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 CPSF3L 54973 broad.mit.edu 37 1 1256376 1256376 + Silent SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:1256376G>A uc001aee.1 - 2 184 c.126C>T c.(124-126)GAC>GAT p.D42D CPSF3L_uc001aef.1_Silent_p.D48D|CPSF3L_uc009vjz.1_Silent_p.D42D|CPSF3L_uc010nyj.1_Silent_p.D13D|CPSF3L_uc001aeg.1_Translation_Start_Site|CPSF3L_uc001aeh.1_Silent_p.D42D|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aej.1_Missense_Mutation_p.T15I|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001aem.1_Silent_p.D42D|CPSF3L_uc001ael.1_Translation_Start_Site|CPSF3L_uc001aen.1_Silent_p.D42D NM_017871 NP_060341 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 42 Golgi apparatus|nucleus hydrolase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) AGGGACTCACGTCGTCATTGA 0.647 NPHP4 261734 broad.mit.edu 37 1 5937354 5937354 + Silent SNP T C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:5937354T>C uc001alq.1 - 20 2882 c.2616A>G c.(2614-2616)AAA>AAG p.K872K NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 872 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GCACCACGTGTTTTCCTGCGA 0.632 MACF1 23499 broad.mit.edu 37 1 39833905 39833905 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:39833905C>T uc010oiu.1 + 14 8308 c.8177C>T c.(8176-8178)GCG>GTG p.A2726V MACF1_uc010ois.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdc.1_Missense_Mutation_p.A1311V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4291 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) TGTGGCTTTGCGCTGGACTTG 0.453 CLCA2 9635 broad.mit.edu 37 1 86916416 86916416 + Missense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:86916416G>A uc001dlr.3 + 12 2317 c.2155G>A c.(2155-2157)GGT>AGT p.G719S NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 719 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CACAGCAAACGGTAAGAACCA 0.453 EPHX4 253152 broad.mit.edu 37 1 92528664 92528664 + Missense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:92528664G>A uc001don.2 + 7 1014 c.910G>A c.(910-912)GGA>AGA p.G304R NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 304 integral to membrane hydrolase activity central_nervous_system(1) 1 ACTACTGTGGGGAGAGAATGA 0.398 DPYD 1806 broad.mit.edu 37 1 98293688 98293688 + Missense_Mutation SNP G C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:98293688G>C uc001drv.2 - 3 352 c.215C>G c.(214-216)GCT>GGT p.A72G DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.A72G NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 72 4Fe-4S ferredoxin-type 1. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCTCGGAGAGCTCCTCGCTC 0.393 FLG 2312 broad.mit.edu 37 1 152280977 152280977 + Missense_Mutation SNP A G G TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:152280977A>G uc001ezu.1 - 3 6421 c.6385T>C c.(6385-6387)TCA>CCA p.S2129P NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2129 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGATGCTGAGTGCCTGGAG 0.572 Ichthyosis FLG 2312 broad.mit.edu 37 1 152282616 152282616 + Silent SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:152282616C>T uc001ezu.1 - 3 4782 c.4746G>A c.(4744-4746)GCG>GCA p.A1582A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1582 Ser-rich.|Filaggrin 9. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTGGACCCCGCTGATTCTC 0.602 Ichthyosis PKP1 5317 broad.mit.edu 37 1 201289494 201289494 + Silent SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:201289494C>T uc001gwd.2 + 8 1646 c.1395C>T c.(1393-1395)AGC>AGT p.S465S PKP1_uc001gwe.2_Silent_p.S444S|PKP1_uc009wzm.2_Silent_p.S52S NM_000299 NP_000290 Q13835 PKP1_HUMAN plakophilin 1 isoform 1b 465 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis ovary(2) 2 TAGCGGCCAGCCGCTGTGACG 0.612 USH2A 7399 broad.mit.edu 37 1 216061963 216061963 + Silent SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr1:216061963C>T uc001hku.1 - 41 8415 c.8028G>A c.(8026-8028)CCG>CCA p.P2676P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2676 Extracellular (Potential).|Fibronectin type-III 13. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATGACTCCTCGGGAGAGTCA 0.468 HNSCC(13;0.011) MAP3K11 4296 broad.mit.edu 37 11 65367001 65367001 + Silent SNP C A A rs138509783 TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr11:65367001C>A uc001oew.2 - 9 2563 c.2070G>T c.(2068-2070)CCG>CCT p.P690P MAP3K11_uc001oev.2_Silent_p.P106P|MAP3K11_uc010rol.1_Silent_p.P433P|MAP3K11_uc001oex.1_Silent_p.P197P NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 690 Pro-rich. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 GGGAAGGGGGCGGCTCGGTCG 0.736 ANKRD33 341405 broad.mit.edu 37 12 52284680 52284680 + Missense_Mutation SNP G C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr12:52284680G>C uc001rzf.3 + 5 1154 c.575G>C c.(574-576)AGT>ACT p.S192T ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.S317T|ANKRD33_uc001rze.2_Missense_Mutation_p.S213T|ANKRD33_uc001rzg.3_Missense_Mutation_p.S119T|ANKRD33_uc001rzi.3_Missense_Mutation_p.S192T NM_001130015 NP_001123487 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 isoform 1 192 0 BRCA - Breast invasive adenocarcinoma(357;0.0969) AGCCTGGCCAGTCCCTTCGTC 0.632 PAN2 9924 broad.mit.edu 37 12 56717611 56717611 + Missense_Mutation SNP A T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr12:56717611A>T uc001skx.2 - 14 2537 c.2164T>A c.(2164-2166)TGT>AGT p.C722S PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.C721S|PAN2_uc001sky.2_Missense_Mutation_p.C718S NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 722 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 TACTTTTCACAGGTGTCACAC 0.522 FGD6 55785 broad.mit.edu 37 12 95603097 95603097 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr12:95603097C>T uc001tdp.3 - 2 2187 c.1963G>A c.(1963-1965)GGA>AGA p.G655R FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 655 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 GTGGTGTCTCCGAGTTGGCTA 0.443 MIPEP 4285 broad.mit.edu 37 13 24330744 24330744 + Missense_Mutation SNP G A A rs148780512 byFrequency TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr13:24330744G>A uc001uox.3 - 18 2084 c.1984C>T c.(1984-1986)CGC>TGC p.R662C NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 662 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) CTGCGATAGCGCTCCCCGGCA 0.517 Unknown 0 broad.mit.edu 37 15 22440385 22440385 + Missense_Mutation SNP C A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr15:22440385C>A uc001yug.2 - 1 481 c.462G>T c.(460-462)AAG>AAT p.K154N full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). TTTTGGCATTCTTTTTCCTTT 0.468 FMN1 342184 broad.mit.edu 37 15 33359642 33359642 + Silent SNP A G G TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr15:33359642A>G uc001zhf.3 - 1 444 c.444T>C c.(442-444)TCT>TCC p.S148S FMN1_uc001zhg.2_Silent_p.S148S NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:Variant_position_missing_in_Q68DA7_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CATCAGAGTCAGAATCACTGG 0.522 SPATA5L1 79029 broad.mit.edu 37 15 45709546 45709546 + Silent SNP A G G TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr15:45709546A>G uc001zve.2 + 6 2026 c.1917A>G c.(1915-1917)TTA>TTG p.L639L SPATA5L1_uc001zvf.2_RNA NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 639 cytoplasm ATP binding|nucleoside-triphosphatase activity ovary(3)|skin(1) 4 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) CTGCTTTGTTACGACCTGGAA 0.393 VPS13C 54832 broad.mit.edu 37 15 62182532 62182532 + Missense_Mutation SNP C T T rs150364963 TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr15:62182532C>T uc002agz.2 - 67 9247 c.9173G>A c.(9172-9174)CGC>CAC p.R3058H VPS13C_uc002aha.2_Missense_Mutation_p.R3015H|VPS13C_uc002ahb.1_Missense_Mutation_p.R3058H|VPS13C_uc002ahc.1_Missense_Mutation_p.R3015H NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3058 protein localization ovary(2) 2 AACTCTCTGGCGCCCATCCAG 0.443 NR2F2 7026 broad.mit.edu 37 15 96877739 96877739 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr15:96877739C>T uc010uri.1 + 2 2101 c.877C>T c.(877-879)CGG>TGG p.R293W NR2F2_uc002btp.2_Missense_Mutation_p.R160W|NR2F2_uc010urj.1_Missense_Mutation_p.R140W|NR2F2_uc010urk.1_Missense_Mutation_p.R140W NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 293 Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GGACCACATACGGATCTTCCA 0.627 FOXN1 8456 broad.mit.edu 37 17 26864328 26864328 + Silent SNP A C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr17:26864328A>C uc010crm.2 + 9 2019 c.1821A>C c.(1819-1821)GCA>GCC p.A607A FOXN1_uc002hbj.2_Silent_p.A607A NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 607 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) GCTCCGGGGCACTGGGTGACC 0.687 GJC1 10052 broad.mit.edu 37 17 42882434 42882434 + Missense_Mutation SNP A G G TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr17:42882434A>G uc002ihj.2 - 2 1263 c.752T>C c.(751-753)CTT>CCT p.L251P GJC1_uc002ihk.2_Missense_Mutation_p.L251P|GJC1_uc002ihl.2_Missense_Mutation_p.L251P|GJC1_uc010czx.2_Missense_Mutation_p.L251P|GJC1_uc010czy.1_Missense_Mutation_p.L112P NM_005497 NP_005488 P36383 CXG1_HUMAN connexin 45 251 Cytoplasmic (Potential). cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane 0 Prostate(33;0.0959) CCCTAAATGAAGCATCTCCCA 0.413 MC4R 4160 broad.mit.edu 37 18 58039563 58039563 + Missense_Mutation SNP C T T rs142837166 TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr18:58039563C>T uc002lie.1 - 1 439 c.20G>A c.(19-21)CGT>CAT p.R7H NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 7 Extracellular (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) GTGCATCCCACGGTGGGTGGA 0.537 HDGFRP2 84717 broad.mit.edu 37 19 4475292 4475292 + Silent SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr19:4475292C>T uc002mao.2 + 2 186 c.93C>T c.(91-93)GGC>GGT p.G31G HDGFRP2_uc002map.2_Silent_p.G31G|HDGFRP2_uc010dtz.1_5'Flank NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 31 PWWP. transcription, DNA-dependent nucleus DNA binding|protein binding 0 TCGCGGATGGCGCCGTGAAGC 0.562 ZNF564 163050 broad.mit.edu 37 19 12638084 12638084 + Missense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr19:12638084G>A uc002mty.2 - 4 1048 c.838C>T c.(838-840)CCC>TCC p.P280S ZNF709_uc002mtx.3_Intron NM_144976 NP_659413 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CATTCATGGGGTTTCTCTCCA 0.403 CCDC123 84902 broad.mit.edu 37 19 33406291 33406291 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr19:33406291C>T uc002nty.2 - 14 1606 c.1517G>A c.(1516-1518)GGC>GAC p.G506D CCDC123_uc002ntx.2_Missense_Mutation_p.G259D|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.G505D NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 506 Potential. centrosome|spindle pole 0 Esophageal squamous(110;0.137) TGCGATTTTGCCATCCGAGTG 0.358 PSG9 5678 broad.mit.edu 37 19 43762524 43762524 + Missense_Mutation SNP G C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr19:43762524G>C uc002owd.3 - 5 1172 c.1073C>G c.(1072-1074)TCT>TGT p.S358C PSG9_uc002owe.3_Missense_Mutation_p.S265C|PSG9_uc010xwm.1_Missense_Mutation_p.S265C|PSG9_uc002owf.3_Missense_Mutation_p.S172C|PSG9_uc002owg.2_Missense_Mutation_p.S265C|PSG9_uc002owh.2_Missense_Mutation_p.S172C NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 358 Ig-like C2-type 3. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) CGGTGGGTTAGATTCCGTGAA 0.448 SYNGR4 23546 broad.mit.edu 37 19 48878966 48878966 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr19:48878966C>T uc002piz.2 + 4 673 c.428C>T c.(427-429)GCC>GTC p.A143V NM_012451 NP_036583 O95473 SNG4_HUMAN synaptogyrin 4 143 MARVEL. integral to membrane 0 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) AGCAGCAGTGCCCAGGCAGCC 0.612 LILRA1 11024 broad.mit.edu 37 19 55106242 55106242 + Silent SNP T C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr19:55106242T>C uc002qgh.1 + 4 365 c.183T>C c.(181-183)TAT>TAC p.Y61Y LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.Y61Y NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 61 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) ACCGTCTGTATAGAGAAAAGA 0.577 POLR1A 25885 broad.mit.edu 37 2 86272753 86272753 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr2:86272753C>T uc002sqs.2 - 20 3252 c.2873G>A c.(2872-2874)GGC>GAC p.G958D POLR1A_uc010ytb.1_Missense_Mutation_p.G324D|POLR1A_uc002sqt.1_5'Flank NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 958 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AGGTTTGATGCCGGTGAGGAA 0.512 PCDP1 200373 broad.mit.edu 37 2 120385285 120385285 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr2:120385285C>T uc002tmb.2 + 17 1807 c.715C>T c.(715-717)CGG>TGG p.R239W PCDP1_uc010yyq.1_Missense_Mutation_p.R369W NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 525 cilium calmodulin binding 0 Colorectal(110;0.196) TTATACCAGCCGGTTCTCTGT 0.537 ZNF142 7701 broad.mit.edu 37 2 219503257 219503257 + Silent SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr2:219503257G>A uc002vin.2 - 10 5305 c.4869C>T c.(4867-4869)TGC>TGT p.C1623C ZNF142_uc002vil.2_Silent_p.C1584C|ZNF142_uc010fvt.2_Silent_p.C1460C|ZNF142_uc002vim.2_Silent_p.C1460C NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1623 C2H2-type 31. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGCAGAGGCGGCAAAAGAAGG 0.607 ISM1 140862 broad.mit.edu 37 20 13279761 13279761 + Silent SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr20:13279761C>T uc010gce.1 + 6 1056 c.1050C>T c.(1048-1050)GAC>GAT p.D350D TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 350 AMOP. extracellular region 0 GCTGGAAGGACGCCAGCGGGC 0.647 ZBTB46 140685 broad.mit.edu 37 20 62421878 62421878 + Missense_Mutation SNP A C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr20:62421878A>C uc002ygv.1 - 2 434 c.233T>G c.(232-234)GTC>GGC p.V78G ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 78 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CTGGGCCGTGACGATGTCCAG 0.612 SCN11A 11280 broad.mit.edu 37 3 38892224 38892224 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr3:38892224C>T uc011ays.1 - 25 4274 c.4075G>A c.(4075-4077)GTG>ATG p.V1359M SCN11A_uc003cis.1_Missense_Mutation_p.V24M NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1359 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGTCGAACACGAGACCTTGA 0.308 GPR128 84873 broad.mit.edu 37 3 100349573 100349573 + Missense_Mutation SNP A G G TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr3:100349573A>G uc003duc.2 + 3 522 c.254A>G c.(253-255)TAT>TGT p.Y85C NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 85 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 AATAGTACCTATATGGGTTTT 0.318 EPHB1 2047 broad.mit.edu 37 3 134898744 134898744 + Missense_Mutation SNP A G G TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr3:134898744A>G uc003eqt.2 + 10 2022 c.1802A>G c.(1801-1803)GAG>GGG p.E601G EPHB1_uc003equ.2_Missense_Mutation_p.E162G NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 601 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TTCACTTACGAGGATCCCAAC 0.483 CORIN 10699 broad.mit.edu 37 4 47679958 47679958 + Missense_Mutation SNP C T T rs149563697 byFrequency TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr4:47679958C>T uc003gxm.2 - 9 1339 c.1246G>A c.(1246-1248)GTC>ATC p.V416I CORIN_uc011bzf.1_Missense_Mutation_p.V277I|CORIN_uc011bzg.1_Missense_Mutation_p.V349I|CORIN_uc011bzh.1_Missense_Mutation_p.V379I|CORIN_uc011bzi.1_Missense_Mutation_p.V379I NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 416 Extracellular (Potential). peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CACTTACTGACGCTGCAGTTC 0.493 UGT2B15 7366 broad.mit.edu 37 4 69536075 69536075 + Missense_Mutation SNP C A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr4:69536075C>A uc011cal.1 - 1 300 c.262G>T c.(262-264)GAT>TAT p.D88Y NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 88 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 AGAAGAGAATCTTCCAAATAA 0.294 UGT2B10 7365 broad.mit.edu 37 4 69870669 69870669 + Missense_Mutation SNP C A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr4:69870669C>A uc011cao.1 - 9 1517 c.1381G>T c.(1381-1383)GCT>TCT p.A461S UGT2B10_uc011can.1_Missense_Mutation_p.A377S P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 498 Helical; (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GCCACACAGGCCAGCAGGAAC 0.448 WDFY3 23001 broad.mit.edu 37 4 85611704 85611704 + Missense_Mutation SNP C G G TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr4:85611704C>G uc003hpd.2 - 61 9726 c.9318G>C c.(9316-9318)GAG>GAC p.E3106D NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3106 WD 1. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGGTGCCCATCTCCCACACAC 0.517 FSTL5 56884 broad.mit.edu 37 4 162577555 162577555 + Silent SNP T C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr4:162577555T>C uc003iqh.2 - 7 1255 c.819A>G c.(817-819)CAA>CAG p.Q273Q FSTL5_uc003iqi.2_Silent_p.Q272Q|FSTL5_uc010iqv.2_Silent_p.Q272Q NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 273 Ig-like 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCAGGGTTCCTTGAATGGCAC 0.388 CDH9 1007 broad.mit.edu 37 5 26988213 26988213 + Missense_Mutation SNP C G G TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr5:26988213C>G uc003jgs.1 - 2 397 c.228G>C c.(226-228)AAG>AAC p.K76N CDH9_uc010iug.2_Missense_Mutation_p.K76N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 76 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AAATTCTTACCTTGCCTACAT 0.348 C5orf48 389320 broad.mit.edu 37 5 125971812 125971812 + Missense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr5:125971812G>A uc003kub.1 + 3 297 c.284G>A c.(283-285)CGT>CAT p.R95H NM_207408 NP_997291 Q6ZNM6 CE048_HUMAN hypothetical protein LOC389320 95 ovary(1) 1 GGGGAAGATCGTAAAGTTGTC 0.443 IK 3550 broad.mit.edu 37 5 140033536 140033536 + Frame_Shift_Del DEL G - - TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr5:140033536delG uc003lgq.2 + 6 528 c.418delG c.(418-420)GCAfs p.A140fs IK_uc011czk.1_Frame_Shift_Del_p.A140fs NM_006083 NP_006074 Q13123 RED_HUMAN RED protein 140 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAATCAGCTGCAGAGAAGAG 0.328 PCDHGA9 56107 broad.mit.edu 37 5 140783915 140783915 + Missense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr5:140783915G>A uc003lkh.1 + 1 1396 c.1396G>A c.(1396-1398)GCC>ACC p.A466T 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.A466T NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 466 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) GGAAAACAACGCCAGAGGTAC 0.468 GRIA1 2890 broad.mit.edu 37 5 153149798 153149798 + Missense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr5:153149798G>A uc003lva.3 + 13 2458 c.2093G>A c.(2092-2094)CGG>CAG p.R698Q GRIA1_uc003luy.3_Missense_Mutation_p.R698Q|GRIA1_uc003luz.3_Missense_Mutation_p.R603Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R618Q|GRIA1_uc011dcx.1_Missense_Mutation_p.R629Q|GRIA1_uc011dcy.1_Missense_Mutation_p.R708Q|GRIA1_uc011dcz.1_Missense_Mutation_p.R708Q NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 698 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTTTTTGTGCGGACCACAGAG 0.468 RNF130 55819 broad.mit.edu 37 5 179393829 179393829 + Missense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr5:179393829C>T uc003mll.1 - 7 1534 c.1127G>A c.(1126-1128)GGA>GAA p.G376E RNF130_uc003mlm.1_Missense_Mutation_p.G376E NM_018434 NP_060904 Q86XS8 GOLI_HUMAN ring finger protein 130 precursor 376 Cytoplasmic (Potential). apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding lung(2)|ovary(1) 3 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTGATTTCTCCTGTTCTCGG 0.587 HIVEP1 3096 broad.mit.edu 37 6 12123451 12123451 + Silent SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr6:12123451C>T uc003nac.2 + 4 3602 c.3423C>T c.(3421-3423)TCC>TCT p.S1141S HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1141 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACACCAACTCCCTGAGCAGGC 0.507 PGK2 5232 broad.mit.edu 37 6 49754388 49754388 + Silent SNP G A A rs147140024 byFrequency TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr6:49754388G>A uc003ozu.2 - 1 620 c.513C>T c.(511-513)CGC>CGT p.R171R NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 171 Substrate (By similarity). glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) AACTATGAGCGCGGTGTGCAG 0.458 INHBA 3624 broad.mit.edu 37 7 41729925 41729925 + Missense_Mutation SNP T A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr7:41729925T>A uc003thq.2 - 2 839 c.604A>T c.(604-606)AGT>TGT p.S202C INHBA_uc003thr.2_Missense_Mutation_p.S202C NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 202 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 AACAGTTCACTCCTCTCCCCC 0.582 TSP Lung(11;0.080) TMEM120A 83862 broad.mit.edu 37 7 75617603 75617603 + Missense_Mutation SNP A C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr7:75617603A>C uc003ued.2 - 7 634 c.530T>G c.(529-531)ATC>AGC p.I177S TMEM120A_uc003uee.2_Missense_Mutation_p.I81S|TMEM120A_uc003ueb.1_5'Flank|TMEM120A_uc003uec.2_Missense_Mutation_p.I81S NM_031925 NP_114131 Q9BXJ8 T120A_HUMAN transmembrane protein 120A 177 Helical; (Potential). integral to membrane 0 GCTCTCCCGGATGGTCAGGGT 0.652 SMURF1 57154 broad.mit.edu 37 7 98636012 98636012 + Missense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr7:98636012G>A uc003upu.1 - 15 2085 c.1765C>T c.(1765-1767)CGG>TGG p.R589W SMURF1_uc003upv.1_Missense_Mutation_p.R563W|SMURF1_uc003upt.2_Missense_Mutation_p.R563W NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 589 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TGGCATTACCGGACGTATTCT 0.577 PIK3CG 5294 broad.mit.edu 37 7 106509059 106509059 + Silent SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr7:106509059C>T uc003vdv.3 + 2 1138 c.1053C>T c.(1051-1053)ACC>ACT p.T351T PIK3CG_uc003vdu.2_Silent_p.T351T|PIK3CG_uc003vdw.2_Silent_p.T351T NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 351 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GTGTGTTCACCGTGTCCCTGT 0.572 PRSS1 5644 broad.mit.edu 37 7 142460295 142460295 + Silent SNP C T T rs146076691 TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr7:142460295C>T uc003wak.2 + 4 485 c.468C>T c.(466-468)GAC>GAT p.D156D uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Silent_p.D96D NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 156 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACTACCCAGACGAGCTGCAGT 0.507 Hereditary_Pancreatitis TRAPPC9 83696 broad.mit.edu 37 8 141310662 141310662 + Silent SNP T C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr8:141310662T>C uc003yvj.2 - 11 1808 c.1674A>G c.(1672-1674)AAA>AAG p.K558K TRAPPC9_uc003yvh.2_Silent_p.K656K|TRAPPC9_uc003yvi.1_Silent_p.K549K NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 558 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 CCAGCAAGCTTTTCATTTTGT 0.443 LINGO2 158038 broad.mit.edu 37 9 27949565 27949565 + Nonsense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr9:27949565G>A uc003zqu.1 - 2 1299 c.1105C>T c.(1105-1107)CGA>TGA p.R369* LINGO2_uc010mjf.1_Nonsense_Mutation_p.R369*|LINGO2_uc003zqv.1_Nonsense_Mutation_p.R369* NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 369 LRRCT.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GTGGGCTGTCGCTGCAAGATC 0.547 KLF9 687 broad.mit.edu 37 9 73002796 73002796 + Missense_Mutation SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr9:73002796G>A uc004aht.2 - 2 1925 c.631C>T c.(631-633)CGC>TGC p.R211C NM_001206 NP_001197 Q13886 KLF9_HUMAN Kruppel-like factor 9 211 C2H2-type 3. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTCATGAAGCGCTTCTCACAC 0.592 EPB41L4B 54566 broad.mit.edu 37 9 112015778 112015778 + Missense_Mutation SNP T C C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chr9:112015778T>C uc004bdz.1 - 12 1517 c.1222A>G c.(1222-1224)ACC>GCC p.T408A EPB41L4B_uc004bea.2_Missense_Mutation_p.T408A NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 408 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 CTCTCAAAGGTGCTGGTTCTT 0.403 CDX4 1046 broad.mit.edu 37 X 72667327 72667327 + Nonsense_Mutation SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chrX:72667327C>T uc011mqk.1 + 1 238 c.238C>T c.(238-240)CGA>TGA p.R80* NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 80 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) CAGTCCCCCGCGAGAAGACTG 0.607 ATRX 546 broad.mit.edu 37 X 76918965 76918965 + Silent SNP C T T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chrX:76918965C>T uc004ecp.3 - 12 4258 c.4026G>A c.(4024-4026)CGG>CGA p.R1342R ATRX_uc004ecq.3_Silent_p.R1304R|ATRX_uc004eco.3_Silent_p.R1127R|ATRX_uc004ecr.2_Silent_p.R1274R NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1342 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TCAATTTGTGCCGCAAAAGCC 0.363 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome MAGEA8 4107 broad.mit.edu 37 X 149013838 149013838 + Silent SNP G A A TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c992e603-30c9-4e30-a425-8050189db4f8 c194cf39-9d59-4afe-9750-fe124ae94c68 g.chrX:149013838G>A uc004fdw.1 + 3 1007 c.792G>A c.(790-792)GCG>GCA p.A264A NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 264 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) ACCGCCAGGCGCCCGGCAGTG 0.582