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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 MST1P9 11223 broad.mit.edu 37 1 17086003 17086003 + Silent SNP G C C rs3982176 TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:17086003G>C uc010ock.1 - 7 894 c.894C>G c.(892-894)GGC>GGG p.G298G CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 CCGCCCCCCCGCCCACCTCAC 0.657 KLF17 128209 broad.mit.edu 37 1 44584644 44584644 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:44584644C>T uc001clp.2 + 1 123 c.65C>T c.(64-66)GCG>GTG p.A22V KLF17_uc009vxf.1_Intron NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 22 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) TGGCAGGCGGCGCACCAGGCT 0.577 CYP4A11 1579 broad.mit.edu 37 1 47395834 47395834 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:47395834G>A uc001cqp.3 - 12 1564 c.1513C>T c.(1513-1515)CGT>TGT p.R505C NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 505 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) CTCCTGAGACGCAGGTGGATT 0.443 ELTD1 64123 broad.mit.edu 37 1 79404873 79404873 + Missense_Mutation SNP T A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:79404873T>A uc001diq.3 - 4 552 c.396A>T c.(394-396)AAA>AAT p.K132N NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 132 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTCTACTTACTTTTGTTAAAG 0.254 BRDT 676 broad.mit.edu 37 1 92442915 92442915 + Missense_Mutation SNP G A A rs142308966 TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:92442915G>A uc001dok.3 + 6 1283 c.934G>A c.(934-936)GTT>ATT p.V312I BRDT_uc001dol.3_Missense_Mutation_p.V312I|BRDT_uc010osz.1_Missense_Mutation_p.V316I|BRDT_uc009wdf.2_Missense_Mutation_p.V239I|BRDT_uc010ota.1_Missense_Mutation_p.V266I|BRDT_uc010otb.1_Missense_Mutation_p.V266I|BRDT_uc001dom.3_Missense_Mutation_p.V312I NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 312 Bromo 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CTACTATGACGTTGTCAAAAA 0.284 MNDA 4332 broad.mit.edu 37 1 158815528 158815528 + Missense_Mutation SNP C A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:158815528C>A uc001fsz.1 + 5 922 c.722C>A c.(721-723)GCC>GAC p.A241D NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 241 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) GCTACAGTGGCCAGTAAGACT 0.403 TOMM40L 84134 broad.mit.edu 37 1 161197734 161197734 + Missense_Mutation SNP A C C rs146096318 by1000genomes TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:161197734A>C uc001fzd.2 + 6 668 c.439A>C c.(439-441)ACA>CCA p.T147P TOMM40L_uc010pkk.1_RNA|TOMM40L_uc010pkl.1_Missense_Mutation_p.T113P|TOMM40L_uc009wue.2_Missense_Mutation_p.T29P|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.T147P NM_032174 NP_115550 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 147 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(1) 1 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGATGACTACACAGCCACTCT 0.522 OREG0013943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ASPM 259266 broad.mit.edu 37 1 197060162 197060162 + Nonsense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:197060162G>A uc001gtu.2 - 23 9711 c.9454C>T c.(9454-9456)CGA>TGA p.R3152* ASPM_uc001gtv.2_Nonsense_Mutation_p.R1567*|ASPM_uc001gtw.3_Nonsense_Mutation_p.R1000* NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3152 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AATCTTGCTCGAAACCATCTC 0.289 LHX9 56956 broad.mit.edu 37 1 197890610 197890610 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr1:197890610C>T uc001guk.1 + 3 991 c.554C>T c.(553-555)GCC>GTC p.A185V LHX9_uc001gui.1_Missense_Mutation_p.A176V|LHX9_uc001guj.1_Missense_Mutation_p.A191V NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 185 LIM zinc-binding 2. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TACTGCCGCGCCCACTTCGAG 0.607 ITGA8 8516 broad.mit.edu 37 10 15649777 15649777 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr10:15649777G>A uc001ioc.1 - 17 1663 c.1663C>T c.(1663-1665)CGG>TGG p.R555W ITGA8_uc010qcb.1_Missense_Mutation_p.R540W NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 555 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AAGAGCGTCCGTTTAATAGCT 0.433 PTEN 5728 broad.mit.edu 37 10 89720650 89720650 + Splice_Site SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr10:89720650G>A uc001kfb.2 + 9 1833 c.802_splice c.e9-1 p.D268_splice NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) tttttttttAGGACAAAATGT 0.239 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) TRIM21 6737 broad.mit.edu 37 11 4406616 4406616 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr11:4406616G>A uc001lyy.1 - 7 1440 c.1327C>T c.(1327-1329)CGG>TGG p.R443W NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 443 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) AAGAAGGGCCGCAGAGGTCCT 0.488 OR52E4 390081 broad.mit.edu 37 11 5906308 5906308 + Silent SNP A T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr11:5906308A>T uc010qzs.1 + 1 786 c.786A>T c.(784-786)ACA>ACT p.T262T TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTTTATGACACATCGTTTTG 0.423 BTBD10 84280 broad.mit.edu 37 11 13441120 13441120 + Silent SNP T C C TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr11:13441120T>C uc001mkz.2 - 4 728 c.471A>G c.(469-471)AAA>AAG p.K157K BTBD10_uc010rcl.1_Silent_p.K165K|BTBD10_uc001mla.2_Silent_p.K141K|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.K109K|BTBD10_uc010rcn.1_Silent_p.K126K|BTBD10_uc009ygo.2_Silent_p.K109K NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 157 nucleus 0 Epithelial(150;0.0214) GAGCTCCTTCTTTTGCATTTT 0.418 MMP7 4316 broad.mit.edu 37 11 102398591 102398591 + Missense_Mutation SNP C T T rs145006821 by1000genomes TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr11:102398591C>T uc001phb.2 - 2 279 c.232G>A c.(232-234)GTC>ATC p.V78I MMP7_uc009yxd.2_Missense_Mutation_p.V78I|MMP7_uc010rus.1_Missense_Mutation_p.V78I NM_002423 NP_002414 P09237 MMP7_HUMAN matrix metalloproteinase 7 preproprotein 78 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(1) 1 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) ATTTCTATGACGCGGGAGTTT 0.408 TEAD4 7004 broad.mit.edu 37 12 3121377 3121377 + Silent SNP C T T rs112112805 TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr12:3121377C>T uc010sej.1 + 5 607 c.330C>T c.(328-330)CGC>CGT p.R110R TEAD4_uc010sek.1_Silent_p.R110R|TEAD4_uc001qln.2_5'UTR NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 111 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GCAAAGCTCGCGAGATCCAGG 0.597 PLEKHA5 54477 broad.mit.edu 37 12 19436297 19436297 + Missense_Mutation SNP C G G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr12:19436297C>G uc001reb.2 + 11 1465 c.1379C>G c.(1378-1380)ACA>AGA p.T460R PLEKHA5_uc010sie.1_Missense_Mutation_p.T466R|PLEKHA5_uc001rea.2_Missense_Mutation_p.T460R|PLEKHA5_uc009zin.2_Missense_Mutation_p.T218R|PLEKHA5_uc010sif.1_Missense_Mutation_p.T352R|PLEKHA5_uc010sig.1_Missense_Mutation_p.T352R|PLEKHA5_uc010sih.1_Missense_Mutation_p.T352R|PLEKHA5_uc001rec.1_Missense_Mutation_p.T148R NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 460 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GGTTATAGAACACTCCCAAGA 0.438 CYP27B1 1594 broad.mit.edu 37 12 58158677 58158677 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr12:58158677C>T uc001spz.1 - 5 975 c.823G>A c.(823-825)GCA>ACA p.A275T CYP27B1_uc001sqa.1_Missense_Mutation_p.A40T|CYP27B1_uc001sqb.1_Missense_Mutation_p.G155D|CYP27B1_uc001sqc.1_Missense_Mutation_p.G155D NM_000785 NP_000776 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, 275 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3) 3 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CTCATGGCTGCCTCTGCCTCT 0.617 ATP8A2 51761 broad.mit.edu 37 13 26343355 26343355 + Silent SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr13:26343355C>T uc001uqk.2 + 26 2698 c.2556C>T c.(2554-2556)TAC>TAT p.Y852Y ATP8A2_uc010tdi.1_Silent_p.Y812Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.Y402Y NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 812 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACTCGGATTACGCCATCGCAC 0.582 SFRS5 6430 broad.mit.edu 37 14 70234973 70234973 + Missense_Mutation SNP G T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr14:70234973G>T uc001xll.2 + 3 1551 c.100G>T c.(100-102)GAT>TAT p.D34Y SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.D34Y|SFRS5_uc001xlo.2_Missense_Mutation_p.D34Y|SFRS5_uc001xlp.2_Missense_Mutation_p.D34Y|SFRS5_uc001xlq.2_Missense_Mutation_p.D34Y NM_006925 NP_008856 Q13243 SRSF5_HUMAN splicing factor, arginine/serine-rich 5 34 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding 0 all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154) AAGAGATATTGATCTGAAAAG 0.428 SEMA6D 80031 broad.mit.edu 37 15 48053911 48053911 + Silent SNP A G G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr15:48053911A>G uc010bek.2 + 7 861 c.501A>G c.(499-501)CCA>CCG p.P167P SEMA6D_uc001zvw.2_Silent_p.P167P|SEMA6D_uc001zvx.1_Silent_p.P167P|SEMA6D_uc001zvy.2_Silent_p.P167P|SEMA6D_uc001zvz.2_Silent_p.P167P|SEMA6D_uc001zwa.2_Silent_p.P167P|SEMA6D_uc001zwb.2_Silent_p.P167P|SEMA6D_uc001zwc.2_Silent_p.P167P NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 167 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CAAGATGCCCATTTGATGCCA 0.373 CSNK1G1 53944 broad.mit.edu 37 15 64472574 64472574 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr15:64472574G>A uc002anf.2 - 11 1667 c.1187C>T c.(1186-1188)GCC>GTC p.A396V CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.A396V|CSNK1G1_uc002anh.1_Missense_Mutation_p.A433V NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 396 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 CTCCACCTCGGCATGAGCTGT 0.483 ATXN2L 11273 broad.mit.edu 37 16 28842292 28842292 + Missense_Mutation SNP G C C TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr16:28842292G>C uc002drc.2 + 10 1388 c.1220G>C c.(1219-1221)CGC>CCC p.R407P uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.R407P|ATXN2L_uc002drb.2_Missense_Mutation_p.R407P|ATXN2L_uc002dqy.2_Missense_Mutation_p.R407P|ATXN2L_uc002dra.2_Missense_Mutation_p.R407P|ATXN2L_uc002dqz.2_Missense_Mutation_p.R407P|ATXN2L_uc010vdb.1_Missense_Mutation_p.R407P|ATXN2L_uc002dre.2_Missense_Mutation_p.R407P|ATXN2L_uc002drf.2_Intron NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 407 membrane upper_aerodigestive_tract(1)|ovary(1) 2 GGCCCTTCCCGCATGTCCCCA 0.493 ITGAX 3687 broad.mit.edu 37 16 31383748 31383748 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr16:31383748C>T uc002ebu.1 + 18 2277 c.2210C>T c.(2209-2211)ACG>ATG p.T737M ITGAX_uc002ebt.2_Missense_Mutation_p.T737M NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 737 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTGAACTTCACGCTGGTGGGC 0.642 SPAG5 10615 broad.mit.edu 37 17 26919636 26919636 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr17:26919636G>A uc002hbq.2 - 3 718 c.626C>T c.(625-627)CCC>CTC p.P209L SGK494_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 209 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) TTCAGAACAGGGATTTGGTGG 0.483 ADAMTS10 81794 broad.mit.edu 37 19 8661947 8661947 + Missense_Mutation SNP C T T rs141147742 TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr19:8661947C>T uc002mkj.1 - 8 1238 c.964G>A c.(964-966)GTG>ATG p.V322M ADAMTS10_uc002mkk.1_Translation_Start_Site NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 322 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 CTGTGGTTCACGATGGATTTC 0.572 SLC1A6 6511 broad.mit.edu 37 19 15073138 15073138 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr19:15073138G>A uc002naa.1 - 5 619 c.611C>T c.(610-612)ACG>ATG p.T204M SLC1A6_uc010dzu.1_Missense_Mutation_p.T204M|SLC1A6_uc010xod.1_Missense_Mutation_p.T140M|SLC1A6_uc002nab.2_Missense_Mutation_p.T204M|SLC1A6_uc002nac.2_Missense_Mutation_p.T204M NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 204 Extracellular (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) TACCACCCTCGTGCTGTACTG 0.413 HIF3A 64344 broad.mit.edu 37 19 46807322 46807322 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr19:46807322G>A uc002peh.2 + 2 223 c.194G>A c.(193-195)CGC>CAC p.R65H HIF3A_uc002pef.1_Missense_Mutation_p.R65H|HIF3A_uc002peg.3_Missense_Mutation_p.R65H|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.R9H|HIF3A_uc002pej.1_Missense_Mutation_p.A45T|HIF3A_uc002pek.2_Missense_Mutation_p.R9H|HIF3A_uc010xxy.1_Missense_Mutation_p.A45T|HIF3A_uc002pel.2_Missense_Mutation_p.R63H|HIF3A_uc010xxz.1_Missense_Mutation_p.A63T NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 65 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGCTACCTGCGCATGCACCGC 0.672 SIGLEC14 100049587 broad.mit.edu 37 19 52149086 52149086 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr19:52149086G>A uc002pxf.3 - 3 769 c.649C>T c.(649-651)CGC>TGC p.R217C NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 217 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GCTCCTTGGCGTTTCACCTGA 0.642 NLRP5 126206 broad.mit.edu 37 19 56552352 56552352 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr19:56552352C>T uc002qmj.2 + 11 2851 c.2851C>T c.(2851-2853)CGG>TGG p.R951W NLRP5_uc002qmi.2_Missense_Mutation_p.R932W NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 951 LRR 8. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CGTCAGCAACCGGAGCTTGAC 0.562 PQLC3 130814 broad.mit.edu 37 2 11300636 11300636 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr2:11300636C>T uc002rbc.2 + 2 321 c.188C>T c.(187-189)CCG>CTG p.P63L PQLC3_uc010yjk.1_Missense_Mutation_p.P63L NM_152391 NP_689604 Q8N755 PQLC3_HUMAN PQ loop repeat containing 3 precursor 63 integral to membrane 0 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132) GGGTATCCGCCGCTGACCTAC 0.617 THSD7B 80731 broad.mit.edu 37 2 137814211 137814211 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr2:137814211C>T uc002tva.1 + 2 268 c.268C>T c.(268-270)CGC>TGC p.R90C THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TCCTTACGCTCGCGGTGAAGT 0.542 SCN7A 6332 broad.mit.edu 37 2 167262867 167262867 + Missense_Mutation SNP C A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr2:167262867C>A uc002udu.1 - 25 4399 c.4272G>T c.(4270-4272)ATG>ATT p.M1424I NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1424 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 AAAGACAGAGCATACTGTTGC 0.348 PLEKHA3 65977 broad.mit.edu 37 2 179365815 179365815 + Silent SNP A T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr2:179365815A>T uc002umn.2 + 7 1085 c.687A>T c.(685-687)GTA>GTT p.V229V NM_019091 NP_061964 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A 229 cytoplasm|membrane ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) AAGAACCAGTATCTACACTTC 0.378 SPATS2L 26010 broad.mit.edu 37 2 201303921 201303921 + Silent SNP A C C TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr2:201303921A>C uc002uvn.3 + 7 874 c.522A>C c.(520-522)TCA>TCC p.S174S SPATS2L_uc010fst.2_Silent_p.S174S|SPATS2L_uc002uvo.3_Silent_p.S114S|SPATS2L_uc002uvp.3_Silent_p.S174S|SPATS2L_uc002uvq.3_Intron|SPATS2L_uc002uvr.3_Silent_p.S174S|SPATS2L_uc010zhc.1_Silent_p.S204S NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 174 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 CAGAGAGGTCAGATGGCCTAC 0.448 UGT1A6 54578 broad.mit.edu 37 2 234602327 234602327 + Missense_Mutation SNP T G G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr2:234602327T>G uc002vuv.3 + 1 816 c.677T>G c.(676-678)TTT>TGT p.F226C UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.F226C NM_001072 NP_001063 P19224 UD16_HUMAN UDP glycosyltransferase 1 family, polypeptide A6 226 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity 0 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) TATTGTCTGTTTTCAAAGTAT 0.398 PER2 8864 broad.mit.edu 37 2 239157720 239157720 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr2:239157720C>T uc002vyc.2 - 22 3838 c.3601G>A c.(3601-3603)GCA>ACA p.A1201T PER2_uc010znv.1_Missense_Mutation_p.A1201T NM_022817 NP_073728 O15055 PER2_HUMAN period 2 1201 CRY binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TCGATGGCTGCGGGCAGGCCG 0.493 SEL1L2 80343 broad.mit.edu 37 20 13830889 13830889 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr20:13830889G>A uc010gcf.2 - 19 1977 c.1895C>T c.(1894-1896)GCC>GTC p.A632V SEL1L2_uc002woq.3_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.1_Missense_Mutation_p.A519V|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 632 Extracellular (Potential). integral to membrane binding ovary(2) 2 TTTCATGACGGCAAAGAGCAC 0.458 TSHZ2 128553 broad.mit.edu 37 20 51870967 51870967 + Missense_Mutation SNP G A A rs138844500 byFrequency TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr20:51870967G>A uc002xwo.2 + 2 1926 c.970G>A c.(970-972)GTT>ATT p.V324I NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 324 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) TAAGAAACGCGTTTTTGATGT 0.458 SIM2 6493 broad.mit.edu 37 21 38092132 38092132 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr21:38092132C>T uc002yvr.2 + 4 415 c.359C>T c.(358-360)ACG>ATG p.T120M SIM2_uc002yvq.2_Missense_Mutation_p.T120M NM_005069 NP_005060 Q14190 SIM2_HUMAN single-minded homolog 2 long isoform 120 PAS 1. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 GTGGAGCTCACGGGCAACAGT 0.602 GCAT 23464 broad.mit.edu 37 22 38211153 38211153 + Silent SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr22:38211153G>A uc003atz.2 + 5 617 c.597G>A c.(595-597)GTG>GTA p.V199V GCAT_uc003aua.1_Silent_p.V225V NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 199 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGCGCCTGGTGGCCACTGATG 0.577 CLSTN2 64084 broad.mit.edu 37 3 140275468 140275468 + Silent SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr3:140275468G>A uc003etn.2 + 11 1978 c.1788G>A c.(1786-1788)GCG>GCA p.A596A CLSTN2_uc003etm.2_Silent_p.A596A NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 596 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TCCCAACGGCGGGTGTGCGGC 0.577 HNSCC(16;0.037) ZBTB38 253461 broad.mit.edu 37 3 141163945 141163945 + Silent SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr3:141163945C>T uc003etw.2 + 8 3697 c.2715C>T c.(2713-2715)GAC>GAT p.D905D ZBTB38_uc010hun.2_Silent_p.D902D|ZBTB38_uc010huo.2_Silent_p.D905D|ZBTB38_uc003ety.2_Silent_p.D905D|ZBTB38_uc010hup.2_Silent_p.D906D NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 905 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TGTTCGATGACGCAAGTGACC 0.498 GRK7 131890 broad.mit.edu 37 3 141499458 141499458 + Silent SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr3:141499458G>A uc011bnd.1 + 2 939 c.855G>A c.(853-855)ACG>ACA p.T285T NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 285 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 ACGTGGGCACGCGTGGCCTGG 0.557 TPRG1 285386 broad.mit.edu 37 3 189038544 189038544 + Missense_Mutation SNP A T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr3:189038544A>T uc003frv.1 + 11 1990 c.763A>T c.(763-765)ATG>TTG p.M255L TPRG1_uc003frw.1_Missense_Mutation_p.M255L NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 255 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CACAGGGCTGATGTCATTCAT 0.433 GAK 2580 broad.mit.edu 37 4 860238 860238 + Missense_Mutation SNP T C C TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr4:860238T>C uc003gbm.3 - 22 3156 c.2957A>G c.(2956-2958)AAT>AGT p.N986S GAK_uc003gbn.3_Missense_Mutation_p.N907S|GAK_uc010ibi.2_Missense_Mutation_p.N167S|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.N839S NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 986 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) AGAGTCCGAATTGAGAAATTC 0.622 HTRA3 94031 broad.mit.edu 37 4 8307709 8307709 + Missense_Mutation SNP A G G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr4:8307709A>G uc003gla.2 + 9 1412 c.1208A>G c.(1207-1209)CAA>CGA p.Q403R NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 403 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 GGCGGCATCCAAGATGGTGAC 0.647 RASSF6 166824 broad.mit.edu 37 4 74477540 74477540 + Silent SNP G T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr4:74477540G>T uc003hhd.1 - 2 192 c.69C>A c.(67-69)TCC>TCA p.S23S RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 23 apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GATGGTCTGAGGATATCCTAA 0.343 FRAS1 80144 broad.mit.edu 37 4 79343100 79343100 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr4:79343100C>T uc003hlb.2 + 34 5064 c.4624C>T c.(4624-4626)CGC>TGC p.R1542C FRAS1_uc003hkw.2_Missense_Mutation_p.R1542C|FRAS1_uc010ijj.1_Intron NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1541 CSPG 4.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 AGTCATGTACCGCCCTCCCCC 0.567 AGXT2L1 64850 broad.mit.edu 37 4 109667592 109667592 + Silent SNP T C C TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr4:109667592T>C uc003hzc.2 - 11 1447 c.1266A>G c.(1264-1266)GCA>GCG p.A422A AGXT2L1_uc010imc.2_Silent_p.A416A|AGXT2L1_uc011cfm.1_Silent_p.A382A|AGXT2L1_uc011cfn.1_Silent_p.A349A|AGXT2L1_uc011cfo.1_Silent_p.A364A NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 422 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) CCATGAACTTTGCATCTTCTT 0.423 TRIO 7204 broad.mit.edu 37 5 14389446 14389446 + Missense_Mutation SNP A G G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr5:14389446A>G uc003jff.2 + 25 4003 c.3997A>G c.(3997-3999)ATT>GTT p.I1333V TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.I1284V|TRIO_uc003jfh.1_Missense_Mutation_p.I982V NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1333 DH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TCCACCTGGCATTGTAAACAA 0.408 AP3B1 8546 broad.mit.edu 37 5 77477403 77477403 + Silent SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr5:77477403C>T uc003kfj.2 - 8 995 c.870G>A c.(868-870)CCG>CCA p.P290P NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 290 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) CCATAGTATACGGCTTCTTCT 0.343 Hermansky-Pudlak_syndrome RGMB 285704 broad.mit.edu 37 5 98128833 98128833 + Silent SNP A G G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr5:98128833A>G uc003knc.2 + 5 1215 c.813A>G c.(811-813)AAA>AAG p.K271K NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN RGM domain family, member B 230 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding 0 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) CAGATCAGAAAGTCTACCAAG 0.527 PCDHA13 56136 broad.mit.edu 37 5 140263481 140263481 + Missense_Mutation SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr5:140263481C>T uc003lif.2 + 1 1628 c.1628C>T c.(1627-1629)CCG>CTG p.P543L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P543L|PCDHA13_uc003lid.2_Missense_Mutation_p.P543L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 543 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGGCGTGCCGCCTCTGGGC 0.692 PCDHGA3 56112 broad.mit.edu 37 5 140725753 140725753 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr5:140725753G>A uc003ljm.1 + 1 2153 c.2153G>A c.(2152-2154)CGC>CAC p.R718H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.R478H|PCDHGA3_uc011dap.1_Missense_Mutation_p.R718H NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 718 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCTGCGGCGCTGGCACAAG 0.677 CCDC99 54908 broad.mit.edu 37 5 169028402 169028402 + Silent SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr5:169028402G>A uc003mae.3 + 11 1722 c.1443G>A c.(1441-1443)CCG>CCA p.P481P CCDC99_uc010jjj.2_Silent_p.P410P|CCDC99_uc011deq.1_Silent_p.P298P|CCDC99_uc010jjk.2_Silent_p.P207P NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 481 cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCGATTACCGCCTCAGAAAG 0.438 ZNF323 64288 broad.mit.edu 37 6 28297413 28297413 + Silent SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr6:28297413C>T uc003nla.2 - 2 448 c.48G>A c.(46-48)GAG>GAA p.E16E ZNF323_uc003nld.2_Silent_p.E16E|ZNF323_uc010jra.2_Silent_p.E16E|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Silent_p.E16E NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 16 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TAGGGTCTTCCTCCACTTTCA 0.448 EHMT2 10919 broad.mit.edu 37 6 31856011 31856011 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr6:31856011G>A uc003nxz.1 - 13 1562 c.1552C>T c.(1552-1554)CGC>TGC p.R518C EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.R309C|EHMT2_uc011don.1_Missense_Mutation_p.R541C|EHMT2_uc003nya.1_Missense_Mutation_p.R484C NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 518 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 TTGTGGAAGCGGTGGGCCACA 0.622 SLC26A8 116369 broad.mit.edu 37 6 35980127 35980127 + Nonsense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr6:35980127G>A uc003olm.2 - 3 322 c.211C>T c.(211-213)CGA>TGA p.R71* SLC26A8_uc003oln.2_Nonsense_Mutation_p.R71*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.R71* NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 71 Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 AGCACGCATCGTAGGAACCTG 0.468 RAPGEF5 9771 broad.mit.edu 37 7 22202112 22202112 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr7:22202112G>A uc003svg.2 - 13 1185 c.872C>T c.(871-873)CCG>CTG p.P291L RAPGEF5_uc011jyl.1_5'UTR NM_012294 NP_036426 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 141 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity ovary(1) 1 TTTCCTACGCGGAACGTCTGA 0.343 ANLN 54443 broad.mit.edu 37 7 36478889 36478889 + Missense_Mutation SNP G C C TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr7:36478889G>C uc003tff.2 + 21 3164 c.2960G>C c.(2959-2961)AGA>ACA p.R987T ANLN_uc011kaz.1_Missense_Mutation_p.R899T|ANLN_uc003tfg.2_Missense_Mutation_p.R950T|ANLN_uc010kxe.2_Missense_Mutation_p.R949T NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 987 PH.|Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 GTTGAAGAAAGAGGTTTTCTA 0.303 TNS3 64759 broad.mit.edu 37 7 47336762 47336762 + Silent SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr7:47336762G>A uc003tnv.2 - 24 3961 c.3594C>T c.(3592-3594)GAC>GAT p.D1198D TNS3_uc003tnw.2_Silent_p.D1198D NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 1198 SH2. focal adhesion protein binding ovary(4) 4 AGGAATGGCTGTCTCGAACAA 0.567 PCLO 27445 broad.mit.edu 37 7 82764222 82764222 + Nonsense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr7:82764222G>A uc003uhx.2 - 3 2933 c.2644C>T c.(2644-2646)CGA>TGA p.R882* PCLO_uc003uhv.2_Nonsense_Mutation_p.R882* NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 828 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCGGTAGGTCGTGGGCCAGGG 0.517 MUC17 140453 broad.mit.edu 37 7 100674926 100674926 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr7:100674926G>A uc003uxp.1 + 3 282 c.229G>A c.(229-231)GTG>ATG p.V77M MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 77 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TACAAATGTCGTGGAGCCAAG 0.448 ASB10 136371 broad.mit.edu 37 7 150878052 150878052 + Missense_Mutation SNP G A A rs104886484 TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr7:150878052G>A uc003wjm.1 - 3 1339 c.1213C>T c.(1213-1215)CGT>TGT p.R405C ASB10_uc003wjl.1_Missense_Mutation_p.R405C|ASB10_uc003wjn.1_Missense_Mutation_p.R345C NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 360 ANK 7. intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCCAGACACGGACGGCGCCA 0.701 MLL3 58508 broad.mit.edu 37 7 151921652 151921652 + Missense_Mutation SNP A C C TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr7:151921652A>C uc003wla.2 - 19 3245 c.3026T>G c.(3025-3027)GTG>GGG p.V1009G MLL3_uc003wkz.2_Missense_Mutation_p.V70G NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1009 PHD-type 5.|PHD-type 4. 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) GGCCTCACACACAGTGCACTC 0.448 N medulloblastoma NFIB 4781 broad.mit.edu 37 9 14307176 14307176 + Missense_Mutation SNP T C C TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr9:14307176T>C uc003zle.2 - 2 809 c.374A>G c.(373-375)GAC>GGC p.D125G NFIB_uc003zlf.2_Missense_Mutation_p.D125G|NFIB_uc011lmo.1_Missense_Mutation_p.D125G NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 125 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) CCAGACTTTGTCTGCCTGTCG 0.522 T MYB|HGMA2 adenoid cystic carcinoma|lipoma FAM75A6 389730 broad.mit.edu 37 9 43627272 43627272 + Missense_Mutation SNP A G G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr9:43627272A>G uc011lrb.1 - 4 1444 c.1415T>C c.(1414-1416)CTG>CCG p.L472P NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 472 integral to membrane 0 GCGGTGGGACAGGGGCTGGGC 0.522 TMC1 117531 broad.mit.edu 37 9 75445373 75445373 + Silent SNP C T T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr9:75445373C>T uc004aiz.1 + 22 2676 c.2136C>T c.(2134-2136)GCC>GCT p.A712A TMC1_uc010moz.1_Silent_p.A670A|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.A566A|TMC1_uc010mpa.1_Silent_p.A566A NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 712 Helical; (Potential). sensory perception of sound integral to membrane ovary(1) 1 TTAGTTTGGCCATCTATTATC 0.284 PMPCA 23203 broad.mit.edu 37 9 139311437 139311437 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chr9:139311437G>A uc004chl.2 + 7 673 c.668G>A c.(667-669)CGT>CAT p.R223H PMPCA_uc010nbl.2_Missense_Mutation_p.R123H|PMPCA_uc011mdz.1_Missense_Mutation_p.R92H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 223 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GGCCTCCACCGTTTCTGCCCC 0.562 LUZP4 51213 broad.mit.edu 37 X 114541268 114541268 + Missense_Mutation SNP G A A TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx c29754bc-44e8-4980-98a1-b8d69700f4a3 cf01308d-b06f-488b-b5e8-a37d998eed16 g.chrX:114541268G>A uc004eqa.2 + 4 875 c.841G>A c.(841-843)GTG>ATG p.V281M LUZP4_uc004eqb.2_Missense_Mutation_p.V199M NM_016383 NP_057467 Q9P127 LUZP4_HUMAN leucine zipper protein 4 281 nucleus ovary(2) 2 GAGAGATCTCGTGGCCACTGA 0.428