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9058345 9058345 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:9058345C>A uc002mkp.2 - 3 29305 c.29101G>T c.(29101-29103)GAG>TAG p.E9701* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9703 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 TTGGTCATCTCTGAGTGTGAA 0.478 12 56 --- --- --- --- PASS OR7E24 26648 broad.mit.edu 37 19 9362505 9362505 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:9362505C>A uc002mlb.1 + 1 786 c.786C>A c.(784-786)CAC>CAA p.H262Q NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 262 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTGGCTCTCACCTGGCAGTTG 0.458 11 28 --- --- --- --- PASS FBXW9 84261 broad.mit.edu 37 19 12800594 12800594 + Missense_Mutation SNP C A A rs62108390 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:12800594C>A uc010dyx.2 - 7 1187 c.1187G>T c.(1186-1188)GGC>GTC p.G396V FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.G376V|FBXW9_uc002mun.1_Missense_Mutation_p.G213V NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 406 WD 5. protein binding ovary(1) 1 CTGGAAGCAGCCGTTGCGGTT 0.657 23 66 --- --- --- --- PASS FBXW9 84261 broad.mit.edu 37 19 12800595 12800595 + Missense_Mutation SNP C A A rs147127517 byFrequency TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:12800595C>A uc010dyx.2 - 7 1186 c.1186G>T c.(1186-1188)GGC>TGC p.G396C FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.G376C|FBXW9_uc002mun.1_Missense_Mutation_p.G213C NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 406 WD 5. protein binding ovary(1) 1 TGGAAGCAGCCGTTGCGGTTG 0.657 23 64 --- --- --- --- PASS CC2D1A 54862 broad.mit.edu 37 19 14023230 14023230 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:14023230G>C uc002mxo.2 + 3 590 c.291G>C c.(289-291)TTG>TTC p.L97F CC2D1A_uc002mxn.2_Intron|CC2D1A_uc002mxp.2_Missense_Mutation_p.L97F|CC2D1A_uc010dzh.2_5'Flank NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 97 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AGGACGACTTGGAGGCTGATG 0.627 9 23 --- --- --- --- PASS CYP4F8 11283 broad.mit.edu 37 19 15726522 15726522 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:15726522C>T uc002nbi.2 + 2 159 c.95C>T c.(94-96)GCC>GTC p.A32V CYP4F8_uc010xoi.1_Missense_Mutation_p.A32V|CYP4F8_uc010xoj.1_5'UTR NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 32 Helical; (Potential). prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 TGGCTCCTGGCCCGCATCCTG 0.672 24 43 --- --- --- --- PASS NR2F6 2063 broad.mit.edu 37 19 17355849 17355849 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:17355849C>G uc002nfq.2 - 1 303 c.181G>C c.(181-183)GAC>CAC p.D61H NM_005234 NP_005225 P10588 NR2F6_HUMAN nuclear receptor subfamily 2, group F, member 6 61 Nuclear receptor.|NR C4-type. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding 0 CTCGACTTGTCCCCGCACACC 0.692 4 12 --- --- --- --- PASS ANKLE1 126549 broad.mit.edu 37 19 17396327 17396327 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:17396327C>A uc002nga.2 + 7 1740 c.1464C>A c.(1462-1464)GGC>GGA p.G488G ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Silent_p.G484G|ANKLE1_uc010xpn.1_Silent_p.G516G|ANKLE1_uc002nfy.2_Silent_p.G451G|ANKLE1_uc002nfz.2_Silent_p.G194G NM_152363 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat domain 41 488 nuclear envelope 0 TCTACGTGGGCAAAGGGACGA 0.612 40 175 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17756582 17756582 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:17756582C>A uc002nhd.2 - 19 2521 c.2521G>T c.(2521-2523)GTG>TTG p.V841L NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 753 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CTCTGTTTCACGCGGGATTTG 0.587 10 20 --- --- --- --- PASS GDF1 2657 broad.mit.edu 37 19 18989838 18989838 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:18989838G>T uc002nki.1 - 6 983 c.911C>A c.(910-912)GCG>GAG p.A304E LASS1_uc002nkj.2_Missense_Mutation_p.A304E|LASS1_uc010ebx.2_Missense_Mutation_p.A206E NM_021267 NP_067090 P27539 GDF1_HUMAN LAG1 homolog, ceramide synthase 1 isoform 1 Error:Variant_position_missing_in_P27539_after_alignment growth extracellular space cytokine activity|growth factor activity 0 GGCTGCAAACGCCACGATGTA 0.642 20 22 --- --- --- --- PASS HAPLN4 404037 broad.mit.edu 37 19 19369365 19369365 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:19369365A>G uc002nmb.2 - 4 839 c.784T>C c.(784-786)TAC>CAC p.Y262H HAPLN4_uc002nmc.2_Missense_Mutation_p.Y262H NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 262 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) AAGGCGTCGTAGCGTTCCTCG 0.692 20 41 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30935560 30935560 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:30935560T>A uc002nsu.1 + 2 1229 c.1091T>A c.(1090-1092)ATG>AAG p.M364K ZNF536_uc010edd.1_Missense_Mutation_p.M364K NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 364 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AAGGGTCACATGCGCAAGCAC 0.627 58 139 --- --- --- --- PASS ZNF527 84503 broad.mit.edu 37 19 37879573 37879573 + Nonsense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:37879573G>T uc010efk.1 + 5 733 c.622G>T c.(622-624)GAA>TAA p.E208* ZNF527_uc002ogf.3_Nonsense_Mutation_p.E176*|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGTCATAATTGAATATAAAAG 0.323 14 102 --- --- --- --- PASS ITPKC 80271 broad.mit.edu 37 19 41231345 41231345 + Splice_Site SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:41231345G>T uc002oot.2 + 2 1288 c.1255_splice c.e2+1 p.G419_splice NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGACATGCTGGTAAGTGGGGT 0.428 55 80 --- --- --- --- PASS ZFP112 7771 broad.mit.edu 37 19 44832207 44832207 + Nonsense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:44832207G>T uc010ejj.2 - 5 2234 c.2121C>A c.(2119-2121)TAC>TAA p.Y707* ZFP112_uc002ozc.3_Nonsense_Mutation_p.Y701*|ZFP112_uc010xwy.1_Nonsense_Mutation_p.Y724*|ZFP112_uc010xwz.1_Nonsense_Mutation_p.Y706* NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 707 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 GACTCTGAAGGTATGATCTCT 0.458 16 112 --- --- --- --- PASS GEMIN7 79760 broad.mit.edu 37 19 45593723 45593723 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:45593723G>T uc002pap.1 + 3 502 c.351G>T c.(349-351)GCG>GCT p.A117A uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Silent_p.A117A|GEMIN7_uc002par.1_Silent_p.A117A NM_001007270 NP_001007271 Q9H840 GEMI7_HUMAN gemin 7 117 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) AAGCAGAGGCGCTGCTCCGAT 0.527 24 55 --- --- --- --- PASS RSPH6A 81492 broad.mit.edu 37 19 46307718 46307718 + Missense_Mutation SNP C G G rs139803225 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:46307718C>G uc002pdm.2 - 3 1588 c.1445G>C c.(1444-1446)CGG>CCG p.R482P RSPH6A_uc002pdl.2_Missense_Mutation_p.R218P NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 482 intracellular ovary(1)|central_nervous_system(1) 2 TATCTGGGCCCGCAGGTAGTT 0.622 14 33 --- --- --- --- PASS SLC1A5 6510 broad.mit.edu 37 19 47285696 47285696 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:47285696G>T uc002pfs.2 - 4 1388 c.768C>A c.(766-768)ATC>ATA p.I256I SLC1A5_uc010xyh.1_Silent_p.I54I|SLC1A5_uc002pfq.2_Silent_p.I80I|SLC1A5_uc002pfr.2_Silent_p.I28I NM_005628 NP_005619 Q15758 AAAT_HUMAN solute carrier family 1 member 5 isoform 1 256 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity 0 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TGAAGAAGCGGATAAGCAGCT 0.602 60 118 --- --- --- --- PASS MYH14 79784 broad.mit.edu 37 19 50785099 50785099 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:50785099G>T uc002prr.1 + 31 4463 c.4416G>T c.(4414-4416)CAG>CAT p.Q1472H MYH14_uc010enu.1_Missense_Mutation_p.Q1513H|MYH14_uc002prq.1_Missense_Mutation_p.Q1480H|MYH14_uc010ycb.1_Intron|MYH14_uc002prs.1_5'Flank NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1472 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) AGTTTGACCAGGTGGGGCACC 0.617 6 23 --- --- --- --- PASS ACPT 93650 broad.mit.edu 37 19 51295012 51295012 + Missense_Mutation SNP C A A rs149222498 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:51295012C>A uc002pta.1 + 4 403 c.403C>A c.(403-405)CGC>AGC p.R135S NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 135 Extracellular (Potential). integral to membrane acid phosphatase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCCCGAGGCCCGCTGGAGGCC 0.692 8 12 --- --- --- --- PASS ZNF808 388558 broad.mit.edu 37 19 53058070 53058070 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:53058070G>T uc010epq.1 + 5 2078 c.1901G>T c.(1900-1902)TGG>TTG p.W634L ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 634 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GCTTTCACGTGGAATTCACAG 0.403 22 51 --- --- --- --- PASS ZNF808 388558 broad.mit.edu 37 19 53058071 53058071 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:53058071G>T uc010epq.1 + 5 2079 c.1902G>T c.(1900-1902)TGG>TGT p.W634C ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 634 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CTTTCACGTGGAATTCACAGC 0.398 22 50 --- --- --- --- PASS ZNF415 55786 broad.mit.edu 37 19 53612393 53612393 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:53612393C>A uc002qax.2 - 7 1398 c.1049G>T c.(1048-1050)TGT>TTT p.C350F ZNF415_uc002qat.2_Missense_Mutation_p.C314F|ZNF415_uc002qaw.2_Missense_Mutation_p.C302F|ZNF415_uc010yds.1_Missense_Mutation_p.C302F|ZNF415_uc010ydt.1_Missense_Mutation_p.C302F|ZNF415_uc002qau.2_Missense_Mutation_p.C289F|ZNF415_uc002qav.2_Missense_Mutation_p.C314F|ZNF415_uc002qba.2_Missense_Mutation_p.C72F|ZNF415_uc002qay.2_Missense_Mutation_p.C289F|ZNF415_uc002qaz.2_Missense_Mutation_p.C350F NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 350 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) ACACTCATAACATTTGTAAGG 0.403 8 76 --- --- --- --- PASS ZNF813 126017 broad.mit.edu 37 19 53995112 53995112 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:53995112T>G uc002qbu.2 + 4 1754 c.1626T>G c.(1624-1626)CAT>CAG p.H542Q ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 542 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CACATCATCATAGACTTCATA 0.383 4 44 --- --- --- --- PASS ZNF331 55422 broad.mit.edu 37 19 54080374 54080374 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:54080374A>G uc002qbx.1 + 7 1994 c.560A>G c.(559-561)TAC>TGC p.Y187C ZNF331_uc002qby.1_Missense_Mutation_p.Y187C|ZNF331_uc002qbz.1_Missense_Mutation_p.Y187C|ZNF331_uc002qca.1_Missense_Mutation_p.Y187C|ZNF331_uc010eqr.1_Missense_Mutation_p.Y187C|ZNF331_uc002qcb.1_Missense_Mutation_p.Y187C|ZNF331_uc002qcc.1_Missense_Mutation_p.Y187C|ZNF331_uc002qcd.1_Missense_Mutation_p.Y187C NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 187 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) GAGAAGCCCTACGAATGTAAA 0.418 T ? follicular thyroid adenoma 41 79 --- --- --- --- PASS LILRB3 11025 broad.mit.edu 37 19 54720984 54720984 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:54720984T>C uc002qef.1 - 13 1985 c.1874A>G c.(1873-1875)TAC>TGC p.Y625C LILRB3_uc002qee.1_Missense_Mutation_p.Y626C|LILRB3_uc002qeh.1_Missense_Mutation_p.Y625C|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.Y625C|LILRA6_uc002qek.1_Missense_Mutation_p.Y626C|LILRB3_uc010erh.1_Missense_Mutation_p.Y642C|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.Y625C|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.Y626C|LILRB3_uc002qep.1_Missense_Mutation_p.Y626C|LILRB3_uc002qeq.1_Missense_Mutation_p.Y625C|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.Y626C NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 625 ITIM motif 3.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGAGTGGCGTAGATGCTGGG 0.627 7 59 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54760404 54760404 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:54760404C>A uc002qex.2 - 3 414 c.303G>T c.(301-303)GAG>GAT p.E101D LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.E101D|LILRB5_uc002qey.2_Missense_Mutation_p.E101D|LILRB5_uc002qez.2_Missense_Mutation_p.E101D|LILRB5_uc002qfa.1_Missense_Mutation_p.E91D|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 101 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGCAGGGGTCTCATAGTAGC 0.627 78 123 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55085768 55085768 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:55085768G>T uc002qgg.3 + 3 160 c.71G>T c.(70-72)GGG>GTG p.G24V LILRA2_uc010ern.2_Missense_Mutation_p.G24V|LILRA2_uc002qgf.2_Missense_Mutation_p.G24V|LILRA2_uc010yfe.1_Missense_Mutation_p.G24V|LILRA2_uc010yff.1_Missense_Mutation_p.G12V|LILRA2_uc010ero.2_Missense_Mutation_p.G12V|LILRA2_uc010yfg.1_Missense_Mutation_p.G24V NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 24 Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) TTCCTTCCAGGGCACCTCCCC 0.597 17 137 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086322 55086322 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:55086322A>G uc002qgg.3 + 4 566 c.477A>G c.(475-477)GAA>GAG p.E159E LILRA2_uc010ern.2_Silent_p.E159E|LILRA2_uc002qgf.2_Silent_p.E159E|LILRA2_uc010yfe.1_Silent_p.E159E|LILRA2_uc010yff.1_Silent_p.E147E|LILRA2_uc010ero.2_Silent_p.E147E|LILRA2_uc010yfg.1_Silent_p.E159E NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 159 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) AGGAAGGAGAAGATGAACACC 0.602 43 88 --- --- --- --- PASS EPN1 29924 broad.mit.edu 37 19 56206164 56206164 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:56206164G>T uc002qlw.2 + 10 1679 c.1337G>T c.(1336-1338)GGA>GTA p.G446V EPN1_uc002qlv.2_Missense_Mutation_p.G420V|EPN1_uc010etd.2_Missense_Mutation_p.G445V|EPN1_uc002qlx.2_Missense_Mutation_p.G532V NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 446 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GGGGTCAGGGGATCTCTGGCT 0.677 4 9 --- --- --- --- PASS ZNF470 388566 broad.mit.edu 37 19 57089731 57089731 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:57089731G>C uc002qnl.3 + 6 2610 c.1934G>C c.(1933-1935)GGA>GCA p.G645A ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ATTCATACAGGAGAGAAACCT 0.418 33 32 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57325205 57325205 + Silent SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:57325205A>T uc002qnu.2 - 7 4956 c.4605T>A c.(4603-4605)CCT>CCA p.P1535P 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_Silent_p.P1506P|PEG3_uc002qnv.2_Silent_p.P1535P|PEG3_uc002qnw.2_Silent_p.P1411P|PEG3_uc002qnx.2_Silent_p.P1409P|PEG3_uc010etr.2_Silent_p.P1535P NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1535 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) AGGCATTTGCAGGCTCAAATA 0.478 4 129 --- --- --- --- PASS ZNF17 7565 broad.mit.edu 37 19 57931891 57931891 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:57931891C>A uc002qoo.1 + 3 1262 c.1031C>A c.(1030-1032)GCA>GAA p.A344E ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.A346E NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TACAGTTCAGCACTCATTAGA 0.413 4 115 --- --- --- --- PASS ZNF324B 388569 broad.mit.edu 37 19 58967702 58967702 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:58967702A>G uc002qsv.1 + 4 1498 c.1391A>G c.(1390-1392)AAG>AGG p.K464R ZNF324B_uc002qsu.1_Missense_Mutation_p.K454R|ZNF324B_uc010euq.1_Missense_Mutation_p.K464R NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 464 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GGTTTCGCCAAGGGCGCCGTG 0.692 14 79 --- --- --- --- PASS TRIB3 57761 broad.mit.edu 37 20 377279 377279 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:377279G>T uc002wdm.2 + 4 1528 c.1022G>T c.(1021-1023)GGG>GTG p.G341V TRIB3_uc002wdn.2_Missense_Mutation_p.G368V NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 341 apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GATGGACTGGGGCTGGACGAA 0.612 34 74 --- --- --- --- PASS SNRPB 6628 broad.mit.edu 37 20 2446372 2446372 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:2446372C>G uc002wfz.1 - 3 412 c.249G>C c.(247-249)GAG>GAC p.E83D SNRPB_uc002wga.1_Missense_Mutation_p.E83D|SNRPB_uc010zpv.1_Missense_Mutation_p.E4D|SNRPB_uc002wgb.2_Missense_Mutation_p.E83D|SNORD119_uc010gam.1_5'Flank NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 83 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 GAGGAGGTCCCTCTACTGTCA 0.423 40 95 --- --- --- --- PASS CPXM1 56265 broad.mit.edu 37 20 2776343 2776343 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:2776343A>T uc002wgu.2 - 11 1686 c.1622T>A c.(1621-1623)CTG>CAG p.L541Q CPXM1_uc010gas.2_Intron NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 541 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 CTGCATGGCCAGATTACTGCC 0.632 14 60 --- --- --- --- PASS SLC24A3 57419 broad.mit.edu 37 20 19665875 19665875 + Silent SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:19665875A>T uc002wrl.2 + 12 1391 c.1194A>T c.(1192-1194)ACA>ACT p.T398T NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 398 Cytoplasmic (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 TGAATGGGACACGGAGGGACG 0.408 18 53 --- --- --- --- PASS ACSS1 84532 broad.mit.edu 37 20 25002053 25002053 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:25002053A>G uc002wub.2 - 6 1958 c.1080T>C c.(1078-1080)TTT>TTC p.F360F ACSS1_uc002wuc.2_Silent_p.F360F|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Silent_p.F277F NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 360 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGGTGCTCTCAAAAAGGACGC 0.562 18 41 --- --- --- --- PASS DEFB118 117285 broad.mit.edu 37 20 29956507 29956507 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:29956507C>T uc002wvr.2 + 1 80 c.54C>T c.(52-54)ATC>ATT p.I18I NM_054112 NP_473453 Q96PH6 DB118_HUMAN beta-defensin 118 precursor 18 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region ovary(3)|pancreas(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCCAAGTGATCCCAGGTAATC 0.498 26 78 --- --- --- --- PASS GSS 2937 broad.mit.edu 37 20 33517381 33517381 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:33517381T>C uc002xbg.2 - 12 1204 c.1124A>G c.(1123-1125)TAT>TGT p.Y375C GSS_uc010zun.1_Missense_Mutation_p.Y247C|GSS_uc010zuo.1_Missense_Mutation_p.Y264C|GSS_uc010zup.1_Missense_Mutation_p.Y306C|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Missense_Mutation_p.Y105C NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 375 ATP. nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TTCCTCCCCATATAGGTTGTT 0.537 74 218 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35467803 35467803 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:35467803C>A uc002xgd.1 - 2 342 c.15G>T c.(13-15)CGG>CGT p.R5R NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 5 0 Myeloproliferative disorder(115;0.00874) TATAGACGTCCCGCATCTCCA 0.632 24 40 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37169808 37169808 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:37169808A>T uc002xiw.2 + 18 2944 c.2687A>T c.(2686-2688)AAG>ATG p.K896M RALGAPB_uc002xix.2_Missense_Mutation_p.K892M|RALGAPB_uc002xiy.1_Missense_Mutation_p.K896M|RALGAPB_uc002xiz.2_Missense_Mutation_p.K674M|RALGAPB_uc002xja.1_Missense_Mutation_p.K623M NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 896 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 ATGAGGGTAAAGGATGCTGCT 0.458 41 76 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37524217 37524217 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:37524217G>T uc002xje.2 + 4 520 c.331G>T c.(331-333)GAC>TAC p.D111Y PPP1R16B_uc010ggc.2_Missense_Mutation_p.D111Y NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 111 ANK 1. 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) GTGCTGCATCGACAACTTTGA 0.607 11 30 --- --- --- --- PASS ZSWIM3 140831 broad.mit.edu 37 20 44506234 44506234 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:44506234G>T uc002xqd.2 + 2 1240 c.1037G>T c.(1036-1038)AGC>ATC p.S346I ZSWIM3_uc010zxg.1_Missense_Mutation_p.S340I NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 346 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) TCTGAAGCCAGCCTGAAAAAT 0.512 56 93 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47273723 47273723 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:47273723C>A uc002xtw.1 - 18 2001 c.1978G>T c.(1978-1980)GCT>TCT p.A660S PREX1_uc002xtv.1_5'Flank NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 660 PDZ. 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) TGCAGGCCAGCCACCTGGGTA 0.567 OREG0026010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 53 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61525784 61525784 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr20:61525784G>A uc002ydr.1 - 11 2817 c.2553C>T c.(2551-2553)CTC>CTT p.L851L DIDO1_uc002yds.1_Silent_p.L851L|DIDO1_uc002ydt.1_Silent_p.L851L|DIDO1_uc002ydu.1_Silent_p.L851L NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 851 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TTTTACAGTTGAGATCGAAGA 0.502 37 95 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10934070 10934070 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr21:10934070T>A uc002yip.1 - 16 1275 c.907A>T c.(907-909)ATG>TTG p.M303L TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.M285L|TPTE_uc002yir.1_Missense_Mutation_p.M265L|TPTE_uc010gkv.1_Missense_Mutation_p.M165L NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 303 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATCAATCATGATTCTAACG 0.313 17 537 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32617976 32617976 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr21:32617976C>A uc002yow.1 - 7 1884 c.1412G>T c.(1411-1413)GGA>GTA p.G471V TIAM1_uc011adk.1_Missense_Mutation_p.G471V|TIAM1_uc011adl.1_Missense_Mutation_p.G471V|TIAM1_uc002yox.1_Missense_Mutation_p.G79V NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 471 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TAGCGTGCATCCTGAGGAAAC 0.517 15 18 --- --- --- --- PASS SETD4 54093 broad.mit.edu 37 21 37431134 37431134 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr21:37431134C>G uc002yuw.1 - 1 1426 c.53G>C c.(52-54)GGA>GCA p.G18A SETD4_uc002yux.1_5'UTR|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.G18A|SETD4_uc002yuy.2_Missense_Mutation_p.G18A|SETD4_uc002yuz.2_5'UTR|SETD4_uc002yva.2_5'UTR NM_017438 NP_059134 Q9NVD3 SETD4_HUMAN SET domain containing 4 isoform a 18 large_intestine(1)|ovary(1) 2 TTCAGAACTTCCGCAGAGTTT 0.343 42 261 --- --- --- --- PASS HLCS 3141 broad.mit.edu 37 21 38309018 38309018 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr21:38309018C>G uc010gnb.2 - 4 1928 c.727G>C c.(727-729)GTG>CTG p.V243L HLCS_uc002yvs.2_Missense_Mutation_p.V243L|HLCS_uc010gnc.1_Missense_Mutation_p.V390L NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 243 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AGGCCCAACACCTTCCCTCCC 0.522 5 49 --- --- --- --- PASS WDR4 10785 broad.mit.edu 37 21 44296822 44296822 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr21:44296822C>T uc002zci.2 - 2 218 c.145G>A c.(145-147)GAA>AAA p.E49K WDR4_uc002zck.1_Missense_Mutation_p.E49K|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Missense_Mutation_p.E49K|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR NM_033661 NP_387510 P57081 WDR4_HUMAN WD repeat domain 4 protein 49 tRNA modification cytoplasm|nucleoplasm protein binding ovary(1) 1 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) CCTTTATTTTCTTGTGACTTC 0.393 20 58 --- --- --- --- PASS ITGB2 3689 broad.mit.edu 37 21 46320303 46320303 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr21:46320303C>A uc002zgd.2 - 6 873 c.829G>T c.(829-831)GCC>TCC p.A277S ITGB2_uc002zge.2_Missense_Mutation_p.A277S|ITGB2_uc002zgf.3_Missense_Mutation_p.A277S|ITGB2_uc011afl.1_Missense_Mutation_p.A199S|ITGB2_uc010gpw.2_Missense_Mutation_p.A220S|ITGB2_uc002zgg.2_Missense_Mutation_p.A277S NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 277 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GTCAGGATGGCGCCCAGCTTC 0.627 9 55 --- --- --- --- PASS PCBP3 54039 broad.mit.edu 37 21 47350716 47350716 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr21:47350716A>T uc002zhq.1 + 11 938 c.813A>T c.(811-813)TTA>TTT p.L271F PCBP3_uc010gqb.2_Missense_Mutation_p.L271F|PCBP3_uc002zhp.1_Intron|PCBP3_uc002zhs.1_Missense_Mutation_p.L245F|PCBP3_uc002zhr.1_Missense_Mutation_p.L270F|PCBP3_uc002zht.1_Missense_Mutation_p.L261F NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 271 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) agctgcctttacactcctccg 0.164 4 43 --- --- --- --- PASS MCM3AP 8888 broad.mit.edu 37 21 47699911 47699911 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr21:47699911T>C uc002zir.1 - 4 1699 c.1663A>G c.(1663-1665)AAA>GAA p.K555E NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 555 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) TCCCACCTTTTATTCAGGAGG 0.572 8 76 --- --- --- --- PASS MICAL3 57553 broad.mit.edu 37 22 18301868 18301868 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:18301868C>A uc002zng.3 - 26 3912 c.3559G>T c.(3559-3561)GCC>TCC p.A1187S MICAL3_uc011agl.1_Missense_Mutation_p.A1103S NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1187 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TCCTGGGTGGCGGCAGGGACA 0.602 7 15 --- --- --- --- PASS DGCR8 54487 broad.mit.edu 37 22 20080404 20080404 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:20080404G>T uc002zri.2 + 8 2029 c.1679G>T c.(1678-1680)AGC>ATC p.S560I DGCR8_uc010grz.2_Intron|DGCR8_uc002zrj.2_Missense_Mutation_p.S203I NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 560 Necessary for interaction with DROSHA.|Necessary for heme-binding and pri-miRNA processing.|DRBM 1. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) ACTGCAAGCAGCAAAAAACTT 0.463 61 126 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22749622 22749622 + RNA SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:22749622C>T uc011aim.1 + 49 c.5619C>T Parts of antibodies, mostly variable regions. 0 GGAGCAGTCACCAGTGGTTAC 0.552 27 103 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26164471 26164471 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:26164471T>C uc003abz.1 + 4 838 c.588T>C c.(586-588)TCT>TCC p.S196S MYO18B_uc003aca.1_Silent_p.S77S|MYO18B_uc010guy.1_Silent_p.S77S|MYO18B_uc010guz.1_Silent_p.S77S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 196 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GGGAGACCTCTAGGACTCCTT 0.607 11 39 --- --- --- --- PASS NEFH 4744 broad.mit.edu 37 22 29885966 29885966 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:29885966C>A uc003afo.2 + 4 2408 c.2337C>A c.(2335-2337)GAC>GAA p.D779E NEFH_uc003afp.2_5'UTR NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 785 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament 0 CCCCTGCAGACAAATTCCCTG 0.562 100 76 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36684416 36684416 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:36684416C>A uc003apg.2 - 34 5045 c.4814G>T c.(4813-4815)CGC>CTC p.R1605L NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1605 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TGCCATCGAGCGCTGCTTCCT 0.617 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 28 115 --- --- --- --- PASS GRAP2 9402 broad.mit.edu 37 22 40367029 40367029 + Missense_Mutation SNP C A A rs147808667 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:40367029C>A uc003ayh.1 + 8 1197 c.934C>A c.(934-936)CGC>AGC p.R312S GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.R286S|GRAP2_uc011aon.1_Missense_Mutation_p.R246S|GRAP2_uc010gya.1_Missense_Mutation_p.R312S|GRAP2_uc011aoo.1_Missense_Mutation_p.R240S|GRAP2_uc011aop.1_Missense_Mutation_p.R272S|GRAP2_uc011aoq.1_Missense_Mutation_p.R199S|GRAP2_uc003ayj.1_Missense_Mutation_p.R312S NM_004810 NP_004801 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 312 SH3 2. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GTGGACCGGCCGCCTGCACAA 0.602 39 94 --- --- --- --- PASS SREBF2 6721 broad.mit.edu 37 22 42300914 42300914 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:42300914C>T uc003bbi.2 + 18 3310 c.3141C>T c.(3139-3141)CCC>CCT p.P1047P WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA|SREBF2_uc003bbk.2_5'Flank NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 1047 Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 GAGCCAGCCCCACCCGCACCC 0.677 3 12 --- --- --- --- PASS ALG12 79087 broad.mit.edu 37 22 50307063 50307063 + Nonsense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:50307063C>A uc003biy.2 - 3 539 c.265G>T c.(265-267)GAA>TAA p.E89* NM_024105 NP_077010 Q9BV10 ALG12_HUMAN alpha-1,6-mannosyltransferase ALG12 89 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane 0 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) TTGGACATTTCTAACAGCGAA 0.567 4 121 --- --- --- --- PASS LMF2 91289 broad.mit.edu 37 22 50943701 50943701 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr22:50943701C>T uc003blp.2 - 8 1145 c.1114G>A c.(1114-1116)GGT>AGT p.G372S LMF2_uc010hba.2_Missense_Mutation_p.G194S|LMF2_uc003blo.2_Missense_Mutation_p.G347S|NCAPH2_uc003blq.3_5'Flank|NCAPH2_uc003blv.2_5'Flank|NCAPH2_uc003blr.3_5'Flank|NCAPH2_uc010hbb.2_5'Flank|NCAPH2_uc003blu.3_5'Flank|NCAPH2_uc003bls.3_5'Flank|NCAPH2_uc003blt.3_5'Flank|NCAPH2_uc003blw.3_5'Flank|NCAPH2_uc003blx.3_5'Flank|NCAPH2_uc003bly.3_5'Flank NM_033200 NP_149977 Q9BU23 LMF2_HUMAN lipase maturation factor 2 372 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane breast(1) 1 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GAGGCCACACCCAGCCACACA 0.652 5 89 --- --- --- --- PASS STS 412 broad.mit.edu 37 X 7223186 7223186 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:7223186A>G uc004cry.3 + 7 1303 c.1058A>G c.(1057-1059)AAA>AGA p.K353R NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 353 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) GTGTCTTCCAAAGGAGAAATT 0.473 Ichthyosis 39 104 --- --- --- --- PASS TLR8 51311 broad.mit.edu 37 X 12938413 12938413 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:12938413C>T uc004cve.2 + 2 1322 c.1254C>T c.(1252-1254)TCC>TCT p.S418S TLR8_uc004cvd.2_Silent_p.S436S NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 418 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 AAAATTTCTCCAATCTGGAAA 0.353 46 147 --- --- --- --- PASS ASB11 140456 broad.mit.edu 37 X 15333585 15333585 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:15333585G>A uc004cwp.1 - 1 143 c.143C>T c.(142-144)GCG>GTG p.A48V ASB11_uc004cwo.1_5'Flank|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.A48V NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 48 intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) TATCCTAGCCGCTTCTTTTCT 0.308 11 170 --- --- --- --- PASS BEND2 139105 broad.mit.edu 37 X 18183311 18183311 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:18183311G>T uc004cyj.3 - 14 2372 c.2218C>A c.(2218-2220)CTC>ATC p.L740I NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 740 BEN 2. ovary(3)|kidney(1)|central_nervous_system(1) 5 TTTTCCGAGAGATCACAAATT 0.443 65 223 --- --- --- --- PASS SCML2 10389 broad.mit.edu 37 X 18264872 18264872 + Silent SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:18264872T>A uc004cyl.2 - 13 1804 c.1647A>T c.(1645-1647)CTA>CTT p.L549L SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Silent_p.L549L|SCML2_uc011miz.1_Silent_p.L483L|SCML2_uc010nfc.2_Silent_p.L285L NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 549 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) TTCCTGAATTTAGTGATGAGC 0.418 52 182 --- --- --- --- PASS PTCHD1 139411 broad.mit.edu 37 X 23398156 23398156 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:23398156T>A uc004dal.3 + 2 808 c.800T>A c.(799-801)GTA>GAA p.V267E PTCHD1_uc010nfu.1_Missense_Mutation_p.V267E NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 267 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 ACCAGCCGCGTATCAGAACGT 0.522 38 141 --- --- --- --- PASS PCYT1B 9468 broad.mit.edu 37 X 24625900 24625900 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:24625900G>A uc004dbi.2 - 3 529 c.296C>T c.(295-297)GCA>GTA p.A99V PCYT1B_uc004dbk.3_Missense_Mutation_p.A99V|PCYT1B_uc004dbj.2_Missense_Mutation_p.A81V NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN choline phosphate cytidylyltransferase 1 beta 99 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity 0 Choline(DB00122) CAGTGTTTTTGCTTGCATAAG 0.423 14 33 --- --- --- --- PASS TAB3 257397 broad.mit.edu 37 X 30872797 30872797 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:30872797G>T uc004dcj.2 - 6 1648 c.985C>A c.(985-987)CCA>ACA p.P329T TAB3_uc004dck.2_Missense_Mutation_p.P329T|TAB3_uc010ngl.2_Missense_Mutation_p.P329T NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 329 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 GGATGGGGTGGAGTAGTTGAA 0.478 15 85 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31525435 31525435 + Nonsense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:31525435T>A uc004dda.1 - 56 8597 c.8353A>T c.(8353-8355)AAG>TAG p.K2785* DMD_uc004dcq.1_Nonsense_Mutation_p.K56*|DMD_uc004dcr.1_Nonsense_Mutation_p.K325*|DMD_uc004dcs.1_Nonsense_Mutation_p.K325*|DMD_uc004dct.1_Nonsense_Mutation_p.K325*|DMD_uc004dcu.1_Nonsense_Mutation_p.K325*|DMD_uc004dcv.1_Nonsense_Mutation_p.K325*|DMD_uc004dcw.2_Nonsense_Mutation_p.K1441*|DMD_uc004dcx.2_Nonsense_Mutation_p.K1444*|DMD_uc004dcz.2_Nonsense_Mutation_p.K2662*|DMD_uc004dcy.1_Nonsense_Mutation_p.K2781*|DMD_uc004ddb.1_Nonsense_Mutation_p.K2777* NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2785 Spectrin 19. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCACTCCACTTGAAGTTCATG 0.398 44 106 --- --- --- --- PASS PRRG1 5638 broad.mit.edu 37 X 37312654 37312654 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:37312654C>G uc004ddn.2 + 5 690 c.437C>G c.(436-438)CCA>CGA p.P146R PRRG1_uc004ddo.2_Missense_Mutation_p.P146R NM_000950 NP_000941 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 146 Cytoplasmic (Potential). extracellular region|integral to plasma membrane calcium ion binding ovary(1)|breast(1) 2 GGATTGTCTCCAGGCTTTCTG 0.532 28 130 --- --- --- --- PASS SLC9A7 84679 broad.mit.edu 37 X 46510819 46510819 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:46510819A>G uc004dgu.1 - 9 1173 c.1165T>C c.(1165-1167)TGT>CGT p.C389R NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 389 Helical; (Potential). regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 GTGATTCCACAGAAAAGGACA 0.423 15 171 --- --- --- --- PASS PHF16 9767 broad.mit.edu 37 X 46917713 46917713 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:46917713G>T uc004dgx.2 + 11 1757 c.1706G>T c.(1705-1707)AGC>ATC p.S569I PHF16_uc004dgy.2_Missense_Mutation_p.S569I NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 569 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 TCTCCTGACAGCAGCTCATCT 0.463 11 64 --- --- --- --- PASS USP11 8237 broad.mit.edu 37 X 47100995 47100995 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:47100995A>T uc004dhp.2 + 9 1205 c.1205A>T c.(1204-1206)CAG>CTG p.Q402L USP11_uc004dhq.2_Missense_Mutation_p.Q129L NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 402 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 CATGACTCTCAGGAGCTGCTG 0.537 7 102 --- --- --- --- PASS PLP2 5355 broad.mit.edu 37 X 49029582 49029582 + Missense_Mutation SNP T G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:49029582T>G uc004dmx.2 + 2 278 c.203T>G c.(202-204)ATG>AGG p.M68R NM_002668 NP_002659 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic 68 Helical; (Potential).|MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity 0 GTTGTCTACATGTGTGACCTG 0.522 6 60 --- --- --- --- PASS CLCN5 1184 broad.mit.edu 37 X 49851292 49851292 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:49851292C>A uc004dos.1 + 8 1360 c.1112C>A c.(1111-1113)GCT>GAT p.A371D CLCN5_uc004dor.1_Missense_Mutation_p.A441D|CLCN5_uc004doq.1_Missense_Mutation_p.A441D|CLCN5_uc004dot.1_Missense_Mutation_p.A371D NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 371 Helical; (By similarity). excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) GCCATCCTGGCTTTCCCCAAT 0.502 4 77 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50089751 50089751 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:50089751T>A uc004dox.3 + 10 4053 c.3755T>A c.(3754-3756)CTC>CAC p.L1252H CCNB3_uc004doy.2_Missense_Mutation_p.L1252H|CCNB3_uc004doz.2_Missense_Mutation_p.L148H|CCNB3_uc010njq.2_Missense_Mutation_p.L144H|CCNB3_uc004dpa.2_Missense_Mutation_p.L91H NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1252 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CTGAACGTCCTCAAATGTGAC 0.443 8 59 --- --- --- --- PASS GSPT2 23708 broad.mit.edu 37 X 51487832 51487832 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:51487832G>T uc004dpl.2 + 1 1336 c.1110G>T c.(1108-1110)CTG>CTT p.L370L NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 370 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) AAGAAAAACTGGTGCCCTTTT 0.383 20 43 --- --- --- --- PASS SPANXN5 494197 broad.mit.edu 37 X 52825621 52825621 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:52825621C>A uc004drc.1 - 2 126 c.126G>T c.(124-126)AAG>AAT p.K42N NM_001009616 NP_001009616 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 42 0 Ovarian(276;0.236) ATGTTTTCATCTTTTTCAAAC 0.393 29 118 --- --- --- --- PASS XAGE3 170626 broad.mit.edu 37 X 52895512 52895512 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:52895512G>A uc004dre.2 - 3 197 c.137C>T c.(136-138)CCT>CTT p.P46L XAGE3_uc004drf.2_Missense_Mutation_p.P46L NM_130776 NP_570132 Q8WTP9 GAGD4_HUMAN XAGE-3 protein 46 0 ACCAGGTGCAGGATCCCGACT 0.483 31 95 --- --- --- --- PASS GPR173 54328 broad.mit.edu 37 X 53105956 53105956 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:53105956T>C uc004dru.2 + 2 411 c.153T>C c.(151-153)CGT>CGC p.R51R NM_018969 NP_061842 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 51 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 TCAAGGAGCGTGCCCTGCACA 0.597 8 48 --- --- --- --- PASS APEX2 27301 broad.mit.edu 37 X 55028746 55028746 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:55028746C>A uc004dtz.2 + 3 380 c.304C>A c.(304-306)CTG>ATG p.L102M APEX2_uc011mom.1_Intron NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 102 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 CCTGAGTGGCCTGTTTGCCAC 0.562 Other_BER_factors 14 50 --- --- --- --- PASS ZC4H2 55906 broad.mit.edu 37 X 64137744 64137744 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:64137744C>A uc004dvu.2 - 5 682 c.594G>T c.(592-594)CGG>CGT p.R198R ZC4H2_uc004dvv.2_Silent_p.R175R|ZC4H2_uc011mov.1_Silent_p.R175R|ZC4H2_uc011mow.1_Missense_Mutation_p.G144V|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 198 C4H2-type. metal ion binding|protein binding ovary(1) 1 TAGGTGCATTCCGGTGAATTT 0.483 20 38 --- --- --- --- PASS LAS1L 81887 broad.mit.edu 37 X 64738216 64738216 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:64738216C>A uc004dwa.1 - 12 1650 c.1578G>T c.(1576-1578)GGG>GGT p.G526G LAS1L_uc004dwc.1_Silent_p.G509G|LAS1L_uc004dwd.1_Silent_p.G467G|LAS1L_uc004dvy.1_Silent_p.G39G|LAS1L_uc004dvz.1_Silent_p.G39G NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 526 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 ATGGAGACTTCCCAATGGGGG 0.572 30 124 --- --- --- --- PASS RAB41 347517 broad.mit.edu 37 X 69502122 69502122 + Missense_Mutation SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:69502122G>A uc004dyc.2 + 1 55 c.55G>A c.(55-57)GAG>AAG p.E19K RAB41_uc010nkv.2_Missense_Mutation_p.E9K NM_001032726 NP_001027898 Q5JT25 RAB41_HUMAN RAB41, member RAS oncogene family 19 protein transport|small GTPase mediated signal transduction GTP binding ovary(2)|breast(2) 4 CTTTGGTCTGGAGGCTGCCGA 0.562 35 68 --- --- --- --- PASS TEX11 56159 broad.mit.edu 37 X 69942543 69942543 + Missense_Mutation SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:69942543A>T uc004dyl.2 - 14 1136 c.974T>A c.(973-975)GTC>GAC p.V325D TEX11_uc004dyk.2_5'UTR|TEX11_uc004dym.2_Missense_Mutation_p.V310D NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 325 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) TATTTCCATGACAGCTAACAA 0.308 11 57 --- --- --- --- PASS CXorf65 158830 broad.mit.edu 37 X 70323874 70323874 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:70323874C>A uc011mpo.1 - 6 529 c.515G>T c.(514-516)GGT>GTT p.G172V CXorf65_uc011mpp.1_Missense_Mutation_p.G124V NM_001025265 NP_001020436 A6NEN9 CX065_HUMAN hypothetical protein LOC158830 172 central_nervous_system(1) 1 GAGTTGGCGACCTTTATTCTT 0.398 20 98 --- --- --- --- PASS NONO 4841 broad.mit.edu 37 X 70511814 70511814 + Missense_Mutation SNP A C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:70511814A>C uc004dzo.2 + 5 1050 c.340A>C c.(340-342)ATC>CTC p.I114L BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.I114L|NONO_uc004dzp.2_Missense_Mutation_p.I114L|NONO_uc011mpv.1_Missense_Mutation_p.I25L|NONO_uc004dzq.2_5'Flank NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 114 DBHS.|RRM 1. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) ATTTGGCTTTATCCGCTTGGT 0.418 T TFE3 papillary renal cancer 29 139 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70597477 70597477 + Nonsense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:70597477G>T uc004dzu.3 + 6 787 c.736G>T c.(736-738)GGA>TGA p.G246* BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Nonsense_Mutation_p.G267* NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 246 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) ACGTCTTTTTGGACCAGGGAA 0.473 12 67 --- --- --- --- PASS ACRC 93953 broad.mit.edu 37 X 70830664 70830664 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:70830664C>A uc004eae.2 + 11 2246 c.1745C>A c.(1744-1746)TCT>TAT p.S582Y BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 582 nucleus ovary(3) 3 Renal(35;0.156) GTCTGCGACTCTGCAGGTGAT 0.522 3 43 --- --- --- --- PASS ERCC6L 54821 broad.mit.edu 37 X 71426086 71426086 + Missense_Mutation SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:71426086T>C uc004eaq.1 - 2 2628 c.2531A>G c.(2530-2532)CAA>CGA p.Q844R PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.Q721R NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 844 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) TGTCTCTTTTTGTACAGCTTC 0.373 47 74 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76919046 76919046 + Silent SNP T C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:76919046T>C uc004ecp.3 - 12 4177 c.3945A>G c.(3943-3945)GAA>GAG p.E1315E ATRX_uc004ecq.3_Silent_p.E1277E|ATRX_uc004eco.3_Silent_p.E1100E|ATRX_uc004ecr.2_Silent_p.E1247E NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1315 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GATTTTTTGCTTCTAAATGAA 0.338 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 12 38 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79974986 79974986 + Splice_Site SNP A T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:79974986A>T uc004edt.2 - 18 2307 c.2044_splice c.e18+1 p.A682_splice BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Splice_Site_p.A278_splice|BRWD3_uc004edp.2_Splice_Site_p.A511_splice|BRWD3_uc004edq.2_Splice_Site_p.A278_splice|BRWD3_uc010nmj.1_Splice_Site_p.A278_splice|BRWD3_uc004edr.2_Splice_Site_p.A352_splice|BRWD3_uc004eds.2_Splice_Site_p.A278_splice|BRWD3_uc004edu.2_Splice_Site_p.A352_splice|BRWD3_uc004edv.2_Splice_Site_p.A278_splice|BRWD3_uc004edw.2_Splice_Site_p.A278_splice|BRWD3_uc004edx.2_Splice_Site_p.A278_splice|BRWD3_uc004edy.2_Splice_Site_p.A278_splice|BRWD3_uc004edz.2_Splice_Site_p.A352_splice|BRWD3_uc004eea.2_Splice_Site_p.A352_splice|BRWD3_uc004eeb.2_Splice_Site_p.A278_splice NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 ovary(4) 4 AAAAATACTTACCACCATTAA 0.294 18 76 --- --- --- --- PASS ZNF711 7552 broad.mit.edu 37 X 84510642 84510642 + Missense_Mutation SNP G A A rs3747423 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:84510642G>A uc004eeo.2 + 4 804 c.457G>A c.(457-459)GAC>AAC p.D153N ZNF711_uc004eep.2_Missense_Mutation_p.D153N|ZNF711_uc004eeq.2_Missense_Mutation_p.D153N NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 153 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 TTCAGGAGTCGACTCTCCCAC 0.448 15 100 --- --- --- --- PASS CHM 1121 broad.mit.edu 37 X 85156112 85156112 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:85156112G>T uc004eet.2 - 10 1356 c.1326C>A c.(1324-1326)AAC>AAA p.N442K CHM_uc011mqz.1_Missense_Mutation_p.N294K NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 442 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) GTGAGCACATGTTCTCAGGAA 0.398 11 52 --- --- --- --- PASS CHM 1121 broad.mit.edu 37 X 85302529 85302529 + Missense_Mutation SNP T G G rs149255670 TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:85302529T>G uc004eet.2 - 1 38 c.8A>C c.(7-9)GAT>GCT p.D3A CHM_uc011mqz.1_5'UTR|CHM_uc004eeu.3_5'Flank|CHM_uc004eev.3_Missense_Mutation_p.D3A NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 3 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) AGGGAGAGTATCCGCCATCTT 0.458 7 23 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 85906066 85906066 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:85906066C>A uc004eew.2 + 4 838 c.668C>A c.(667-669)GCG>GAG p.A223E DACH2_uc004eex.2_Missense_Mutation_p.A210E|DACH2_uc010nmq.2_Missense_Mutation_p.A89E|DACH2_uc011mra.1_Missense_Mutation_p.A56E|DACH2_uc010nmr.2_Missense_Mutation_p.A4E NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 ATGGCTGAGGCGATGAAACTT 0.323 14 26 --- --- --- --- PASS KLHL4 56062 broad.mit.edu 37 X 86888805 86888805 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:86888805T>A uc004efb.2 + 8 1788 c.1606T>A c.(1606-1608)TAT>AAT p.Y536N KLHL4_uc004efa.2_Missense_Mutation_p.Y536N NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 536 Kelch 3. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TGGATGGAGCTATCTAAATAC 0.423 36 63 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177752 89177752 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:89177752C>A uc004efe.2 + 2 717 c.668C>A c.(667-669)GCA>GAA p.A223E NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CTAGTCGATGCAGCAGTACAA 0.493 32 48 --- --- --- --- PASS PABPC5 140886 broad.mit.edu 37 X 90690693 90690693 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:90690693G>T uc004efg.2 + 2 557 c.117G>T c.(115-117)AGG>AGT p.R39S PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 39 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 AGAAGTTCAGGCCTGCTGGCC 0.562 6 33 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91090873 91090873 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:91090873A>G uc004efk.1 + 1 1215 c.370A>G c.(370-372)AAG>GAG p.K124E PCDH11X_uc004efl.1_Missense_Mutation_p.K124E|PCDH11X_uc004efo.1_Missense_Mutation_p.K124E|PCDH11X_uc010nmv.1_Missense_Mutation_p.K124E|PCDH11X_uc004efm.1_Missense_Mutation_p.K124E|PCDH11X_uc004efn.1_Missense_Mutation_p.K124E|PCDH11X_uc004efh.1_Missense_Mutation_p.K124E|PCDH11X_uc004efj.1_Missense_Mutation_p.K124E NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 124 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TAGACTGGTTAAGATACGTTT 0.373 24 81 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91873434 91873434 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:91873434C>A uc004efk.1 + 7 4384 c.3539C>A c.(3538-3540)GCC>GAC p.A1180D PCDH11X_uc004efl.1_Missense_Mutation_p.A1170D|PCDH11X_uc004efo.1_Missense_Mutation_p.A1143D|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1172D|PCDH11X_uc004efn.1_Missense_Mutation_p.A1162D NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1180 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTGTCACAGGCCTCTACTCAG 0.597 59 107 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91873655 91873655 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:91873655G>C uc004efk.1 + 7 4605 c.3760G>C c.(3760-3762)GCA>CCA p.A1254P PCDH11X_uc004efl.1_Missense_Mutation_p.A1244P|PCDH11X_uc004efo.1_Missense_Mutation_p.A1217P|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1246P|PCDH11X_uc004efn.1_Missense_Mutation_p.A1236P NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1254 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ACAGGCTGCTGCAATCAGCCA 0.572 20 149 --- --- --- --- PASS TRMT2B 79979 broad.mit.edu 37 X 100273996 100273996 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:100273996C>T uc004egq.2 - 12 1651 c.1352G>A c.(1351-1353)TGC>TAC p.C451Y TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.C451Y|TRMT2B_uc004egs.2_Missense_Mutation_p.C451Y|TRMT2B_uc004egt.2_Missense_Mutation_p.C451Y|TRMT2B_uc004egu.2_Missense_Mutation_p.C332Y|TRMT2B_uc004egv.2_Missense_Mutation_p.C406Y NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 451 Nucleophile (By similarity). C -> R (in Ref. 2; CAI46112). tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 ATGGAGCTTGCAGGAAACAAA 0.313 54 107 --- --- --- --- PASS ZMAT1 84460 broad.mit.edu 37 X 101153010 101153010 + Silent SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:101153010A>G uc011mrl.1 - 5 647 c.336T>C c.(334-336)CAT>CAC p.H112H ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR NM_001011657 NP_001011657 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 1 Error:Variant_position_missing_in_A7MD47_after_alignment nucleus zinc ion binding ovary(1) 1 CTTCATACCTATGCACCTGAA 0.383 27 119 --- --- --- --- PASS MORF4L2 9643 broad.mit.edu 37 X 102931462 102931462 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:102931462C>T uc004ekw.2 - 4 1726 c.494G>A c.(493-495)TGC>TAC p.C165Y MORF4L2_uc004ela.2_Missense_Mutation_p.C165Y|MORF4L2_uc004ekx.2_Missense_Mutation_p.C165Y|MORF4L2_uc004elb.2_Missense_Mutation_p.C165Y|MORF4L2_uc004eky.2_Missense_Mutation_p.C165Y|MORF4L2_uc010nos.2_Missense_Mutation_p.C165Y|MORF4L2_uc004ekz.2_Missense_Mutation_p.C165Y|MORF4L2_uc011mry.1_Missense_Mutation_p.C165Y|MORF4L2_uc011mrz.1_Missense_Mutation_p.C165Y|MORF4L2_uc004elc.2_Missense_Mutation_p.C165Y|MORF4L2_uc004elf.2_Missense_Mutation_p.C165Y|MORF4L2_uc004ele.2_Missense_Mutation_p.C165Y|MORF4L2_uc011msa.1_Missense_Mutation_p.C165Y|MORF4L2_uc011msb.1_Missense_Mutation_p.C165Y|MORF4L2_uc011msc.1_Missense_Mutation_p.C165Y|MORF4L2_uc011msd.1_Missense_Mutation_p.C165Y|MORF4L2_uc004eld.2_Missense_Mutation_p.C165Y NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 165 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 CGATTTCTTGCAATTTGCATA 0.418 103 163 --- --- --- --- PASS GLRA4 441509 broad.mit.edu 37 X 102962291 102962291 + Missense_Mutation SNP C G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:102962291C>G uc011mse.1 - 9 1656 c.1235G>C c.(1234-1236)CGG>CCG p.R412P NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 412 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 GTAGAGTTTCCGCGTGGTTTC 0.512 18 93 --- --- --- --- PASS GLRA4 441509 broad.mit.edu 37 X 102962376 102962376 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:102962376C>T uc011mse.1 - 9 1571 c.1150G>A c.(1150-1152)GCA>ACA p.A384T NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 384 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 CCATCTCTTGCCTGCAGGCAG 0.498 17 67 --- --- --- --- PASS H2BFWT 158983 broad.mit.edu 37 X 103267933 103267933 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:103267933C>A uc004elr.2 - 1 324 c.300G>T c.(298-300)CGG>CGT p.R100R NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 100 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 TCACGGCCTCCCGGGAAAGGC 0.637 6 59 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464885 104464885 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:104464885G>T uc004ema.2 - 2 309 c.197C>A c.(196-198)GCC>GAC p.A66D IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.A66D NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 66 intracellular zinc ion binding ovary(2) 2 CCAGGTGCAGGCCTCTTTGAC 0.587 22 37 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105153578 105153578 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:105153578C>A uc004emd.2 + 13 2248 c.1945C>A c.(1945-1947)CGG>AGG p.R649R NRK_uc010npc.1_Silent_p.R317R NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 649 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 AGACTTGCTTCGGGCACCAAA 0.478 HNSCC(51;0.14) 7 27 --- --- --- --- PASS NUP62CL 54830 broad.mit.edu 37 X 106411002 106411002 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:106411002G>T uc004ena.2 - 4 330 c.71C>A c.(70-72)ACG>AAG p.T24K NUP62CL_uc004enb.2_RNA NM_017681 NP_060151 Q9H1M0 N62CL_HUMAN nucleoporin 62kDa C-terminal like 24 Thr-rich. protein transport nuclear pore structural constituent of nuclear pore 0 ggtggtagtcgtTGAAGTTGT 0.239 26 156 --- --- --- --- PASS TSC22D3 1831 broad.mit.edu 37 X 107018452 107018452 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:107018452G>T uc004enh.2 - 1 566 c.198C>A c.(196-198)AAC>AAA p.N66K TSC22D3_uc004eni.2_Missense_Mutation_p.N66K|TSC22D3_uc004enj.2_Missense_Mutation_p.N66K NM_198057 NP_932174 Q99576 T22D3_HUMAN TSC22 domain family, member 3 isoform 1 Error:Variant_position_missing_in_Q99576_after_alignment sequence-specific DNA binding transcription factor activity 0 GCATTATGCTGTTGAGCTTGT 0.572 16 111 --- --- --- --- PASS IRS4 8471 broad.mit.edu 37 X 107975873 107975873 + Silent SNP G A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:107975873G>A uc004eoc.2 - 1 3735 c.3702C>T c.(3700-3702)GAC>GAT p.D1234D NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 1234 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GAGTGTCGTCGTCGTTGTCAG 0.542 8 296 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109697270 109697270 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:109697270G>T uc004eor.1 + 3 3671 c.3425G>T c.(3424-3426)GGA>GTA p.G1142V RGAG1_uc011msr.1_Missense_Mutation_p.G1142V NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1142 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CCATCCTTCGGAATGTTGACC 0.522 32 169 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111195429 111195429 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:111195429G>C uc004epl.1 - 2 1139 c.220C>G c.(220-222)CTG>GTG p.L74V TRPC5_uc004epm.1_Missense_Mutation_p.L74V NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 74 ANK 2.|Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GCAATGAGCAGGGCACTCCGG 0.527 22 160 --- --- --- --- PASS ZCCHC16 340595 broad.mit.edu 37 X 111698772 111698772 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:111698772C>A uc004epo.1 + 3 1257 c.816C>A c.(814-816)GCC>GCA p.A272A NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 272 nucleic acid binding|zinc ion binding ovary(1) 1 CCAAACGAGCCCGCCAGCAAG 0.552 41 25 --- --- --- --- PASS LRCH2 57631 broad.mit.edu 37 X 114357364 114357364 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:114357364G>T uc010nqe.2 - 19 2090 c.2059C>A c.(2059-2061)CCA>ACA p.P687T LRCH2_uc004epz.2_Missense_Mutation_p.P670T NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) 687 CH. ovary(1) 1 ACAGAACGTGGCCTTATATGA 0.368 7 49 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118242299 118242299 + Splice_Site SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:118242299C>A uc004era.3 - 6 912 c.912_splice c.e6+1 p.E304_splice NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 ovary(4)|skin(1) 5 cactTTGTTACCTCAGTGATC 0.274 76 149 --- --- --- --- PASS LAMP2 3920 broad.mit.edu 37 X 119575625 119575625 + Silent SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:119575625C>T uc004est.3 - 8 1233 c.1053G>A c.(1051-1053)AGG>AGA p.R351R LAMP2_uc004ess.3_Silent_p.R351R|LAMP2_uc011mtz.1_Silent_p.R240R|LAMP2_uc011mua.1_Silent_p.R304R|LAMP2_uc010nqp.1_Silent_p.R351R NM_002294 NP_002285 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 isoform 351 Lumenal (Potential).|Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane ovary(1) 1 AAGGCTGAACCCTTAGATCAA 0.398 21 147 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125685490 125685490 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:125685490C>A uc004eul.2 - 1 1353 c.1102G>T c.(1102-1104)GGT>TGT p.G368C NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 368 WD 4. skin(3)|ovary(1) 4 GAGCCCTGACCGGTGCCCACA 0.632 36 35 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125685718 125685718 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:125685718C>A uc004eul.2 - 1 1125 c.874G>T c.(874-876)GGG>TGG p.G292W NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 292 WD 3. skin(3)|ovary(1) 4 AGTGCGCTCCCGGCTTTCCAC 0.612 41 61 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128692840 128692840 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:128692840C>A uc004euq.2 + 8 749 c.584C>A c.(583-585)TCT>TAT p.S195Y OCRL_uc004eur.2_Missense_Mutation_p.S195Y NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 195 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 AAAGAAGCTTCTAACAAGGAG 0.408 10 122 --- --- --- --- PASS XPNPEP2 7512 broad.mit.edu 37 X 128886218 128886218 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:128886218A>G uc004eut.1 + 10 1158 c.914A>G c.(913-915)TAC>TGC p.Y305C NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 305 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 ATCGAGGATTACAGCCAAGTT 0.493 43 122 --- --- --- --- PASS ELF4 2000 broad.mit.edu 37 X 129201404 129201404 + Silent SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:129201404C>A uc004evd.3 - 9 1669 c.1284G>T c.(1282-1284)CTG>CTT p.L428L ELF4_uc004eve.3_Silent_p.L428L NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 428 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCCATTGGTCAGCACCGTGG 0.607 T ERG AML 7 81 --- --- --- --- PASS ELF4 2000 broad.mit.edu 37 X 129203533 129203533 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:129203533G>C uc004evd.3 - 8 1314 c.929C>G c.(928-930)ACA>AGA p.T310R ELF4_uc004eve.3_Missense_Mutation_p.T310R NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 310 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGGGGCTGCTGTGGCTTCGCT 0.607 T ERG AML 11 81 --- --- --- --- PASS IGSF1 3547 broad.mit.edu 37 X 130409704 130409704 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:130409704T>A uc004ewd.2 - 16 3170 c.2932A>T c.(2932-2934)AGT>TGT p.S978C IGSF1_uc004ewe.3_Missense_Mutation_p.S972C|IGSF1_uc004ewf.2_Missense_Mutation_p.S958C NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 978 Extracellular (Potential).|Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 ACCACAGAACTGGGCTCAGCA 0.463 20 193 --- --- --- --- PASS ZNF449 203523 broad.mit.edu 37 X 134483069 134483069 + Missense_Mutation SNP C T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:134483069C>T uc004eys.2 + 3 554 c.389C>T c.(388-390)GCA>GTA p.A130V ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.2_Missense_Mutation_p.A10V NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 130 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GAAGAACTGGCACCAGTGGGA 0.478 7 269 --- --- --- --- PASS SAGE1 55511 broad.mit.edu 37 X 134990767 134990767 + Missense_Mutation SNP A G G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:134990767A>G uc004ezh.2 + 12 1599 c.1432A>G c.(1432-1434)AGG>GGG p.R478G SAGE1_uc010nry.1_Missense_Mutation_p.R447G|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 478 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AATGAGTTCCAGGGATCTGTG 0.393 55 123 --- --- --- --- PASS MAP7D3 79649 broad.mit.edu 37 X 135302935 135302935 + Missense_Mutation SNP T A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:135302935T>A uc004ezt.2 - 16 2566 c.2475A>T c.(2473-2475)GAA>GAT p.E825D MAP7D3_uc004ezs.2_Missense_Mutation_p.E789D|MAP7D3_uc011mwc.1_Missense_Mutation_p.E807D|MAP7D3_uc010nsa.1_Missense_Mutation_p.E783D NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 825 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TTGAAACTACTTCCTGTATTG 0.328 35 275 --- --- --- --- PASS MAP7D3 79649 broad.mit.edu 37 X 135309469 135309469 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:135309469G>T uc004ezt.2 - 12 2099 c.2008C>A c.(2008-2010)CAG>AAG p.Q670K MAP7D3_uc004ezs.2_Missense_Mutation_p.Q634K|MAP7D3_uc011mwc.1_Missense_Mutation_p.Q652K|MAP7D3_uc010nsa.1_Missense_Mutation_p.Q628K NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 670 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TGGTCTTCCTGATCCAGCCAT 0.453 9 100 --- --- --- --- PASS CXorf66 347487 broad.mit.edu 37 X 139038432 139038432 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:139038432C>A uc004fbb.2 - 3 731 c.709G>T c.(709-711)GCT>TCT p.A237S NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 237 Cytoplasmic (Potential). integral to membrane 0 GGAGGCTTAGCCAATTCCTGT 0.438 106 144 --- --- --- --- PASS GPR50 9248 broad.mit.edu 37 X 150348607 150348607 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:150348607C>A uc010ntg.1 + 2 687 c.552C>A c.(550-552)AAC>AAA p.N184K uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.N184K NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 184 Extracellular (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) ACTATCTGAACAACCCTGTCT 0.537 19 170 --- --- --- --- PASS GABRE 2564 broad.mit.edu 37 X 151130932 151130932 + Missense_Mutation SNP G C C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:151130932G>C uc004ffi.2 - 4 580 c.526C>G c.(526-528)CGC>GGC p.R176G GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR452_hsa-mir-452|MI0001733_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 176 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTGTAGATGCGGACCATCTGG 0.478 3 58 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151870148 151870148 + Nonsense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:151870148G>T uc004ffq.1 + 3 1032 c.838G>T c.(838-840)GAA>TAA p.E280* MAGEA6_uc004ffr.1_Nonsense_Mutation_p.E280*|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 280 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) GGCCCTCATTGAAACCAGCTA 0.537 17 235 --- --- --- --- PASS PNMA5 114824 broad.mit.edu 37 X 152159311 152159311 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:152159311G>T uc010ntw.2 - 3 1171 c.832C>A c.(832-834)CCC>ACC p.P278T PNMA5_uc004fha.3_Missense_Mutation_p.P278T|PNMA5_uc010ntx.2_Missense_Mutation_p.P278T|PNMA5_uc004fgy.3_Missense_Mutation_p.P278T NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 278 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) ACTGACAAGGGGCTCTTGTGC 0.557 11 122 --- --- --- --- PASS PLXNB3 5365 broad.mit.edu 37 X 153040421 153040421 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:153040421G>T uc004fii.2 + 24 4192 c.4018G>T c.(4018-4020)GCC>TCC p.A1340S PLXNB3_uc010nuk.2_Missense_Mutation_p.A1363S|PLXNB3_uc011mzd.1_Missense_Mutation_p.A979S|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1340 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CGCCGAGCGCGCCTTCTTCCC 0.697 9 57 --- --- --- --- PASS IRAK1 3654 broad.mit.edu 37 X 153284161 153284161 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:153284161G>T uc004fjs.1 - 5 697 c.618C>A c.(616-618)TCC>TCA p.S206S IRAK1_uc004fjr.1_Silent_p.S206S|IRAK1_uc004fjt.1_Silent_p.S206S|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Silent_p.S232S NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 206 ProST region. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGTGCCCCGGGAAATCTCAC 0.617 12 83 --- --- --- --- PASS CTAG2 30848 broad.mit.edu 37 X 153880866 153880866 + Missense_Mutation SNP C A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:153880866C>A uc004fmi.1 - 2 362 c.309G>T c.(307-309)GAG>GAT p.E103D CTAG2_uc004fmh.1_Missense_Mutation_p.E103D NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 103 centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCGGACCAGCTCCGCTTCCA 0.617 8 68 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154157610 154157610 + Silent SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:154157610G>T uc004fmt.2 - 14 4626 c.4455C>A c.(4453-4455)GCC>GCA p.A1485A NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1485 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTGAATTTGTGGCACTTGTCC 0.418 11 111 --- --- --- --- PASS FUNDC2 65991 broad.mit.edu 37 X 154261828 154261828 + Missense_Mutation SNP G T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:154261828G>T uc004fmw.2 + 2 434 c.284G>T c.(283-285)TGG>TTG p.W95L NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 95 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTCACTGGATGGTAAGTGATG 0.458 13 116 --- --- --- --- PASS MAP4 4134 broad.mit.edu 37 3 47910733 47910733 + Frame_Shift_Del DEL C - - TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr3:47910733delC uc003csb.2 - 14 3470 c.2944delG c.(2944-2946)GCAfs p.A982fs MAP4_uc003csc.3_Frame_Shift_Del_p.A982fs|MAP4_uc003crw.2_Intron|MAP4_uc003crx.2_Intron|MAP4_uc011bbe.1_Intron|MAP4_uc003cry.2_Frame_Shift_Del_p.A717fs|MAP4_uc003csa.3_Intron|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Frame_Shift_Del_p.A702fs NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 982 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGTGCACTTGCAATTGGGCCG 0.468 78 58 --- --- --- --- NDST4 64579 broad.mit.edu 37 4 115997817 115997818 + Frame_Shift_Ins INS - T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr4:115997817_115997818insT uc003ibu.2 - 2 1054_1055 c.375_376insA c.(373-378)AAAGGGfs p.K125fs NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 125_126 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) GTATATTTCCCTTTGCCATTAT 0.376 64 33 --- --- --- --- PCDHGB3 56102 broad.mit.edu 37 5 140751962 140751963 + Frame_Shift_Ins INS - T T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr5:140751962_140751963insT uc003ljw.1 + 1 2001_2002 c.2001_2002insT c.(1999-2004)AGCTTGfs p.S667fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Frame_Shift_Ins_p.S667fs|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 667_668 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCAGATAGCTTGCAAGAGAT 0.589 59 34 --- --- --- --- PRDM13 59336 broad.mit.edu 37 6 100061970 100061970 + Frame_Shift_Del DEL G - - TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr6:100061970delG uc003pqg.1 + 4 1720 c.1459delG c.(1459-1461)GGCfs p.G487fs NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) ATTGCACTTCGGCGGGCTGCT 0.657 41 18 --- --- --- --- OR4A5 81318 broad.mit.edu 37 11 51411688 51411688 + Frame_Shift_Del DEL G - - TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr11:51411688delG uc001nhi.1 - 1 708 c.708delC c.(706-708)ACCfs p.T236fs NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 236 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) CGGAGCTGCAGGTAGACAAGG 0.408 84 41 --- --- --- --- WDR72 256764 broad.mit.edu 37 15 53907719 53907719 + Frame_Shift_Del DEL A - - TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr15:53907719delA uc002acj.2 - 15 2726 c.2684delT c.(2683-2685)TTGfs p.L895fs WDR72_uc010bfi.1_Frame_Shift_Del_p.L895fs NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 895 lung(1)|skin(1) 2 all cancers(107;0.0511) TGACTCTCGCAAAGAATCACA 0.338 96 49 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1004702 1004702 + Frame_Shift_Del DEL C - - TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chr19:1004702delC uc002lqo.1 + 3 1202 c.1202delC c.(1201-1203)GCCfs p.A401fs NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 401 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCGGGAGGTGCCTCTGCACGG 0.687 11 7 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92926883 92926884 + Frame_Shift_Ins INS - A A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 5d1d538a-57d3-42ec-9fa3-0fad10b0f52f 25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1 g.chrX:92926883_92926884insA uc004efq.2 - 1 1725_1726 c.1420_1421insT c.(1420-1422)GATfs p.D474fs FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 474 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 GATGACATTATCATGTAAAATC 0.366 51 30 --- --- --- ---