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 ACAP3 116983 broad.mit.edu 37 1 1235355 1235355 + Missense_Mutation SNP C T T rs12409951 TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:1235355C>T uc001aeb.2 - 8 735 c.661G>A c.(661-663)GAG>AAG p.E221K ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.E179K|ACAP3_uc001aec.1_Missense_Mutation_p.E179K NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 221 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 AGGCTCACCTCGGCTGCCAGC 0.642 8 36 --- --- --- --- PASS MORN1 79906 broad.mit.edu 37 1 2290142 2290142 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:2290142C>A uc001ajb.1 - 9 779 c.758G>T c.(757-759)CGG>CTG p.R253L MORN1_uc009vld.2_Missense_Mutation_p.R229L|MORN1_uc001ajd.1_Missense_Mutation_p.R253L NM_024848 NP_079124 Q5T089 MORN1_HUMAN MORN repeat containing 1 253 ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) CTGCAGGACCCGGCCGCTCTC 0.612 18 12 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37324827 37324827 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:37324827G>A uc001caz.2 - 7 1121 c.986C>T c.(985-987)GCC>GTC p.A329V GRIK3_uc001cba.1_Missense_Mutation_p.A329V NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 329 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GATATGGACGGCGTCGTACAG 0.652 63 57 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39797830 39797830 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:39797830G>A uc010oiu.1 + 1 1021 c.890G>A c.(889-891)GGA>GAA p.G297E MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1862 Plectin 5. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCTGAATCTGGAGAGATCCTC 0.448 92 88 --- --- --- --- PASS C1orf168 199920 broad.mit.edu 37 1 57224416 57224416 + Silent SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:57224416A>G uc001cym.3 - 6 1477 c.1071T>C c.(1069-1071)TAT>TAC p.Y357Y C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.2_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 357 ovary(3)|skin(2) 5 TTCCAACTTCATAAGTTGCTA 0.318 17 37 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74648474 74648474 + Silent SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:74648474A>G uc001dfy.3 - 3 513 c.321T>C c.(319-321)AAT>AAC p.N107N LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 107 LRR 3. ovary(2) 2 TTGCAAACCCATTGTCATGAA 0.308 31 77 --- --- --- --- PASS TRIM46 80128 broad.mit.edu 37 1 155156413 155156413 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:155156413G>T uc001fhs.1 + 10 2110 c.2027G>T c.(2026-2028)AGG>ATG p.R676M RAG1AP1_uc010pey.1_Intron|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R550M|TRIM46_uc001fhu.1_Missense_Mutation_p.R653M|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 676 B30.2/SPRY. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTGACAGGGAGGGATGGCCCC 0.657 25 36 --- --- --- --- PASS CD1D 912 broad.mit.edu 37 1 158151513 158151513 + Splice_Site SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:158151513T>C uc001frr.2 + 3 827 c.328_splice c.e3+2 p.Y110_splice CD1D_uc009wsr.1_Splice_Site_p.Y110_splice|CD1D_uc009wss.2_Splice_Site_p.Y110_splice|CD1D_uc009wst.1_Splice_Site_p.Y6_splice NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GCTTATCCTGTGAGCTGAGGG 0.542 22 50 --- --- --- --- PASS ADAMTS4 9507 broad.mit.edu 37 1 161168117 161168117 + Missense_Mutation SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:161168117C>G uc001fyt.3 - 1 729 c.301G>C c.(301-303)GGT>CGT p.G101R ADAMTS4_uc001fyu.2_Missense_Mutation_p.G101R|NDUFS2_uc001fyv.2_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 101 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ACCTGCACACCGGAGTCCTGC 0.667 13 30 --- --- --- --- PASS ABL2 27 broad.mit.edu 37 1 179084073 179084073 + Nonsense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:179084073C>A uc001gmj.3 - 9 1788 c.1501G>T c.(1501-1503)GGA>TGA p.G501* ABL2_uc010pnf.1_Nonsense_Mutation_p.G501*|ABL2_uc010png.1_Nonsense_Mutation_p.G480*|ABL2_uc010pnh.1_Nonsense_Mutation_p.G480*|ABL2_uc009wxe.2_Nonsense_Mutation_p.G480*|ABL2_uc001gmg.3_Nonsense_Mutation_p.G486*|ABL2_uc001gmi.3_Nonsense_Mutation_p.G486*|ABL2_uc001gmh.3_Nonsense_Mutation_p.G465*|ABL2_uc010pne.1_Nonsense_Mutation_p.G465* NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 501 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) ATTCGATATCCTTTTTCTAGT 0.408 T ETV6 AML 43 150 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216850454 216850454 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:216850454C>T uc001hkw.1 - 2 602 c.436G>A c.(436-438)GAA>AAA p.E146K ESRRG_uc001hky.1_Missense_Mutation_p.E123K|ESRRG_uc009xdp.1_Missense_Mutation_p.E123K|ESRRG_uc001hkz.1_Missense_Mutation_p.E123K|ESRRG_uc010puc.1_Missense_Mutation_p.E123K|ESRRG_uc001hla.1_Missense_Mutation_p.E123K|ESRRG_uc001hlb.1_Missense_Mutation_p.E123K|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.E123K|ESRRG_uc001hld.1_Missense_Mutation_p.E123K|ESRRG_uc001hkx.1_Missense_Mutation_p.E151K|ESRRG_uc009xdo.1_Missense_Mutation_p.E123K|ESRRG_uc001hle.1_Missense_Mutation_p.E123K NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 146 Nuclear receptor.|NR C4-type. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TTGCAGGCTTCACATGATGCT 0.478 8 91 --- --- --- --- PASS PLD5 200150 broad.mit.edu 37 1 242287914 242287914 + Silent SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:242287914T>C uc001hzn.1 - 6 916 c.789A>G c.(787-789)TTA>TTG p.L263L PLD5_uc001hzl.3_Silent_p.L201L|PLD5_uc001hzm.3_Silent_p.L53L|PLD5_uc001hzo.1_Silent_p.L171L 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; 263 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ATATCCTTTGTAAATCTAGGA 0.368 26 100 --- --- --- --- PASS ZNF496 84838 broad.mit.edu 37 1 247464506 247464506 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:247464506G>C uc001ico.2 - 9 1544 c.1079C>G c.(1078-1080)TCT>TGT p.S360C ZNF496_uc009xgv.2_Missense_Mutation_p.S396C|ZNF496_uc001icp.2_Missense_Mutation_p.S360C NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 360 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CTCGTCCCCAGAGCTGGAGAG 0.627 6 100 --- --- --- --- PASS HADHA 3030 broad.mit.edu 37 2 26418042 26418042 + Silent SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:26418042C>G uc002rgy.2 - 15 1669 c.1539G>C c.(1537-1539)ACG>ACC p.T513T HADHA_uc010yks.1_Silent_p.T426T NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha 513 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) TTTTCTCGGTCGTGATAATCT 0.507 41 91 --- --- --- --- PASS SLC30A3 7781 broad.mit.edu 37 2 27480855 27480855 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:27480855C>T uc002rjk.2 - 4 682 c.496G>A c.(496-498)GTC>ATC p.V166I SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Missense_Mutation_p.V161I NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 166 Helical; (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCAGGCGGACGAAGGCCAGG 0.627 18 32 --- --- --- --- PASS IFT172 26160 broad.mit.edu 37 2 27672642 27672642 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:27672642T>C uc002rku.2 - 37 4127 c.4076A>G c.(4075-4077)GAC>GGC p.D1359G IFT172_uc010ezb.2_RNA NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1359 TPR 11. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CTTGACAAGGTCCAGATTCAG 0.522 45 102 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40401975 40401975 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:40401975G>T uc002rrx.2 - 4 1968 c.1944C>A c.(1942-1944)TTC>TTA p.F648L uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.F648L|SLC8A1_uc002rrz.2_Missense_Mutation_p.F640L|SLC8A1_uc002rsa.2_Missense_Mutation_p.F640L|SLC8A1_uc002rsd.3_Missense_Mutation_p.F640L|SLC8A1_uc002rsb.1_Missense_Mutation_p.F640L NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 648 Cytoplasmic (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) CTGTTATTGTGAAGCCACCTA 0.313 4 158 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898756 48898756 + Silent SNP T A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:48898756T>A uc010yol.1 + 7 3284 c.3237T>A c.(3235-3237)GTT>GTA p.V1079V STON1-GTF2A1L_uc002rwp.1_Silent_p.V1126V|GTF2A1L_uc002rws.1_Silent_p.V422V|GTF2A1L_uc010yom.1_Silent_p.V388V|GTF2A1L_uc002rwt.2_Silent_p.V422V NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 1079 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GAGATGATGTTAGTGAACAGG 0.333 36 237 --- --- --- --- PASS SLC1A4 6509 broad.mit.edu 37 2 65217264 65217264 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:65217264G>A uc010yqa.1 + 1 809 c.487G>A c.(487-489)GTC>ATC p.V163I SLC1A4_uc010ypy.1_Intron|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Missense_Mutation_p.V163I NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 163 Extracellular (Potential). cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(1) 1 L-Alanine(DB00160) GCCTCCTCCTGTCCCCAAAGA 0.652 4 17 --- --- --- --- PASS LONRF2 164832 broad.mit.edu 37 2 100938034 100938034 + Silent SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:100938034C>A uc002tal.3 - 1 1162 c.522G>T c.(520-522)CCG>CCT p.P174P NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 174 proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 GCCGCACCTGCGGCCGCGCGG 0.751 6 16 --- --- --- --- PASS GPR45 11250 broad.mit.edu 37 2 105858749 105858749 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:105858749C>T uc002tco.1 + 1 550 c.434C>T c.(433-435)CCG>CTG p.P145L NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 145 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 AAGCTGAACCCGCGCAGGGCC 0.652 11 28 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109100746 109100746 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:109100746G>C uc002tec.2 + 13 3746 c.3592G>C c.(3592-3594)GAA>CAA p.E1198Q GCC2_uc002ted.2_Missense_Mutation_p.E1097Q NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1198 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 ACAGAAACAAGAAACCCTACA 0.269 5 47 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125281905 125281905 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:125281905G>C uc002tno.2 + 9 1714 c.1350G>C c.(1348-1350)TGG>TGC p.W450C CNTNAP5_uc010flu.2_Missense_Mutation_p.W451C NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 450 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ATGGCCTGTGGCACTCGGTTA 0.527 19 107 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141356255 141356255 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:141356255G>A uc002tvj.1 - 43 8111 c.7139C>T c.(7138-7140)TCA>TTA p.S2380L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2380 Extracellular (Potential).|LDL-receptor class B 26. 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) ACTGCCATCTGAGAAATACAG 0.398 TSP Lung(27;0.18) 46 118 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152522861 152522861 + Missense_Mutation SNP T G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:152522861T>G uc010fnx.2 - 41 4965 c.4774A>C c.(4774-4776)AGT>CGT p.S1592R NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1592 Nebulin 41. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCTGAAGACTGAGAAATCCA 0.428 57 128 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179499896 179499896 + Nonsense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:179499896G>T uc010zfg.1 - 177 34540 c.34316C>A c.(34315-34317)TCA>TAA p.S11439* TTN_uc010zfh.1_Nonsense_Mutation_p.S5134*|TTN_uc010zfi.1_Nonsense_Mutation_p.S5067*|TTN_uc010zfj.1_Nonsense_Mutation_p.S4942* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12366 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) ACTCACAGGTGAGGGCCTTAG 0.353 4 193 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179642226 179642226 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:179642226G>A uc010zfg.1 - 26 4790 c.4566C>T c.(4564-4566)CCC>CCT p.P1522P TTN_uc010zfh.1_Silent_p.P1476P|TTN_uc010zfi.1_Silent_p.P1476P|TTN_uc010zfj.1_Silent_p.P1476P|TTN_uc002unb.2_Silent_p.P1522P|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1522 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) CAGAATCACTGGGTGTGGCAG 0.383 20 57 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179648821 179648821 + Silent SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:179648821T>C uc010zfg.1 - 16 2975 c.2751A>G c.(2749-2751)GAA>GAG p.E917E TTN_uc010zfh.1_Silent_p.E871E|TTN_uc010zfi.1_Silent_p.E871E|TTN_uc010zfj.1_Silent_p.E871E|TTN_uc002unb.2_Silent_p.E917E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 917 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) CGTGCAGTACTTCAAAGCGCT 0.537 42 131 --- --- --- --- PASS PLCD4 84812 broad.mit.edu 37 2 219499248 219499248 + Silent SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:219499248C>A uc002vij.1 + 13 1986 c.1791C>A c.(1789-1791)GGC>GGA p.G597G NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 597 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCCAGAATGGCGGCTGTGGCT 0.517 3 88 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238283095 238283095 + Silent SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:238283095C>G uc002vwl.2 - 8 3924 c.3639G>C c.(3637-3639)CTG>CTC p.L1213L COL6A3_uc002vwo.2_Silent_p.L1007L|COL6A3_uc010znj.1_Silent_p.L606L|COL6A3_uc002vwq.2_Silent_p.L1007L|COL6A3_uc002vwr.2_Silent_p.L806L NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1213 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCAGCCTGCTCAGCTCCTCGC 0.607 38 54 --- --- --- --- PASS MTERFD2 130916 broad.mit.edu 37 2 242036818 242036818 + Missense_Mutation SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr2:242036818C>G uc002wan.1 - 2 1125 c.632G>C c.(631-633)TGT>TCT p.C211S MTERFD2_uc010zoj.1_5'UTR|MTERFD2_uc010zok.1_Missense_Mutation_p.C182S NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 182 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) TTCAGGGCAACAGTAAAGCAC 0.443 28 73 --- --- --- --- PASS SRGAP3 9901 broad.mit.edu 37 3 9036101 9036101 + Silent SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr3:9036101C>T uc003brf.1 - 19 3010 c.2334G>A c.(2332-2334)TCG>TCA p.S778S SRGAP3_uc003brg.1_Silent_p.S754S NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 778 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) ACCAGTCCTCCGAGGCGCGGT 0.582 T RAF1 pilocytic astrocytoma 60 192 --- --- --- --- PASS ACY1 95 broad.mit.edu 37 3 52019412 52019412 + Nonsense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr3:52019412G>A uc003dcp.2 + 4 256 c.195G>A c.(193-195)TGG>TGA p.W65* ABHD14B_uc003dcn.2_5'Flank|ACY1_uc011bea.1_Nonsense_Mutation_p.W155*|ACY1_uc011beb.1_Nonsense_Mutation_p.W65*|ACY1_uc003dcq.2_Nonsense_Mutation_p.W65* NM_000666 NP_000657 Q03154 ACY1_HUMAN aminoacylase 1 65 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) TGTTGACCTGGCCAGGCACCA 0.612 4 80 --- --- --- --- PASS ATG3 64422 broad.mit.edu 37 3 112267419 112267419 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr3:112267419C>T uc003dzd.2 - 5 414 c.304G>A c.(304-306)GAT>AAT p.D102N ATG3_uc003dzc.2_Missense_Mutation_p.D102N|ATG3_uc010hqe.2_Missense_Mutation_p.D102N NM_022488 NP_071933 Q9NT62 ATG3_HUMAN Apg3p 102 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 CCATCACCATCATCTTCTTCA 0.328 36 193 --- --- --- --- PASS UPK1B 7348 broad.mit.edu 37 3 118917955 118917955 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr3:118917955G>T uc003ecc.2 + 7 789 c.700G>T c.(700-702)GCC>TCC p.A234S UPK1B_uc011bix.1_Missense_Mutation_p.A154S|UPK1B_uc003ecd.2_Missense_Mutation_p.A226S NM_006952 NP_008883 O75841 UPK1B_HUMAN uroplakin 1B 234 Helical; (Potential). epithelial cell differentiation integral to membrane structural molecule activity 0 GBM - Glioblastoma multiforme(114;0.222) CTGGGGGGTTGCCTGGTTTGG 0.493 35 66 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130290112 130290112 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr3:130290112C>A uc010htl.2 + 6 2883 c.2852C>A c.(2851-2853)GCC>GAC p.A951D NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 951 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 ATTGATGGTGCCAATCCCGTG 0.512 29 91 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132235581 132235581 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr3:132235581A>G uc003eor.2 + 48 5659 c.5594A>G c.(5593-5595)AAT>AGT p.N1865S NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1865 heat shock protein binding ovary(1)|breast(1) 2 ATGTTCTGCAATTCAACACAT 0.343 14 62 --- --- --- --- PASS NPHP3 27031 broad.mit.edu 37 3 132419237 132419237 + Nonsense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr3:132419237C>A uc003epe.1 - 11 1761 c.1684G>T c.(1684-1686)GGA>TGA p.G562* NPHP3_uc003epd.1_5'UTR|NPHP3_uc003epf.1_Nonsense_Mutation_p.G317* NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 562 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 ATGGGCCTTCCCACAAAATGG 0.358 4 164 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55602936 55602936 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr4:55602936G>A uc010igr.2 + 19 2733 c.2646G>A c.(2644-2646)ATG>ATA p.M882I KIT_uc010igs.2_Missense_Mutation_p.M878I NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 882 Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TCTACAAGATGATCAAGGAAG 0.448 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 30 122 --- --- --- --- PASS PDCL2 132954 broad.mit.edu 37 4 56448312 56448312 + Missense_Mutation SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr4:56448312C>G uc003hbb.2 - 2 202 c.99G>C c.(97-99)ATG>ATC p.M33I NM_152401 NP_689614 Q8N4E4 PDCL2_HUMAN phosducin-like 2 33 0 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) AACGTAAAACCATTTCTTCAA 0.358 25 85 --- --- --- --- PASS HELQ 113510 broad.mit.edu 37 4 84358185 84358185 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr4:84358185T>C uc003hom.2 - 9 2053 c.1874A>G c.(1873-1875)AAT>AGT p.N625S HELQ_uc010ikb.2_Missense_Mutation_p.N558S|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 625 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 CAGGTTGCCATTGCCAATATT 0.403 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 27 69 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87684053 87684053 + Missense_Mutation SNP A C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr4:87684053A>C uc003hpz.2 + 24 4207 c.3727A>C c.(3727-3729)AGC>CGC p.S1243R PTPN13_uc003hpy.2_Missense_Mutation_p.S1243R|PTPN13_uc003hqa.2_Missense_Mutation_p.S1224R|PTPN13_uc003hqb.2_Missense_Mutation_p.S1052R NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1243 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GCGGGAAGGAAGCCTGAGTTC 0.532 42 97 --- --- --- --- PASS HERC5 51191 broad.mit.edu 37 4 89385004 89385004 + Splice_Site SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr4:89385004A>G uc003hrt.2 + 6 934 c.781_splice c.e6-2 p.D261_splice NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CCCTTTCCTTAGGATGGGCTG 0.378 35 115 --- --- --- --- PASS PRSS12 8492 broad.mit.edu 37 4 119273413 119273413 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr4:119273413G>T uc003ica.1 - 1 510 c.463C>A c.(463-465)CGT>AGT p.R155S NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 155 Kringle. membrane scavenger receptor activity skin(1) 1 ACCTTGCCACGGGCGTCTCCG 0.692 6 17 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5146420 5146420 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr5:5146420T>C uc003jdl.2 + 3 491 c.353T>C c.(352-354)CTA>CCA p.L118P ADAMTS16_uc003jdk.1_Missense_Mutation_p.L118P|ADAMTS16_uc003jdj.1_Missense_Mutation_p.L118P NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 118 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TCCAGCAGCCTAGTGGCTCCT 0.537 90 96 --- --- --- --- PASS CMBL 134147 broad.mit.edu 37 5 10286472 10286472 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr5:10286472C>T uc003jes.2 - 4 911 c.460G>A c.(460-462)GTC>ATC p.V154I NM_138809 NP_620164 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase 154 cytosol hydrolase activity|protein binding skin(1) 1 TTACCATAGACGGACACCCCT 0.493 18 108 --- --- --- --- PASS TRIM36 55521 broad.mit.edu 37 5 114469806 114469806 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr5:114469806C>A uc003kqs.2 - 8 1794 c.1285G>T c.(1285-1287)GTT>TTT p.V429F TRIM36_uc011cwc.1_Missense_Mutation_p.V417F|TRIM36_uc003kqt.2_Missense_Mutation_p.V274F NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 429 Fibronectin type-III. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.V429I(1) ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) TTGTTATAAACTTTGCTCTGT 0.328 26 57 --- --- --- --- PASS SLC27A6 28965 broad.mit.edu 37 5 128362850 128362850 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr5:128362850G>C uc003kuy.2 + 8 1676 c.1280G>C c.(1279-1281)CGA>CCA p.R427P SLC27A6_uc003kuz.2_Missense_Mutation_p.R427P NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 427 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CTCATTTCTCGAGTGAATGCA 0.368 35 80 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140553062 140553062 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr5:140553062G>A uc003lit.2 + 1 820 c.646G>A c.(646-648)GAC>AAC p.D216N NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 216 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCGCTTTAGACGGCGGCTC 0.532 25 67 --- --- --- --- PASS PCDHGA9 56107 broad.mit.edu 37 5 140783976 140783976 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr5:140783976G>A uc003lkh.1 + 1 1457 c.1457G>A c.(1456-1458)AGA>AAA p.R486K 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|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R486K NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 486 Extracellular (Potential).|Cadherin 5. 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) GAGAATTCTAGAGTTATTTAC 0.483 27 54 --- --- --- --- PASS UNC5A 90249 broad.mit.edu 37 5 176304243 176304243 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr5:176304243G>A uc003mey.2 + 9 1621 c.1429G>A c.(1429-1431)GAG>AAG p.E477K NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 477 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAGATCTATGAGATCTACCT 0.642 33 54 --- --- --- --- PASS TUBB2A 7280 broad.mit.edu 37 6 3155931 3155931 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr6:3155931C>T uc003mvc.2 - 3 291 c.205G>A c.(205-207)GAG>AAG p.E69K TUBB2A_uc003mvb.2_Missense_Mutation_p.E62K|TUBB2A_uc003mvd.2_Intron NM_001069 NP_001060 Q13885 TBB2A_HUMAN tubulin, beta 2 69 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity skin(1) 1 Ovarian(93;0.0386) all_hematologic(90;0.0895) GTGCCAGGCTCCAGATCCACC 0.527 39 64 --- --- --- --- PASS IP6K3 117283 broad.mit.edu 37 6 33695967 33695967 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr6:33695967C>A uc010jvf.2 - 4 846 c.310G>T c.(310-312)GTG>TTG p.V104L IP6K3_uc003ofb.2_Missense_Mutation_p.V104L NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 104 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 CATATGGCCACCGCCGCCGAC 0.632 4 30 --- --- --- --- PASS TNFRSF21 27242 broad.mit.edu 37 6 47253871 47253871 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr6:47253871C>A uc003oyv.2 - 2 990 c.557G>T c.(556-558)TGC>TTC p.C186F NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 186 Extracellular (Potential).|TNFR-Cys 4. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) GTATGCTTTGCATTTCATCAC 0.547 38 77 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51918945 51918945 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr6:51918945C>T uc003pah.1 - 20 2131 c.1855G>A c.(1855-1857)GGC>AGC p.G619S PKHD1_uc003pai.2_Missense_Mutation_p.G619S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 619 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TTCATGTGGCCTTTGTATGCA 0.438 41 138 --- --- --- --- PASS C6orf142 90523 broad.mit.edu 37 6 54025338 54025338 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr6:54025338C>A uc003pcg.3 + 6 888 c.775C>A c.(775-777)CAG>AAG p.Q259K C6orf142_uc003pcf.2_Missense_Mutation_p.Q783K|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.Q794K NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 259 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) ACAGCTCAGGCAGCAAACTGA 0.408 25 98 --- --- --- --- PASS NDUFAF4 29078 broad.mit.edu 37 6 97339016 97339016 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr6:97339016G>A uc003pow.2 - 3 582 c.492C>T c.(490-492)TTC>TTT p.F164F NDUFAF4_uc003pov.2_RNA NM_014165 NP_054884 Q9P032 NDUF4_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 164 mitochondrial respiratory chain complex I assembly mitochondrial membrane calmodulin binding ovary(1) 1 CTTCAGGAGGGAAGATTTCGA 0.343 29 109 --- --- --- --- PASS MAP3K4 4216 broad.mit.edu 37 6 161510413 161510413 + Silent SNP T G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr6:161510413T>G uc003qtn.2 + 11 3025 c.2883T>G c.(2881-2883)GCT>GCG p.A961A MAP3K4_uc010kkc.1_Silent_p.A961A|MAP3K4_uc003qto.2_Silent_p.A961A|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Silent_p.A414A|MAP3K4_uc003qtp.2_5'Flank NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 961 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGAGAAAAGCTTTCCAGCAGT 0.473 58 225 --- --- --- --- PASS STARD3NL 83930 broad.mit.edu 37 7 38254705 38254705 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:38254705C>T uc003tfr.2 + 4 528 c.380C>T c.(379-381)GCG>GTG p.A127V STARD3NL_uc003tfs.2_Missense_Mutation_p.A127V|STARD3NL_uc003tft.2_Missense_Mutation_p.A127V NM_032016 NP_114405 O95772 MENTO_HUMAN MLN64 N-terminal homolog 127 MENTAL.|Helical; (Potential). integral to membrane|late endosome membrane ovary(1) 1 TGGGCAATAGCGGTGAGTATG 0.483 52 52 --- --- --- --- PASS BLVRA 644 broad.mit.edu 37 7 43840098 43840098 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:43840098G>C uc003tir.2 + 6 470 c.387G>C c.(385-387)TTG>TTC p.L129F BLVRA_uc010kxv.2_Missense_Mutation_p.L129F NM_000712 NP_000703 P53004 BIEA_HUMAN biliverdin reductase A precursor 129 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding ovary(1) 1 NADH(DB00157) TTGAACTCTTGATGGAGGAAT 0.488 28 50 --- --- --- --- PASS WBSCR22 114049 broad.mit.edu 37 7 73111966 73111966 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:73111966G>A uc003tyt.2 + 11 791 c.733G>A c.(733-735)GTG>ATG p.V245M WBSCR22_uc003tyu.2_Missense_Mutation_p.V262M|WBSCR22_uc003tyv.2_Missense_Mutation_p.V207M|WBSCR22_uc003tyw.1_Missense_Mutation_p.V108M NM_017528 NP_059998 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 245 nucleus methyltransferase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) GCGGGGAATGGTGAGGAAGAG 0.647 7 65 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92905597 92905597 + Nonsense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:92905597C>T uc003umo.2 + 12 1050 c.922C>T c.(922-924)CAA>TAA p.Q308* CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Nonsense_Mutation_p.Q278*|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Nonsense_Mutation_p.Q308* NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 308 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CCAAAAGCTGCAATATAAGGA 0.343 54 131 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100377230 100377230 + Silent SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:100377230G>T uc003uwj.2 + 36 6645 c.6480G>T c.(6478-6480)ACG>ACT p.T2160T ZAN_uc003uwk.2_Silent_p.T2160T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.T247T NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2160 Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TAGACCTCACGCCCTTCCTGG 0.677 5 13 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677564 100677564 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:100677564C>A uc003uxp.1 + 3 2920 c.2867C>A c.(2866-2868)ACC>AAC p.T956N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 956 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14. 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) ACACCTGTGACCACTTCTACT 0.498 87 365 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677565 100677565 + Silent SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:100677565C>A uc003uxp.1 + 3 2921 c.2868C>A c.(2866-2868)ACC>ACA p.T956T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 956 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14. 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) CACCTGTGACCACTTCTACTG 0.502 87 366 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101747623 101747623 + Silent SNP G C C rs143157780 byFrequency TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:101747623G>C uc003uyx.3 + 6 452 c.414G>C c.(412-414)ACG>ACC p.T138T CUX1_uc003uys.3_Silent_p.T149T|CUX1_uc003uyt.2_Silent_p.T149T|CUX1_uc011kkn.1_Silent_p.T112T|CUX1_uc003uyw.2_Silent_p.T103T|CUX1_uc003uyv.2_Silent_p.T133T|CUX1_uc003uyu.2_Silent_p.T149T NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 138 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CAGAGGTTACGATAAAAGCAC 0.393 44 169 --- --- --- --- PASS LAMB1 3912 broad.mit.edu 37 7 107599895 107599895 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:107599895T>C uc003vew.2 - 20 2824 c.2489A>G c.(2488-2490)AAT>AGT p.N830S LAMB1_uc003vev.2_Missense_Mutation_p.N854S NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 830 Laminin EGF-like 7. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAGAAGGCATTGACAGATCC 0.498 22 81 --- --- --- --- PASS C7orf60 154743 broad.mit.edu 37 7 112535725 112535725 + Silent SNP T A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:112535725T>A uc003vgo.1 - 3 499 c.372A>T c.(370-372)GTA>GTT p.V124V C7orf60_uc011kms.1_Silent_p.V150V NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 124 ovary(2)|skin(1) 3 TAGTGGCAAGTACAGCTCTTT 0.353 38 137 --- --- --- --- PASS ANKRD7 56311 broad.mit.edu 37 7 117874559 117874559 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:117874559T>C uc003vji.2 + 2 427 c.254T>C c.(253-255)ATA>ACA p.I85T NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 85 ANK 1. male gonad development 0 CAATGCAAAATAAATGTCCGG 0.343 25 79 --- --- --- --- PASS SPAM1 6677 broad.mit.edu 37 7 123593967 123593967 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:123593967C>T uc003vld.2 + 4 745 c.343C>T c.(343-345)CCC>TCC p.P115S SPAM1_uc003vle.2_Missense_Mutation_p.P115S|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.P115S|SPAM1_uc010lku.2_Missense_Mutation_p.P115S NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 115 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) TGGAGGAATCCCCCAGAAGAT 0.398 63 151 --- --- --- --- PASS CREB3L2 64764 broad.mit.edu 37 7 137590525 137590525 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:137590525G>A uc003vtw.2 - 6 1233 c.838C>T c.(838-840)CCC>TCC p.P280S CREB3L2_uc003vtx.1_Missense_Mutation_p.P280S|CREB3L2_uc003vtv.2_Missense_Mutation_p.P217S NM_194071 NP_919047 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 280 Cytoplasmic (Potential). chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1) 160 GTGGGGATGGGATAGCCCTCA 0.517 T FUS fibromyxoid sarcoma 104 234 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151878809 151878809 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:151878809G>T uc003wla.2 - 36 6355 c.6136C>A c.(6136-6138)CCA>ACA p.P2046T MLL3_uc003wkz.2_Missense_Mutation_p.P1107T NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2046 Pro-rich. 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) GGTTGCATTGGAGTCTTAAAA 0.483 N medulloblastoma 52 95 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3165292 3165292 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr8:3165292G>T uc011kwk.1 - 25 4268 c.3878C>A c.(3877-3879)CCT>CAT p.P1293H CSMD1_uc011kwj.1_Missense_Mutation_p.P685H|CSMD1_uc003wqe.2_Missense_Mutation_p.P449H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1293 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) TGGATAGCCAGGGGACAATAT 0.483 63 75 --- --- --- --- PASS ADAM9 8754 broad.mit.edu 37 8 38913123 38913123 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr8:38913123G>A uc003xmr.2 + 14 1501 c.1423G>A c.(1423-1425)GGA>AGA p.G475R ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 475 Extracellular (Potential).|Disintegrin. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TTTATGCCGAGGAAAAACCAG 0.368 60 674 --- --- --- --- PASS RB1CC1 9821 broad.mit.edu 37 8 53586413 53586413 + Missense_Mutation SNP T A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr8:53586413T>A uc003xre.3 - 7 1552 c.994A>T c.(994-996)ATG>TTG p.M332L RB1CC1_uc003xrf.3_Missense_Mutation_p.M332L NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 332 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ACCCTGCTCATAGAATCAAAG 0.318 41 61 --- --- --- --- PASS MTBP 27085 broad.mit.edu 37 8 121483082 121483082 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr8:121483082C>T uc003ypc.1 + 11 1115 c.1070C>T c.(1069-1071)CCA>CTA p.P357L MTBP_uc011lie.1_RNA NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 357 cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTTGTATTGCCATGTACCATT 0.353 19 175 --- --- --- --- PASS KLHL38 340359 broad.mit.edu 37 8 124664915 124664915 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr8:124664915G>A uc003yqs.1 - 1 276 c.252C>T c.(250-252)ACC>ACT p.T84T NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 84 BTB. 0 TCTGGTCCAGGGTTGGGGGGT 0.582 30 69 --- --- --- --- PASS KIFC2 90990 broad.mit.edu 37 8 145697332 145697332 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr8:145697332G>C uc003zcz.2 + 13 1453 c.1388G>C c.(1387-1389)AGA>ACA p.R463T KIFC2_uc003zda.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 463 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CAGGTCTTCAGAGAGCTGGAA 0.597 68 128 --- --- --- --- PASS KIFC2 90990 broad.mit.edu 37 8 145697404 145697404 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr8:145697404G>A uc003zcz.2 + 13 1525 c.1460G>A c.(1459-1461)GGC>GAC p.G487D KIFC2_uc003zda.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 487 ATP (By similarity).|Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGCCAGACAGGCACCGGGAAG 0.637 63 120 --- --- --- --- PASS ARHGAP39 80728 broad.mit.edu 37 8 145773748 145773748 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr8:145773748C>T uc003zdt.1 - 6 1277 c.722G>A c.(721-723)CGC>CAC p.R241H ARHGAP39_uc011llk.1_Missense_Mutation_p.R241H|ARHGAP39_uc003zds.1_Missense_Mutation_p.R241H NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 241 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 TCTGCGGGAGCGGACCCCAGG 0.692 6 30 --- --- --- --- PASS LPPR1 54886 broad.mit.edu 37 9 104048410 104048410 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr9:104048410T>C uc004bbb.2 + 4 676 c.277T>C c.(277-279)TAT>CAT p.Y93H LPPR1_uc011lvi.1_Missense_Mutation_p.Y69H|LPPR1_uc004bbc.2_Missense_Mutation_p.Y93H|LPPR1_uc010mtc.2_Missense_Mutation_p.Y77H NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 93 integral to membrane catalytic activity 0 GATATCCATGTATTTCATAAA 0.373 52 124 --- --- --- --- PASS LPPR1 54886 broad.mit.edu 37 9 104048506 104048506 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr9:104048506A>G uc004bbb.2 + 4 772 c.373A>G c.(373-375)ATA>GTA p.I125V LPPR1_uc011lvi.1_Missense_Mutation_p.I101V|LPPR1_uc004bbc.2_Missense_Mutation_p.I125V|LPPR1_uc010mtc.2_Missense_Mutation_p.I109V NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 125 integral to membrane catalytic activity 0 TCGAAGGATCATAAGATTCAC 0.368 45 87 --- --- --- --- PASS PRPF4 9128 broad.mit.edu 37 9 116049074 116049074 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr9:116049074G>A uc004bgx.2 + 9 951 c.901G>A c.(901-903)GCT>ACT p.A301T PRPF4_uc004bgy.2_Missense_Mutation_p.A300T NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 301 WD 2. Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 CTCTTGTGCGGCTGATGGCTC 0.478 229 424 --- --- --- --- PASS DENND1A 57706 broad.mit.edu 37 9 126429330 126429330 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr9:126429330C>A uc004bnz.1 - 8 715 c.482G>T c.(481-483)AGA>ATA p.R161I DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Missense_Mutation_p.R129I|DENND1A_uc004boa.1_Missense_Mutation_p.R161I|DENND1A_uc004bob.1_Missense_Mutation_p.R131I|DENND1A_uc004boc.2_Missense_Mutation_p.R129I NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 161 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 GGGAAGTTCTCTGGTATCAGG 0.303 4 165 --- --- --- --- PASS GOLGA2 2801 broad.mit.edu 37 9 131030746 131030746 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr9:131030746C>A uc011maw.1 - 3 278 c.265G>T c.(265-267)GGT>TGT p.G89C GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_5'UTR|GOLGA2_uc004bum.1_5'UTR NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 89 Potential. Golgi cisterna membrane protein binding ovary(1) 1 GAAGGGACACCGCCAGGTAAC 0.577 20 43 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18250558 18250558 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:18250558G>T uc001ipo.2 + 3 583 c.310G>T c.(310-312)GAT>TAT p.D104Y SLC39A12_uc001ipn.2_Missense_Mutation_p.D104Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.D104Y|SLC39A12_uc010qck.1_5'UTR NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 104 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AAATTTTGAAGATCAGCTTAG 0.358 37 101 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26377272 26377272 + Silent SNP G T T rs146797033 byFrequency TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:26377272G>T uc001isn.2 + 15 1860 c.1500G>T c.(1498-1500)GCG>GCT p.A500A MYO3A_uc009xko.1_Silent_p.A500A|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.A500A NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 500 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 CTTCTGGAGCGGTAGTGGGAG 0.383 36 87 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37438704 37438704 + Splice_Site SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:37438704G>T uc001iza.1 + 11 1504 c.1405_splice c.e11-1 p.P469_splice NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ACCCCATTTAGCCTGCCATTG 0.279 34 114 --- --- --- --- PASS PPYR1 5540 broad.mit.edu 37 10 47086886 47086886 + Nonsense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:47086886C>T uc001jee.2 + 3 522 c.103C>T c.(103-105)CAG>TAG p.Q35* ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Nonsense_Mutation_p.Q35* NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 35 Extracellular (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 TGAACATTGCCAGGATTCCGT 0.532 9 184 --- --- --- --- PASS C10orf53 282966 broad.mit.edu 37 10 50916591 50916591 + Nonsense_Mutation SNP T A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:50916591T>A uc001jid.1 + 3 462 c.402T>A c.(400-402)TGT>TGA p.C134* NM_182554 NP_872360 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 isoform a Error:Variant_position_missing_in_Q8N6V4_after_alignment 0 all_neural(218;0.107) ccaatctttgtgacctgggtt 0.000 18 165 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582055 55582055 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:55582055G>C uc001jju.1 - 33 5826 c.5431C>G c.(5431-5433)CTA>GTA p.L1811V 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.L1808V|PCDH15_uc010qhw.1_Missense_Mutation_p.L1771V|PCDH15_uc010qhx.1_Missense_Mutation_p.L1742V|PCDH15_uc010qhy.1_Missense_Mutation_p.L1818V|PCDH15_uc010qhz.1_Missense_Mutation_p.L1813V|PCDH15_uc010qia.1_Missense_Mutation_p.L1791V|PCDH15_uc010qib.1_Missense_Mutation_p.L1788V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1811 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) aatggaggtagaagaggtggT 0.169 HNSCC(58;0.16) 7 30 --- --- --- --- PASS OIT3 170392 broad.mit.edu 37 10 74684033 74684033 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:74684033C>A uc001jte.1 + 7 1216 c.998C>A c.(997-999)CCC>CAC p.P333H OIT3_uc009xqs.1_Intron NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 333 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) ACAGGTCTACCCAAGCAGACC 0.552 21 161 --- --- --- --- PASS PSD 5662 broad.mit.edu 37 10 104174911 104174911 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:104174911C>A uc001kvg.1 - 4 1360 c.833G>T c.(832-834)GGG>GTG p.G278V PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.G278V NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 278 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGCTGCTCGCCCCACAGCCAC 0.657 13 60 --- --- --- --- PASS BCCIP 56647 broad.mit.edu 37 10 127524721 127524721 + Missense_Mutation SNP T A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:127524721T>A uc001ljb.3 + 7 846 c.823T>A c.(823-825)TGT>AGT p.C275S BCCIP_uc001ljd.3_Intron|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron NM_078468 NP_510868 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A-interacting protein isoform 275 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding ovary(1)|breast(1) 2 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GAGCGACACTTGTCTGGGAGG 0.423 31 190 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129905711 129905711 + Missense_Mutation SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr10:129905711C>G uc001lke.2 - 13 4588 c.4393G>C c.(4393-4395)GAA>CAA p.E1465Q MKI67_uc001lkf.2_Missense_Mutation_p.E1105Q|MKI67_uc009yav.1_Missense_Mutation_p.E1040Q|MKI67_uc009yaw.1_Missense_Mutation_p.E615Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1465 16 X 122 AA approximate repeats.|4. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCCAGGTCTTCTAGGGGTTGG 0.498 57 231 --- --- --- --- PASS OR52A1 23538 broad.mit.edu 37 11 5173278 5173278 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:5173278T>C uc010qyy.1 - 1 322 c.322A>G c.(322-324)ACA>GCA p.T108A NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 108 Helical; Name=3; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCTGCAATGTGTGGATGAAC 0.453 4 32 --- --- --- --- PASS TRIM22 10346 broad.mit.edu 37 11 5730645 5730645 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:5730645G>C uc001mbr.2 + 8 1541 c.1264G>C c.(1264-1266)GAG>CAG p.E422Q TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.E418Q|TRIM22_uc010qzm.1_Missense_Mutation_p.E250Q|TRIM22_uc009yeu.2_Missense_Mutation_p.E233Q|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 422 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TAATGCTTTTGAGGACTCCTC 0.408 15 177 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048128 6048128 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:6048128G>A uc010qzw.1 - 1 807 c.807C>T c.(805-807)AAC>AAT p.N269N NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCTGGCCACGTTTGTCAACA 0.522 49 114 --- --- --- --- PASS DENND5A 23258 broad.mit.edu 37 11 9200611 9200611 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:9200611G>A uc001mhl.2 - 7 1720 c.1465C>T c.(1465-1467)CGT>TGT p.R489C DENND5A_uc010rbw.1_Missense_Mutation_p.R489C|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 489 liver(1) 1 GGGTCTTCACGCACTTCCAAC 0.363 44 118 --- --- --- --- PASS MRGPRX4 117196 broad.mit.edu 37 11 18194896 18194896 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:18194896G>A uc001mnv.1 + 1 513 c.93G>A c.(91-93)ACG>ACA p.T31T NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 31 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 TGAGCTTCACGGTGCTGACGT 0.547 64 192 --- --- --- --- PASS LGR4 55366 broad.mit.edu 37 11 27395522 27395522 + Missense_Mutation SNP A C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:27395522A>C uc001mrj.3 - 14 1738 c.1253T>G c.(1252-1254)CTA>CGA p.L418R LGR4_uc001mrk.3_Missense_Mutation_p.L394R NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 418 LRR 15.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 ATCCACTTACAGGTTAGTTAT 0.328 96 347 --- --- --- --- PASS OR4B1 119765 broad.mit.edu 37 11 48238741 48238741 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:48238741C>T uc010rhs.1 + 1 380 c.380C>T c.(379-381)CCT>CTT p.P127L NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 ATTTGCAAGCCTCTTCATTAT 0.463 61 112 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55872975 55872975 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:55872975T>C uc010riy.1 + 1 457 c.457T>C c.(457-459)TTT>CTT p.F153L NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TGTGATTGGCTTTATAGACTC 0.443 HNSCC(53;0.14) 82 245 --- --- --- --- PASS OR5R1 219479 broad.mit.edu 37 11 56184866 56184866 + Silent SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:56184866C>T uc010rji.1 - 1 843 c.843G>A c.(841-843)GTG>GTA p.V281V NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ACATGGGGATCACCACTGTGT 0.388 22 213 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62287374 62287374 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:62287374T>C uc001ntl.2 - 5 14815 c.14515A>G c.(14515-14517)ATG>GTG p.M4839V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4839 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATTTCAGGCATCTTGAACTTG 0.463 57 189 --- --- --- --- PASS DHCR7 1717 broad.mit.edu 37 11 71152283 71152283 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:71152283C>T uc001oqk.2 - 6 866 c.616G>A c.(616-618)GCC>ACC p.A206T DHCR7_uc001oql.2_Missense_Mutation_p.A206T NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 206 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) CAGTCTCTGGCGCTGGTGGGG 0.562 Smith-Lemli-Opitz_syndrome 36 67 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124756583 124756583 + Silent SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:124756583C>T uc001qbg.2 - 16 2711 c.2571G>A c.(2569-2571)CTG>CTA p.L857L ROBO4_uc010sas.1_Silent_p.L712L|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Silent_p.L415L NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 857 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GAGGTGGGCACAGCAAGACTC 0.667 10 24 --- --- --- --- PASS FLI1 2313 broad.mit.edu 37 11 128680570 128680570 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr11:128680570C>T uc010sbu.1 + 9 1387 c.1046C>T c.(1045-1047)ACC>ATC p.T349I FLI1_uc010sbt.1_Missense_Mutation_p.T156I|FLI1_uc010sbv.1_Missense_Mutation_p.T316I|FLI1_uc009zci.2_Missense_Mutation_p.T283I NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 349 ETS. hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) AACATTATGACCAAAGTGCAC 0.517 T EWSR1 Ewing sarcoma 7 37 --- --- --- --- PASS MRPS35 60488 broad.mit.edu 37 12 27863870 27863870 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr12:27863870G>T uc001rih.2 + 1 142 c.94G>T c.(94-96)GTC>TTC p.V32F MRPS35_uc001rii.2_Missense_Mutation_p.V32F NM_021821 NP_068593 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 precursor 32 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit 0 Lung SC(9;0.0873) GGCCACTCCGGTCCCGACACC 0.657 13 27 --- --- --- --- PASS FGD4 121512 broad.mit.edu 37 12 32764098 32764098 + Missense_Mutation SNP T A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr12:32764098T>A uc001rkz.2 + 10 1696 c.1219T>A c.(1219-1221)TAT>AAT p.Y407N FGD4_uc001rlc.2_Missense_Mutation_p.Y492N|FGD4_uc001rky.2_Missense_Mutation_p.Y159N|FGD4_uc001rla.2_Missense_Mutation_p.Y63N|FGD4_uc010ske.1_Missense_Mutation_p.Y519N|FGD4_uc001rlb.1_RNA NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 407 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) CTTAGAGATTTATGAAATGTT 0.363 23 130 --- --- --- --- PASS SDR9C7 121214 broad.mit.edu 37 12 57324196 57324196 + Missense_Mutation SNP T A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr12:57324196T>A uc010sqw.1 - 2 374 c.374A>T c.(373-375)GAC>GTC p.D125V NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 125 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 CTTCACAAAGTCATCCTTGGT 0.557 32 56 --- --- --- --- PASS TBC1D15 64786 broad.mit.edu 37 12 72274315 72274315 + Missense_Mutation SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr12:72274315C>G uc001swu.2 + 4 346 c.337C>G c.(337-339)CTG>GTG p.L113V TBC1D15_uc009zrv.2_Translation_Start_Site|TBC1D15_uc010stt.1_Missense_Mutation_p.L99V|TBC1D15_uc001swv.2_Missense_Mutation_p.L113V|TBC1D15_uc001sww.2_Translation_Start_Site NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 91 protein binding|Rab GTPase activator activity 0 ATCAGAACATCTGAACAGTTA 0.328 10 54 --- --- --- --- PASS PARP4 143 broad.mit.edu 37 13 25029274 25029274 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr13:25029274C>A uc001upl.2 - 22 2745 c.2639G>T c.(2638-2640)TGT>TTT p.C880F PARP4_uc010tdc.1_Missense_Mutation_p.C880F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 880 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GCAGTCAAGACAAATAATCAC 0.502 60 131 --- --- --- --- PASS HMGB1 3146 broad.mit.edu 37 13 31036834 31036834 + Silent SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr13:31036834G>T uc001usw.2 - 4 496 c.312C>A c.(310-312)CTC>CTA p.L104L HMGB1_uc001usz.2_Silent_p.L104L|HMGB1_uc001usv.2_Silent_p.L104L|HMGB1_uc001usx.2_Silent_p.L104L|HMGB1_uc001usy.2_Silent_p.L65L|HMGB1_uc001uta.1_Silent_p.L104L NM_002128 NP_002119 P09429 HMGB1_HUMAN high-mobility group box 1 104 HMG box 2. base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding ovary(1) 1 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CAGAGCAGAAGAGGAAGAAGG 0.373 36 51 --- --- --- --- PASS FNDC3A 22862 broad.mit.edu 37 13 49710725 49710725 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr13:49710725A>G uc001vcm.2 + 6 1053 c.748A>G c.(748-750)ACA>GCA p.T250A FNDC3A_uc001vcl.1_Missense_Mutation_p.T250A|FNDC3A_uc001vcn.2_Missense_Mutation_p.T250A|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.T194A|FNDC3A_uc001vcq.2_Missense_Mutation_p.T194A NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 250 Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ACAAGTTGATACAGAAATTGA 0.353 29 68 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30066893 30066893 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr14:30066893G>A uc001wqh.2 - 16 2419 c.2238C>T c.(2236-2238)ACC>ACT p.T746T NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 746 Protein kinase. 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) GGTAAGCGGGGGTACCCACCA 0.488 68 102 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64522939 64522939 + Nonsense_Mutation SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr14:64522939C>G uc001xgm.2 + 49 10252 c.10022C>G c.(10021-10023)TCA>TGA p.S3341* SYNE2_uc001xgl.2_Nonsense_Mutation_p.S3341*|SYNE2_uc010apw.1_Nonsense_Mutation_p.S47* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3341 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCTAAGAACTCAGCAATGAAG 0.403 26 70 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64608107 64608107 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr14:64608107A>G uc001xgm.2 + 81 15255 c.15025A>G c.(15025-15027)ATC>GTC p.I5009V SYNE2_uc001xgl.2_Missense_Mutation_p.I5009V|SYNE2_uc010apy.2_Missense_Mutation_p.I1394V|SYNE2_uc001xgn.2_5'UTR|SYNE2_uc001xgo.2_RNA NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5009 Spectrin 1.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GACTGCCGTTATCAGTATCGG 0.348 69 143 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64625421 64625421 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr14:64625421A>G uc001xgm.2 + 86 16101 c.15871A>G c.(15871-15873)ATG>GTG p.M5291V SYNE2_uc001xgl.2_Missense_Mutation_p.M5291V|SYNE2_uc010apy.2_Missense_Mutation_p.M1676V|SYNE2_uc001xgn.2_Missense_Mutation_p.M253V|SYNE2_uc001xgo.2_RNA|SYNE2_uc001xgp.2_Missense_Mutation_p.M20V NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5291 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGAAGTGAATATGATGACAAT 0.418 25 94 --- --- --- --- PASS IFI27L2 83982 broad.mit.edu 37 14 94594942 94594942 + Silent SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr14:94594942G>C uc001ycq.2 - 3 164 c.108C>G c.(106-108)TCC>TCG p.S36S NM_032036 NP_114425 Q9H2X8 I27L2_HUMAN TLH29 protein precursor 36 integral to membrane 0 CTGCTATGGAGGACGCGGCGA 0.637 11 53 --- --- --- --- PASS SERPINA6 866 broad.mit.edu 37 14 94770791 94770791 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr14:94770791G>T uc001ycv.2 - 5 1286 c.1182C>A c.(1180-1182)AGC>AGA p.S394R SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 394 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GGAAAAGGCTGCTCCAGGTGA 0.537 25 117 --- --- --- --- PASS HHIPL1 84439 broad.mit.edu 37 14 100129256 100129256 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr14:100129256C>A uc010avs.2 + 6 1611 c.1546C>A c.(1546-1548)CAG>AAG p.Q516K HHIPL1_uc001ygl.1_Missense_Mutation_p.Q516K NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 516 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) AGGCCAGTGGCAGTACAGTGA 0.592 38 116 --- --- --- --- PASS CHP 11261 broad.mit.edu 37 15 41523623 41523623 + Missense_Mutation SNP G C C rs139642745 TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr15:41523623G>C uc001znl.2 + 1 187 c.43G>C c.(43-45)GAG>CAG p.E15Q EXD1_uc001znk.2_5'Flank|EXD1_uc010ucv.1_5'Flank NM_007236 NP_009167 Q99653 CHP1_HUMAN calcium binding protein P22 15 potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143) GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169) CGAAGAGCTCGAGGAGATCAA 0.652 2 16 --- --- --- --- PASS CGNL1 84952 broad.mit.edu 37 15 57730751 57730751 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr15:57730751A>G uc002aeg.2 + 2 630 c.554A>G c.(553-555)AAT>AGT p.N185S CGNL1_uc010bfw.2_Missense_Mutation_p.N185S NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 185 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GGCATCAACAATAAGAAGCCT 0.443 61 105 --- --- --- --- PASS C15orf27 123591 broad.mit.edu 37 15 76496130 76496130 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr15:76496130T>C uc002bbq.2 + 11 1225 c.1070T>C c.(1069-1071)ATA>ACA p.I357T C15orf27_uc010bkp.2_Missense_Mutation_p.I173T|C15orf27_uc002bbr.2_Missense_Mutation_p.I173T|C15orf27_uc002bbs.2_Missense_Mutation_p.I35T NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 357 integral to membrane 0 ACGGCCGCAATAGACATTCAC 0.597 56 107 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86262404 86262404 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr15:86262404G>T uc002blv.1 + 23 6269 c.6099G>T c.(6097-6099)CAG>CAT p.Q2033H AKAP13_uc002blu.1_Missense_Mutation_p.Q2037H|AKAP13_uc010bnf.1_Missense_Mutation_p.Q654H|AKAP13_uc002blw.1_Missense_Mutation_p.Q498H|AKAP13_uc002blx.1_Missense_Mutation_p.Q278H NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2033 Interaction with ESR1.|DH. 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TTGAGCAGCAGATGGTAGAAA 0.483 23 45 --- --- --- --- PASS NME3 4832 broad.mit.edu 37 16 1820909 1820909 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr16:1820909C>T uc002cmm.2 - 4 540 c.365G>A c.(364-366)CGC>CAC p.R122H NME3_uc010brv.2_RNA|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank NM_002513 NP_002504 Q13232 NDK3_HUMAN nucleoside diphosphate kinase 3 122 ATP (By similarity). apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process ATP binding|metal ion binding|nucleoside diphosphate kinase activity 0 GAAATCCCCGCGGATGGTGCC 0.726 15 41 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18846334 18846334 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr16:18846334A>G uc002dfm.2 - 49 8573 c.8210T>C c.(8209-8211)GTT>GCT p.V2737A SMG1_uc010bwb.2_Missense_Mutation_p.V2597A|SMG1_uc010bwa.2_Missense_Mutation_p.V1468A NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2737 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 ATCTTCACAAACTGGCACAGT 0.413 66 309 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18870957 18870957 + Nonsense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr16:18870957G>A uc002dfm.2 - 27 4237 c.3874C>T c.(3874-3876)CAA>TAA p.Q1292* SMG1_uc010bwb.2_Nonsense_Mutation_p.Q1152*|SMG1_uc010bwa.2_Nonsense_Mutation_p.Q23* NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1292 FAT.|Interaction with SMG8 and SMG9. Q -> P. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CTTAACAATTGAACTTCAATG 0.373 23 49 --- --- --- --- PASS TMC7 79905 broad.mit.edu 37 16 19027840 19027840 + Missense_Mutation SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr16:19027840C>G uc002dfq.2 + 3 510 c.380C>G c.(379-381)TCT>TGT p.S127C TMC7_uc010vao.1_Missense_Mutation_p.S127C|TMC7_uc002dfp.2_Missense_Mutation_p.S127C|TMC7_uc010vap.1_Missense_Mutation_p.S17C NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 127 Extracellular (Potential). integral to membrane skin(2)|ovary(1) 3 AGCAGCAAGTCTTGGAAGAGG 0.507 27 53 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20996734 20996734 + Missense_Mutation SNP C T T rs146558827 TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr16:20996734C>T uc010vbe.1 - 48 7330 c.7330G>A c.(7330-7332)GCC>ACC p.A2444T DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2444 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GACAGTTTGGCGGCACTTTGC 0.527 15 26 --- --- --- --- PASS ALDOA 226 broad.mit.edu 37 16 30080950 30080950 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr16:30080950C>T uc002dvw.2 + 10 1883 c.755C>T c.(754-756)GCG>GTG p.A252V uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.A252V|ALDOA_uc002dvy.2_Missense_Mutation_p.A252V|ALDOA_uc002dvz.2_Missense_Mutation_p.A252V|ALDOA_uc002dwa.3_Missense_Mutation_p.A252V|ALDOA_uc002dwb.1_Missense_Mutation_p.A252V|ALDOA_uc002dwc.2_Missense_Mutation_p.A252V|ALDOA_uc010veg.1_Missense_Mutation_p.A306V|ALDOA_uc002dwd.2_Missense_Mutation_p.A256V NM_184043 NP_908932 P04075 ALDOA_HUMAN fructose-bisphosphate aldolase A 252 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding lung(1) 1 ATTGCCATGGCGACCGTCACA 0.577 OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 62 --- --- --- --- PASS GPT2 84706 broad.mit.edu 37 16 46943685 46943685 + Silent SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr16:46943685C>T uc002eel.2 + 6 760 c.666C>T c.(664-666)GTC>GTT p.V222V GPT2_uc002eem.2_Silent_p.V122V NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 222 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) ATTCAGCTGTCATCTCTGAGC 0.582 35 118 --- --- --- --- PASS GFOD2 81577 broad.mit.edu 37 16 67709234 67709234 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr16:67709234C>T uc002eub.2 - 3 1277 c.982G>A c.(982-984)GAC>AAC p.D328N GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.D223N NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 328 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) GGGGTGCGGTCCCAGGTGCGG 0.667 43 100 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 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) 20 48 --- --- --- --- PASS NOS2 4843 broad.mit.edu 37 17 26099414 26099414 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr17:26099414G>T uc002gzu.2 - 14 1888 c.1624C>A c.(1624-1626)CTC>ATC p.L542I NOS2_uc010crh.1_Missense_Mutation_p.L542I|NOS2_uc010wab.1_Missense_Mutation_p.L542I NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 542 Flavodoxin-like. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GTCGCAAAGAGGATGGTGACT 0.582 23 57 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32963126 32963126 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr17:32963126G>A uc002hif.2 + 9 2136 c.1808G>A c.(1807-1809)AGC>AAC p.S603N NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 603 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GTGGTGGCCAGCCTGGCCCTC 0.647 9 23 --- --- --- --- PASS NXPH3 11248 broad.mit.edu 37 17 47656181 47656181 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr17:47656181C>T uc002ipa.2 + 2 562 c.278C>T c.(277-279)TCA>TTA p.S93L NXPH3_uc010wlw.1_Missense_Mutation_p.S93L NM_007225 NP_009156 O95157 NXPH3_HUMAN neurexophilin 3 precursor 93 III. neuropeptide signaling pathway extracellular region pancreas(1)|skin(1) 2 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CCCCCACCCTCAGCCAAGGTG 0.617 11 42 --- --- --- --- PASS DGKE 8526 broad.mit.edu 37 17 54926589 54926589 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr17:54926589C>T uc002iur.2 + 7 1274 c.1094C>T c.(1093-1095)CCC>CTC p.P365L DGKE_uc002ius.1_Missense_Mutation_p.P365L NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 365 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) TTAAGAAAACCCAAGGTATGT 0.383 11 102 --- --- --- --- PASS UNK 85451 broad.mit.edu 37 17 73811302 73811302 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr17:73811302G>T uc002jpm.2 + 8 1157 c.1157G>T c.(1156-1158)CGA>CTA p.R386L NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 310 C3H1-type 5. nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCTGTCCCCGAGGACCCTTC 0.637 58 168 --- --- --- --- PASS SEPT9 10801 broad.mit.edu 37 17 75398373 75398373 + Silent SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr17:75398373G>T uc002jts.3 + 3 435 c.309G>T c.(307-309)CCG>CCT p.P103P SEPT9_uc010wtk.1_Silent_p.P84P|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Silent_p.P85P|SEPT9_uc002jtv.2_Silent_p.P96P|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank NM_001113491 NP_001106963 Q9UHD8 SEPT9_HUMAN septin 9 isoform a 103 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding|protein binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(99;0.153) CGGCCGAGCCGGTGTCCCGGC 0.697 3 6 --- --- --- --- PASS ADCYAP1 116 broad.mit.edu 37 18 909481 909481 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr18:909481G>A uc010dkg.2 + 5 495 c.376G>A c.(376-378)GAG>AAG p.E126K ADCYAP1_uc010dkh.2_Missense_Mutation_p.E126K NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 126 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding 0 GGACGACGCGGAGCCGCTCTC 0.667 28 62 --- --- --- --- PASS PIK3C3 5289 broad.mit.edu 37 18 39593460 39593460 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr18:39593460G>A uc002lap.2 + 11 1283 c.1225G>A c.(1225-1227)GAT>AAT p.D409N PIK3C3_uc010xcl.1_Missense_Mutation_p.D346N NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 409 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 TGAAAATTTTGATGATATAAA 0.313 TSP Lung(28;0.18) 24 260 --- --- --- --- PASS CCDC11 220136 broad.mit.edu 37 18 47792749 47792749 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr18:47792749A>G uc002lee.2 - 1 117 c.26T>C c.(25-27)GTA>GCA p.V9A NM_145020 NP_659457 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 9 ovary(1)|pancreas(1)|skin(1) 3 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) CTCCCGCTGTACGGTGCCAAA 0.632 37 154 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56274624 56274624 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr18:56274624C>T uc002lhj.3 - 3 371 c.157G>A c.(157-159)GAT>AAT p.D53N NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 53 Ig-like 1. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CCACTCCCATCGATGGCCTGA 0.373 33 116 --- --- --- --- PASS PRTN3 5657 broad.mit.edu 37 19 847957 847957 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:847957G>A uc002lqa.1 + 5 783 c.759G>A c.(757-759)AAG>AAA p.K253K NM_002777 NP_002768 P24158 PRTN3_HUMAN myeloblastin 253 collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity ovary(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGGAGGCCAAGGGCCGCCCCT 0.662 3 10 --- --- --- --- PASS RGL3 57139 broad.mit.edu 37 19 11527689 11527689 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:11527689G>A uc002mrp.2 - 3 256 c.192C>T c.(190-192)AGC>AGT p.S64S RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.S64S|RGL3_uc002mrq.2_Silent_p.S64S NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 64 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 CCCTCACCTTGCTGGTTCGAT 0.637 17 28 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13616887 13616887 + Nonsense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:13616887G>T uc010dze.2 - 1 388 c.152C>A c.(151-153)TCA>TAA p.S51* CACNA1A_uc002mwy.3_Nonsense_Mutation_p.S51* NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 51 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CTGCGCCATTGACTGCTTGTA 0.687 5 26 --- --- --- --- PASS PIK3R2 5296 broad.mit.edu 37 19 18277041 18277041 + Missense_Mutation SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:18277041G>C uc002nia.1 + 12 2000 c.1488G>C c.(1486-1488)CAG>CAC p.Q496H PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 496 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 AGCAGGGCCAGACTCAAGAGA 0.567 31 57 --- --- --- --- PASS LRP3 4037 broad.mit.edu 37 19 33698458 33698458 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:33698458G>T uc010edh.2 + 7 2383 c.2290G>T c.(2290-2292)GAT>TAT p.D764Y LRP3_uc002nuk.3_Missense_Mutation_p.D638Y NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 764 Cytoplasmic (Potential). receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) GGCCAGCGATGATGAGGCCCT 0.657 11 41 --- --- --- --- PASS ZNF546 339327 broad.mit.edu 37 19 40519754 40519754 + Missense_Mutation SNP G A A rs144973655 TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:40519754G>A uc002oms.2 + 7 833 c.577G>A c.(577-579)GTT>ATT p.V193I ZNF546_uc002omt.2_Missense_Mutation_p.V167I NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GATGGGATGCGTTAGTCAAAT 0.358 30 87 --- --- --- --- PASS SYT3 84258 broad.mit.edu 37 19 51132654 51132654 + Missense_Mutation SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:51132654G>A uc002pst.2 - 4 1812 c.1178C>T c.(1177-1179)TCG>TTG p.S393L SYT3_uc002psv.2_Missense_Mutation_p.S393L|SYT3_uc010ycd.1_Missense_Mutation_p.S393L NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 393 C2 1.|Cytoplasmic (Potential). Calcium 3 (By similarity). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GTCGTGCCGCGAGAAGCGGTC 0.637 24 28 --- --- --- --- PASS ZNF71 58491 broad.mit.edu 37 19 57133481 57133481 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:57133481G>T uc002qnm.3 + 3 1064 c.826G>T c.(826-828)GGG>TGG p.G276W NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 276 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CCCCGAGTGCGGGCGAGCCTT 0.662 30 33 --- --- --- --- PASS JAG1 182 broad.mit.edu 37 20 10622443 10622443 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr20:10622443G>A uc002wnw.2 - 22 3186 c.2670C>T c.(2668-2670)ATC>ATT p.I890I JAG1_uc010gcd.1_Silent_p.I448I NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 890 Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 TTGAGCAGGCGATCCGTCCAT 0.527 Alagille_Syndrome 25 185 --- --- --- --- PASS C20orf7 79133 broad.mit.edu 37 20 13782282 13782282 + Missense_Mutation SNP G A A rs149637004 TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr20:13782282G>A uc002wom.2 + 7 703 c.670G>A c.(670-672)GAC>AAC p.D224N C20orf7_uc002wol.1_3'UTR|C20orf7_uc002won.2_Missense_Mutation_p.D196N|C20orf7_uc002woo.2_RNA NM_024120 NP_077025 Q5TEU4 CT007_HUMAN hypothetical protein LOC79133 isoform 1 224 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity 0 Myeloproliferative disorder(85;0.00878) TGCTGTCAATGACCTGGGACA 0.438 27 101 --- --- --- --- PASS C20orf160 140706 broad.mit.edu 37 20 30616874 30616874 + Silent SNP G C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr20:30616874G>C uc002wxf.2 + 7 1159 c.1146G>C c.(1144-1146)GCG>GCC p.A382A C20orf160_uc002wxg.2_5'UTR NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 Error:Variant_position_missing_in_Q9NUG4_after_alignment central_nervous_system(3)|ovary(1) 4 CCACTGCAGCGGCAGCGACCA 0.493 30 226 --- --- --- --- PASS CEBPB 1051 broad.mit.edu 37 20 48808476 48808476 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr20:48808476G>A uc002xvi.1 + 1 1101 c.906G>A c.(904-906)AAG>AAA p.K302K CEBPB_uc002xvh.2_RNA NM_005194 NP_005185 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein beta 302 acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) CGCAGCACAAGGTCCTGGAGC 0.637 11 39 --- --- --- --- PASS KRTAP13-1 140258 broad.mit.edu 37 21 31768611 31768611 + Silent SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr21:31768611C>T uc002yoa.2 + 1 220 c.207C>T c.(205-207)TCC>TCT p.S69S NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 69 3.|5 X 10 AA approximate repeats. intermediate filament ovary(1) 1 GCCAGACATCCTATGTGGAGT 0.602 28 39 --- --- --- --- PASS KRTAP13-1 140258 broad.mit.edu 37 21 31768915 31768915 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr21:31768915T>C uc002yoa.2 + 1 524 c.511T>C c.(511-513)TAC>CAC p.Y171H NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 171 intermediate filament ovary(1) 1 ATCAGGCTTCTACTATTGATC 0.443 11 31 --- --- --- --- PASS SIK1 150094 broad.mit.edu 37 21 44837498 44837498 + Missense_Mutation SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr21:44837498C>T uc002zdf.2 - 13 2028 c.1901G>A c.(1900-1902)AGC>AAC p.S634N NM_173354 NP_775490 P57059 SIK1_HUMAN salt-inducible kinase 1 634 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1) 7 CAGGCCTGGGCTCTGTGCAGG 0.736 4 10 --- --- --- --- PASS RRP1 8568 broad.mit.edu 37 21 45217800 45217800 + Missense_Mutation SNP G T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr21:45217800G>T uc002zds.2 + 8 723 c.630G>T c.(628-630)TTG>TTT p.L210F RRP1_uc011aez.1_Missense_Mutation_p.L210F|RRP1_uc010gpk.1_Missense_Mutation_p.L60F|RRP1_uc010gpl.1_Missense_Mutation_p.L108F|RRP1_uc010gpm.1_Missense_Mutation_p.L77F NM_003683 NP_003674 P56182 RRP1_HUMAN ribosomal RNA processing 1 homolog 210 rRNA processing nucleolus|preribosome, small subunit precursor 0 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CCTTGGTTTTGAACAACATCA 0.582 3 51 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47783431 47783431 + Missense_Mutation SNP C G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr21:47783431C>G uc002zji.3 + 14 2298 c.2191C>G c.(2191-2193)CTA>GTA p.L731V PCNT_uc002zjj.2_Missense_Mutation_p.L613V NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 731 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CCAGAAGGAACTAAATAATGC 0.383 46 123 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26304368 26304368 + Missense_Mutation SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr22:26304368T>C uc003abz.1 + 32 5478 c.5228T>C c.(5227-5229)CTG>CCG p.L1743P MYO18B_uc003aca.1_Missense_Mutation_p.L1624P|MYO18B_uc010guy.1_Missense_Mutation_p.L1625P|MYO18B_uc010guz.1_Missense_Mutation_p.L1623P|MYO18B_uc011aka.1_Missense_Mutation_p.L897P|MYO18B_uc011akb.1_Missense_Mutation_p.L1256P NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1743 Potential.|Tail.|Gln-rich. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GAGGAGGAACTGGAGGATGTC 0.602 4 5 --- --- --- --- PASS MEI1 150365 broad.mit.edu 37 22 42166741 42166741 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr22:42166741C>A uc003baz.1 + 20 2345 c.2320C>A c.(2320-2322)CTA>ATA p.L774I WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.L160I|MEI1_uc003bbc.1_Missense_Mutation_p.L142I|MEI1_uc010gym.1_Missense_Mutation_p.L142I|MEI1_uc003bbd.1_Missense_Mutation_p.L17I NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 774 binding central_nervous_system(1)|skin(1) 2 AGACCTGCAGCTAGTCTATAC 0.483 3 53 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31341742 31341742 + Missense_Mutation SNP G A A rs128626254 TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chrX:31341742G>A uc004dda.1 - 62 9441 c.9197C>T c.(9196-9198)TCG>TTG p.S3066L DMD_uc004dcq.1_Missense_Mutation_p.S337L|DMD_uc004dcr.1_Missense_Mutation_p.S606L|DMD_uc004dcs.1_Missense_Mutation_p.S606L|DMD_uc004dct.1_Missense_Mutation_p.S606L|DMD_uc004dcu.1_Missense_Mutation_p.S606L|DMD_uc004dcv.1_Missense_Mutation_p.S606L|DMD_uc004dcw.2_Missense_Mutation_p.S1722L|DMD_uc004dcx.2_Missense_Mutation_p.S1725L|DMD_uc004dcz.2_Missense_Mutation_p.S2943L|DMD_uc004dcy.1_Missense_Mutation_p.S3062L|DMD_uc004ddb.1_Missense_Mutation_p.S3058L NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3066 Interaction with SYNM (By similarity).|WW. 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) TTTGTTTGGCGAGATGGCTCT 0.403 20 28 --- --- --- --- PASS PIM2 11040 broad.mit.edu 37 X 48775922 48775922 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chrX:48775922C>A uc004dls.2 - 2 364 c.62G>T c.(61-63)GGA>GTA p.G21V NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN serine/threonine protein kinase pim-2 21 anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 ATCCTTGCCTCCTACGCAGGC 0.677 3 24 --- --- --- --- PASS AR 367 broad.mit.edu 37 X 66943546 66943546 + Missense_Mutation SNP C A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chrX:66943546C>A uc004dwu.1 + 8 3741 c.2626C>A c.(2626-2628)CAG>AAG p.Q876K AR_uc004dwv.1_Missense_Mutation_p.Q344K NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 875 Ligand-binding.|Interaction with MYST2. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) AGAGCTGCATCAGTTCACTTT 0.483 Androgen_Insensitivity_Syndrome 71 72 --- --- --- --- PASS PHKA1 5255 broad.mit.edu 37 X 71932781 71932781 + Splice_Site SNP T C C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chrX:71932781T>C uc004eax.3 - 2 380 c.79_splice c.e2-1 p.N27_splice PHKA1_uc004eay.3_Splice_Site_p.N27_splice|PHKA1_uc011mqi.1_Splice_Site_p.N27_splice NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) CACTGGATTCTGCAAGGTCAA 0.463 14 13 --- --- --- --- PASS MAGEE2 139599 broad.mit.edu 37 X 75003366 75003366 + Missense_Mutation SNP C A A rs150153753 byFrequency TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chrX:75003366C>A uc004ecj.1 - 1 1706 c.1521G>T c.(1519-1521)GAG>GAT p.E507D NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 507 ovary(1)|skin(1) 2 TGGCTCTGGCCTCCTCATCTT 0.458 23 30 --- --- --- --- PASS ARHGEF6 9459 broad.mit.edu 37 X 135758808 135758808 + Silent SNP C T T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chrX:135758808C>T uc004fab.2 - 18 2382 c.1920G>A c.(1918-1920)TCG>TCA p.S640S ARHGEF6_uc011mwd.1_Silent_p.S513S|ARHGEF6_uc011mwe.1_Silent_p.S486S NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 640 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) ATTCCTCCTCCGATGGTTTTC 0.323 25 47 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142795447 142795447 + Silent SNP G A A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chrX:142795447G>A uc004fbz.2 - 2 985 c.231C>T c.(229-231)TCC>TCT p.S77S NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 77 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CGGGATTGATGGAGTTCTCTC 0.438 66 166 --- --- --- --- PASS TSPY2 64591 broad.mit.edu 37 Y 6115610 6115610 + Missense_Mutation SNP A G G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chrY:6115610A>G uc004fqr.1 + 3 618 c.572A>G c.(571-573)GAA>GGA p.E191G TSPY2_uc004fqs.1_Missense_Mutation_p.E191G NM_022573 NP_072095 A6NKD2 TSPY2_HUMAN testis specific protein, Y-linked 2 191 cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus 0 CAGGTGGAAGAAGAGAAGCAT 0.448 25 105 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 1 243251423 243251423 + RNA DEL A - - TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr1:243251423delA uc001hzq.1 - 8 c.1209delT Homo sapiens cDNA FLJ52610 complete cds. actccatctcaaaaaaaaaaa 0.179 6 3 --- --- --- --- SPDYE7P 441251 broad.mit.edu 37 7 72333390 72333390 + RNA DEL C - - TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr7:72333390delC uc010lal.1 - 1 c.6266delG NR_003666 Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA. 0 AAGGACCCCACCCCCCTCCCC 0.493 38 36 --- --- --- --- LOC284232 284232 broad.mit.edu 37 13 19420047 19420053 + RNA DEL TTCGTAT - - rs117180361 by1000genomes TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr13:19420047_19420053delTTCGTAT uc010tcj.1 - 1 c.26057_26063delATACGAA NR_027995 Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA. 0 ATAACATTTCTTCGTATTTTATATTTT 0.246 3 3 --- --- --- --- SF3A2 8175 broad.mit.edu 37 19 2248165 2248185 + In_Frame_Del DEL CCAGCCCCCGGGGTTCACCCA - - rs144349304 TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx aa02c83c-7ef0-400d-bd8d-729dacda6352 69fd7f79-6e6c-44df-9734-543da03612a1 g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA uc002lvg.2 + 9 1137_1157 c.1015_1035delCCAGCCCCCGGGGTTCACCCA c.(1015-1035)CCAGCCCCCGGGGTTCACCCAdel p.PAPGVHP360del AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank NM_007165 NP_009096 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2 360_366 Pro-rich. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding 0 Hepatocellular(1079;0.137) 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) AGTCCACCCTCCAGCCCCCGGGGTTCACCCACCAGCCCCCG 0.742 3 4 --- --- --- ---